Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SARDH	1757	broad.mit.edu	37	9	136597638	136597638	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:136597638C>T	ENST00000371872.4	-	3	674	c.417G>A	c.(415-417)gaG>gaA	p.E139E	SARDH_ENST00000371867.1_Silent_p.E50E|SARDH_ENST00000298628.5_Silent_p.E139E|SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000439388.1_Silent_p.E139E	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	139					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCCCGTCTCCTCCTCCAGCT	0.672000													40	136					0	0	0.009718	0	0
C3AR1	719	broad.mit.edu	37	12	8212250	8212250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:8212250G>A	ENST00000307637.4	-	2	735	c.532C>T	c.(532-534)Ctc>Ttc	p.L178F		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	178					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GAGCTGGAGAGACCAAATTTG	0.418000													51	52					0	0	0.014410	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763562	92763562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:92763562C>T	ENST00000318238.4	-	5	2939	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.E575K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E575K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	575										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AACATATTTTCCATTCCTTTG	0.358000													22	48					0	0	0.014323	0	0
ALPK3	57538	broad.mit.edu	37	15	85383474	85383474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:85383474G>A	ENST00000258888.5	+	5	1737	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	524					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAAAGATGAGGAATCCAAGCA	0.552000													19	50					0	0	0.007413	0	0
ESR2	2100	broad.mit.edu	37	14	64749369	64749369	+	Missense_Mutation	SNP	G	G	A	rs141516067		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:64749369G>A	ENST00000557772.1	-	1	334	c.335C>T	c.(334-336)tCg>tTg	p.S112L	ESR2_ENST00000357782.2_Missense_Mutation_p.S112L|ESR2_ENST00000358599.5_Missense_Mutation_p.S112L|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000553796.1_Missense_Mutation_p.S112L|ESR2_ENST00000555278.1_Missense_Mutation_p.S112L|ESR2_ENST00000542956.1_Missense_Mutation_p.S112L|ESR2_ENST00000554572.1_Missense_Mutation_p.S112L|ESR2_ENST00000341099.4_Missense_Mutation_p.S112L|ESR2_ENST00000267525.6_Missense_Mutation_p.S112L|ESR2_ENST00000353772.3_Missense_Mutation_p.S112L	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	112	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTGTTCTAGCGATCTTGCTTC	0.448000													24	26					0	0	0.018920	0	0
SCN5A	6331	broad.mit.edu	37	3	38601711	38601711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:38601711C>T	ENST00000413689.1	-	23	4365	c.4172G>A	c.(4171-4173)gGa>gAa	p.G1391E	SCN5A_ENST00000414099.2_Missense_Mutation_p.G1391E|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1391E|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1391E|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1390E|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1390E|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1337E|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1337E|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1337E|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1390E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1391					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTACAATTCTCCGGTCAAGTT	0.527000													8	17					0	0	0.004482	0	0
GPC6	10082	broad.mit.edu	37	13	93879743	93879743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:93879743C>T	ENST00000377047.4	+	1	649	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	12						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GATTCTTCCCCTCTTGGGGCT	0.642000											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	58					0	0	0.012213	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726198	168726198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:168726198C>T	ENST00000305861.1	+	2	1000	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.R217C|AC016723.4_ENST00000436982.2_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	217					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.R217C(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TCGGGATGTCCGCAGTAAGTG	0.453000													19	41					0	0	0.014323	0	0
MTOR	2475	broad.mit.edu	37	1	11316081	11316081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:11316081G>A	ENST00000361445.4	-	5	749	c.673C>T	c.(673-675)Ccg>Tcg	p.P225S		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	225					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ATCTCCTTCGGCTCACGCTGG	0.557000													16	27					0	0	0.008871	0	0
DSCAM	1826	broad.mit.edu	37	21	41447132	41447132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:41447132G>A	ENST00000400454.1	-	27	5197	c.4720C>T	c.(4720-4722)Cct>Tct	p.P1574S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1574					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGAGTGGAGGAATTGTACCT	0.502000													11	27					0	0	0.013537	0	0
BCL9L	283149	broad.mit.edu	37	11	118773103	118773103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:118773103G>A	ENST00000334801.3	-	6	2313	c.1349C>T	c.(1348-1350)cCc>cTc	p.P450L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	450	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGCTGGGGGGGAGGGGGGGC	0.672000													16	12					0	0	0.003163	0	0
DEPDC5	9681	broad.mit.edu	37	22	32217490	32217490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:32217490C>T	ENST00000400246.1	+	23	2015	c.1873C>T	c.(1873-1875)Cca>Tca	p.P625S	DEPDC5_ENST00000400248.1_Missense_Mutation_p.P625S|DEPDC5_ENST00000400249.2_Missense_Mutation_p.P625S|DEPDC5_ENST00000382111.2_Missense_Mutation_p.P625S|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382112.3_Missense_Mutation_p.P625S|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000266091.3_Missense_Mutation_p.P625S|DEPDC5_ENST00000535622.1_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5	625					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTGGGTAGGGCCATCCGGAGA	0.532000													42	103					0	0	0.010771	0	0
ZNF516	9658	broad.mit.edu	37	18	74154876	74154876	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:74154876G>A	ENST00000443185.2	-	3	452	c.135C>T	c.(133-135)ttC>ttT	p.F45F	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCGAGCTCTGGAAGGGGAAGC	0.662000													15	17					0	0	0.004990	0	0
C2orf71	388939	broad.mit.edu	37	2	29293979	29293979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:29293979G>A	ENST00000331664.5	-	1	3148	c.3149C>T	c.(3148-3150)cCa>cTa	p.P1050L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1050	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGGTGCGGTGGGGAAGTTCG	0.682000													24	43					0	0	0.021523	0	0
OR10H5	284433	broad.mit.edu	37	19	15905786	15905786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:15905786C>T	ENST00000308940.8	+	1	1026	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CTTCACCAAACTCTTTCCACA	0.478000													9	24					0	0	0.004482	0	0
CR1	1378	broad.mit.edu	37	1	207789995	207789995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:207789995G>A	ENST00000367049.4	+	41	6737	c.6737G>A	c.(6736-6738)gGa>gAa	p.G2246E	CR1_ENST00000367051.1_Missense_Mutation_p.G1796E|CR1_ENST00000367052.1_Missense_Mutation_p.G1796E|CR1_ENST00000367053.1_Missense_Mutation_p.G1796E|CR1_ENST00000400960.2_Missense_Mutation_p.G1796E	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1796					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATTCCCTATGGAAAAGAAATA	0.468000													78	138					0	0	0.014410	0	0
GRIA3	2892	broad.mit.edu	37	X	122459949	122459949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:122459949G>A	ENST00000264357.5	+	4	873	c.581G>A	c.(580-582)gGa>gAa	p.G194E	GRIA3_ENST00000371256.5_Missense_Mutation_p.G194E|GRIA3_ENST00000542149.1_Missense_Mutation_p.G194E|GRIA3_ENST00000541091.1_Missense_Mutation_p.G178E|GRIA3_ENST00000371251.1_Missense_Mutation_p.G194E	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	194					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGGTCTGTGGGAAACATAAAG	0.443000													10	18					0	0	0.006214	0	0
HLA-F	3134	broad.mit.edu	37	6	29694733	29694733	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:29694733A>T	ENST00000440587.2	+	6	1082	c.723A>T	c.(721-723)caA>caT	p.Q241H	HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.Q370H			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	117	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGCTCTTCCAAGGATATTTGG	0.493000													40	165					0	0	0.007835	0	0
GJB4	127534	broad.mit.edu	37	1	35227260	35227260	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:35227260C>T	ENST00000339480.1	+	2	775	c.405C>T	c.(403-405)ctC>ctT	p.L135L	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	135					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGCTGAGCCTCATCTTCAAGG	0.602000													18	34					0	0	0.008871	0	0
DNAH8	1769	broad.mit.edu	37	6	38840746	38840746	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:38840746C>T	ENST00000359357.3	+	49	6905	c.6651C>T	c.(6649-6651)tcC>tcT	p.S2217S	DNAH8_ENST00000449981.2_Silent_p.S2434S|DNAH8_ENST00000441566.1_Silent_p.S2181S					dynein, axonemal, heavy chain 8											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						ACTTAAATTCCGTTTTGGATG	0.378000													20	90					0	0	0.018920	0	0
VWA5A	4013	broad.mit.edu	37	11	124007781	124007781	+	Missense_Mutation	SNP	G	G	A	rs143375060	byFrequency	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:124007781G>A	ENST00000456829.2	+	15	1936	c.1685G>A	c.(1684-1686)aGg>aAg	p.R562K	VWA5A_ENST00000392748.1_Missense_Mutation_p.R562K|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	562										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATGGGCCTCAGGGAGACTCCA	0.453000													27	35					0	0	0.006320	0	0
PAX5	5079	broad.mit.edu	37	9	36882077	36882077	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:36882077G>A	ENST00000358127.4	-	8	1010	c.936C>T	c.(934-936)ctC>ctT	p.L312L	PAX5_ENST00000377847.2_Intron|PAX5_ENST00000520281.1_Silent_p.L269L|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377853.2_Silent_p.L312L|PAX5_ENST00000414447.1_Silent_p.L269L|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000522003.1_Silent_p.L204L	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	312					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)|p.L312>?(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGTACCCGGGGAGGGTCGTGC	0.637000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								8	11					0	0	0.006214	0	0
PIK3R5	23533	broad.mit.edu	37	17	8784275	8784275	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:8784275G>A	ENST00000447110.1	-	18	2566	c.2442C>T	c.(2440-2442)ccC>ccT	p.P814P	PIK3R5_ENST00000581552.1_Silent_p.P814P|PIK3R5_ENST00000584803.1_Silent_p.P813P	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	814					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ACACAGCAAAGGGGCAGCTGT	0.567000													64	38					0	0	0.014410	0	0
HAUS5	23354	broad.mit.edu	37	19	36109915	36109915	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:36109915C>T	ENST00000203166.5	+	13	1168	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	381					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGCTACAGGCCAAACAGCAGC	0.632000													15	33					0	0	0.004007	0	0
PEG3	5178	broad.mit.edu	37	19	57325354	57325354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:57325354C>T	ENST00000326441.9	-	10	4819	c.4456G>A	c.(4456-4458)Gga>Aga	p.G1486R	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G1362R|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1486R|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G1360R	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1486	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTTCAATTCCCACACCGTCA	0.502000													39	101					0	0	0.006230	0	0
PRSS36	146547	broad.mit.edu	37	16	31152904	31152904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:31152904G>A	ENST00000268281.4	-	12	1845	c.1787C>T	c.(1786-1788)cCa>cTa	p.P596L	PRSS36_ENST00000418068.2_Missense_Mutation_p.P596L|PRSS36_ENST00000569305.1_Missense_Mutation_p.P591L	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	596	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GACCCCCACTGGAGCAGCCTC	0.682000													23	34					0	0	0.014323	0	0
CARS	833	broad.mit.edu	37	11	3041483	3041483	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:3041483G>A	ENST00000397114.3	-	11	1330	c.954C>T	c.(952-954)ccC>ccT	p.P318P	CARS_ENST00000401769.3_Silent_p.P341P|CARS_ENST00000380525.4_Silent_p.P411P|CARS_ENST00000397111.5_Silent_p.P328P|CARS_ENST00000278224.9_Silent_p.P328P			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	328					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ACGGTTCTCCGGGCTTAGAGG	0.627000			T	ALK	ALCL								20	60					0	0	0.014323	0	0
KRT16	3868	broad.mit.edu	37	17	39767645	39767645	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:39767645G>A	ENST00000301653.4	-	3	787	c.723C>T	c.(721-723)atC>atT	p.I241I		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	241	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)				TCAGGCCTTCGATCTGCATCT	0.637000													51	77					0	0	0.014410	0	0
RNF17	56163	broad.mit.edu	37	13	25453337	25453337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:25453337G>A	ENST00000255324.5	+	35	4838	c.4786G>A	c.(4786-4788)Gaa>Aaa	p.E1596K	RNF17_ENST00000381921.1_Missense_Mutation_p.E1554K|RNF17_ENST00000339524.3_Missense_Mutation_p.E606K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1596					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCCAGCACCAGAACAGATAGT	0.408000													13	23					0	0	0.003163	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106093514	106093514	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:106093514T>G	ENST00000357242.5	+	12	2271	c.2097T>G	c.(2095-2097)gaT>gaG	p.D699E	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D693E	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	699						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAAAGATGATGCTGAAGCTG	0.373000													24	28					0	0	0.021523	0	0
FEM1A	55527	broad.mit.edu	37	19	4793311	4793311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:4793311C>T	ENST00000269856.3	+	1	1584	c.1445C>T	c.(1444-1446)cCc>cTc	p.P482L	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	482					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CTGCAGCTGCCCAGGGAGCCC	0.657000													29	49					0	0	0.008361	0	0
BCAR1	9564	broad.mit.edu	37	16	75268868	75268868	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:75268868G>A	ENST00000546196.1	-	5	3494	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F	BCAR1_ENST00000162330.5_Silent_p.F643F|BCAR1_ENST00000542031.2_Silent_p.F641F|BCAR1_ENST00000538440.2_Silent_p.F643F|BCAR1_ENST00000535626.2_Silent_p.F495F|BCAR1_ENST00000393422.2_Silent_p.F661F|BCAR1_ENST00000420641.3_Silent_p.F661F|BCAR1_ENST00000418647.3_Silent_p.F689F|BCAR1_ENST00000393420.6_Silent_p.F661F|BCAR1_ENST00000566982.1_5'UTR			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	643	Ser-rich.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCTGGGAGGTGAACTTAGGGG	0.662000													26	51					0	0	0.007291	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919569	12919569	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:12919569G>A	ENST00000240189.2	+	3	396	c.309G>A	c.(307-309)ctG>ctA	p.L103L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	103										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAAGTGCTGGATTTGCGGG	0.517000													101	211					0	0	0.014410	0	0
LGR6	59352	broad.mit.edu	37	1	202283943	202283943	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:202283943G>A	ENST00000367278.3	+	17	1670	c.1581G>A	c.(1579-1581)ctG>ctA	p.L527L	LGR6_ENST00000255432.7_Silent_p.L475L|LGR6_ENST00000439764.2_Silent_p.L388L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	527						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ACCAGGACCTGGATGAGCTCC	0.562000													35	46					0	0	0.021022	0	0
OR52E6	390078	broad.mit.edu	37	11	5863129	5863129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:5863129C>T	ENST00000379946.2	-	2	10	c.11G>A	c.(10-12)aGa>aAa	p.R4K	TRIM5_ENST00000380027.1_Intron			Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATAGGCATTCTTTCTGTCAC	0.413000													12	44					0	0	0.013537	0	0
SNTG2	54221	broad.mit.edu	37	2	1243537	1243537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:1243537C>T	ENST00000308624.5	+	11	1006	c.877C>T	c.(877-879)Cct>Tct	p.P293S	SNTG2_ENST00000407292.1_Missense_Mutation_p.P166S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	293					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ATGCTGCTCTCCTTCCGACCA	0.478000													7	16					0	0	0.003080	0	0
SLFN13	146857	broad.mit.edu	37	17	33771717	33771717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:33771717G>A	ENST00000285013.6	-	3	1258	c.983C>T	c.(982-984)cCc>cTc	p.P328L	SLFN13_ENST00000360502.2_Missense_Mutation_p.P10L|SLFN13_ENST00000533791.1_Missense_Mutation_p.P328L|SLFN13_ENST00000542635.1_Missense_Mutation_p.P328L|SLFN13_ENST00000534689.1_Missense_Mutation_p.P10L|SLFN13_ENST00000526861.1_Missense_Mutation_p.P328L	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	328						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCATGACTTGGGAGCTTCCGA	0.468000													28	64					0	0	0.007291	0	0
SYT3	84258	broad.mit.edu	37	19	51132550	51132550	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:51132550C>T	ENST00000338916.4	-	4	1915		c.e4+1		SYT3_ENST00000600079.1_Splice_Site|SYT3_ENST00000593901.1_Splice_Site|SYT3_ENST00000544769.1_Splice_Site	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III							cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGGCCACTGACCGAGCCGCCC	0.667000													7	12					0	0	0.003080	0	0
THSD1	55901	broad.mit.edu	37	13	52971369	52971369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:52971369G>A	ENST00000349258.4	-	3	1563	c.1019C>T	c.(1018-1020)aCa>aTa	p.T340I	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.T340I	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	340	TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ATACAAACCTGTATTTCTCTG	0.313000													14	40					0	0	0.004007	0	0
ZNF662	389114	broad.mit.edu	37	3	42956832	42956832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:42956832C>T	ENST00000541208.1	+	5	1636	c.1267C>T	c.(1267-1269)Ctt>Ttt	p.L423F	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.L423F|ZNF662_ENST00000328199.6_Missense_Mutation_p.L449F			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GATCTCTCACCTTCTTGAACA	0.408000													11	28					0	0	0.008291	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104208	142104208	+	RNA	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:142104208G>A	ENST00000390379.1	-	0	256																											GTTTGATCTGGATACATTGTA	0.522000													54	138					0	0	0.014410	0	0
KCNS2	3788	broad.mit.edu	37	8	99441498	99441498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:99441498G>A	ENST00000287042.4	+	2	1641	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N	KCNS2_ENST00000521839.1_Missense_Mutation_p.D431N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	431						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GCGCAGCTGTGACTTTGGAGA	0.488000													54	86					0	0	0.014410	0	0
IGSF11	152404	broad.mit.edu	37	3	118644973	118644973	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:118644973G>A	ENST00000354673.2	-	6	932	c.552C>T	c.(550-552)ctC>ctT	p.L184L	IGSF11_ENST00000489689.1_Silent_p.L185L|IGSF11_ENST00000393775.2_Silent_p.L185L|IGSF11_ENST00000425327.2_Silent_p.L184L|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000491903.1_Silent_p.L185L|IGSF11_ENST00000441144.2_Silent_p.L184L	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	185	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGGTAGTTTGAGGGTATTGT	0.408000													15	38					0	0	0.004990	0	0
RANBP17	64901	broad.mit.edu	37	5	170667962	170667962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:170667962C>T	ENST00000523189.1	+	23	2617	c.2453C>T	c.(2452-2454)tCa>tTa	p.S818L	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	818					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGAGCCTCTCAAAAGATCAG	0.413000			T	TRD@	ALL								34	78					0	0	0.019004	0	0
PRPF8	10594	broad.mit.edu	37	17	1558786	1558786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:1558786G>A	ENST00000572621.1	-	36	6110	c.5845C>T	c.(5845-5847)Cgg>Tgg	p.R1949W	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1949W			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1949	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ACTTTTGCCCGATCGTTGTTC	0.517000													70	46					0	0	0.014410	0	0
RTF1	23168	broad.mit.edu	37	15	41745236	41745236	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:41745236C>T	ENST00000389629.4	+	3	459	c.447C>T	c.(445-447)gcC>gcT	p.A149A		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	149	Ser-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGAGCTCAGCCCCTGAGGAAG	0.517000													13	33					0	0	0.016723	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145763161	145763161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:145763161G>A	ENST00000377307.2	-	6	2642	c.2558C>T	c.(2557-2559)aCt>aTt	p.T853I	ARHGAP39_ENST00000540274.1_Intron|ARHGAP39_ENST00000276826.5_Intron|ARHGAP39_ENST00000528810.1_5'UTR	NM_025251.1	NP_079527.1	Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	840	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTTCTTCTTAGTGTTTCTTTC	0.552000													24	81					0	0	0.005443	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756665	49756665	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:49756665G>A	ENST00000535833.1	-	10	3684	c.234C>T	c.(232-234)ccC>ccT	p.P78P	RNF123_ENST00000327697.6_Intron|GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Silent_p.P78P|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	78					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAACCAGCCGGGGCGCAGGC	0.677000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	60					0	0	0.007291	0	0
TARS2	80222	broad.mit.edu	37	1	150471505	150471505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:150471505G>A	ENST00000369064.3	+	12	1568	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.E430K|TARS2_ENST00000369054.2_Missense_Mutation_p.E382K	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	512					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGACCAGGCCGAACAGGTGAG	0.562000													35	118					0	0	0.017118	0	0
KDR	3791	broad.mit.edu	37	4	55968659	55968659	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:55968659C>T	ENST00000263923.4	-	14	2299	c.2004G>A	c.(2002-2004)acG>acA	p.T668T		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	668	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTCCTGTGATCGTGGGTGCCA	0.428000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			10	37					0	0	0.013537	0	0
TRPM4	54795	broad.mit.edu	37	19	49705305	49705305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:49705305C>T	ENST00000252826.5	+	20	3164	c.3038C>T	c.(3037-3039)tCc>tTc	p.S1013F	TRPM4_ENST00000427978.2_Missense_Mutation_p.S868F|TRPM4_ENST00000355712.5_Missense_Mutation_p.S659F	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1013					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		ACCTGCGTCTCCCAGTATGCC	0.617000													52	91					0	0	0.014410	0	0
CBL	867	broad.mit.edu	37	11	119103163	119103163	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:119103163G>A	ENST00000264033.4	+	2	577	c.201G>A	c.(199-201)gtG>gtA	p.V67V		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	67	4H.|Cbl-PTB.				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	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|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)		TGCAGGTGGTGCGGTTGTGTC	0.403000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				16	19					0	0	0.004990	0	0
PID1	55022	broad.mit.edu	37	2	229890744	229890744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:229890744C>T	ENST00000392054.3	-	4	690	c.351G>A	c.(349-351)tgG>tgA	p.W117*	PID1_ENST00000409462.1_Nonsense_Mutation_p.W37*|PID1_ENST00000392055.3_Nonsense_Mutation_p.W86*|PID1_ENST00000354069.6_Nonsense_Mutation_p.W119*|PID1_ENST00000482518.2_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	119	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGTGCTTCTTCCAGAGCTCAA	0.537000													15	53					0	0	0.004990	0	0
NLRP5	126206	broad.mit.edu	37	19	56515201	56515201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:56515201C>T	ENST00000390649.3	+	2	182	c.182C>T	c.(181-183)tCc>tTc	p.S61F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	61	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCACCTTTTCCAGCTACGGG	0.433000													29	86					0	0	0.009535	0	0
MYO18B	84700	broad.mit.edu	37	22	26423626	26423626	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:26423626G>A	ENST00000335473.7	+	43	7936	c.7686G>A	c.(7684-7686)aaG>aaA	p.K2562K	MYO18B_ENST00000536101.1_Silent_p.K2562K|MYO18B_ENST00000407587.2_Silent_p.K2563K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2562						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCATAATGAAGAAATACCTCC	0.567000													7	18					0	0	0.003080	0	0
ZNF883	169834	broad.mit.edu	37	9	115760190	115760190	+	RNA	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:115760190C>T	ENST00000427548.1	-	0	1623							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AGTATGGATTCTCTCATGATT	0.383000													14	32					0	0	0.016723	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7518408	7518408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:7518408C>T	ENST00000593531.1	+	10	1220	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	ARHGEF18_ENST00000319670.9_Silent_p.I291I|ARHGEF18_ENST00000359920.6_Silent_p.I449I																							TCAAAGATATCATCTCACAAG	0.507000													29	49					0	0	0.009535	0	0
C11orf70	85016	broad.mit.edu	37	11	101946634	101946634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:101946634G>A	ENST00000434758.2	+	5	494	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	C11orf70_ENST00000526781.1_Missense_Mutation_p.E156K|C11orf70_ENST00000534360.1_Silent_p.*100*	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	156								p.E118*(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGAAAAATATGAAATATTCAG	0.343000													17	36					0	0	0.010504	0	0
DNAH5	1767	broad.mit.edu	37	5	13839571	13839571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:13839571C>T	ENST00000265104.4	-	35	5880	c.5776G>A	c.(5776-5778)Gaa>Aaa	p.E1926K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1926	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGAATCTTCGTTAAAGTAA	0.383000									Kartagener syndrome				22	50					0	0	0.014323	0	0
TIAM1	7074	broad.mit.edu	37	21	32496914	32496914	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:32496914G>T	ENST00000286827.3	-	28	4703	c.4232C>A	c.(4231-4233)tCc>tAc	p.S1411Y	TIAM1_ENST00000541036.1_Missense_Mutation_p.S1351Y	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1411					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATATTGCTGGGATGAGGGAAG	0.542000													14	44					4.3838e-07	4.8064e-07	0.016723	1	0
TNFRSF13B	23495	broad.mit.edu	37	17	16855861	16855861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:16855861G>A	ENST00000261652.2	-	2	110	c.98C>T	c.(97-99)tCc>tTc	p.S33F	TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000583789.1_Intron|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.S33F|TNFRSF13B_ENST00000437538.2_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	33					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TTCGGGGCAGGATCTCATAGC	0.617000									IgA Deficiency, Selective				11	28					0	0	0.010729	0	0
ALMS1	7840	broad.mit.edu	37	2	73680499	73680499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:73680499C>T	ENST00000264448.6	+	8	6953	c.6842C>T	c.(6841-6843)cCc>cTc	p.P2281L	ALMS1_ENST00000409009.1_Missense_Mutation_p.P2239L|ALMS1_ENST00000377715.1_Missense_Mutation_p.P2281L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2281					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTCCTGCTCCCCTTGCCCGT	0.398000													14	24					0	0	0.016723	0	0
HIP1	3092	broad.mit.edu	37	7	75174474	75174474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:75174474G>A	ENST00000336926.6	-	26	2598	c.2572C>T	c.(2572-2574)Cct>Tct	p.P858S	HIP1_ENST00000434438.2_Missense_Mutation_p.P807S	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	858	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.P860A(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AACTCTTTAGGGGATGCTGTA	0.413000			T	PDGFRB	CMML								41	110					0	0	0.014410	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896121	151896121	+	RNA	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:151896121G>A	ENST00000361201.4	-	0	609					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						CCTTGCCCGGGAATTACTGGC	0.493000													3	7					0	0	0.004672	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3672569	3672569	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:3672569G>A	ENST00000344754.4	-	16	4310	c.4311C>T	c.(4309-4311)atC>atT	p.I1437I	SIGLEC1_ENST00000202578.4_Silent_p.I1437I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1437	Ig-like C2-type 14.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCAACCGCCCGATGGTGCTGA	0.592000													18	81					0	0	0.008871	0	0
AGGF1	55109	broad.mit.edu	37	5	76332495	76332495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:76332495G>A	ENST00000312916.7	+	4	1013	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	211					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TAGTTATGATGAAAATACTGG	0.388000													7	494					0	0	0.004482	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862608	25862608	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:25862608C>T	ENST00000397060.4	-	3	265	c.156G>A	c.(154-156)acG>acA	p.T52T	SLC17A3_ENST00000361703.6_Silent_p.T52T|SLC17A3_ENST00000360657.3_Silent_p.T52T	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	52					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TTTGTGCTATCGTTGTGAAAT	0.413000													18	74					0	0	0.008871	0	0
GLYAT	10249	broad.mit.edu	37	11	58491920	58491920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:58491920G>A	ENST00000344743.3	-	2	191	c.50C>T	c.(49-51)tCc>tTc	p.S17F	GLYAT_ENST00000529732.1_Missense_Mutation_p.S17F|GLYAT_ENST00000278400.3_Missense_Mutation_p.S17F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	17			S -> T (in dbSNP:rs10896818).		acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTTCCTCAAGGATTTCTCCAG	0.448000													40	120					0	0	0.014410	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125856726	125856726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:125856726C>T	ENST00000393434.2	-	10	1503	c.1154G>A	c.(1153-1155)gGg>gAg	p.G385E	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G395E|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G284E|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.G385E|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G385E	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	385	Acyl carrier.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GATGAAGTCCCCAAAGGTGGA	0.557000													22	48					0	0	0.012319	0	0
SLC4A11	83959	broad.mit.edu	37	20	3208477	3208477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:3208477C>T	ENST00000380059.3	-	20	2814	c.2713G>A	c.(2713-2715)Gaa>Aaa	p.E905K	SLC4A11_ENST00000539553.1_Missense_Mutation_p.E862K|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.E878K	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	878					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TACTTGGCTTCAATGATTCGG	0.627000													16	40					0	0	0.006122	0	0
OR51B5	282763	broad.mit.edu	37	11	5363907	5363907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:5363907G>A	ENST00000300773.2	-	1	902	c.848C>T	c.(847-849)cCa>cTa	p.P283L	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTCATTAGTGGAGGGAACAG	0.388000													10	30					0	0	0.010729	0	0
IL10RB	3588	broad.mit.edu	37	21	34668534	34668534	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:34668534C>T	ENST00000290200.2	+	7	958	c.850C>T	c.(850-852)Cca>Tca	p.P284S		NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TTTCTCCTTTCCATTGTCGGA	0.448000													32	118					0	0	0.010818	0	0
CD2BP2	10421	broad.mit.edu	37	16	30364908	30364908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:30364908G>A	ENST00000305596.3	-	5	764	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	CD2BP2_ENST00000569466.1_Nonsense_Mutation_p.Q197*	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	197					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TCCAGGCGCTGAGGGGAACTG	0.642000													11	13					0	0	0.010729	0	0
TRIM26	7726	broad.mit.edu	37	6	30153703	30153703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:30153703G>A	ENST00000454678.2	-	10	2006	c.1570C>T	c.(1570-1572)Ccc>Tcc	p.P524S	TRIM26_ENST00000453195.1_Missense_Mutation_p.P524S|TRIM26_ENST00000437089.1_Missense_Mutation_p.P524S	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	524	B30.2/SPRY.						DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CACAGGAAGGGGACCAGGCGC	0.592000													10	46					0	0	0.008291	0	0
TRIP12	9320	broad.mit.edu	37	2	230693983	230693983	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:230693983A>C	ENST00000283943.5	-	7	1410	c.1232T>G	c.(1231-1233)cTt>cGt	p.L411R	TRIP12_ENST00000389044.4_Missense_Mutation_p.L459R|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.L114R	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	411					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTGAGGGGGAAGACCCCTTGC	0.408000													16	40					0	0	0.004990	0	0
KLHL4	56062	broad.mit.edu	37	X	86887330	86887330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:86887330G>A	ENST00000373119.4	+	7	1590	c.1445G>A	c.(1444-1446)gGa>gAa	p.G482E	KLHL4_ENST00000373114.4_Missense_Mutation_p.G482E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	482						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						TATGTCGTGGGAGGAAGAGAC	0.448000													12	17					0	0	0.010729	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651708	84651708	+	Missense_Mutation	SNP	G	G	A	rs146998252	by1000genomes	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:84651708G>A	ENST00000286744.5	+	21	3552	c.3328G>A	c.(3328-3330)Gga>Aga	p.G1110R	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1110R	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1110						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATGGAAACCGGAGAGGTCAG	0.498000													22	67					0	0	0.012319	0	0
NEU2	4759	broad.mit.edu	37	2	233899687	233899687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:233899687G>A	ENST00000233840.3	+	2	1063	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	355							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GTGTCTGTACGAAGCCAATGA	0.577000													59	163					0	0	0.014410	0	0
IFNW1	3467	broad.mit.edu	37	9	21141465	21141465	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:21141465C>T	ENST00000380229.2	-	1	679	c.105G>A	c.(103-105)agG>agA	p.R35R		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	35					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCAAGGTGTTCCTGCTAAGTA	0.527000													43	63					0	0	0.014410	0	0
PTEN	5728	broad.mit.edu	37	10	89720876	89720876	+	Splice_Site	SNP	G	G	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:89720876G>C	ENST00000371953.3	+	8	2383		c.e8+1		PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(7)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAATTTTAAGGTCAGTTAAAT	0.323000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			3	38					0	0	0.009096	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799733	159799733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:159799733C>T	ENST00000289707.5	+	2	267	c.118C>T	c.(118-120)Ccc>Tcc	p.P40S	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	40						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GGCAGCGCGTCCCCCTGGCTT	0.597000													128	137					0	0	0.014410	0	0
XKR6	286046	broad.mit.edu	37	8	10756279	10756279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:10756279G>A	ENST00000416569.2	-	3	1135	c.1109C>T	c.(1108-1110)tCc>tTc	p.S370F	XKR6_ENST00000304437.2_Missense_Mutation_p.S91F	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	370						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GATCACTCGGGATGAGATGGT	0.537000													35	85					0	0	0.019004	0	0
COL5A3	50509	broad.mit.edu	37	19	10092784	10092784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:10092784C>T	ENST00000264828.3	-	32	2502	c.2417G>A	c.(2416-2418)gGa>gAa	p.G806E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	806	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCGGGAAATCCAATAGATCC	0.537000													9	26					0	0	0.006214	0	0
FBXO18	84893	broad.mit.edu	37	10	5948180	5948180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:5948180C>T	ENST00000379999.5	+	4	595	c.491C>T	c.(490-492)tCa>tTa	p.S164L	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.S113L|FBXO18_ENST00000470089.1_3'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	113	F-box.				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGGCCGGGCTCACCAGGGTCT	0.602000													20	36					0	0	0.012319	0	0
KCNB1	3745	broad.mit.edu	37	20	47990100	47990100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:47990100G>A	ENST00000371741.4	-	2	2163	c.1997C>T	c.(1996-1998)cCt>cTt	p.P666L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	666					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGCTTCAAAGGGTTGTTAGT	0.547000													23	81					0	0	0.018920	0	0
MYO18B	84700	broad.mit.edu	37	22	26242175	26242175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:26242175G>A	ENST00000335473.7	+	19	3727	c.3477G>A	c.(3475-3477)atG>atA	p.M1159I	MYO18B_ENST00000536101.1_Missense_Mutation_p.M1159I|MYO18B_ENST00000407587.2_Missense_Mutation_p.M1160I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1159	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGAGCCGCATGGTGAGGAGGA	0.662000													13	31					0	0	0.004007	0	0
VPS13D	55187	broad.mit.edu	37	1	12337566	12337566	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:12337566G>A	ENST00000358136.3	+	19	4051	c.3921G>A	c.(3919-3921)atG>atA	p.M1307I	VPS13D_ENST00000356315.4_Missense_Mutation_p.M1307I	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1307					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGTTATCCATGGATGAACTGG	0.418000													28	54					0	0	0.007291	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985455	140985455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:140985455C>T	ENST00000298296.1	+	8	1769	c.1769C>T	c.(1768-1770)tCc>tTc	p.S590F	MAGEC3_ENST00000409007.1_Silent_p.I339I|MAGEC3_ENST00000536088.1_Silent_p.I339I|MAGEC3_ENST00000443323.2_Silent_p.I259I|MAGEC3_ENST00000544766.1_Silent_p.I339I	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	590	MAGE 2.									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)					GAGTTTTTATCCAAGCTATCC	0.478000													36	44					0	0	0.021022	0	0
UIMC1	51720	broad.mit.edu	37	5	176396036	176396036	+	Silent	SNP	A	A	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:176396036A>G	ENST00000377219.2	-	6	886	c.720T>C	c.(718-720)ggT>ggC	p.G240G	UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000511320.1_Silent_p.G240G|UIMC1_ENST00000377227.4_Silent_p.G240G	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	240					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAAAGCAGAACCCCTCCCAG	0.527000													44	77					0	0	0.014410	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228600	57228600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:57228600C>T	ENST00000396721.2	-	2	437	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	SDR16C5_ENST00000522671.1_Missense_Mutation_p.E103K|SDR16C5_ENST00000303749.3_Missense_Mutation_p.E103K			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	103					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TACACTCCTTCCTTTTGGCTG	0.448000													25	111					0	0	0.007291	0	0
MUC16	94025	broad.mit.edu	37	19	9070263	9070263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:9070263G>A	ENST00000397910.4	-	3	17386	c.17183C>T	c.(17182-17184)tCt>tTt	p.S5728F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5730	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCATGTCCAGAAATGGAGGT	0.498000													30	59					0	0	0.007291	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364537	142364537	+	RNA	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:142364537C>T	ENST00000390397.2	+	0	208																											TCGACAAGACCCAGGACTGGG	0.453000													6	24					0	0	0.001984	0	0
CXorf36	79742	broad.mit.edu	37	X	45010966	45010966	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:45010966C>A	ENST00000398000.2	-	5	1307	c.1233G>T	c.(1231-1233)agG>agT	p.R411S	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	411						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						TTCTCAGGGGCCTCAAGATGT	0.532000													35	52					1.22674e-20	1.36081e-20	0.008740	1	0
CNTN5	53942	broad.mit.edu	37	11	99827607	99827607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:99827607C>T	ENST00000524871.1	+	8	1033	c.743C>T	c.(742-744)tCc>tTc	p.S248F	CNTN5_ENST00000527185.1_Missense_Mutation_p.S248F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S248F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S248F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S174F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	248	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CGGTTCATCTCCCAGGAGACA	0.423000													15	43					0	0	0.007413	0	0
LOC644669	644669	broad.mit.edu	37	18	15323340	15323340	+	RNA	SNP	A	A	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:15323340A>G	ENST00000455308.2	-	0	508					NR_027417.1																						CTTATGGCCAATAAAAGTGGT	0.299000													3	10					0	0	0.009096	0	0
TLR4	7099	broad.mit.edu	37	9	120466753	120466753	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:120466753G>A	ENST00000394487.4	+	0	144				TLR4_ENST00000355622.6_Start_Codon_SNP_p.M1I|TLR4_ENST00000472304.1_3'UTR	NM_003266.3	NP_003257.1	O00206	TLR4_HUMAN	toll-like receptor 4						activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATGCCAGGATGATGTCTGCCT	0.602000													10	32					0	0	0.008291	0	0
RPL18	6141	broad.mit.edu	37	19	49120620	49120620	+	Silent	SNP	A	A	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:49120620A>G	ENST00000549273.1	-	3	184	c.151T>C	c.(151-153)Ttg>Ctg	p.L51L	RPL18_ENST00000552588.1_Silent_p.L22L|RPL18_ENST00000550645.1_Silent_p.L51L|RPL18_ENST00000549920.1_Silent_p.L51L			Q07020	RL18_HUMAN	ribosomal protein L18	51					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		CTCATAAACAACCTCTTCAAC	0.567000													55	133					0	0	0.014410	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788613	140788613	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:140788613C>T	ENST00000520790.1	+	1	844	c.844C>T	c.(844-846)Cga>Tga	p.R282*	PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACTACTTCCGAAGCACTGC	0.428000													28	43					0	0	0.006320	0	0
UNC5CL	222643	broad.mit.edu	37	6	41002663	41002663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:41002663C>T	ENST00000244565.3	-	2	239	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	UNC5CL_ENST00000373164.1_Missense_Mutation_p.E51K	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	51					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GACACTGGTTCCTCTTGACCA	0.592000													22	73					0	0	0.014323	0	0
IGLV3-22	28795	broad.mit.edu	37	22	23047219	23047219	+	RNA	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:23047219G>A	ENST00000390307.2	+	0	321																											TCCACCTCAGGGAACACGACC	0.557000													16	28					0	0	0.003163	0	0
OR4X1	390113	broad.mit.edu	37	11	48285898	48285898	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:48285898C>T	ENST00000320048.1	+	1	486	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCCTGATTTTCCAGCTCCCGT	0.562000													11	36					0	0	0.010729	0	0
FBN3	84467	broad.mit.edu	37	19	8206852	8206852	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:8206852G>A	ENST00000600128.1	-	7	1125	c.711C>T	c.(709-711)atC>atT	p.I237I	FBN3_ENST00000270509.2_Silent_p.I237I|FBN3_ENST00000601739.1_Silent_p.I237I			Q75N90	FBN3_HUMAN	fibrillin 3	237	TB 1.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGATATTGGGGATGAAGCCGC	0.627000													20	36					0	0	0.014323	0	0
GH1	2688	broad.mit.edu	37	17	61995482	61995482	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:61995482G>A	ENST00000323322.5	-	3	228	c.186C>T	c.(184-186)atC>atT	p.I62I	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Intron|GH1_ENST00000351388.4_Intron|GH1_ENST00000458650.2_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	62					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GTTCCTTTGGGATATAGGCTT	0.517000													63	167					0	0	0.014410	0	0
PSD	5662	broad.mit.edu	37	10	104176318	104176318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:104176318G>A	ENST00000020673.5	-	2	1004	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	PSD_ENST00000406432.1_Missense_Mutation_p.P160S	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	160	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCTCTGGCGGGGAGTGGGTCT	0.657000													4	6					0	0	0.014758	0	0
LAMB3	3914	broad.mit.edu	37	1	209803960	209803960	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:209803960T>C	ENST00000391911.1	-	8	1332	c.943_splice	c.e8+1	p.R315_splice	LAMB3_ENST00000356082.4_Splice_Site_p.R315_splice|LAMB3_ENST00000367030.3_Splice_Site_p.R315_splice	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	315	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			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)		AAGCTCCTACTTTGGCATTCA	0.612000													20	77					0	0	0.014323	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246227	145246227	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:145246227G>T	ENST00000377976.1	-	2	400	c.401C>A	c.(400-402)aCc>aAc	p.T134N		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	134										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GTCCATTGGGGTTCGAATGAT	0.403000													26	63					9.78306e-22	1.0865e-21	0.009535	1	0
CD163L1	283316	broad.mit.edu	37	12	7528513	7528513	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:7528513A>T	ENST00000313599.3	-	10	2526	c.2469T>A	c.(2467-2469)gaT>gaA	p.D823E	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Missense_Mutation_p.D823E|CD163L1_ENST00000416109.2_Missense_Mutation_p.D833E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	823	SRCR 8.					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						GAAGAGAGAAATCAGAATCAC	0.488000													10	76					0	0	0.013537	0	0
USP29	57663	broad.mit.edu	37	19	57640569	57640569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:57640569G>A	ENST00000254181.4	+	4	980	c.526G>A	c.(526-528)Gat>Aat	p.D176N	USP29_ENST00000598197.1_Missense_Mutation_p.D176N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	176					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTATCATCTGATGTACAGAC	0.353000													27	57					0	0	0.005443	0	0
ZNF749	388567	broad.mit.edu	37	19	57956182	57956182	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:57956182T>C	ENST00000334181.4	+	3	1916	c.1666T>C	c.(1666-1668)Tat>Cat	p.Y556H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GCCAAGGCCTTATGTGTGTAG	0.453000													24	47					0	0	0.014323	0	0
NUDT16	131870	broad.mit.edu	37	3	131100667	131100667	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:131100667C>T	ENST00000521288.1	+	1	50	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	NUDT16_ENST00000537561.1_Intron|NUDT16_ENST00000502852.1_Silent_p.L7L|NUDT16_ENST00000359850.3_5'UTR			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	7						nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						AGCCCGCAGGCTGGAGCTAGG	0.716000													3	5					0	0	0.004672	0	0
GDPD4	220032	broad.mit.edu	37	11	76982221	76982221	+	Silent	SNP	G	G	A	rs139482139		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:76982221G>A	ENST00000315938.4	-	6	604	c.354C>T	c.(352-354)atC>atT	p.I118I	GDPD4_ENST00000376217.2_Silent_p.I118I	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	118					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	p.I118I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GCCAGAAAAGGATAACCATCA	0.488000													11	48					0	0	0.013537	0	0
HCN4	10021	broad.mit.edu	37	15	73636054	73636054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:73636054G>A	ENST00000261917.3	-	2	1874	c.881C>T	c.(880-882)cCc>cTc	p.P294L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	294					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GACAATCCAGGGTGTGGTGTT	0.502000													17	55					0	0	0.004007	0	0
ANAPC1	64682	broad.mit.edu	37	2	112621364	112621364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:112621364G>A	ENST00000341068.3	-	9	1712	c.940C>T	c.(940-942)Cct>Tct	p.P314S		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	314					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GAAGTCACAGGGGAATCTCCT	0.493000													11	32					0	0	0.013537	0	0
MYH15	22989	broad.mit.edu	37	3	108127247	108127247	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:108127247C>T	ENST00000273353.3	-	33	4616	c.4560G>A	c.(4558-4560)gaG>gaA	p.E1520E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1520						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GATTAGAAATCTCTTCTGGAG	0.418000													22	40					0	0	0.014323	0	0
MAPRE2	10982	broad.mit.edu	37	18	32677441	32677441	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:32677441C>T	ENST00000436190.2	+	4	520	c.246C>T	c.(244-246)ctC>ctT	p.L82L	MAPRE2_ENST00000589699.1_Silent_p.L51L|MAPRE2_ENST00000300249.5_Silent_p.L94L|MAPRE2_ENST00000588910.1_Silent_p.L94L|MAPRE2_ENST00000538170.2_Silent_p.L41L|MAPRE2_ENST00000413393.1_Silent_p.L51L	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	94	CH.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						TGGACATGCTCTTCCCTGGCT	0.418000													30	65					0	0	0.010818	0	0
PCDH1	5097	broad.mit.edu	37	5	141236975	141236975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:141236975G>A	ENST00000287008.3	-	4	3308	c.3161C>T	c.(3160-3162)tCc>tTc	p.S1054F	PCDH1_ENST00000503492.1_Missense_Mutation_p.S322F	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					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)		ACTGTGCTGGGATGGGTCCTG	0.622000													5	23					0	0	0.001984	0	0
ERN1	2081	broad.mit.edu	37	17	62132152	62132152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:62132152G>A	ENST00000433197.2	-	14	1804	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	570					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGGACAGAAGGAAATTTTCCC	0.488000													7	6					0	0	0.001984	0	0
COL7A1	1294	broad.mit.edu	37	3	48614163	48614163	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:48614163G>A	ENST00000328333.8	-	67	5753	c.5646C>T	c.(5644-5646)atC>atT	p.I1882I	COL7A1_ENST00000454817.1_Intron	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1882	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGTCCAAGGATACCAGGAG	0.602000													3	17					0	0	0.009096	0	0
IGLV2-18	28814	broad.mit.edu	37	22	23077342	23077342	+	RNA	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:23077342C>T	ENST00000390310.2	+	0	132																											GTCACCATCTCCTGCACTGGA	0.542000													75	219					0	0	0.014410	0	0
MEGF8	1954	broad.mit.edu	37	19	42860510	42860510	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:42860510C>A	ENST00000334370.4	+	25	4961	c.4326C>A	c.(4324-4326)caC>caA	p.H1442Q	MEGF8_ENST00000251268.6_Missense_Mutation_p.H1509Q	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1509	EGF-like 4.					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)				GCTTCCTGCACCGCCTGGGCC	0.652000													10	23					7.03913e-09	7.76277e-09	0.013537	1	0
CD300LD	100131439	broad.mit.edu	37	17	72584677	72584677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:72584677C>T	ENST00000375352.1	-	2	432	c.352G>A	c.(352-354)Gtc>Atc	p.V118I	C17orf77_ENST00000392620.1_Intron	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	118	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						TGAACTTTGACCCCAAGATCA	0.483000													25	73					0	0	0.021523	0	0
RYR3	6263	broad.mit.edu	37	15	34109108	34109108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:34109108G>A	ENST00000389232.4	+	75	10618	c.10548G>A	c.(10546-10548)tgG>tgA	p.W3516*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.W3511*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3516					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAGATTTTGGATAGAAACAG	0.458000													6	16					0	0	0.001984	0	0
LAMC2	3918	broad.mit.edu	37	1	183204779	183204779	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:183204779C>T	ENST00000264144.4	+	16	2435	c.2370C>T	c.(2368-2370)ctC>ctT	p.L790L	LAMC2_ENST00000493293.1_Silent_p.L790L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	790	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AACAAGCCCTCTCACTGGTGC	0.517000											OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	25					0	0	0.014323	0	0
PTPRF	5792	broad.mit.edu	37	1	44056778	44056778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:44056778C>T	ENST00000359947.4	+	9	1425	c.1085C>T	c.(1084-1086)cCc>cTc	p.P362L	PTPRF_ENST00000438120.1_Missense_Mutation_p.P362L|PTPRF_ENST00000372414.3_Missense_Mutation_p.P362L|PTPRF_ENST00000372413.3_Missense_Mutation_p.P362L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	362	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGGAGGGCCCCTTTCAGGAG	0.622000													35	69					0	0	0.005524	0	0
C6	729	broad.mit.edu	37	5	41195920	41195920	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:41195920G>A	ENST00000263413.3	-	5	825	c.561C>T	c.(559-561)atC>atT	p.I187I	C6_ENST00000337836.5_Silent_p.I187I	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	187	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTACACTAGGGATGGGATTAT	0.428000													25	63					0	0	0.006320	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23058222	23058222	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:23058222G>A	ENST00000221132.3	-	5	745	c.681C>T	c.(679-681)atC>atT	p.I227I		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	227					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GGACACACTCGATGTCACTCC	0.587000													34	110					0	0	0.005524	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048421	42048421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:42048421G>A	ENST00000372584.1	-	3	3062	c.2048C>T	c.(2047-2049)cCa>cTa	p.P683L	HIVEP3_ENST00000247584.5_Missense_Mutation_p.P683L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P683L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P683L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	683	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTCAGCTTCTGGAGATGTGTG	0.498000													38	81					0	0	0.008740	0	0
KERA	11081	broad.mit.edu	37	12	91449444	91449444	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:91449444C>T	ENST00000266719.3	-	2	862	c.615G>A	c.(613-615)agG>agA	p.R205R		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	205					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GAGGCATATTCCTCAGGGCAT	0.368000													33	39					0	0	0.015359	0	0
DMXL1	1657	broad.mit.edu	37	5	118487677	118487677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:118487677C>T	ENST00000311085.8	+	19	4728	c.4648C>T	c.(4648-4650)Cat>Tat	p.H1550Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.H1550Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1550										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGTTCGACTCCATACCTTTCT	0.373000													17	58					0	0	0.012319	0	0
POTEC	388468	broad.mit.edu	37	18	14542924	14542924	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:14542924C>T	ENST00000358970.5	-	1	221	c.222G>A	c.(220-222)ggG>ggA	p.G74G	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	74										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCGTGCCGCTCCCCCTGCAGC	0.567000													27	236					0	0	0.005443	0	0
LCE2C	353140	broad.mit.edu	37	1	152648614	152648614	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:152648614C>T	ENST00000368783.1	+	2	178	c.123C>T	c.(121-123)ttC>ttT	p.F41F	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	41	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCATGTTTCCCTGCAGTCT	0.627000													80	99					0	0	0.014410	0	0
NT5C1A	84618	broad.mit.edu	37	1	40126934	40126934	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:40126934C>T	ENST00000235628.1	-	5	557	c.556_splice	c.e5-1	p.G186_splice		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	186					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGCTGCGATCCCTAGGCAGA	0.607000													9	25					0	0	0.006214	0	0
USP11	8237	broad.mit.edu	37	X	47103918	47103918	+	Silent	SNP	C	C	T	rs137968498		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:47103918C>T	ENST00000377107.2	+	14	2166	c.1812C>T	c.(1810-1812)aaC>aaT	p.N604N	USP11_ENST00000218348.3_Silent_p.N647N			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	647					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCAAACCCAACTCAGATGATG	0.547000													17	23					0	0	0.010504	0	0
ZAN	7455	broad.mit.edu	37	7	100350369	100350369	+	RNA	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:100350369C>T	ENST00000542585.1	+	0	2789				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACTCACCATCCCCACGGAAAA	0.502000													39	79					0	0	0.021022	0	0
SACS	26278	broad.mit.edu	37	13	23906647	23906647	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:23906647G>A	ENST00000382298.3	-	10	11956	c.11368C>T	c.(11368-11370)Cag>Tag	p.Q3790*	SACS_ENST00000382292.3_Nonsense_Mutation_p.Q3790*|SACS_ENST00000402364.1_Nonsense_Mutation_p.Q3040*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3790					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCTCGCAACTGAAAACGAAAT	0.383000													18	39					0	0	0.007413	0	0
SSPO	23145	broad.mit.edu	37	7	149474280	149474280	+	RNA	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:149474280C>T	ENST00000378016.2	+	0	324							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCCCTTGCCAAAGCCAGTC	0.622000													4	9					0	0	0.009096	0	0
MC2R	4158	broad.mit.edu	37	18	13884968	13884968	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:13884968G>A	ENST00000327606.3	-	2	730	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	184					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ACCAGCATCAGCGGGAACAGC	0.562000													15	59					0	0	0.020292	0	0
POLQ	10721	broad.mit.edu	37	3	121264614	121264614	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:121264614G>A	ENST00000264233.5	-	1	239	c.111C>T	c.(109-111)tcC>tcT	p.S37S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	37					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GGCTCAGCACGGACCCGGAGA	0.706000								DNA polymerases (catalytic subunits)					5	14					0	0	0.014758	0	0
BRINP2	57795	broad.mit.edu	37	1	177250510	177250510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:177250510C>T	ENST00000361539.4	+	8	2510	c.2198C>T	c.(2197-2199)cCt>cTt	p.P733L	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		733						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTTTCTCCACCTGGCAAAGTC	0.542000													24	88					0	0	0.018920	0	0
TMTC4	84899	broad.mit.edu	37	13	101289912	101289912	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:101289912G>A	ENST00000342624.5	-	9	1137	c.879C>T	c.(877-879)acC>acT	p.T293T	TMTC4_ENST00000376234.3_Silent_p.T274T|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Silent_p.T163T	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	274						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGGTGAGCAGGGTCATTCTGA	0.607000													27	77					0	0	0.009535	0	0
MUC16	94025	broad.mit.edu	37	19	9083416	9083416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:9083416C>T	ENST00000397910.4	-	1	8602	c.8399G>A	c.(8398-8400)gGa>gAa	p.G2800E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2800	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTCTGATTCCTCCAGAGCT	0.507000													10	15					0	0	0.006214	0	0
CST1	1469	broad.mit.edu	37	20	23729758	23729758	+	Silent	SNP	C	C	T	rs146690838	byFrequency	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:23729758C>T	ENST00000304749.2	-	2	307	c.237G>A	c.(235-237)ggG>ggA	p.G79G	CST1_ENST00000398402.1_Silent_p.G79G	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	79						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					AATTCACCCCCCCAACGGTCT	0.567000													61	210					0	0	0.014410	0	0
CADM3	57863	broad.mit.edu	37	1	159169545	159169545	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:159169545C>T	ENST00000368125.4	+	8	1114	c.957C>T	c.(955-957)ccC>ccT	p.P319P	CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Silent_p.P353P|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	319					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TTCCAGACCCCAGTCCGGTGC	0.537000													19	69					0	0	0.018920	0	0
LINC00207	388910	broad.mit.edu	37	22	44966445	44966445	+	RNA	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:44966445G>A	ENST00000605505.1	+	0	223					NR_028409.1															lung(3)	3						TGAACCAGAGGGGAACACCGT	0.502000													4	27					0	0	0.009096	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418651	105418651	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:105418651A>C	ENST00000333244.5	-	7	3256	c.3137T>G	c.(3136-3138)cTc>cGc	p.L1046R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1046						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)			CTGAATGCTGAGGTCAGTGGT	0.617000													55	79					0	0	0.014410	0	0
PDS5A	23244	broad.mit.edu	37	4	39851153	39851153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:39851153G>A	ENST00000303538.8	-	27	3745	c.3206C>T	c.(3205-3207)tCc>tTc	p.S1069F		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1069					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATTTGTCTTGGATTCATCTGG	0.353000													20	74					0	0	0.012319	0	0
OBSCN	84033	broad.mit.edu	37	1	228491482	228491482	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:228491482G>A	ENST00000570156.2	+	52	13919	c.13845G>A	c.(13843-13845)cgG>cgA	p.R4615R	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Silent_p.R1305R|OBSCN_ENST00000366709.4_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3658					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGAGTGGCGGAAGGGGTCTG	0.607000													62	105					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179605128	179605128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:179605128G>A	ENST00000589042.1	-	48	13056	c.12832C>T	c.(12832-12834)Cct>Tct	p.P4278S	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P3915S|TTN_ENST00000342175.6_Missense_Mutation_p.P4107S|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4040S|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P3961S|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3961							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)			ATGACATCAGGACTCTGGAGA	0.463000													7	31					0	0	0.001984	0	0
ZNF18	7566	broad.mit.edu	37	17	11894356	11894356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:11894356G>A	ENST00000322748.3	-	5	1116	c.512C>T	c.(511-513)tCc>tTc	p.S171F	ZNF18_ENST00000580306.1_Missense_Mutation_p.S171F|ZNF18_ENST00000580613.1_Missense_Mutation_p.S120F|ZNF18_ENST00000454073.3_Missense_Mutation_p.S171F	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	171					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGGCCCTGAGGATGAATTCTC	0.522000													153	84					0	0	0.014410	0	0
PTPRB	5787	broad.mit.edu	37	12	70983782	70983782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:70983782C>T	ENST00000334414.6	-	8	2056	c.2012G>A	c.(2011-2013)gGa>gAa	p.G671E	PTPRB_ENST00000551525.1_Missense_Mutation_p.G670E|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.G671E|PTPRB_ENST00000538708.1_Missense_Mutation_p.G453E|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000261266.5_Missense_Mutation_p.G453E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	453	Fibronectin type-III 8.				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)			CTTCAAATTTCCACTCTCAAC	0.453000											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	65					0	0	0.006999	0	0
BRINP3	339479	broad.mit.edu	37	1	190424010	190424010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:190424010C>T	ENST00000367462.3	-	2	242	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	FAM5C_ENST00000534846.1_5'UTR|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		4						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGCTCTGCTTCGCCATATCAT	0.463000													20	29					0	0	0.014323	0	0
CSMD2	114784	broad.mit.edu	37	1	34208985	34208985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:34208985C>T	ENST00000373381.4	-	14	2245	c.2069G>A	c.(2068-2070)gGa>gAa	p.G690E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	650	Sushi 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGCTGGTTTCCTGAGAAGGT	0.587000													31	43					0	0	0.009535	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367213	234367213	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:234367213G>A	ENST00000366618.3	+	3	479	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	SLC35F3_ENST00000366617.3_Missense_Mutation_p.A43T	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	43					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCAGGCACCGGCCGGGGTGGA	0.736000													16	31					0	0	0.007413	0	0
DRC1	92749	broad.mit.edu	37	2	26677552	26677552	+	Missense_Mutation	SNP	C	C	T	rs139106371		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:26677552C>T	ENST00000288710.2	+	15	2031	c.1957C>T	c.(1957-1959)Cgt>Tgt	p.R653C		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		GAAGAATGTGCGTGACAACTC	0.587000													6	84					0	0	0.001984	0	0
NAV2	89797	broad.mit.edu	37	11	19955584	19955584	+	Silent	SNP	C	C	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:19955584C>G	ENST00000396085.1	+	7	2155	c.1794C>G	c.(1792-1794)ctC>ctG	p.L598L	NAV2_ENST00000349880.4_Silent_p.L598L|NAV2_ENST00000540292.1_Silent_p.L552L|NAV2_ENST00000396087.3_Silent_p.L621L|NAV2_ENST00000527559.2_Silent_p.L550L|NAV2_ENST00000360655.4_Silent_p.L534L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	621						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCTCAGGACTCCCCCAGCAGA	0.617000													17	34					0	0	0.007413	0	0
CD163L1	283316	broad.mit.edu	37	12	7528442	7528442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:7528442C>T	ENST00000313599.3	-	10	2597	c.2540G>A	c.(2539-2541)gGa>gAa	p.G847E	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Missense_Mutation_p.G847E|CD163L1_ENST00000416109.2_Missense_Mutation_p.G857E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	847	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.G847V(1)		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						AAAGTGATCTCCCACAGAAAG	0.463000													21	84					0	0	0.014323	0	0
OR9K2	441639	broad.mit.edu	37	12	55524101	55524101	+	Silent	SNP	T	T	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:55524101T>A	ENST00000305377.5	+	1	637	c.549T>A	c.(547-549)atT>atA	p.I183I		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GCTCAGTTATTCAGACTAGCA	0.453000													36	35					0	0	0.019004	0	0
RYR1	6261	broad.mit.edu	37	19	38980829	38980829	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:38980829C>T	ENST00000355481.4	+	36	6059	c.5928C>T	c.(5926-5928)cgC>cgT	p.R1976R	RYR1_ENST00000359596.3_Silent_p.R1976R|RYR1_ENST00000360985.3_Silent_p.R1976R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1976	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCGGAGCCGCTATGGCCTCC	0.602000													11	34					0	0	0.013537	0	0
LAMA3	3909	broad.mit.edu	37	18	21526119	21526119	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:21526119C>T	ENST00000313654.9	+	70	9463	c.9222C>T	c.(9220-9222)ggC>ggT	p.G3074G	LAMA3_ENST00000269217.6_Silent_p.G1465G|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.G1409G|LAMA3_ENST00000399516.3_Silent_p.G3018G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3074	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTGTTTGGCCATGATGGGG	0.443000													16	87					0	0	0.006122	0	0
MKL1	57591	broad.mit.edu	37	22	40819553	40819553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:40819553G>A	ENST00000396617.3	-	9	1204	c.614C>T	c.(613-615)cCc>cTc	p.P205L	MKL1_ENST00000402042.1_Intron|MKL1_ENST00000407029.1_Missense_Mutation_p.P205L|MKL1_ENST00000355630.3_Missense_Mutation_p.P205L			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	205	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						AATGAGTGTGGGGGTGGACTT	0.572000			T	RBM15	acute megakaryocytic leukemia								15	39					0	0	0.003163	0	0
MT3	4504	broad.mit.edu	37	16	56623498	56623498	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:56623498T>G	ENST00000561640.1	+	2	177	c.131T>G	c.(130-132)cTc>cGc	p.L44R	MT3_ENST00000570176.1_5'UTR|MT3_ENST00000200691.4_5'UTR|MT3_ENST00000565838.1_Intron|MT3_ENST00000566576.1_3'UTR			P25713	MT3_HUMAN	metallothionein 3	0	Alpha.				cell proliferation|cellular metal ion homeostasis|removal of superoxide radicals|response to hypoxia	synaptic vesicle	antioxidant activity|copper ion binding|zinc ion binding			central_nervous_system(1)|large_intestine(1)	2						GCTGCTCTCCTCGACATGGAC	0.657000													14	42					0	0	0.004990	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(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)			34	76					3.62531e-18	4.01677e-18	0.019004	1	0
OR1N2	138882	broad.mit.edu	37	9	125315488	125315488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:125315488G>A	ENST00000373688.2	+	1	98	c.40G>A	c.(40-42)Ggg>Agg	p.G14R		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CGAACTACAAGGGATGGGAAA	0.453000													27	69					0	0	0.004656	0	0
XIRP2	129446	broad.mit.edu	37	2	168101126	168101126	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:168101126A>C	ENST00000409195.1	+	9	3313	c.3224A>C	c.(3223-3225)gAa>gCa	p.E1075A	XIRP2_ENST00000295237.9_Missense_Mutation_p.E1075A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E853A|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	900					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						GATGTGGAAGAAACAGAAAGT	0.348000													7	15					0	0	0.001984	0	0
MCTP1	79772	broad.mit.edu	37	5	94353169	94353169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:94353169C>T	ENST00000515393.1	-	2	739	c.740G>A	c.(739-741)gGa>gAa	p.G247E	MCTP1_ENST00000312216.8_Missense_Mutation_p.G26E|MCTP1_ENST00000505208.1_Missense_Mutation_p.G26E|MCTP1_ENST00000429576.2_Missense_Mutation_p.G26E	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	247					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ATTACTGGTTCCAGCAGTGTT	0.378000													30	46					0	0	0.008361	0	0
ANKHD1	54882	broad.mit.edu	37	5	139905704	139905704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:139905704C>T	ENST00000297183.6	+	26	4740	c.4616C>T	c.(4615-4617)cCc>cTc	p.P1539L	ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1539L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1539L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACAACTCCCAGCACCAAT	0.413000													50	106					0	0	0.014410	0	0
ABCB1	5243	broad.mit.edu	37	7	87179824	87179824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:87179824C>T	ENST00000265724.3	-	12	1601	c.1184G>A	c.(1183-1185)aGa>aAa	p.R395K	ABCB1_ENST00000543898.1_Missense_Mutation_p.R331K	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	395	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTGAACATTTCTGAATTCCAA	0.313000													18	55					0	0	0.008871	0	0
BACH1	571	broad.mit.edu	37	21	30693751	30693751	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:30693751C>T	ENST00000399921.1	+	2	393	c.150C>T	c.(148-150)tcC>tcT	p.S50S	BACH1_ENST00000286800.3_Silent_p.S50S	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	50	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CTCACCGGTCCGTGCTGGCGG	0.527000													19	60					0	0	0.010504	0	0
HPR	3250	broad.mit.edu	37	16	72107798	72107798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:72107798G>A	ENST00000540303.2	+	2	45	c.13G>A	c.(13-15)Gga>Aga	p.G5R	HPR_ENST00000561690.1_Missense_Mutation_p.G5R|HPR_ENST00000356967.5_Missense_Mutation_p.G5R|HPR_ENST00000228226.8_Missense_Mutation_p.G42R	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	5					proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CAGTGACCTGGGAGCTGTCAT	0.512000													34	100					0	0	0.007835	0	0
CCDC181	57821	broad.mit.edu	37	1	169390915	169390915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:169390915G>A	ENST00000545005.1	-	4	1261	c.754C>T	c.(754-756)Cct>Tct	p.P252S	CCDC181_ENST00000367805.3_Missense_Mutation_p.P252S|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.P252S					coiled-coil domain containing 181																		AACTGCTGAGGGTCATTTTCT	0.418000													52	66					0	0	0.014410	0	0
MKLN1	4289	broad.mit.edu	37	7	131149126	131149126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:131149126C>T	ENST00000352689.6	+	14	1787	c.1747C>T	c.(1747-1749)Cca>Tca	p.P583S	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.P491S	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	583					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AGAACCATGTCCAAGGTTTGC	0.408000													7	26					0	0	0.006214	0	0
SLC35F3	148641	broad.mit.edu	37	1	234454656	234454656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:234454656G>A	ENST00000366618.3	+	6	1259	c.1114G>A	c.(1114-1116)Gga>Aga	p.G372R	SLC35F3_ENST00000366617.3_Missense_Mutation_p.G303R	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	303					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CATTCCATGGGGAAACCTTTG	0.423000													87	143					0	0	0.014410	0	0
IRF7	3665	broad.mit.edu	37	11	612716	612716	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:612716A>G	ENST00000397566.1	-	9	1889	c.1480T>C	c.(1480-1482)Tgc>Cgc	p.C494R	IRF7_ENST00000397574.2_Missense_Mutation_p.C481R|IRF7_ENST00000397570.1_Missense_Mutation_p.C452R|IRF7_ENST00000348655.6_Missense_Mutation_p.C452R|IRF7_ENST00000525445.1_Missense_Mutation_p.C375R|IRF7_ENST00000397562.3_Missense_Mutation_p.C188R|IRF7_ENST00000330243.5_Missense_Mutation_p.C494R	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	481					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|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;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGACAGGCAGAGGCTGAGG	0.602000													20	48					0	0	0.012319	0	0
DNAH7	56171	broad.mit.edu	37	2	196788411	196788411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:196788411G>A	ENST00000312428.6	-	23	3833	c.3733C>T	c.(3733-3735)Cat>Tat	p.H1245Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1245	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTCTAGCATGGACATCCAGT	0.413000													9	40					0	0	0.004482	0	0
ADCY4	196883	broad.mit.edu	37	14	24787742	24787742	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:24787742G>A	ENST00000310677.4	-	26	3227	c.3114C>T	c.(3112-3114)tcC>tcT	p.S1038S	ADCY4_ENST00000418030.2_Silent_p.S1038S|ADCY4_ENST00000554068.2_Silent_p.S1038S	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1038					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGTAGCCCAGGGACTGTAGGG	0.577000													20	51					0	0	0.014323	0	0
PDE8A	5151	broad.mit.edu	37	15	85669540	85669540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:85669540C>T	ENST00000310298.4	+	21	2440	c.2188C>T	c.(2188-2190)Ccc>Tcc	p.P730S	PDE8A_ENST00000339708.5_Missense_Mutation_p.P684S|PDE8A_ENST00000557957.1_Missense_Mutation_p.P658S|PDE8A_ENST00000394553.1_Missense_Mutation_p.P730S			O60658	PDE8A_HUMAN	phosphodiesterase 8A	730	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGTGTCCAATCCCTGCCGACC	0.448000													51	57					0	0	0.014410	0	0
RELN	5649	broad.mit.edu	37	7	103281034	103281034	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:103281034G>A	ENST00000428762.1	-	17	2184	c.2025C>T	c.(2023-2025)ctC>ctT	p.L675L	RELN_ENST00000343529.5_Silent_p.L675L|RELN_ENST00000424685.2_Silent_p.L675L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	675	EGF-like 1.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACAGAATTTGAGACATGACG	0.363000													8	25					0	0	0.004482	0	0
UGT1A6	54578	broad.mit.edu	37	2	234680923	234680923	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:234680923C>T	ENST00000305139.6	+	5	1456	c.1317C>T	c.(1315-1317)atC>atT	p.I439I	UGT1A5_ENST00000373414.3_Silent_p.I441I|UGT1A6_ENST00000373424.1_Silent_p.I172I|UGT1A7_ENST00000373426.3_Silent_p.I437I|UGT1A8_ENST00000373450.4_Silent_p.I437I|UGT1A9_ENST00000354728.4_Silent_p.I437I|UGT1A3_ENST00000482026.1_Silent_p.I441I|UGT1A4_ENST00000373409.3_Silent_p.I441I|UGT1A1_ENST00000305208.5_Silent_p.I440I|UGT1A10_ENST00000344644.5_Silent_p.I437I	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		AGGAGAACATCATGCGCCTCT	0.537000													8	37					0	0	0.003080	0	0
PIWIL1	9271	broad.mit.edu	37	12	130830321	130830321	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:130830321C>T	ENST00000245255.3	+	4	486	c.214C>T	c.(214-216)Cag>Tag	p.Q72*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	72					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGCTGGATTTCAGGAGTTATC	0.373000													12	25					0	0	0.013537	0	0
ZNF679	168417	broad.mit.edu	37	7	63720636	63720636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:63720636C>T	ENST00000421025.1	+	3	346	c.77C>T	c.(76-78)tCt>tTt	p.S26F	ZNF679_ENST00000255746.4_Missense_Mutation_p.S26F	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATAGAATTCTCTCTGGAGGAG	0.418000													25	51					0	0	0.016522	0	0
GPR124	25960	broad.mit.edu	37	8	37692876	37692876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:37692876C>T	ENST00000412232.2	+	12	1806	c.1793C>T	c.(1792-1794)aCc>aTc	p.T598I	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	598					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CGCTGCACCACCGGGAGGCCC	0.687000													9	23					0	0	0.008291	0	0
FCN2	2220	broad.mit.edu	37	9	137776591	137776591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:137776591C>T	ENST00000350339.2	+	3	174	c.160C>T	c.(160-162)Cct>Tct	p.P54S	FCN2_ENST00000291744.6_Missense_Mutation_p.P92S	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	92	Collagen-like.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AACAGGAGCACCTGGGGAGCC	0.617000													8	32					0	0	0.006214	0	0
ARID4B	51742	broad.mit.edu	37	1	235346091	235346091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:235346091C>T	ENST00000264183.3	-	20	2640	c.2143G>A	c.(2143-2145)Gaa>Aaa	p.E715K	ARID4B_ENST00000349213.3_Missense_Mutation_p.E629K|ARID4B_ENST00000366603.2_Missense_Mutation_p.E715K	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCACTGTCTTCAGCAGAACTT	0.363000													45	35					0	0	0.014410	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795495	142795495	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:142795495C>T	ENST00000370498.1	-	2	936	c.183G>A	c.(181-183)acG>acA	p.T61T		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	61										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AATTTATTTTCGTATGCTTCC	0.443000													58	58					0	0	0.014410	0	0
RASEF	158158	broad.mit.edu	37	9	85627360	85627360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:85627360C>T	ENST00000376447.3	-	5	1092	c.832G>A	c.(832-834)Gat>Aat	p.D278N		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	278					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATTGATAAATCATAAATTTGT	0.363000													6	22					0	0	0.001984	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120944	38120944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:38120944C>T	ENST00000406386.3	+	7	2636	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	794					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCAGAACATCCTGTGCCCAG	0.532000													28	77					0	0	0.008361	0	0
CLPS	1208	broad.mit.edu	37	6	35765054	35765054	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:35765054G>A	ENST00000259938.2	-	1	34	c.12C>T	c.(10-12)atC>atT	p.I4I		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	4					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						GGAGGATCAGGATCTTCTCCA	0.607000													17	87					0	0	0.007413	0	0
TGM3	7053	broad.mit.edu	37	20	2308917	2308917	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:2308917C>T	ENST00000381458.5	+	9	1302	c.1239C>T	c.(1237-1239)tcC>tcT	p.S413S		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	413					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|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)	GGAAGAATTCCGTGAACAGTC	0.537000													15	74					0	0	0.003163	0	0
PAX4	5078	broad.mit.edu	37	7	127253841	127253841	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:127253841G>A	ENST00000341640.2	-	4	712	c.507C>T	c.(505-507)ttC>ttT	p.F169F	PAX4_ENST00000463946.1_Silent_p.F167F|PAX4_ENST00000338516.3_Silent_p.F177F|PAX4_ENST00000378740.2_Silent_p.F169F	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	177					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCTTGGGGAGAAGATAGTCC	0.612000													36	71					0	0	0.005524	0	0
CCDC158	339965	broad.mit.edu	37	4	77324342	77324342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:77324342C>T	ENST00000388914.3	-	2	171	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	CCDC158_ENST00000504868.1_5'UTR|CCDC158_ENST00000434846.2_Missense_Mutation_p.E7K	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	7										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTATTTGATTCCCAAGCTTTT	0.323000													12	30					0	0	0.003163	0	0
TDRD6	221400	broad.mit.edu	37	6	46660361	46660361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:46660361C>T	ENST00000544460.1	+	1	4750	c.4496C>T	c.(4495-4497)tCt>tTt	p.S1499F	TDRD6_ENST00000316081.6_Missense_Mutation_p.S1499F	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1499					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGTTCAAAGTCTGTTAACAAA	0.358000													15	48					0	0	0.003163	0	0
AQR	9716	broad.mit.edu	37	15	35202393	35202393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:35202393G>A	ENST00000156471.5	-	17	1831	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	536						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACATCTGCACGAACTCGGGTT	0.448000													39	97					0	0	0.009718	0	0
DHX9	1660	broad.mit.edu	37	1	182845222	182845222	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:182845222C>T	ENST00000367549.3	+	17	1963	c.1853C>T	c.(1852-1854)cCa>cTa	p.P618L		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	618					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GAATATGGTCCAGAAACAAGG	0.388000													17	61					0	0	0.004990	0	0
CEP89	84902	broad.mit.edu	37	19	33406264	33406264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:33406264G>A	ENST00000305768.4	-	14	1632	c.1544C>T	c.(1543-1545)tCa>tTa	p.S515L		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	515						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						ATTCACAATTGATTTATGAAC	0.393000													24	60					0	0	0.004656	0	0
ATP10D	57205	broad.mit.edu	37	4	47561023	47561023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:47561023C>T	ENST00000273859.3	+	13	2787	c.2518C>T	c.(2518-2520)Cgt>Tgt	p.R840C	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	840					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACAAGGCCTTCGTACTTTATG	0.418000													23	58					0	0	0.014323	0	0
NUP210L	91181	broad.mit.edu	37	1	154090314	154090314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:154090314C>T	ENST00000368559.3	-	12	1578	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	NUP210L_ENST00000271854.3_Missense_Mutation_p.E503K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	503						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACCACTGTTTCATTAGAAGAA	0.408000													43	41					0	0	0.011902	0	0
OR52E2	119678	broad.mit.edu	37	11	5080058	5080058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:5080058C>T	ENST00000321522.2	-	1	799	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGGCACATTTCGGCCAAAGCG	0.478000													16	49					0	0	0.004990	0	0
OSBPL10	114884	broad.mit.edu	37	3	31725152	31725152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:31725152G>A	ENST00000396556.2	-	8	1822	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F	OSBPL10_ENST00000438237.2_Missense_Mutation_p.S503F	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	567					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GACCCCCACGGACATGCCCAT	0.478000													37	101					0	0	0.007835	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794283	21794283	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:21794283C>T	ENST00000206660.6	+	16	2661	c.2661C>T	c.(2659-2661)ggC>ggT	p.G887G	RPGRIP1_ENST00000557771.1_Silent_p.G849G|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Silent_p.G887G|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Silent_p.G246G			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	887	C2.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CGTATCTTGGCCGAGCCCGAG	0.483000													10	23					0	0	0.008291	0	0
C1orf168	199920	broad.mit.edu	37	1	57258104	57258104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:57258104C>T	ENST00000343433.6	-	2	462	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	128										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ATTACTTTTTCCTTAGTGATT	0.428000													53	94					0	0	0.014410	0	0
EMR3	84658	broad.mit.edu	37	19	14765866	14765866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:14765866C>T	ENST00000253673.5	-	6	605	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	EMR3_ENST00000443157.2_Intron|EMR3_ENST00000344373.4_Missense_Mutation_p.E117K|EMR3_ENST00000599900.1_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	169					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ACTTTCGATTCCACATCCCGG	0.408000													35	65					0	0	0.015359	0	0
CHD9	80205	broad.mit.edu	37	16	53331032	53331032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:53331032C>T	ENST00000566029.1	+	30	5884	c.5675C>T	c.(5674-5676)tCc>tTc	p.S1892F	CHD9_ENST00000398510.3_Missense_Mutation_p.S1892F|CHD9_ENST00000564845.1_Missense_Mutation_p.S1892F|CHD9_ENST00000447540.1_Missense_Mutation_p.S1892F			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1892					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCATTCATGTCCATGTGTCGG	0.373000													34	100					0	0	0.005524	0	0
RGPD4	285190	broad.mit.edu	37	2	108488640	108488640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:108488640C>T	ENST00000408999.3	+	20	4257	c.4180C>T	c.(4180-4182)Cgt>Tgt	p.R1394C	RGPD4_ENST00000354986.4_Missense_Mutation_p.R1394C	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1394	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TAAGCAAGTTCGTATAGTGAT	0.358000													101	224					0	0	0.014410	0	0
LTBP3	4054	broad.mit.edu	37	11	65315177	65315177	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:65315177C>T	ENST00000301873.5	-	13	2230	c.1962G>A	c.(1960-1962)ggG>ggA	p.G654G	LTBP3_ENST00000532932.1_Silent_p.G84G|LTBP3_ENST00000536982.1_Silent_p.G280G|LTBP3_ENST00000322147.4_Silent_p.G654G	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	654	Cys-rich.|EGF-like 4; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						ACGAGCGCCCCCCGGCGCCCA	0.736000													9	14					0	0	0.004482	0	0
PTPRT	11122	broad.mit.edu	37	20	40710567	40710567	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:40710567G>A	ENST00000373198.3	-	31	4528	c.4293C>T	c.(4291-4293)atC>atT	p.I1431I	PTPRT_ENST00000373201.1_Silent_p.I1399I|PTPRT_ENST00000373190.1_Silent_p.I1408I|PTPRT_ENST00000356100.2_Silent_p.I1418I|PTPRT_ENST00000373184.1_Silent_p.I1419I|PTPRT_ENST00000373187.1_Silent_p.I1409I|PTPRT_ENST00000373193.3_Silent_p.I1412I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1409	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTGTTTTCACGATGTGGAACA	0.502000													31	82					0	0	0.013726	0	0
PXDNL	137902	broad.mit.edu	37	8	52567284	52567284	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:52567284C>T	ENST00000356297.4	-	2	301	c.201G>A	c.(199-201)ggG>ggA	p.G67G	PXDNL_ENST00000543296.1_Silent_p.G67G	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	67					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGAAGGCGCTCCCTGGAATTT	0.373000													16	35					0	0	0.004990	0	0
NLRP3	114548	broad.mit.edu	37	1	247587738	247587738	+	Silent	SNP	C	C	T	rs104895401		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:247587738C>T	ENST00000366497.2	+	4	1773	c.993C>T	c.(991-993)ctC>ctT	p.L331L	NLRP3_ENST00000391828.3_Silent_p.L331L|NLRP3_ENST00000336119.3_Silent_p.L331L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.L331L|NLRP3_ENST00000391827.2_Silent_p.L331L|NLRP3_ENST00000348069.2_Silent_p.L331L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	331	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L331L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAGACATTCTCCTGAGCAGCC	0.582000													30	102					0	0	0.007291	0	0
MRPS28	28957	broad.mit.edu	37	8	80831226	80831226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:80831226G>A	ENST00000276585.4	-	3	575	c.553C>T	c.(553-555)Cat>Tat	p.H185Y	MRPS28_ENST00000521434.1_Missense_Mutation_p.H123Y|MRPS28_ENST00000521605.1_3'UTR	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	185						mitochondrial small ribosomal subunit				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			TATTTTTCATGATGTTCTTCT	0.363000													30	55					0	0	0.019004	0	0
TRPM1	4308	broad.mit.edu	37	15	31294925	31294925	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:31294925G>A	ENST00000542188.1	-	27	4342	c.4029C>T	c.(4027-4029)ttC>ttT	p.F1343F	TRPM1_ENST00000397795.2_Silent_p.F1304F|TRPM1_ENST00000256552.6_Silent_p.F1326F|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1304					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCTTTATACGGAAGGAACAGG	0.453000													26	78					0	0	0.005443	0	0
OR51F2	119694	broad.mit.edu	37	11	4842868	4842868	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:4842868C>T	ENST00000322110.5	+	1	318	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	85					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)		AGCCACAGACCTGAGCTTGTC	0.473000													42	102					0	0	0.006999	0	0
ZNF98	148198	broad.mit.edu	37	19	22575475	22575475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:22575475C>T	ENST00000357774.5	-	4	683	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AATGACTTTTCACATTCTTTA	0.308000													5	6					0	0	0.001984	0	0
CD5	921	broad.mit.edu	37	11	60886998	60886998	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:60886998G>A	ENST00000347785.3	+	5	922	c.756G>A	c.(754-756)agG>agA	p.R252R		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	252	SRCR 2.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		ATTGCTTCAGGAAAATCAAGC	0.572000													16	34					0	0	0.006122	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6981158	6981158	+	RNA	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:6981158C>T	ENST00000600751.1	-	0	521					NR_024075.1																						TGCTCAACTCCACGCTTTGAA	0.393000													7	19					0	0	0.001984	0	0
XDH	7498	broad.mit.edu	37	2	31611135	31611135	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:31611135C>T	ENST00000379416.3	-	7	570	c.522G>A	c.(520-522)ggG>ggA	p.G174G	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	174					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			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)	TTGGATTATTCCCATCTCCTC	0.443000													26	64					0	0	0.008361	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217185	150217185	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:150217185A>C	ENST00000313543.4	+	2	280	c.123A>C	c.(121-123)caA>caC	p.Q41H		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	41							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGCTGCCCAAGCTGTTACCA	0.502000													13	44					0	0	0.020292	0	0
CXorf21	80231	broad.mit.edu	37	X	30577862	30577862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:30577862G>A	ENST00000378962.3	-	3	933	c.611C>T	c.(610-612)cCt>cTt	p.P204L		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	204										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ATTAGAAATAGGATTCTGCAT	0.423000													34	51					0	0	0.021022	0	0
TTN	7273	broad.mit.edu	37	2	179603068	179603068	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:179603068C>T	ENST00000589042.1	-	49	14336	c.14112G>A	c.(14110-14112)agG>agA	p.R4704R	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Silent_p.R4341R|TTN_ENST00000342175.6_Silent_p.R4533R|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.R4466R|TTN_ENST00000342992.6_Silent_p.R3460R|TTN_ENST00000591111.1_Silent_p.R4387R|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4387	Ig-like 27.						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)			GTTCGATTTTCCTCTTGATCA	0.468000													10	22					0	0	0.006214	0	0
SAV1	60485	broad.mit.edu	37	14	51132229	51132229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:51132229G>A	ENST00000324679.4	-	2	566	c.203C>T	c.(202-204)tCa>tTa	p.S68L		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	68					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CTGGTTTCTTGAAACTACATC	0.403000													6	21					0	0	0.001984	0	0
DSCAM	1826	broad.mit.edu	37	21	41414576	41414576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:41414576G>A	ENST00000400454.1	-	32	5885	c.5408C>T	c.(5407-5409)tCc>tTc	p.S1803F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1803					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACTTTCTGTGGAGACCATGCT	0.542000													18	46					0	0	0.004990	0	0
CYP2C9	1559	broad.mit.edu	37	10	96708999	96708999	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:96708999C>T	ENST00000260682.6	+	5	789	c.777C>T	c.(775-777)aaC>aaT	p.N259N		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	259					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)	ACATGAACAACCCTCAGGACT	0.333000													14	21					0	0	0.003163	0	0
DDIT4L	115265	broad.mit.edu	37	4	101109086	101109086	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:101109086C>T	ENST00000273990.2	-	3	544	c.330G>A	c.(328-330)gtG>gtA	p.V110V	RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	110					negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TTTCCAAGTTCACGTGCATAA	0.463000													14	38					0	0	0.016723	0	0
PAPPA2	60676	broad.mit.edu	37	1	176681030	176681030	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:176681030C>T	ENST00000367662.3	+	12	4875	c.3711C>T	c.(3709-3711)ccC>ccT	p.P1237P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1237					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTGGTTTCCCTGTGTTGCCA	0.453000													22	75					0	0	0.014323	0	0
ANKS1B	56899	broad.mit.edu	37	12	100219094	100219094	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:100219094C>T	ENST00000547776.2	-	2	207	c.208G>A	c.(208-210)Gga>Aga	p.G70R	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G70R	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	70						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TACTTATGTCCATTTAAGGCT	0.438000													9	8					0	0	0.010729	0	0
FZD5	7855	broad.mit.edu	37	2	208632177	208632177	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:208632177G>A	ENST00000295417.3	-	2	1840	c.1287C>T	c.(1285-1287)atC>atT	p.I429I		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	429					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TGACGCTGCGGATGCGGAAGA	0.647000													11	30					0	0	0.008291	0	0
TNR	7143	broad.mit.edu	37	1	175328850	175328850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:175328850C>T	ENST00000367674.1	-	15	3580	c.2872G>A	c.(2872-2874)Gat>Aat	p.D958N	TNR_ENST00000263525.2_Missense_Mutation_p.D958N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	958	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCAATCAGATCCACAGGGTTG	0.463000													24	26					0	0	0.004656	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43837663	43837663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:43837663G>A	ENST00000389420.3	-	16	2220	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P741S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	741	Spacer.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCTCCTGCGGGAATCTTTACA	0.373000													33	61					0	0	0.021022	0	0
TENM1	10178	broad.mit.edu	37	X	123517662	123517662	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:123517662G>A	ENST00000422452.2	-	30	7182	c.7119C>T	c.(7117-7119)ttC>ttT	p.F2373F	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.F2366F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATTTAGTAAGGAAATCATAGA	0.408000													27	30					0	0	0.006320	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375832	93375832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:93375832G>A	ENST00000375765.3	-	2	666	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	93					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CTCCTCCAAGGACTGTCGGCT	0.582000													33	83					0	0	0.010818	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47230265	47230265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:47230265C>T	ENST00000300404.2	+	4	696	c.637C>T	c.(637-639)Cca>Tca	p.P213S	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.P127S|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.P153S	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	213					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GGTTCCCATCCCAGGTAAGTA	0.592000													3	16					0	0	0.009096	0	0
CNGA2	1260	broad.mit.edu	37	X	150906979	150906979	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:150906979G>A	ENST00000329903.4	+	1	57	c.24G>A	c.(22-24)gtG>gtA	p.V8V		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	8					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCAATGGTGTGAAGAGCTCCC	0.522000													46	81					0	0	0.014410	0	0
STAC	6769	broad.mit.edu	37	3	36526476	36526476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:36526476G>A	ENST00000273183.3	+	4	797	c.497G>A	c.(496-498)gGg>gAg	p.G166E	STAC_ENST00000457375.2_Intron|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	166					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CAGCCAAAGGGGTTTCGGCGT	0.463000													14	34					0	0	0.003163	0	0
OR4A47	403253	broad.mit.edu	37	11	48511046	48511046	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:48511046C>T	ENST00000446524.1	+	1	778	c.702C>T	c.(700-702)gcC>gcT	p.A234A		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGCAAAAAGCCCTCTCAACCT	0.433000													39	78					0	0	0.019004	0	0
LOC440040	440040	broad.mit.edu	37	11	49598212	49598212	+	RNA	SNP	T	T	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:49598212T>C	ENST00000527477.1	+	0	816																											TTCCTTCTGCTCCAAGAAGCC	0.493000													13	18					0	0	0.016723	0	0
TRAV1-2	28692	broad.mit.edu	37	14	22111558	22111558	+	RNA	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:22111558G>A	ENST00000390423.2	+	0	162																											AGCCCACTGAGATGACAGCTA	0.493000													19	61					0	0	0.007413	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986647	11986647	+	RNA	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:11986647C>T	ENST00000434078.2	+	0	608					NR_027425.1																						GGAGCCAAATCGTCACAGAGG	0.552000													10	79					0	0	0.020292	0	0
CAPN13	92291	broad.mit.edu	37	2	30954249	30954249	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:30954249G>A	ENST00000295055.8	-	21	2120	c.1944C>T	c.(1942-1944)ctC>ctT	p.L648L	CAPN13_ENST00000534090.2_Silent_p.L648L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	648	EF-hand 2.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CATCCTTAGAGAGGTTGCGGA	0.557000													8	19					0	0	0.004482	0	0
TECTA	7007	broad.mit.edu	37	11	121008170	121008170	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:121008170C>T	ENST00000392793.1	+	11	3253	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	TECTA_ENST00000264037.2_Silent_p.I994I			O75443	TECTA_HUMAN	tectorin alpha	994	TIL 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGGAGTGCATCACATGTACAG	0.537000													25	29					0	0	0.005443	0	0
DNAH5	1767	broad.mit.edu	37	5	13885137	13885137	+	Missense_Mutation	SNP	G	G	A	rs143673459		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:13885137G>A	ENST00000265104.4	-	19	3048	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	982	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATACGTTTGCGAATGGCCTCT	0.438000									Kartagener syndrome				25	46					0	0	0.021523	0	0
SCN11A	11280	broad.mit.edu	37	3	38949448	38949448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:38949448G>A	ENST00000302328.3	-	10	1663	c.1465C>T	c.(1465-1467)Caa>Taa	p.Q489*	SCN11A_ENST00000456224.3_Nonsense_Mutation_p.Q489*|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.Q489*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.Q489*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	489					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)	ACCTTTTTTTGGCAATCTTCA	0.383000													22	49					0	0	0.018920	0	0
OR1B1	347169	broad.mit.edu	37	9	125390894	125390894	+	Silent	SNP	G	G	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:125390894G>C	ENST00000304833.3	-	1	958	c.921C>G	c.(919-921)ctC>ctG	p.L307L	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GCAGCCTGCAGAGTGCACCCT	0.473000													24	33					0	0	0.021523	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131203	52131203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:52131203G>A	ENST00000222107.4	-	5	1019	c.881C>T	c.(880-882)tCc>tTc	p.S294F	SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S294F|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S294F|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.S294F|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S294F			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	294	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CCCGGTATTGGAGATGGGGGT	0.622000													29	70					0	0	0.008361	0	0
MEGF8	1954	broad.mit.edu	37	19	42840432	42840432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:42840432C>T	ENST00000334370.4	+	6	1813	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	MEGF8_ENST00000251268.6_Missense_Mutation_p.S393F	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	393						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)				ACTGGCCACTCCATGGTGTTC	0.657000													11	28					0	0	0.010729	0	0
RAD51D	5892	broad.mit.edu	37	17	33443910	33443910	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:33443910G>A	ENST00000590016.1	-	3	490	c.291C>T	c.(289-291)ttC>ttT	p.F97F	RAD51D_ENST00000335858.7_Intron|RAD51D_ENST00000360276.3_Intron|RAD51D_ENST00000590380.1_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000460118.2_Intron|RAD51D_ENST00000394589.4_Intron|RAD51D_ENST00000345365.6_Intron	NM_001142571.1	NP_001136043.1	O75771	RA51D_HUMAN	RAD51 paralog D	88					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ctcgttcatcgaaagcattca	0.493000								Direct reversal of damage					3	7					0	0	0.004672	0	0
RELN	5649	broad.mit.edu	37	7	103126741	103126741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:103126741C>T	ENST00000428762.1	-	61	10045	c.9886G>A	c.(9886-9888)Ggg>Agg	p.G3296R	RELN_ENST00000343529.5_Missense_Mutation_p.G3296R|RELN_ENST00000424685.2_Missense_Mutation_p.G3296R|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3296					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCAGCTGCCCACAGCCACTT	0.512000													24	62					0	0	0.006320	0	0
CDYL	9425	broad.mit.edu	37	6	4735069	4735069	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:4735069C>T	ENST00000328908.5	+	3	308	c.177C>T	c.(175-177)ccC>ccT	p.P59P				Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	59					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGCAGCCTCCCGCTTTACAGG	0.552000													34	53					0	0	0.013726	0	0
GBE1	2632	broad.mit.edu	37	3	81810613	81810613	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:81810613T>A	ENST00000429644.2	-	1	699	c.56A>T	c.(55-57)aAt>aTt	p.N19I		NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	19					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CAGGGCGGCATTGAGCGCCGC	0.672000									Glycogen Storage Disease, type IV				9	25					0	0	0.004482	0	0
POU6F2	11281	broad.mit.edu	37	7	39379543	39379543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:39379543C>T	ENST00000518318.2	+	5	856	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S	POU6F2_ENST00000403058.1_Missense_Mutation_p.P272S|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.P264S			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	272	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gagctccagccccCCGCAGAA	0.622000													19	46					0	0	0.008871	0	0
CUX1	1523	broad.mit.edu	37	7	101882657	101882657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:101882657C>T	ENST00000360264.3	+	23	3733	c.3713C>T	c.(3712-3714)tCt>tTt	p.S1238F	CUX1_ENST00000550008.2_Missense_Mutation_p.S1171F|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.S1227F|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.S1069F|CUX1_ENST00000549414.2_Missense_Mutation_p.S1205F|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.S1125F	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1227					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAACCGCCCTCTGTCGGCACC	0.662000													14	24					0	0	0.004990	0	0
CA1	759	broad.mit.edu	37	8	86244781	86244781	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:86244781C>T	ENST00000523953.1	-	7	1497	c.450_splice	c.e7-1	p.V151_splice	CA1_ENST00000256119.5_Splice_Site_p.V151_splice|CA1_ENST00000432364.2_Splice_Site_p.V151_splice|CA1_ENST00000431316.1_Splice_Site_p.V151_splice|CA1_ENST00000542576.1_Splice_Site_p.V151_splice|CA1_ENST00000523022.1_Splice_Site_p.V151_splice|CA1_ENST00000522389.1_Intron			P00915	CAH1_HUMAN	carbonic anhydrase I	151					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCTCACCAACCTGGAGATTT	0.328000													8	33					0	0	0.006214	0	0
LTBP3	4054	broad.mit.edu	37	11	65315176	65315176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:65315176C>T	ENST00000301873.5	-	13	2231	c.1963G>A	c.(1963-1965)Ggg>Agg	p.G655R	LTBP3_ENST00000532932.1_Missense_Mutation_p.G85R|LTBP3_ENST00000536982.1_Missense_Mutation_p.G281R|LTBP3_ENST00000322147.4_Missense_Mutation_p.G655R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	655	Cys-rich.|EGF-like 4; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CACGAGCGCCCCCCGGCGCCC	0.741000													9	14					0	0	0.004482	0	0
ABCD3	5825	broad.mit.edu	37	1	94956754	94956754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:94956754C>T	ENST00000370214.4	+	16	1361	c.1337C>T	c.(1336-1338)cCt>cTt	p.P446L	ABCD3_ENST00000536817.1_Missense_Mutation_p.P373L|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Missense_Mutation_p.P470L|ABCD3_ENST00000394233.2_Missense_Mutation_p.P336L	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	446	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GATCATGTTCCTTTAGCAACG	0.269000													14	29					0	0	0.004007	0	0
FAM47B	170062	broad.mit.edu	37	X	34961104	34961104	+	Silent	SNP	G	G	A	rs79825675	byFrequency	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:34961104G>A	ENST00000329357.5	+	1	192	c.156G>A	c.(154-156)acG>acA	p.T52T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	52								p.T52T(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TATTTGTGACGGAGGGCATGG	0.552000													14	28					0	0	0.004007	0	0
MYH2	4620	broad.mit.edu	37	17	10433037	10433037	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:10433037C>T	ENST00000245503.5	-	24	3345	c.2961G>A	c.(2959-2961)gaG>gaA	p.E987E	MYH2_ENST00000397183.2_Silent_p.E987E|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	987					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GACCTGCCATCTCTTCTGTGA	0.493000													108	87					0	0	0.014410	0	0
KEL	3792	broad.mit.edu	37	7	142643320	142643320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:142643320C>T	ENST00000355265.2	-	11	1762	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	430					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGGCCAAAGGCCTCACGAACA	0.582000													9	36					0	0	0.006214	0	0
ARNTL2	56938	broad.mit.edu	37	12	27573445	27573445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:27573445G>A	ENST00000544915.1	+	16	2008	c.1789G>A	c.(1789-1791)Gac>Aac	p.D597N	ARNTL2_ENST00000311001.5_Missense_Mutation_p.D617N|ARNTL2_ENST00000546179.1_3'UTR|ARNTL2_ENST00000266503.5_Missense_Mutation_p.D631N|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000261178.5_Missense_Mutation_p.D583N|ARNTL2_ENST00000542388.1_Missense_Mutation_p.D546N|ARNTL2_ENST00000395901.2_Missense_Mutation_p.D594N	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	631					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GGACTTCAGTGACATCCAGTG	0.418000													61	47					0	0	0.014410	0	0
ZNFX1	57169	broad.mit.edu	37	20	47881295	47881295	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:47881295G>A	ENST00000396105.1	-	5	2355	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F	ZNFX1_ENST00000371752.1_Silent_p.F703F|ZNFX1_ENST00000371754.4_Silent_p.F703F	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	703							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTTGCGGCGGAATTCCCGCT	0.522000													43	128					0	0	0.009718	0	0
SPATA21	374955	broad.mit.edu	37	1	16736178	16736178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:16736178C>T	ENST00000335496.1	-	6	987	c.505G>A	c.(505-507)Ggc>Agc	p.G169S	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.G146S	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	169	Pro-rich.						calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		AGGGCAGGGCCCAGCAGGACA	0.697000													11	18					0	0	0.016723	0	0
CSH2	1443	broad.mit.edu	37	17	61949558	61949558	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:61949558C>T	ENST00000392886.2	-	5	733	c.582G>A	c.(580-582)aaG>aaA	p.K194K	CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Silent_p.K137K|CSH2_ENST00000345366.7_Silent_p.K99K	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	194					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						TGTCCATGTCCTTCCTGAAGC	0.562000													45	106					0	0	0.014410	0	0
MYO9B	4650	broad.mit.edu	37	19	17267820	17267820	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:17267820T>G	ENST00000595618.1	+	7	1453	c.1301T>G	c.(1300-1302)gTg>gGg	p.V434G	MYO9B_ENST00000397274.2_Missense_Mutation_p.V434G|CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000594824.1_Missense_Mutation_p.V434G	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	434	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCACCCGAGGTGCTGGACACC	0.592000													10	27					0	0	0.008291	0	0
MAU2	23383	broad.mit.edu	37	19	19466529	19466529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:19466529C>T	ENST00000392313.5	+	19	1826	c.1780C>T	c.(1780-1782)Cca>Tca	p.P594S	MAU2_ENST00000262815.8_Missense_Mutation_p.P594S	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	594					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GACAGACGGTCCACCCCCCGT	0.637000													30	66					0	0	0.010818	0	0
DYM	54808	broad.mit.edu	37	18	46645158	46645158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:46645158G>A	ENST00000269445.6	-	15	2159	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	RP11-15F12.3_ENST00000585251.1_RNA|DYM_ENST00000442713.2_Nonsense_Mutation_p.R378*	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	568						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGATGAGTTCGAAATTGTTCA	0.358000													10	17					0	0	0.010729	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55341405	55341405	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:55341405G>A	ENST00000391728.4	+	8	1161	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	KIR3DL1_ENST00000541392.1_Silent_p.E359E|KIR3DL1_ENST00000326542.7_Silent_p.E359E|KIR3DL1_ENST00000358178.4_Silent_p.E281E|KIR3DL1_ENST00000538269.1_Silent_p.E376E|KIR3DL1_ENST00000402254.2_Intron	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TGGACCAAGAGCCTGCAGGGA	0.527000													45	112					0	0	0.014410	0	0
FPR3	2359	broad.mit.edu	37	19	52327420	52327420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:52327420G>A	ENST00000339223.4	+	2	598	c.419G>A	c.(418-420)aGt>aAt	p.S140N	FPR3_ENST00000595991.1_Missense_Mutation_p.S140N	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	140					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CGCACCATGAGTCTGGCCAAG	0.488000													19	34					0	0	0.008871	0	0
SLMAP	7871	broad.mit.edu	37	3	57882648	57882648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:57882648C>T	ENST00000383718.3	+	15	1525	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	SLMAP_ENST00000295951.3_Missense_Mutation_p.S463F|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.S463F|SLMAP_ENST00000495364.1_Missense_Mutation_p.S14F|SLMAP_ENST00000494088.1_Missense_Mutation_p.S14F|SLMAP_ENST00000449503.2_Missense_Mutation_p.S442F|SLMAP_ENST00000428312.1_Missense_Mutation_p.S480F|SLMAP_ENST00000416870.1_Missense_Mutation_p.S14F|SLMAP_ENST00000442599.2_Missense_Mutation_p.S14F			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	480					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GCCAAAGTGTCCCTTTTAAAA	0.343000													24	59					0	0	0.021523	0	0
MUC16	94025	broad.mit.edu	37	19	9059777	9059777	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:9059777C>T	ENST00000397910.4	-	3	27872	c.27669G>A	c.(27667-27669)ctG>ctA	p.L9223L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9225	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCATCTCCAGTTTCTCTG	0.463000													28	68					0	0	0.006320	0	0
PXK	54899	broad.mit.edu	37	3	58395265	58395265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:58395265C>T	ENST00000463280.1	+	13	1307	c.1216C>T	c.(1216-1218)Cag>Tag	p.Q406*	PXK_ENST00000536660.1_Nonsense_Mutation_p.Q302*|PXK_ENST00000484288.1_Nonsense_Mutation_p.Q439*|PXK_ENST00000383716.3_Nonsense_Mutation_p.Q406*|PXK_ENST00000479241.1_Nonsense_Mutation_p.Q422*|PXK_ENST00000302779.5_Nonsense_Mutation_p.Q422*|PXK_ENST00000356151.2_Nonsense_Mutation_p.Q439*|PXK_ENST00000383715.4_Nonsense_Mutation_p.Q422*			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	439	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AAAGATTCACCAGCATCGAAG	0.403000													6	18					0	0	0.003080	0	0
ITGB6	3694	broad.mit.edu	37	2	160964243	160964243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:160964243G>A	ENST00000283249.2	-	14	2452	c.2215C>T	c.(2215-2217)Cgt>Tgt	p.R739C	ITGB6_ENST00000428609.2_Missense_Mutation_p.R697C|ITGB6_ENST00000409872.1_Missense_Mutation_p.R739C|ITGB6_ENST00000409967.2_Missense_Mutation_p.R632C			P18564	ITB6_HUMAN	integrin, beta 6	739	Interaction with HAX1.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACTTCTTTACGATCATGAAAT	0.458000													23	62					0	0	0.018920	0	0
ERGIC1	57222	broad.mit.edu	37	5	172336721	172336721	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:172336721C>T	ENST00000326654.2	+	2	287	c.72C>T	c.(70-72)atC>atT	p.I24I	ERGIC1_ENST00000523291.1_Silent_p.I69I|ERGIC1_ENST00000393784.3_Silent_p.I69I			Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	69					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGGCAAGATCGACGTCAGTC	0.522000													27	82					0	0	0.010818	0	0
OR4K2	390431	broad.mit.edu	37	14	20345076	20345076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:20345076C>T	ENST00000298642.2	+	1	686	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	217					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)		TTATTTAATTCATATGTTATT	0.383000													35	359					0	0	0.021022	0	0
TMEM255B	348013	broad.mit.edu	37	13	114472075	114472075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:114472075G>A	ENST00000375353.3	+	3	221	c.194G>A	c.(193-195)gGc>gAc	p.G65D		NM_182614.2	NP_872420.1			transmembrane protein 255B																		TTTTAGCTCGGCTTTGGATCT	0.433000													31	59					0	0	0.012213	0	0
ZNF99	7652	broad.mit.edu	37	19	22939400	22939400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:22939400G>A	ENST00000397104.3	-	7	2770	c.2771C>T	c.(2770-2772)gCt>gTt	p.A924V						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCTTAAAAGCTTTGCCACA	0.368000													14	44					0	0	0.003163	0	0
NPAS3	64067	broad.mit.edu	37	14	34269586	34269586	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:34269586C>T	ENST00000346562.2	+	11	2051	c.1977C>T	c.(1975-1977)ttC>ttT	p.F659F	NPAS3_ENST00000551492.1_Silent_p.F696F|NPAS3_ENST00000356141.4_Silent_p.F691F|NPAS3_ENST00000548645.1_Silent_p.F661F|NPAS3_ENST00000357798.5_Silent_p.F678F	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	691					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CTGAGCACTTCCCGTCCCCGC	0.711000													27	60					0	0	0.005443	0	0
MDGA1	266727	broad.mit.edu	37	6	37631751	37631751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:37631751G>A	ENST00000434837.2	-	2	1377	c.199C>T	c.(199-201)Cga>Tga	p.R67*	MDGA1_ENST00000297153.7_Nonsense_Mutation_p.R67*|MDGA1_ENST00000505425.1_Nonsense_Mutation_p.R67*	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	67	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.R67R(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ACCTGGGGTCGAGGGTGCCCT	0.602000													10	56					0	0	0.010729	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24515510	24515510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:24515510C>T	ENST00000357578.3	+	5	987	c.842C>T	c.(841-843)tCc>tTc	p.S281F	ALDH5A1_ENST00000546278.1_Missense_Mutation_p.S193F|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.S294F|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.S253F	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	281					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	TCCAAAATTTCCTTTACTGGT	0.358000													14	46					0	0	0.016723	0	0
GPR98	84059	broad.mit.edu	37	5	90459687	90459687	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:90459687G>A	ENST00000405460.2	+	90	18987	c.18891G>A	c.(18889-18891)agG>agA	p.R6297R	GPR98_ENST00000425867.2_Silent_p.R1958R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6297					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGAGCTCAGGAGGATACCCA	0.502000													5	10					0	0	0.001984	0	0
CABYR	26256	broad.mit.edu	37	18	21735932	21735932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:21735932C>T	ENST00000399481.2	+	2	325	c.173C>T	c.(172-174)cCa>cTa	p.P58L	CABYR_ENST00000327201.6_Missense_Mutation_p.P58L|CABYR_ENST00000399496.3_Missense_Mutation_p.P156L|CABYR_ENST00000581397.1_Missense_Mutation_p.P156L|CABYR_ENST00000415309.2_Missense_Mutation_p.P156L|CABYR_ENST00000399499.1_Missense_Mutation_p.P156L			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	156					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CCCTCATCACCACCTCCAACA	0.507000													26	72					0	0	0.005443	0	0
DNAH5	1767	broad.mit.edu	37	5	13766229	13766229	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:13766229G>A	ENST00000265104.4	-	59	10061	c.9957C>T	c.(9955-9957)atC>atT	p.I3319I	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3319	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATCCGCATGATGAGGTGAG	0.532000									Kartagener syndrome				39	110					0	0	0.013114	0	0
FOLH1	2346	broad.mit.edu	37	11	49227623	49227623	+	Silent	SNP	A	A	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:49227623A>G	ENST00000340334.7	-	3	543	c.175T>C	c.(175-177)Tta>Cta	p.L59L	FOLH1_ENST00000356696.3_Silent_p.L74L|FOLH1_ENST00000533034.1_Silent_p.L59L|FOLH1_ENST00000256999.2_Silent_p.L74L|FOLH1_ENST00000343844.4_5'UTR	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	74					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)	ACTTACTATAAGAACTTCTTG	0.299000													23	47					0	0	0.018920	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059674	152059674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:152059674C>T	ENST00000368806.1	-	3	548	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	162							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTCTTGGCTTCTCTCCATGGG	0.453000													25	103					0	0	0.004656	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99454685	99454685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:99454685G>A	ENST00000397899.2	-	3	467	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like																		GTGGACGACGGCGATTCTTTT	0.403000													11	24					0	0	0.010729	0	0
CNTN5	53942	broad.mit.edu	37	11	100168359	100168359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:100168359C>T	ENST00000524871.1	+	19	2607	c.2317C>T	c.(2317-2319)Ccg>Tcg	p.P773S	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.P773S|CNTN5_ENST00000279463.3_Missense_Mutation_p.P773S|CNTN5_ENST00000528682.1_Missense_Mutation_p.P773S|CNTN5_ENST00000418526.2_Missense_Mutation_p.P699S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	773	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATCCACAGTTCCGAAGACAGC	0.423000													3	9					0	0	0.004672	0	0
ILF3	3609	broad.mit.edu	37	19	10790583	10790583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:10790583C>T	ENST00000449870.1	+	8	1156	c.839C>T	c.(838-840)gCg>gTg	p.A280V	ILF3_ENST00000420083.1_Missense_Mutation_p.A280V|ILF3_ENST00000318511.3_Missense_Mutation_p.A280V|ILF3_ENST00000407004.3_Missense_Mutation_p.A280V|ILF3_ENST00000590261.1_Missense_Mutation_p.A280V|ILF3_ENST00000588657.1_Missense_Mutation_p.A280V|ILF3_ENST00000250241.8_Missense_Mutation_p.A280V|ILF3_ENST00000589998.1_Missense_Mutation_p.A280V|ILF3_ENST00000592763.1_Missense_Mutation_p.A280V	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	280	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GAGTGCCTGGCGTCGGGCATC	0.627000													16	29					0	0	0.007413	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830144	7830144	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:7830144C>T	ENST00000327325.5	+	3	322	c.204C>T	c.(202-204)atC>atT	p.I68I	CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000597522.1_Silent_p.I68I|CLEC4M_ENST00000394122.2_Intron|CLEC4M_ENST00000357361.2_Silent_p.I68I|CLEC4M_ENST00000334806.5_Silent_p.I40I|CLEC4M_ENST00000248228.4_Silent_p.I68I|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000596363.1_Silent_p.I40I	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	68					cell-cell recognition|endocytosis|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 plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGGTGGCCATCCTTGTCCAAG	0.622000													35	71					0	0	0.017118	0	0
MOV10L1	54456	broad.mit.edu	37	22	50572967	50572967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:50572967C>T	ENST00000262794.5	+	15	2061	c.1978C>T	c.(1978-1980)Cca>Tca	p.P660S	MOV10L1_ENST00000545383.1_Missense_Mutation_p.P660S|MOV10L1_ENST00000540615.1_Missense_Mutation_p.P640S|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.P660S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	660					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGTGTTGTTTCCAGAAGAAAT	0.368000													26	69					0	0	0.004656	0	0
DSG4	147409	broad.mit.edu	37	18	28970705	28970705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:28970705G>A	ENST00000359747.4	+	6	633	c.604G>A	c.(604-606)Gag>Aag	p.E202K	DSG4_ENST00000308128.4_Missense_Mutation_p.E202K|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	202	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGTCTCTCAGGAGCCATCAGG	0.408000													9	27					0	0	0.010729	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072195	17072195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:17072195C>T	ENST00000359963.3	-	1	1505	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	416					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	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)				AAAGCCATTTCTGTGGCCCCA	0.542000													20	33					0	0	0.010504	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456450	30456450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:30456450C>T	ENST00000478753.2	-	1	1052	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	SEPHS2_ENST00000500504.2_Missense_Mutation_p.R200Q|SEPHS2_ENST00000542752.1_Missense_Mutation_p.R143Q			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	200					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGCCGCATCCCGAAAGCCTTT	0.522000													36	76					0	0	0.006999	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149376778	149376778	+	RNA	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:149376778G>A	ENST00000415338.1	-	0	1061																											CAGAGGCCTGGTTTGCAGCTT	0.498000													27	24					0	0	0.006320	0	0
FIGN	55137	broad.mit.edu	37	2	164466641	164466641	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:164466641G>A	ENST00000333129.3	-	3	2015	c.1701C>T	c.(1699-1701)atC>atT	p.I567I	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	567						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AAGAGGCATGGATAATTTTCT	0.478000													11	36					0	0	0.010729	0	0
CHAD	1101	broad.mit.edu	37	17	48546022	48546022	+	Silent	SNP	C	C	T	rs138853066		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:48546022C>T	ENST00000508540.1	-	1	305	c.153G>A	c.(151-153)gaG>gaA	p.E51E	ACSF2_ENST00000506085.1_Intron|CHAD_ENST00000258969.4_Silent_p.E51E|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000502667.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	51	LRRNT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCTTGGTCTTCTCTGACACCT	0.622000													9	28					0	0	0.006214	0	0
C1orf168	199920	broad.mit.edu	37	1	57202799	57202799	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:57202799A>T	ENST00000343433.6	-	15	1834	c.1754T>A	c.(1753-1755)aTt>aAt	p.I585N	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	585										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ATCATAAATAATAACTTCCTG	0.333000													12	42					0	0	0.020292	0	0
MUC16	94025	broad.mit.edu	37	19	9084779	9084779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:9084779C>T	ENST00000397910.4	-	1	7239	c.7036G>A	c.(7036-7038)Gaa>Aaa	p.E2346K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2346	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGTAGTTTCATTATCCAGT	0.463000													12	23					0	0	0.016723	0	0
A1CF	29974	broad.mit.edu	37	10	52573757	52573757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:52573757C>T	ENST00000395489.2	-	12	1582	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T	A1CF_ENST00000373993.1_Missense_Mutation_p.A403T|A1CF_ENST00000395495.1_Missense_Mutation_p.A348T|A1CF_ENST00000373995.3_Missense_Mutation_p.A403T|A1CF_ENST00000373997.3_Missense_Mutation_p.A395T|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000374001.1_Missense_Mutation_p.A395T|A1CF_ENST00000282641.2_Missense_Mutation_p.A403T|ASAH2B_ENST00000483649.1_Intron	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	403	Required for nuclear localization.				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			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCTGTGTATGCCAAATAGCCA	0.483000													28	48					0	0	0.008361	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050753	84050753	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:84050753G>A	ENST00000299709.3	-	7	944	c.945C>T	c.(943-945)ttC>ttT	p.F315F		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	315					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACCTCCCCAGGAAGAGCACGA	0.567000													16	22					0	0	0.007413	0	0
USH2A	7399	broad.mit.edu	37	1	215848664	215848664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:215848664C>T	ENST00000366943.2	-	63	12975	c.12589G>A	c.(12589-12591)Gga>Aga	p.G4197R	USH2A_ENST00000307340.3_Missense_Mutation_p.G4197R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4197	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAGCTTTTCCCTCGAAGCAT	0.418000										HNSCC(13;0.011)			20	160					0	0	0.008871	0	0
PCSK5	5125	broad.mit.edu	37	9	78973689	78973689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:78973689G>A	ENST00000545128.1	+	37	5972	c.5434G>A	c.(5434-5436)Gat>Aat	p.D1812N		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	629					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGAGTACAGGGATCGGGACTA	0.473000													54	156					0	0	0.014410	0	0
XIRP2	129446	broad.mit.edu	37	2	168104432	168104432	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:168104432A>G	ENST00000409195.1	+	9	6619	c.6530A>G	c.(6529-6531)gAc>gGc	p.D2177G	XIRP2_ENST00000295237.9_Missense_Mutation_p.D2177G|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1955G|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2002	Pro-rich.				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						GGAACTTACGACCTTTCAGGG	0.368000													14	32					0	0	0.006122	0	0
TRHR	7201	broad.mit.edu	37	8	110131511	110131511	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:110131511A>G	ENST00000518632.1	+	3	1375	c.1024A>G	c.(1024-1026)Aca>Gca	p.T342A	TRHR_ENST00000311762.2_Missense_Mutation_p.T342A			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	342						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GCAGAAGCCAACAGAGAAACC	0.463000													33	88					0	0	0.010818	0	0
OGDHL	55753	broad.mit.edu	37	10	50944552	50944552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:50944552G>A	ENST00000374103.4	-	21	2690	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	OGDHL_ENST00000432695.1_Missense_Mutation_p.R660W|OGDHL_ENST00000419399.1_Missense_Mutation_p.R812W|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	869					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGAATCACCCGCTGGAAGCTG	0.642000													17	25					0	0	0.006122	0	0
OR8D2	283160	broad.mit.edu	37	11	124189235	124189235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:124189235G>A	ENST00000357438.2	-	1	949	c.859C>T	c.(859-861)Cct>Tct	p.P287S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TAGATTAGAGGATTCAGCATG	0.433000													48	62					0	0	0.014410	0	0
ENPP7	339221	broad.mit.edu	37	17	77709387	77709387	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:77709387C>T	ENST00000328313.5	+	3	1166	c.945C>T	c.(943-945)ttC>ttT	p.F315F		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	315					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGGAGGCGTTCCCCGAGGCCT	0.607000													29	45					0	0	0.006320	0	0
ACTA1	58	broad.mit.edu	37	1	229568416	229568416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:229568416G>A	ENST00000366684.3	-	3	443	c.341C>T	c.(340-342)cCc>cTc	p.P114L	ACTA1_ENST00000366683.2_Missense_Mutation_p.P114L	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	114					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GTTGGCCTTGGGATTGAGGGG	0.612000													51	160					0	0	0.014410	0	0
AHCYL2	23382	broad.mit.edu	37	7	129064971	129064971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:129064971C>T	ENST00000325006.3	+	15	1751	c.1697C>T	c.(1696-1698)cCc>cTc	p.P566L	AHCYL2_ENST00000474594.1_Missense_Mutation_p.P463L|AHCYL2_ENST00000531335.2_Missense_Mutation_p.P485L|AHCYL2_ENST00000446212.1_Missense_Mutation_p.P464L|AHCYL2_ENST00000446544.2_Missense_Mutation_p.P565L|AHCYL2_ENST00000490911.1_Missense_Mutation_p.P463L	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	566					one-carbon metabolic process		adenosylhomocysteinase activity	p.P463H(1)|p.P566H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TACCTGTTGCCCAAGAAGATG	0.448000													24	43					0	0	0.016522	0	0
SF3B4	10262	broad.mit.edu	37	1	149895856	149895856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:149895856G>A	ENST00000271628.8	-	5	1548	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	322						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CCAGCGTGGGGATGTCCTAAG	0.582000													3	20					0	0	0.001168	0	0
CACNA1B	774	broad.mit.edu	37	9	141016070	141016070	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:141016070C>T	ENST00000277549.5	+	47	6790	c.4221C>T	c.(4219-4221)ttC>ttT	p.F1407F	CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371355.4_Silent_p.F2214F|CACNA1B_ENST00000371372.1_Silent_p.F2213F|CACNA1B_ENST00000371357.1_Silent_p.F2212F|CACNA1B_ENST00000371363.1_Silent_p.F2211F			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2213					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCATCCACTTCGCCGGGGCTC	0.706000													9	26					0	0	0.006214	0	0
IGSF10	285313	broad.mit.edu	37	3	151166599	151166599	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:151166599C>T	ENST00000282466.3	-	4	1169	c.1170G>A	c.(1168-1170)agG>agA	p.R390R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	390					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAAGTGGCTCCTTTCTAGTA	0.413000													11	24					0	0	0.008291	0	0
NLRP11	204801	broad.mit.edu	37	19	56321367	56321367	+	Silent	SNP	G	G	A	rs149856648		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:56321367G>A	ENST00000443188.1	-	5	1319	c.609C>T	c.(607-609)atC>atT	p.I203I	NLRP11_ENST00000592953.1_Silent_p.I104I|NLRP11_ENST00000360133.3_Silent_p.I203I|NLRP11_ENST00000589093.1_Silent_p.I203I|NLRP11_ENST00000589824.2_Silent_p.I203I	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	203	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGTCCTTGGCGATTAGCTCAG	0.512000													17	27					0	0	0.004007	0	0
TMEM108	66000	broad.mit.edu	37	3	133098997	133098997	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:133098997G>A	ENST00000515826.1	+	3	565	c.442G>A	c.(442-444)Ggg>Agg	p.G148R	TMEM108_ENST00000321871.6_Missense_Mutation_p.G148R|TMEM108_ENST00000393130.3_Missense_Mutation_p.G148R|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	148	Pro-rich.					integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AAAGCCACCGGGGGCCACCAG	0.701000													9	16					0	0	0.006214	0	0
CCDC178	374864	broad.mit.edu	37	18	30804860	30804860	+	Missense_Mutation	SNP	C	C	T	rs112779048	byFrequency	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:30804860C>T	ENST00000383096.3	-	17	1879	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q	CCDC178_ENST00000300227.8_Missense_Mutation_p.R566Q|CCDC178_ENST00000402325.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000583930.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.R566Q					coiled-coil domain containing 178																		AAGCTCTTTCCGCTCAAGTGC	0.358000													20	44					0	0	0.016522	0	0
FAM131B	9715	broad.mit.edu	37	7	143053691	143053691	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:143053691G>A	ENST00000409408.1	-	6	2659	c.951C>T	c.(949-951)tcC>tcT	p.S317S	FAM131B_ENST00000409578.1_Silent_p.S333S|FAM131B_ENST00000409222.3_Silent_p.S317S|FAM131B_ENST00000443739.2_Silent_p.S345S|FAM131B_ENST00000409346.1_Silent_p.S317S			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	317										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GCACACCTGAGGATGTGACGT	0.592000													34	101					0	0	0.013726	0	0
OC90	729330	broad.mit.edu	37	8	133036886	133036886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:133036886C>T	ENST00000262283.5	-	18	2011	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	OC90_ENST00000254627.3_Missense_Mutation_p.E426K|OC90_ENST00000603859.1_Missense_Mutation_p.E426K|OC90_ENST00000443356.2_Missense_Mutation_p.E442K			Q02509	OC90_HUMAN	otoconin 90	442					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGGCTGTCTTCACAGGCTGCT	0.647000													7	16					0	0	0.003080	0	0
PHKA2	5256	broad.mit.edu	37	X	18936813	18936813	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:18936813C>A	ENST00000379942.4	-	19	2788	c.2123G>T	c.(2122-2124)gGt>gTt	p.G708V		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	708					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AACTTCCAAACCCTTTGCTTT	0.403000													21	23					2.98393e-07	3.2792e-07	0.016522	1	0
PRDM1	639	broad.mit.edu	37	6	106555230	106555230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:106555230G>A	ENST00000369096.4	+	7	2581	c.2347G>A	c.(2347-2349)Gga>Aga	p.G783R	PRDM1_ENST00000369091.2_Missense_Mutation_p.G747R|PRDM1_ENST00000369089.3_Missense_Mutation_p.G649R	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	783					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CATGGGGAATGGACTCCTCTC	0.483000			"""D, N, Mis, F, S"""		DLBCL								24	25					0	0	0.014323	0	0
PTGFR	5737	broad.mit.edu	37	1	79002193	79002193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:79002193C>T	ENST00000370757.3	+	3	1138	c.901C>T	c.(901-903)Cct>Tct	p.P301S	PTGFR_ENST00000370758.1_Missense_Mutation_p.P301S|PTGFR_ENST00000370756.3_3'UTR	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	301					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AATCTTAGATCCTTGGGTATA	0.393000													22	48					0	0	0.014323	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904374	73904374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:73904374C>T	ENST00000342056.2	+	15	2491	c.2093C>T	c.(2092-2094)tCa>tTa	p.S698L	KCNQ5_ENST00000370398.1_Missense_Mutation_p.S679L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S680L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S569L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S670L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S679L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S689L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	679					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)		TTATCCAGATCAACTAGTGCC	0.478000													47	44					0	0	0.014410	0	0
NCOA6	23054	broad.mit.edu	37	20	33329993	33329993	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:33329993A>G	ENST00000374796.2	-	12	6637	c.4067T>C	c.(4066-4068)cTg>cCg	p.L1356P	NCOA6_ENST00000359003.2_Missense_Mutation_p.L1356P			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1356					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGAGAGGCCAGAGTAAGTTT	0.537000													56	50					0	0	0.014410	0	0
LMAN2	10960	broad.mit.edu	37	5	176765561	176765561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:176765561G>A	ENST00000303127.7	-	3	565	c.361C>T	c.(361-363)Cac>Tac	p.H121Y	LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Missense_Mutation_p.H121Y	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	121	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CCTGTGCCGTGGACTTTGAAG	0.622000													61	129					0	0	0.014410	0	0
CABS1	85438	broad.mit.edu	37	4	71201408	71201408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:71201408C>T	ENST00000273936.4	+	1	711	c.652C>T	c.(652-654)Cct>Tct	p.P218S		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	218						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCTGAAATCCCTCCTGCTCC	0.423000													10	37					0	0	0.006214	0	0
DST	667	broad.mit.edu	37	6	56494203	56494203	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:56494203G>A	ENST00000370754.5	-	31	4220	c.4221C>T	c.(4219-4221)ttC>ttT	p.F1407F	DST_ENST00000518935.1_Silent_p.F903F|DST_ENST00000312431.6_Silent_p.F1229F|DST_ENST00000421834.2_Silent_p.F1229F|DST_ENST00000244364.6_Silent_p.F903F|DST_ENST00000361203.3_Silent_p.F1229F|DST_ENST00000446842.2_Silent_p.F903F|DST_ENST00000370769.4_Silent_p.F1229F|DST_ENST00000370765.6_Silent_p.F903F|DST_ENST00000370788.2_Silent_p.F1229F			Q03001	DYST_HUMAN	dystonin	1229					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTAAGGCATGGAATACCTGTC	0.338000													14	51					0	0	0.003163	0	0
PEG3	5178	broad.mit.edu	37	19	57328195	57328195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:57328195C>T	ENST00000326441.9	-	10	1978	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E415K|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E539K|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E413K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	539					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCTCACATTCCTGATTCTTA	0.443000													34	98					0	0	0.005524	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs149323153	by1000genomes	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													15	58					0	0	0.010504	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188045	32188045	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:32188045C>A	ENST00000375023.3	-	7	1314	c.1176G>T	c.(1174-1176)ttG>ttT	p.L392F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	392	EGF-like 10.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|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						ACATGTCTTCCAAGTGGCACA	0.597000													7	502					0.00198382	0.00217002	0.001984	1	0
NCOR2	9612	broad.mit.edu	37	12	124826485	124826485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:124826485G>A	ENST00000356219.3	-	35	5248	c.5093C>T	c.(5092-5094)aCc>aTc	p.T1698I	NCOR2_ENST00000404121.2_Missense_Mutation_p.T1252I|NCOR2_ENST00000397355.1_Missense_Mutation_p.T1682I|NCOR2_ENST00000405201.1_Missense_Mutation_p.T1691I|NCOR2_ENST00000429285.2_Missense_Mutation_p.T1681I|NCOR2_ENST00000404621.1_Missense_Mutation_p.T1681I	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1699					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTGCTGCGAGGTGATGTAGTC	0.647000													28	41					0	0	0.013726	0	0
PM20D1	148811	broad.mit.edu	37	1	205819130	205819130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:205819130C>T	ENST00000367136.4	-	1	115	c.71G>A	c.(70-72)aGa>aAa	p.R24K	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	24						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCCCATCGATCTGGAGACGGT	0.597000													39	62					0	0	0.011902	0	0
CD48	962	broad.mit.edu	37	1	160648920	160648920	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:160648920G>A	ENST00000368046.3	-	4	741	c.652_splice	c.e4-1	p.A218_splice	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	218					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAAAGGACCGGGCTGAAAGAG	0.468000													23	76					0	0	0.004656	0	0
LOC644669	644669	broad.mit.edu	37	18	15323336	15323336	+	RNA	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:15323336G>A	ENST00000455308.2	-	0	512					NR_027417.1																						TTTCCTTATGGCCAATAAAAG	0.289000													3	10					0	0	0.014758	0	0
PDZD4	57595	broad.mit.edu	37	X	153073826	153073826	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:153073826G>A	ENST00000164640.4	-	2	476	c.285C>T	c.(283-285)gtC>gtT	p.V95V	PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_Silent_p.V14V|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	95						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)					GCTCCAGGATGACCATGGGCG	0.667000													15	24					0	0	0.004007	0	0
ASB4	51666	broad.mit.edu	37	7	95167013	95167013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:95167013C>T	ENST00000325885.5	+	5	1294	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	408	SOCS box.				intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCTTTGCTTTCCCTCCCATTG	0.408000													28	53					0	0	0.008361	0	0
IL18RAP	8807	broad.mit.edu	37	2	103059758	103059758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:103059758G>A	ENST00000264260.2	+	8	1484	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	IL18RAP_ENST00000409369.1_Missense_Mutation_p.E157K	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	299	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCTAGAGTGGGAAGTCTCAGT	0.393000													24	38					0	0	0.018920	0	0
T	6862	broad.mit.edu	37	6	166571956	166571956	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:166571956G>A	ENST00000296946.2	-	9	1623	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P	T_ENST00000366871.3_Silent_p.P327P	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	385					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GATGGGTGAGGGGTGTGTAGT	0.711000									Chordoma, Familial Clustering of				19	28					0	0	0.010504	0	0
IGHG4	3503	broad.mit.edu	37	14	106091552	106091552	+	RNA	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:106091552G>A	ENST00000390543.2	-	0	341																											GTCCCCCCAGGAACTCAGGTG	0.627000													18	21					0	0	0.006122	0	0
ARL16	339231	broad.mit.edu	37	17	79650840	79650840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:79650840C>T	ENST00000397498.4	-	1	114	c.16G>A	c.(16-18)Ggg>Agg	p.G6R		NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	6							GTP binding	p.G6R(1)		central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AAGGCCCGCCCACCGGCCACT	0.637000													11	24					0	0	0.013537	0	0
CTR9	9646	broad.mit.edu	37	11	10787958	10787958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:10787958G>A	ENST00000361367.2	+	13	2033	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	536					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGCTATTTGCGCCTAGGAGCC	0.308000													15	59					0	0	0.004007	0	0
CRB1	23418	broad.mit.edu	37	1	197404165	197404165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:197404165G>A	ENST00000367397.1	+	5	2173	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	CRB1_ENST00000535699.1_Missense_Mutation_p.E1034K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.E946K|CRB1_ENST00000544212.1_Missense_Mutation_p.E539K|CRB1_ENST00000367400.3_Missense_Mutation_p.E1058K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1058	EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.E1058K(1)		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						AGTGGACAACGAAACACCTTT	0.443000													26	112					0	0	0.007291	0	0
OVGP1	5016	broad.mit.edu	37	1	111963975	111963975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:111963975C>T	ENST00000369732.3	-	8	881	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	OVGP1_ENST00000540696.1_Intron|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	276					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GCCTGCAACCCATTCTTAGAG	0.502000													41	109					0	0	0.009718	0	0
TMEM211	255349	broad.mit.edu	37	22	25331525	25331525	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:25331525G>A	ENST00000407886.1	-	4	417	c.165C>T	c.(163-165)atC>atT	p.I55I	TMEM211_ENST00000423535.1_Silent_p.I126I|TMEM211_ENST00000382744.1_Silent_p.I55I			Q6ICI0	TM211_HUMAN	transmembrane protein 211	126						integral to membrane		p.I55I(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						AGGCAAGGCCGATTGGGAAAA	0.517000													18	44					0	0	0.006122	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18573874	18573874	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:18573874G>A	ENST00000433979.1	+	16	2308		c.e16-1		PIK3C2G_ENST00000538779.1_Splice_Site|PIK3C2G_ENST00000266497.5_Splice_Site	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma						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)				CTGTGTATTAGTTTTCCAGAT	0.373000													27	41					0	0	0.009535	0	0
TTLL10	254173	broad.mit.edu	37	1	1119384	1119384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:1119384G>A	ENST00000379290.1	+	12	1346	c.1173G>A	c.(1171-1173)atG>atA	p.M391I	TTLL10_ENST00000379288.3_Missense_Mutation_p.M318I|TTLL10_ENST00000379289.1_Missense_Mutation_p.M391I			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	391	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCCTACATGATCTTCTTTG	0.592000													93	184					0	0	0.014410	0	0
MYPN	84665	broad.mit.edu	37	10	69926172	69926172	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:69926172C>T	ENST00000358913.5	+	10	2210	c.1722C>T	c.(1720-1722)ccC>ccT	p.P574P	MYPN_ENST00000540630.1_Silent_p.P574P|MYPN_ENST00000354393.2_Silent_p.P299P	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	574						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AACAACCCCCCAAACCCAAAC	0.577000													12	17					0	0	0.013537	0	0
SCN4A	6329	broad.mit.edu	37	17	62018401	62018401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:62018401C>T	ENST00000578147.1	-	24	5317	c.5241G>A	c.(5239-5241)atG>atA	p.M1747I	SCN4A_ENST00000435607.1_Missense_Mutation_p.M1747I			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1747	IQ.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATGCCTGCTTCATGGAGCGCT	0.617000													34	72					0	0	0.021022	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063526	48063526	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:48063526C>T	ENST00000316364.5	+	19	3205	c.2766C>T	c.(2764-2766)gtC>gtT	p.V922V	SEMA6D_ENST00000358066.4_Silent_p.V860V|SEMA6D_ENST00000354744.4_Silent_p.V866V|SEMA6D_ENST00000389432.2_Silent_p.V879V|SEMA6D_ENST00000389428.3_Silent_p.V847V|SEMA6D_ENST00000537942.1_Silent_p.V860V|SEMA6D_ENST00000558014.1_Silent_p.V860V|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000536845.2_Silent_p.V922V|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Silent_p.V903V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	922					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CACCTAAAGTCCCTAACCGGG	0.532000													26	88					0	0	0.005443	0	0
DNAH7	56171	broad.mit.edu	37	2	196746717	196746717	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:196746717C>T	ENST00000312428.6	-	36	5864		c.e36-1			NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCCTATTCCCTGTTTATAAT	0.338000													8	15					0	0	0.003080	0	0
CLCNKA	1187	broad.mit.edu	37	1	16355734	16355734	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:16355734G>A	ENST00000375692.1	+	13	1295	c.1167G>A	c.(1165-1167)tgG>tgA	p.W389*	CLCNKA_ENST00000331433.4_Nonsense_Mutation_p.W389*|CLCNKA_ENST00000420078.1_Nonsense_Mutation_p.W389*|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Nonsense_Mutation_p.W346*			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	389					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ACCTTTGGTGGGAATGGTACC	0.627000													30	75					0	0	0.008361	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631965	156631965	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:156631965C>T	ENST00000296518.7	+	6	857	c.648C>T	c.(646-648)ccC>ccT	p.P216P	GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Silent_p.P216P|GUCY1A3_ENST00000513574.1_Silent_p.P216P|GUCY1A3_ENST00000511507.1_Silent_p.P216P|GUCY1A3_ENST00000455639.2_Silent_p.P216P|GUCY1A3_ENST00000511108.1_Silent_p.P216P			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	216					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGATTCTTCCCGGCATCATAA	0.463000													22	48					0	0	0.021523	0	0
DPEP3	64180	broad.mit.edu	37	16	68009732	68009732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:68009732G>A	ENST00000268793.4	-	10	1851	c.1478C>T	c.(1477-1479)cCa>cTa	p.P493L		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	468					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AACAAGGTATGGGGAGGCATT	0.602000													6	17					0	0	0.003080	0	0
NFXL1	152518	broad.mit.edu	37	4	47907343	47907343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:47907343C>T	ENST00000507489.1	-	4	603	c.427G>A	c.(427-429)Gag>Aag	p.E143K	NFXL1_ENST00000329043.3_Missense_Mutation_p.E143K|NFXL1_ENST00000381538.3_Missense_Mutation_p.E143K	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	143						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TTTGTTCGCTCTAATTCACGT	0.348000													20	56					0	0	0.008871	0	0
ITGA2	3673	broad.mit.edu	37	5	52351403	52351403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:52351403G>A	ENST00000296585.5	+	8	958	c.815G>A	c.(814-816)cGa>cAa	p.R272Q		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	272	VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GGTGGGCGACGAAGTGCTACG	0.373000													17	50					0	0	0.004990	0	0
MYO5C	55930	broad.mit.edu	37	15	52498025	52498025	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:52498025G>A	ENST00000261839.7	-	37	4686	c.4525C>T	c.(4525-4527)Caa>Taa	p.Q1509*	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1509	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATTATCGGTTGGATATTCTTT	0.284000													12	27					0	0	0.013537	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563237	129563237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:129563237C>T	ENST00000422113.2	-	8	2283	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E191K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	653						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGGTCTTTTCAGCGAGGATG	0.572000													28	37					0	0	0.008361	0	0
SPATA16	83893	broad.mit.edu	37	3	172694842	172694842	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:172694842C>T	ENST00000351008.3	-	5	1032	c.848_splice	c.e5-1	p.R283_splice		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	283			R -> Q (in SPGF6).		cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TCATGGCACTCCTAAGAACAA	0.378000													24	57					0	0	0.021523	0	0
NEK9	91754	broad.mit.edu	37	14	75587839	75587839	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:75587839T>A	ENST00000238616.5	-	3	594	c.436A>T	c.(436-438)Aag>Tag	p.K146*		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	146	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TCAAACAACTTGTCCTTCTGA	0.363000													12	22					0	0	0.010729	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336638	42336638	+	Missense_Mutation	SNP	C	C	T	rs142195740		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:42336638C>T	ENST00000262418.6	-	9	924	c.769G>A	c.(769-771)Gag>Aag	p.E257K	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	257					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACCGGCAGCTCCACCGCCTCC	0.652000													15	31					0	0	0.003163	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417482	150417482	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:150417482G>A	ENST00000307194.5	+	3	530	c.390G>A	c.(388-390)caG>caA	p.Q130Q		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGACCAGCAGGCGGTGAGGC	0.657000													19	43					0	0	0.006122	0	0
OPALIN	93377	broad.mit.edu	37	10	98109564	98109564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:98109564C>T	ENST00000419479.1	-	5	569	c.62G>A	c.(61-63)gGa>gAa	p.G21E	OPALIN_ENST00000393870.2_Missense_Mutation_p.G20E|OPALIN_ENST00000393871.1_Missense_Mutation_p.G8E|OPALIN_ENST00000371172.3_Missense_Mutation_p.G31E|OPALIN_ENST00000536387.1_Missense_Mutation_p.G21E	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	31						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CGCCGCTAATCCAAGAGAGGG	0.463000													4	8					0	0	0.003080	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367791	145367791	+	Missense_Mutation	SNP	G	G	A	rs78046651		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:145367791G>A	ENST00000342960.5	+	83	10422	c.10387G>A	c.(10387-10389)Ggg>Agg	p.G3463R	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3463										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		aagaaaagaaggggaagaaga	0.433000													22	39					0	0	0.021523	0	0
NFIA	4774	broad.mit.edu	37	1	61554224	61554224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:61554224G>A	ENST00000403491.3	+	2	915	c.431G>A	c.(430-432)aGt>aAt	p.S144N	NFIA_ENST00000407417.3_Missense_Mutation_p.S136N|NFIA_ENST00000371184.2_Missense_Mutation_p.S144N|NFIA_ENST00000371185.2_Missense_Mutation_p.S144N|NFIA_ENST00000371187.3_Missense_Mutation_p.S144N|NFIA_ENST00000371189.4_Missense_Mutation_p.S189N|NFIA_ENST00000371191.1_Missense_Mutation_p.S167N|NFIA_ENST00000485903.2_Missense_Mutation_p.S144N|NFIA_ENST00000479364.1_Intron	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	144					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						CCGCTGGAAAGTACTGATGGC	0.473000													32	74					0	0	0.012213	0	0
C10orf113	387638	broad.mit.edu	37	10	21414888	21414888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:21414888G>A	ENST00000534331.1	-	2	382	c.332C>T	c.(331-333)cCa>cTa	p.P111L	NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Missense_Mutation_p.P101L|C10orf113_ENST00000529198.1_3'UTR	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	111										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						CCAGTTGCCTGGATCTGGTTC	0.537000													19	44					0	0	0.008871	0	0
ACO2	50	broad.mit.edu	37	22	41895859	41895859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:41895859C>T	ENST00000396512.3	+	2	183	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	ACO2_ENST00000216254.4_Missense_Mutation_p.R56C			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	56					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TAACATTGTTCGCAAACGGTA	0.542000													64	131					0	0	0.014410	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101575017	101575017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:101575017C>T	ENST00000310954.6	-	12	2238	c.1952G>A	c.(1951-1953)gGa>gAa	p.G651E		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	651					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TCCTTTAATTCCACAATCATT	0.333000													22	43					0	0	0.014323	0	0
FAM83B	222584	broad.mit.edu	37	6	54805757	54805757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:54805757G>A	ENST00000306858.7	+	5	2104	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	663										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTTAAAAGGCGAAGTTTCCCG	0.343000													23	59					0	0	0.004656	0	0
MEOX1	4222	broad.mit.edu	37	17	41738450	41738450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:41738450C>T	ENST00000549132.1	-	1	481	c.365G>A	c.(364-366)gGa>gAa	p.G122E	MEOX1_ENST00000329168.3_Silent_p.R151R|MEOX1_ENST00000393661.2_Silent_p.R36R|MEOX1_ENST00000318579.4_Silent_p.R151R			P50221	MEOX1_HUMAN	mesenchyme homeobox 1	0						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		TCTCCTTTCTCCGCCTGGATG	0.577000													72	190					0	0	0.014410	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170939	207170939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:207170939C>T	ENST00000374423.3	+	5	2073	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	563							nucleic acid binding|zinc ion binding	p.R563W(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACAAAACTTCGGAAGAAGGC	0.438000													12	24					0	0	0.013537	0	0
PROL1	58503	broad.mit.edu	37	4	71275451	71275451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:71275451C>T	ENST00000399575.2	+	3	580	c.406C>T	c.(406-408)Cct>Tct	p.P136S	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	136	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TATTTACCTTCCTATCTCTAA	0.438000													30	65					0	0	0.008361	0	0
PPM1N	147699	broad.mit.edu	37	19	46003763	46003763	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:46003763G>A	ENST00000451287.2	+	3	1107	c.1107G>A	c.(1105-1107)agG>agA	p.R369R	PPM1N_ENST00000456399.2_Silent_p.R51R|PPM1N_ENST00000324688.4_3'UTR|PPM1N_ENST00000401705.1_Silent_p.R51R|PPM1N_ENST00000396735.2_Silent_p.R51R|PPM1N_ENST00000396737.2_Silent_p.R51R|PPM1N_ENST00000401593.1_Silent_p.R51R|PPM1N_ENST00000396736.2_Silent_p.R51R	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	369							magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						CAGTTTTCAGGACTCTGGCCT	0.582000													7	16					0	0	0.003080	0	0
ICOSLG	23308	broad.mit.edu	37	21	45656889	45656889	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:45656889G>A	ENST00000407780.3	-	3	394	c.267C>T	c.(265-267)gcC>gcT	p.A89A	ICOSLG_ENST00000344330.4_Silent_p.A89A|ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Silent_p.A89A			O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	89	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GCAGCATGCCGGCCGGTGACA	0.602000													21	55					0	0	0.016522	0	0
LCE4A	199834	broad.mit.edu	37	1	152681714	152681714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:152681714G>A	ENST00000368777.1	+	2	419	c.163G>A	c.(163-165)Gga>Aga	p.G55R	LCE4A_ENST00000335535.3_Missense_Mutation_p.G55R			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	55	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CAGCTCTGAGGGAGGTGGCTG	0.597000													19	66					0	0	0.006320	0	0
CCDC74A	90557	broad.mit.edu	37	2	132289353	132289353	+	Missense_Mutation	SNP	C	C	T	rs145934024		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:132289353C>T	ENST00000467992.2	+	2	1281	c.967C>T	c.(967-969)Cct>Tct	p.P323S	CCDC74A_ENST00000409856.3_Missense_Mutation_p.P155S|CCDC74A_ENST00000295171.6_Missense_Mutation_p.P221S			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	221								p.P221S(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGACAAAGTTCCTGGGGTACA	0.577000													43	22					0	0	0.014410	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001293	13001293	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:13001293C>T	ENST00000376189.1	-	3	489	c.390G>A	c.(388-390)agG>agA	p.R130R	PRAMEF6_ENST00000415464.2_Silent_p.R130R|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	130										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		GTGTTTTGTTCCTCTTGGCAT	0.498000													108	822					0	0	0.014410	0	0
LTBP2	4053	broad.mit.edu	37	14	75022267	75022267	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:75022267G>A	ENST00000261978.4	-	4	1346	c.960C>T	c.(958-960)ggC>ggT	p.G320G	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Silent_p.G320G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	320					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCTGCTCAAGGCCTGGTCCCG	0.647000													31	31					0	0	0.012213	0	0
VPS13D	55187	broad.mit.edu	37	1	12368579	12368579	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:12368579G>A	ENST00000358136.3	+	27	6661	c.6531G>A	c.(6529-6531)aaG>aaA	p.K2177K	VPS13D_ENST00000356315.4_Silent_p.K2177K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2177					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATACTCGAAGGCACCAGAGG	0.502000													48	130					0	0	0.014410	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768199	77768199	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:77768199G>A	ENST00000521891.2	+	10	9490	c.9042G>A	c.(9040-9042)gtG>gtA	p.V3014V	ZFHX4_ENST00000050961.6_Silent_p.V2969V|ZFHX4_ENST00000518282.1_Silent_p.V2988V|ZFHX4_ENST00000455469.2_Silent_p.V2969V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2969						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGCGGGGTGAAGTACTCTG	0.478000										HNSCC(33;0.089)			12	36					0	0	0.016723	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455134	187455134	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:187455134C>T	ENST00000307161.5	-	2	963	c.762G>A	c.(760-762)ctG>ctA	p.L254L	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	254					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CAATGAAGTTCAGAGGAGCCC	0.507000													47	31					0	0	0.010771	0	0
TGM6	343641	broad.mit.edu	37	20	2375937	2375937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:2375937G>A	ENST00000202625.2	+	3	340	c.279G>A	c.(277-279)atG>atA	p.M93I	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Missense_Mutation_p.M93I	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	93					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGGCTCAGATGGAGAAAACTC	0.612000													17	31					0	0	0.004007	0	0
MPP7	143098	broad.mit.edu	37	10	28409259	28409259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:28409259C>T	ENST00000337532.5	-	11	1027	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	MPP7_ENST00000445954.2_Missense_Mutation_p.E126K|MPP7_ENST00000540098.1_Missense_Mutation_p.E251K|MPP7_ENST00000375719.3_Missense_Mutation_p.E251K|MPP7_ENST00000375732.1_Missense_Mutation_p.E251K	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	251	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AGCCCAGCTTCCTTACATGGA	0.383000													15	72					0	0	0.004990	0	0
PAQR3	152559	broad.mit.edu	37	4	79851443	79851443	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:79851443A>T	ENST00000512733.1	-	3	598	c.385T>A	c.(385-387)Tcc>Acc	p.S129T	PAQR3_ENST00000295462.3_Missense_Mutation_p.F74L|PAQR3_ENST00000380645.4_Missense_Mutation_p.S129T	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	129						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CGATGGCAGGAAAAAAGATGA	0.358000													13	46					0	0	0.004990	0	0
RASAL2	9462	broad.mit.edu	37	1	178412129	178412129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:178412129C>T	ENST00000448150.3	+	8	2011	c.1193C>T	c.(1192-1194)cCa>cTa	p.P398L	RASAL2_ENST00000367649.3_Missense_Mutation_p.P416L|RASAL2_ENST00000462775.1_Missense_Mutation_p.P268L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	268	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AAGTGGTATCCAGTGAGTACA	0.418000													33	34					0	0	0.012213	0	0
ZNF385B	151126	broad.mit.edu	37	2	180311384	180311384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:180311384G>A	ENST00000410066.1	-	7	1387	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.P160S|ZNF385B_ENST00000409343.1_Missense_Mutation_p.P186S|ZNF385B_ENST00000336917.5_Missense_Mutation_p.P160S	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	262						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CTCTTGGAGGGAGAAGTGGCT	0.463000													35	67					0	0	0.021022	0	0
LARS	51520	broad.mit.edu	37	5	145523002	145523002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:145523002C>T	ENST00000394434.2	-	19	2016	c.1850G>A	c.(1849-1851)gGa>gAa	p.G617E	LARS_ENST00000545646.1_Missense_Mutation_p.G571E|LARS_ENST00000510191.1_Missense_Mutation_p.G563E|LARS_ENST00000274562.9_Missense_Mutation_p.G590E	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	617					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTCTGCCTGTCCATGCAAGTT	0.418000													69	185					0	0	0.014410	0	0
ARID1B	57492	broad.mit.edu	37	6	157527627	157527627	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:157527627C>T	ENST00000346085.5	+	20	5353	c.5352C>T	c.(5350-5352)ttC>ttT	p.F1784F	ARID1B_ENST00000367148.1_Silent_p.F1824F|ARID1B_ENST00000275248.4_Silent_p.F1766F|ARID1B_ENST00000350026.5_Silent_p.F1771F	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1771					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCAGTAAGTTCGACAAGCTGC	0.512000													51	44					0	0	0.014410	0	0
ELTD1	64123	broad.mit.edu	37	1	79357242	79357242	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:79357242G>A	ENST00000370742.3	-	14	2040	c.1977C>T	c.(1975-1977)ttC>ttT	p.F659F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	659					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATAAAAAAATGAACATCCCCT	0.398000													12	29					0	0	0.016723	0	0
ANKRD42	338699	broad.mit.edu	37	11	82951905	82951905	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:82951905A>T	ENST00000260047.6	+	9	1916	c.1121A>T	c.(1120-1122)cAt>cTt	p.H374L	ANKRD42_ENST00000533342.1_Missense_Mutation_p.H375L|ANKRD42_ENST00000531895.1_Missense_Mutation_p.H375L|ANKRD42_ENST00000393392.2_Missense_Mutation_p.H347L			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	347										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TTTATAAGACATGGTGTTGAG	0.378000													26	60					0	0	0.004656	0	0
HLA-G	3135	broad.mit.edu	37	6	29796330	29796330	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:29796330C>T	ENST00000428701.1	+	4	532	c.354C>T	c.(352-354)acC>acT	p.T118T	HLA-G_ENST00000376828.2_Silent_p.T123T|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Silent_p.T118T	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	118	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GTTCTCACACCCTCCAGTGGA	0.667000													16	86					0	0	0.004007	0	0
C1orf198	84886	broad.mit.edu	37	1	230979542	230979542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:230979542G>A	ENST00000366663.5	-	3	625	c.485C>T	c.(484-486)tCc>tTc	p.S162F	C1orf198_ENST00000470540.1_Missense_Mutation_p.S124F|C1orf198_ENST00000523410.1_Missense_Mutation_p.S32F|C1orf198_ENST00000427697.2_5'UTR	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	162										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GAGGGCCTGGGAGCCCTGGGA	0.627000													95	187					0	0	0.014410	0	0
LFNG	3955	broad.mit.edu	37	7	2565122	2565122	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:2565122A>T	ENST00000222725.5	+	4	676	c.656A>T	c.(655-657)cAc>cTc	p.H219L	LFNG_ENST00000402045.1_Missense_Mutation_p.H90L|LFNG_ENST00000338732.3_Missense_Mutation_p.H90L|LFNG_ENST00000402506.1_Missense_Mutation_p.H148L|LFNG_ENST00000359574.3_Missense_Mutation_p.H219L	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	219					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		AGCTACCCGCACACGCGGGAC	0.672000													10	25					0	0	0.013537	0	0
LCE1B	353132	broad.mit.edu	37	1	152784987	152784987	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:152784987C>T	ENST00000360090.3	+	1	541	c.65C>T	c.(64-66)cCc>cTc	p.P22L		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	22	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			aagtgccctcccaagtgccTC	0.622000													34	100					0	0	0.017118	0	0
KBTBD7	84078	broad.mit.edu	37	13	41766536	41766536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:41766536G>A	ENST00000379483.3	-	1	2166	c.1858C>T	c.(1858-1860)Cct>Tct	p.P620S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	620							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGGCAGGAAGGATAAACACGA	0.428000													24	54					0	0	0.014323	0	0
MGA	23269	broad.mit.edu	37	15	41961893	41961893	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:41961893C>T	ENST00000219905.7	+	2	982	c.801C>T	c.(799-801)ccC>ccT	p.P267P	MGA_ENST00000389936.4_Silent_p.P267P|MGA_ENST00000545763.1_Silent_p.P267P|MGA_ENST00000570161.1_Silent_p.P267P|MGA_ENST00000566586.1_Silent_p.P267P|MGA_ENST00000568630.1_Intron	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	267						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATAATAAGCCCCAGAGAGATG	0.428000													7	19					0	0	0.001984	0	0
SLC47A1	55244	broad.mit.edu	37	17	19480675	19480675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:19480675G>A	ENST00000270570.4	+	17	1608	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	SLC47A1_ENST00000571335.1_Missense_Mutation_p.D254N|SLC47A1_ENST00000575023.1_Missense_Mutation_p.D206N|SLC47A1_ENST00000457293.1_Missense_Mutation_p.D508N|SLC47A1_ENST00000395585.1_Missense_Mutation_p.D508N|SLC47A1_ENST00000436810.2_3'UTR|RP11-1113L8.1_ENST00000574267.1_RNA	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	508						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TTTAACGAACGATGTTGGAAA	0.443000													31	88					0	0	0.009535	0	0
EHD3	30845	broad.mit.edu	37	2	31472268	31472268	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:31472268C>T	ENST00000322054.5	+	3	721	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	EHD3_ENST00000541626.1_Silent_p.L146L	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	146					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TAACCCTGTGCTGGAGAGCAT	0.597000													14	35					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	8976783	8976783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:8976783C>T	ENST00000397910.4	-	73	42486	c.42283G>A	c.(42283-42285)Ggc>Agc	p.G14095S	MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Missense_Mutation_p.G736S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14126				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						GTAGCTGAGCCCTTGCCCATA	0.567000													11	28					0	0	0.008291	0	0
GMFG	9535	broad.mit.edu	37	19	39819590	39819590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:39819590G>A	ENST00000598034.1	-	6	436	c.407C>T	c.(406-408)tCc>tTc	p.S136F	GMFG_ENST00000602185.1_Intron|GMFG_ENST00000601387.1_Intron|GMFG_ENST00000253054.8_Intron|GMFG_ENST00000595636.1_Intron|GMFG_ENST00000600322.1_Intron|GMFG_ENST00000594700.1_Intron|GMFG_ENST00000597595.1_Intron			O60234	GMFG_HUMAN	glia maturation factor, gamma	0	ADF-H.		E -> K (in dbSNP:rs34035414).		protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCAGACCCAGGACCCACACCA	0.498000													18	34					0	0	0.004990	0	0
DNAJB13	374407	broad.mit.edu	37	11	73681067	73681067	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:73681067A>G	ENST00000339764.1	+	8	1610	c.859A>G	c.(859-861)Aaa>Gaa	p.K287E	RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000543947.1_Missense_Mutation_p.K112E|DNAJB13_ENST00000537753.1_Missense_Mutation_p.K112E	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	287					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CCCCACTAAGAAAGGGGATCT	0.547000													50	120					0	0	0.014410	0	0
VAV1	7409	broad.mit.edu	37	19	6854012	6854012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:6854012G>A	ENST00000304076.2	+	25	2415	c.2321G>A	c.(2320-2322)cGa>cAa	p.R774Q	VAV1_ENST00000599806.1_Missense_Mutation_p.R741Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R699Q|VAV1_ENST00000602142.1_Missense_Mutation_p.R796Q|VAV1_ENST00000596764.1_Missense_Mutation_p.R764Q	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	796					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TTCTGCGCCCGAGACCGATCA	0.547000													30	102					0	0	0.010818	0	0
SDK2	54549	broad.mit.edu	37	17	71433893	71433893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:71433893G>A	ENST00000392650.3	-	8	985	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	SDK2_ENST00000388726.3_Missense_Mutation_p.P329S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	329	Ig-like C2-type 4.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCCTGACAGGGGATGTCCACC	0.557000													20	89					0	0	0.014323	0	0
APOB	338	broad.mit.edu	37	2	21225676	21225676	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:21225676C>T	ENST00000233242.1	-	29	12745	c.12618G>A	c.(12616-12618)ggG>ggA	p.G4206G		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4206					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	p.G4206G(1)		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)	TCCCAGGTTTCCCCGGAAACT	0.438000													155	363					0	0	0.014410	0	0
ALDH3A1	218	broad.mit.edu	37	17	19645922	19645922	+	Missense_Mutation	SNP	G	G	A	rs146746671		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:19645922G>A	ENST00000457500.2	-	3	745	c.416C>T	c.(415-417)cCc>cTc	p.P139L	ALDH3A1_ENST00000225740.6_Missense_Mutation_p.P139L|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.P139L|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.P66L|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.P139L	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	139					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CAGCTCCGAGGGCTTGAGGAC	0.617000													25	38					0	0	0.018920	0	0
TMC2	117532	broad.mit.edu	37	20	2552872	2552872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:2552872G>A	ENST00000358864.1	+	5	617	c.602G>A	c.(601-603)gGg>gAg	p.G201E		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	201	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGGGAAAGGGGAAAGGCAAG	0.488000													12	91					0	0	0.013537	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50188753	50188753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:50188753C>T	ENST00000335999.6	-	8	3091	c.2890G>A	c.(2890-2892)Gag>Aag	p.E964K		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	960										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TTGAGGCTCTCGGCCTCCAGC	0.672000													4	3					0	0	0.009096	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075500	76075500	+	RNA	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:76075500G>A	ENST00000395215.3	+	0	1140																											gagaggctgcgaaaggaggag	0.607000													9	352					0	0	0.013537	0	0
GIMAP5	55340	broad.mit.edu	37	7	150440017	150440017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:150440017G>A	ENST00000358647.3	+	3	1157	c.790G>A	c.(790-792)Gag>Aag	p.E264K	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGGAGAACGAGAGTAACTG	0.473000													18	37					0	0	0.010504	0	0
TRMT10A	93587	broad.mit.edu	37	4	100480449	100480449	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:100480449T>C	ENST00000273962.3	-	2	359	c.47A>G	c.(46-48)gAc>gGc	p.D16G	TRMT10A_ENST00000394877.3_Missense_Mutation_p.D16G|TRMT10A_ENST00000394876.2_Missense_Mutation_p.D16G	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)																		TTGCTTTTTGTCAACATTAGA	0.343000													13	44					0	0	0.020292	0	0
MRPL32	64983	broad.mit.edu	37	7	42977019	42977019	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:42977019C>T	ENST00000223324.2	+	3	598	c.411C>T	c.(409-411)atC>atT	p.I137I	MRPL32_ENST00000496564.1_Intron	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	137					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						CTGCAGAAATCAGACGACAGA	0.488000													13	25					0	0	0.013537	0	0
TRPM6	140803	broad.mit.edu	37	9	77407591	77407591	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:77407591C>T	ENST00000451710.3	-	19	2724	c.2487G>A	c.(2485-2487)agG>agA	p.R829R	TRPM6_ENST00000449912.2_Silent_p.R824R|TRPM6_ENST00000376864.4_Silent_p.R829R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.R824R|TRPM6_ENST00000360774.1_Silent_p.R829R			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	829					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATAGACTTTCCTGGTCCACG	0.398000													6	30					0	0	0.001984	0	0
LPAR2	9170	broad.mit.edu	37	19	19737823	19737823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:19737823G>A	ENST00000542587.1	-	5	1173	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	LPAR2_ENST00000586703.1_Missense_Mutation_p.H91Y|LPAR2_ENST00000407877.3_Missense_Mutation_p.H91Y			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	91					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GGACCAGTGTGGAACATGAGG	0.652000													3	13					0	0	0.009096	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100453084	100453084	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:100453084G>A	ENST00000279907.7	-	14	2183	c.1971C>T	c.(1969-1971)ttC>ttT	p.F657F	UHRF1BP1L_ENST00000545232.2_Silent_p.F307F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	657										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CATGTCTCTGGAAAATTGGAT	0.308000													19	15					0	0	0.007413	0	0
NBEA	26960	broad.mit.edu	37	13	35684971	35684971	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:35684971T>A	ENST00000540320.1	+	13	2392	c.1858T>A	c.(1858-1860)Ttg>Atg	p.L620M	NBEA_ENST00000400445.3_Missense_Mutation_p.L620M|NBEA_ENST00000379939.2_Missense_Mutation_p.L620M|NBEA_ENST00000310336.4_Missense_Mutation_p.L620M			Q8NFP9	NBEA_HUMAN	neurobeachin	620						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATACACATATTTGTCTGCTGA	0.333000													7	22					0	0	0.003080	0	0
MAP1A	4130	broad.mit.edu	37	15	43820842	43820842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:43820842G>A	ENST00000382031.1	+	5	7916	c.7885G>A	c.(7885-7887)Ggg>Agg	p.G2629R	MAP1A_ENST00000399453.1_Missense_Mutation_p.G2391R|MAP1A_ENST00000300231.5_Missense_Mutation_p.G2391R			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2391						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTGGGAACGTGGGGCCTGGCC	0.667000													8	13					0	0	0.003080	0	0
EPPK1	83481	broad.mit.edu	37	8	144942134	144942134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:144942134C>T	ENST00000525985.1	-	2	5359	c.5288G>A	c.(5287-5289)gGa>gAa	p.G1763E				P58107	EPIPL_HUMAN	epiplakin 1	1763						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTAGTTTTCTCCTTTCTTTAT	0.537000													16	42					0	0	0.008871	0	0
CCDC18	343099	broad.mit.edu	37	1	93646302	93646302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:93646302G>A	ENST00000557479.1	+	1	383	c.215G>A	c.(214-216)gGg>gAg	p.G72E	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000401026.3_5'UTR	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	0										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGTGCTGCCGGGGTTCGCTGG	0.701000													13	29					0	0	0.013537	0	0
PRR23B	389151	broad.mit.edu	37	3	138739084	138739084	+	Silent	SNP	T	T	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:138739084T>C	ENST00000329447.5	-	1	684	c.420A>G	c.(418-420)gaA>gaG	p.E140E	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	140										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGCGCAGAATTCCAGCTCGA	0.662000													14	43					0	0	0.020292	0	0
OLFML2B	25903	broad.mit.edu	37	1	161970012	161970012	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:161970012C>T	ENST00000294794.3	-	5	1263	c.840G>A	c.(838-840)caG>caA	p.Q280Q	OLFML2B_ENST00000367940.2_Silent_p.Q281Q	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	280										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGACCTGCCTCTGCAGGGGCC	0.592000													32	53					0	0	0.017118	0	0
HERC2P2	400322	broad.mit.edu	37	15	23300123	23300123	+	RNA	SNP	T	T	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:23300123T>G	ENST00000560464.1	-	0	4164																											CTTCAAATCCTGGGCTCGAAG	0.617000													5	15					0	0	0.001168	0	0
COL28A1	340267	broad.mit.edu	37	7	7571504	7571504	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:7571504G>A	ENST00000399429.3	-	3	296	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	52	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGCTGTCCACGATGAAGACAA	0.363000													19	23					0	0	0.016522	0	0
POF1B	79983	broad.mit.edu	37	X	84634306	84634306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:84634306C>T	ENST00000262753.4	-	2	299	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	POF1B_ENST00000373145.3_Missense_Mutation_p.V52M	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	52							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						TAGGTCCTCACTCGCTCATAC	0.567000													10	17					0	0	0.008291	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432834	104432834	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:104432834G>A	ENST00000361820.3	-	3	2460	c.1860C>T	c.(1858-1860)ctC>ctT	p.L620L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	620					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TCCCTCTCAGGAGATCACCCA	0.498000													27	44					0	0	0.006320	0	0
ZNF578	147660	broad.mit.edu	37	19	53014213	53014213	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:53014213C>T	ENST00000421239.2	+	6	823	c.579C>T	c.(577-579)tcC>tcT	p.S193S		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TTTCAACATCCCAAAGAATTT	0.368000													34	64					0	0	0.015359	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								17	51					0	0	0.004007	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35129947	35129947	+	RNA	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:35129947C>T	ENST00000436258.1	-	0	3422																											TCTCACAACACACCATGCCTC	0.318000													32	98					0	0	0.017118	0	0
FAM83F	113828	broad.mit.edu	37	22	40417711	40417711	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:40417711G>A	ENST00000333407.5	+	4	1291	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	399										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TGAGCCAGAAGGATGGCAGGA	0.652000													7	22					0	0	0.001984	0	0
MROH2B	133558	broad.mit.edu	37	5	41049459	41049459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:41049459C>T	ENST00000399564.4	-	14	1874	c.1424G>A	c.(1423-1425)aGa>aAa	p.R475K	MROH2B_ENST00000506092.2_Missense_Mutation_p.R30K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AATCAGAATTCTGATGATACT	0.478000													9	22					0	0	0.004482	0	0
ABCC11	85320	broad.mit.edu	37	16	48244997	48244997	+	Silent	SNP	G	G	A	rs139456533		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:48244997G>A	ENST00000394747.1	-	10	1819	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	ABCC11_ENST00000394748.1_Silent_p.I490I|ABCC11_ENST00000356608.2_Silent_p.I490I|ABCC11_ENST00000353782.5_Silent_p.I490I|ABCC11_ENST00000537808.1_Silent_p.I490I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	490						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CCCCATTGACGATCCCGGGAC	0.577000													39	83					0	0	0.007835	0	0
LNPEP	4012	broad.mit.edu	37	5	96333773	96333773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:96333773C>T	ENST00000231368.5	+	8	2269	c.1577C>T	c.(1576-1578)tCa>tTa	p.S526L	LNPEP_ENST00000395770.3_Missense_Mutation_p.S512L	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	526					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TCCTTAAATTCATCTCATCCA	0.294000													18	62					0	0	0.004990	0	0
OR4K13	390433	broad.mit.edu	37	14	20502527	20502527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:20502527G>A	ENST00000315693.2	-	1	392	c.391C>T	c.(391-393)Cat>Tat	p.H131Y		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTCATGTAATGGAGGGGTTTG	0.468000													28	69					0	0	0.005443	0	0
SLFN11	91607	broad.mit.edu	37	17	33687322	33687322	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:33687322G>C	ENST00000394566.1	-	5	1410	c.1138C>G	c.(1138-1140)Cca>Gca	p.P380A	SLFN11_ENST00000308377.4_Missense_Mutation_p.P380A	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	380						nucleus	ATP binding	p.P380T(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGTACACTGGTCTGCTAAGG	0.393000													4	79					0	0	0.014758	0	0
SALL1	6299	broad.mit.edu	37	16	51175273	51175273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:51175273G>A	ENST00000440970.1	-	2	1000	c.569C>T	c.(568-570)tCc>tTc	p.S190F	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S287F	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	287					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGATAAATGGGAACTTAGCGT	0.507000													39	77					0	0	0.006230	0	0
SHMT2	6472	broad.mit.edu	37	12	57626237	57626237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:57626237C>T	ENST00000393827.4	+	5	564	c.308C>T	c.(307-309)cCc>cTc	p.P103L	SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000557487.1_Intron|SHMT2_ENST00000449049.3_Splice_Site_p.P178_splice|SHMT2_ENST00000414700.3_Splice_Site_p.P178_splice|SHMT2_ENST00000328923.3_Splice_Site_p.P199_splice|SHMT2_ENST00000553474.1_Splice_Site_p.P178_splice			P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	199						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TCTGTCCAGCCCAAAACTGGC	0.587000													42	48					0	0	0.009718	0	0
PRR23B	389151	broad.mit.edu	37	3	138738775	138738775	+	Silent	SNP	A	A	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:138738775A>T	ENST00000329447.5	-	1	993	c.729T>A	c.(727-729)ggT>ggA	p.G243G	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	243	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGCGTGGGGACCTGGACTCC	0.657000													12	27					0	0	0.020292	0	0
KCNN4	3783	broad.mit.edu	37	19	44276176	44276176	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:44276176G>A	ENST00000262888.3	-	4	1190	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	265					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	ACAGGCAGACGATCTTGCCCC	0.557000													23	53					0	0	0.004656	0	0
STK33	65975	broad.mit.edu	37	11	8494745	8494745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:8494745G>A	ENST00000447869.1	-	2	1222	c.304C>T	c.(304-306)Cct>Tct	p.P102S	STK33_ENST00000358872.3_Intron|STK33_ENST00000315204.1_Missense_Mutation_p.P102S|STK33_ENST00000534493.1_Missense_Mutation_p.P61S|STK33_ENST00000396673.1_Missense_Mutation_p.P102S|STK33_ENST00000396672.1_Missense_Mutation_p.P102S			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	102						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CTTATGTGAGGAACTTTTCCT	0.393000													35	94					0	0	0.005524	0	0
PGM2	55276	broad.mit.edu	37	4	37836258	37836258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:37836258G>A	ENST00000381967.4	+	3	368	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	90					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CAGATACCTGGAAAAACAATT	0.343000													33	84					0	0	0.017118	0	0
SERPINF2	5345	broad.mit.edu	37	17	1657585	1657585	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:1657585G>A	ENST00000324015.3	+	10	1310	c.1233G>A	c.(1231-1233)gtG>gtA	p.V411V	SERPINF2_ENST00000382061.4_Silent_p.V411V|SERPINF2_ENST00000450523.2_Silent_p.V347V	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	411			V -> M (in APLID).		acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CCTTCAGCGTGAACCGCCCCT	0.652000													108	50					0	0	0.014410	0	0
ATP1A3	478	broad.mit.edu	37	19	42474402	42474402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:42474402G>A	ENST00000545399.1	-	18	2669	c.2516C>T	c.(2515-2517)cCc>cTc	p.P839L	ATP1A3_ENST00000302102.5_Missense_Mutation_p.P826L|ATP1A3_ENST00000602133.1_Missense_Mutation_p.P796L|ATP1A3_ENST00000543770.1_Missense_Mutation_p.P837L	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	826					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CGGGTTCCTGGGCTGTCTCTT	0.617000													23	41					0	0	0.018920	0	0
UNC80	285175	broad.mit.edu	37	2	210658531	210658531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:210658531G>A	ENST00000439458.1	+	7	966	c.886G>A	c.(886-888)Gat>Aat	p.D296N	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.D296N	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	296						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AAACTCCTTTGATGGAAGTCT	0.493000													21	28					0	0	0.010504	0	0
OR10G3	26533	broad.mit.edu	37	14	22038755	22038755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:22038755C>T	ENST00000303532.1	-	1	120	c.121G>A	c.(121-123)Gga>Aga	p.G41R		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AGCAGGTTTCCCAGCTGAGTC	0.448000													12	22					0	0	0.010729	0	0
RASAL1	8437	broad.mit.edu	37	12	113553068	113553068	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:113553068C>T	ENST00000546530.1	-	12	1290	c.1003_splice	c.e12-1	p.M335_splice	RASAL1_ENST00000446861.3_Splice_Site_p.M335_splice|RASAL1_ENST00000261729.5_Splice_Site_p.M335_splice|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Splice_Site_p.M335_splice	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	335	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGTTGGGGTCCACTGGGAGGA	0.562000													40	55					0	0	0.009718	0	0
MUC16	94025	broad.mit.edu	37	19	9083906	9083906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:9083906C>T	ENST00000397910.4	-	1	8112	c.7909G>A	c.(7909-7911)Gga>Aga	p.G2637R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2637	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGAAGCTCCAGACAGAGTC	0.478000													8	26					0	0	0.003080	0	0
ZNF733P	643955	broad.mit.edu	37	7	62758729	62758729	+	RNA	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:62758729C>T	ENST00000331425.6	-	0	148					NR_003952.1																						GCCATTCCTCCAGAGAGAATT	0.428000													14	37					0	0	0.020292	0	0
LARS	51520	broad.mit.edu	37	5	145519825	145519825	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:145519825C>T	ENST00000394434.2	-	21	2257		c.e21-1		LARS_ENST00000545646.1_Splice_Site|LARS_ENST00000510191.1_Splice_Site|LARS_ENST00000274562.9_Splice_Site	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase						leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCATTTGTCACTTCACAGATA	0.343000													7	39					0	0	0.001984	0	0
SMPD4P1	645280	broad.mit.edu	37	22	20977008	20977008	+	RNA	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:20977008G>A	ENST00000443839.1	-	0	1526																											TCCCAGGGTCGAGAAATTCCA	0.502000													6	18					0	0	0.001984	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914071	39914071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:39914071G>A	ENST00000425673.1	+	16	2615	c.2290G>A	c.(2290-2292)Gat>Aat	p.D764N	PLEKHG2_ENST00000409794.3_Missense_Mutation_p.D793N|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.D734N|PLEKHG2_ENST00000409797.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	793					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GATCCTGGAGGATTCGGATCT	0.647000													3	8					0	0	0.004672	0	0
RABEP2	79874	broad.mit.edu	37	16	28925708	28925708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:28925708G>A	ENST00000358201.4	-	5	1331	c.743C>T	c.(742-744)tCc>tTc	p.S248F	RABEP2_ENST00000357573.6_Missense_Mutation_p.S248F|RABEP2_ENST00000544477.1_Missense_Mutation_p.S177F	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	248					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TTGGGGCAGGGAGGAGCTGCT	0.672000													10	34					0	0	0.010729	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077466	32077466	+	RNA	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:32077466C>T	ENST00000354689.6	+	0	81				RP11-1166P10.6_ENST00000566806.1_RNA																							CCTCTGGATTCACCTTCAGTA	0.562000													59	164					0	0	0.014410	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11859513	11859513	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:11859513A>C	ENST00000396516.2	-	13	1748	c.1551T>G	c.(1549-1551)taT>taG	p.Y517*	ZC3H7A_ENST00000355758.4_Nonsense_Mutation_p.Y517*			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	517						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AGTGGCCTGAATATCTACATT	0.502000													30	31					0	0	0.008361	0	0
OR6K6	128371	broad.mit.edu	37	1	158725296	158725296	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:158725296G>T	ENST00000368144.2	+	1	787	c.691G>T	c.(691-693)Gca>Tca	p.A231S		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGCCATCCATGCAGCGGAAAT	0.483000													22	69					9.57634e-11	1.0598e-10	0.018920	1	0
STAB2	55576	broad.mit.edu	37	12	104046342	104046342	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:104046342G>A	ENST00000388887.2	+	12	1470	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	422	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGTAAATGAGCTTTTGGTGG	0.328000													9	15					0	0	0.008291	0	0
ZNF280D	54816	broad.mit.edu	37	15	56993092	56993092	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:56993092G>A	ENST00000558320.1	-	6	534	c.420C>T	c.(418-420)tcC>tcT	p.S140S	ZNF280D_ENST00000396245.1_Intron|ZNF280D_ENST00000559237.1_Intron|ZNF280D_ENST00000267807.7_Intron|ZNF280D_ENST00000559000.1_Intron	NM_001002844.1	NP_001002844.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		AACATCCAATGGATCCCTGAG	0.373000													12	17					0	0	0.013537	0	0
CCBE1	147372	broad.mit.edu	37	18	57103301	57103301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:57103301C>T	ENST00000439986.4	-	11	1097	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	CCBE1_ENST00000398179.2_Missense_Mutation_p.E83K	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	354					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)				AACACCTTTTCCTGCAGCTCA	0.537000													32	104					0	0	0.019004	0	0
SOX13	9580	broad.mit.edu	37	1	204093858	204093858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:204093858C>T	ENST00000367204.1	+	13	1574	c.1465C>T	c.(1465-1467)Cct>Tct	p.P489S		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	489					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGAGAAGTATCCTGACTACAA	0.622000													9	34					0	0	0.006214	0	0
MICAL2	9645	broad.mit.edu	37	11	12225819	12225819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:12225819C>T	ENST00000256194.4	+	4	575	c.287C>T	c.(286-288)cCc>cTc	p.P96L	MICAL2_ENST00000537344.1_Missense_Mutation_p.P96L|MICAL2_ENST00000379612.3_Missense_Mutation_p.P96L|MICAL2_ENST00000342902.5_Missense_Mutation_p.P96L|MICAL2_ENST00000527546.1_Missense_Mutation_p.P96L|MICAL2_ENST00000527195.1_3'UTR	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	96						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GGGGGAGGACCCTGTGGCTTG	0.557000													8	35					0	0	0.016723	0	0
CASR	846	broad.mit.edu	37	3	121980939	121980939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:121980939G>A	ENST00000498619.1	+	4	1495	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	CASR_ENST00000296154.5_Missense_Mutation_p.E353K|CASR_ENST00000490131.1_Missense_Mutation_p.E353K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	353					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGAGTTTTGGGAAGAAACATT	0.498000													14	38					0	0	0.016723	0	0
GCM1	8521	broad.mit.edu	37	6	52993247	52993247	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:52993247C>T	ENST00000259803.7	-	6	1279	c.1068G>A	c.(1066-1068)tgG>tgA	p.W356*		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	356						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CTGGATTTGGCCATAATGGGG	0.488000													29	71					0	0	0.012213	0	0
OR5D13	390142	broad.mit.edu	37	11	55541798	55541798	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:55541798G>A	ENST00000361760.1	+	1	885	c.885G>A	c.(883-885)agG>agA	p.R295R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R295R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACAGCCTTAGGAACAAAGATA	0.348000													14	32					0	0	0.003163	0	0
SLC22A14	9389	broad.mit.edu	37	3	38355224	38355224	+	Silent	SNP	C	C	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:38355224C>A	ENST00000273173.4	+	7	1261	c.1170C>A	c.(1168-1170)acC>acA	p.T390T	SLC22A14_ENST00000448498.1_Silent_p.T390T	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	390						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCAGGTTTACCGTCAGTTACA	0.577000													29	62					1.13719e-10	1.25703e-10	0.008361	1	0
C1orf173	127254	broad.mit.edu	37	1	75038269	75038269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:75038269C>T	ENST00000326665.5	-	14	3343	c.3125G>A	c.(3124-3126)aGg>aAg	p.R1042K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1042	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATCATCTTCCCTATTAGCTTC	0.468000													42	139					0	0	0.010771	0	0
KIF26A	26153	broad.mit.edu	37	14	104642925	104642925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:104642925C>T	ENST00000315264.7	+	11	3761	c.3383C>T	c.(3382-3384)tCc>tTc	p.S1128F	KIF26A_ENST00000423312.2_Missense_Mutation_p.S1267F			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1267					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACACTTGGCTCCCCCCGGCTG	0.697000													17	21					0	0	0.004990	0	0
ZNF483	158399	broad.mit.edu	37	9	114296142	114296142	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:114296142C>T	ENST00000309235.5	+	4	783	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	ZNF483_ENST00000358151.4_Silent_p.L209L|ZNF483_ENST00000355824.3_Silent_p.L209L	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	209	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CCTAGAATTTCTGGGTAAAGA	0.403000													15	62					0	0	0.006122	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161734	57161734	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:57161734C>T	ENST00000371244.4	+	6	756	c.690C>T	c.(688-690)gtC>gtT	p.V230V		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	230	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GAGGGGGTGTCTTTTATATCC	0.448000													86	197					0	0	0.014410	0	0
EOMES	8320	broad.mit.edu	37	3	27758863	27758863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:27758863C>T	ENST00000295743.4	-	6	1962	c.1759G>A	c.(1759-1761)Gct>Act	p.A587T	EOMES_ENST00000449599.1_Missense_Mutation_p.A606T|EOMES_ENST00000537516.1_Missense_Mutation_p.A311T			O95936	EOMES_HUMAN	eomesodermin	587	Required for transcription activation (By similarity).				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GGTAGTCCAGCTGCCATCTTC	0.532000													17	36					0	0	0.004990	0	0
OR51S1	119692	broad.mit.edu	37	11	4869499	4869499	+	Silent	SNP	A	A	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:4869499A>G	ENST00000322101.2	-	1	1015	c.940T>C	c.(940-942)Ttg>Ctg	p.L314L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGGCTGCAACCTGTTGAGT	0.453000													23	45					0	0	0.016522	0	0
CPED1	79974	broad.mit.edu	37	7	120776102	120776102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:120776102C>T	ENST00000310396.5	+	14	2124	c.1657C>T	c.(1657-1659)Cca>Tca	p.P553S	CPED1_ENST00000423795.1_Missense_Mutation_p.P333S|CPED1_ENST00000450913.2_Missense_Mutation_p.P553S	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		aGCTGCAGTTCCACAAATTAA	0.244000													5	26					0	0	0.003080	0	0
STXBP5L	9515	broad.mit.edu	37	3	120957823	120957823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:120957823C>T	ENST00000273666.6	+	13	1461	c.1190C>T	c.(1189-1191)cCa>cTa	p.P397L	STXBP5L_ENST00000492541.1_Missense_Mutation_p.P397L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P397L|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P397L|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P397L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	397					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTAGTTTTCCAATCTTTGAA	0.308000													10	21					0	0	0.013537	0	0
CEP85L	387119	broad.mit.edu	37	6	118801628	118801628	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:118801628G>A	ENST00000368491.3	-	9	2415	c.1794C>T	c.(1792-1794)ccC>ccT	p.P598P	CEP85L_ENST00000368488.5_Silent_p.P601P	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	598						centrosome											CATCTAACATGGGAAGGCGGA	0.338000													21	30					0	0	0.012319	0	0
TTYH1	57348	broad.mit.edu	37	19	54940485	54940485	+	Splice_Site	SNP	G	G	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:54940485G>C	ENST00000301194.4	+	6	857	c.734_splice	c.e6-1	p.V245_splice	TTYH1_ENST00000376530.3_Splice_Site_p.V245_splice|TTYH1_ENST00000489425.1_3'UTR|TTYH1_ENST00000391739.3_Splice_Site_p.V294_splice|TTYH1_ENST00000376531.3_Splice_Site_p.V245_splice			Q9H313	TTYH1_HUMAN	tweety family member 1	245					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CCCACTCTAGGATGACAGTCA	0.642000													30	71					0	0	0.010818	0	0
POLR2L	5441	broad.mit.edu	37	11	840420	840420	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:840420G>T	ENST00000322028.4	-	2	192	c.156C>A	c.(154-156)caC>caA	p.H52Q		NM_021128.4	NP_066951.1	P62875	RPAB5_HUMAN	polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa	52					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			lung(1)	1		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCAGGTCCACGTGGGCCAGCA	0.632000													5	141					0.00116845	0.0012796	0.001168	1	0
DECR1	1666	broad.mit.edu	37	8	91057137	91057137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:91057137C>T	ENST00000522161.1	+	10	1455	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	DECR1_ENST00000220764.2_Missense_Mutation_p.P267S			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	267					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGGCAGAATTCCCTGTGGTCG	0.423000													30	95					0	0	0.008361	0	0
ADRBK2	157	broad.mit.edu	37	22	26107084	26107084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:26107084C>T	ENST00000324198.5	+	17	1637	c.1445C>T	c.(1444-1446)gCc>gTc	p.A482V		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	482	AGC-kinase C-terminal.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GCTGCTGATGCCTTTGATATT	0.413000													14	37					0	0	0.004990	0	0
KAT2A	2648	broad.mit.edu	37	17	40271325	40271325	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:40271325G>A	ENST00000225916.5	-	6	1064	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	337					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTCCACTCGGAACTTTTCCA	0.567000													46	87					0	0	0.014410	0	0
PPARA	5465	broad.mit.edu	37	22	46614265	46614265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:46614265C>T	ENST00000396000.2	+	5	740	c.475C>T	c.(475-477)Cac>Tac	p.H159Y	PPARA_ENST00000402126.1_Missense_Mutation_p.H159Y|PPARA_ENST00000407236.1_Missense_Mutation_p.H159Y|PPARA_ENST00000262735.5_Missense_Mutation_p.H159Y|PPARA_ENST00000434345.2_Missense_Mutation_p.H159Y			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	159					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|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|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TTGTCGATTTCACAAGTGCCT	0.498000													60	109					0	0	0.014410	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173848292	173848292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:173848292C>T	ENST00000264111.6	+	11	1257	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.S358F|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.S358F|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.S214F|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.S205F|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.S205F|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.S138F|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.S187F|RAPGEF4_ENST00000473043.1_3'UTR			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	358					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AAAGCCTTATCCCATCTTTCT	0.393000													26	58					0	0	0.008361	0	0
SIRPB1	10326	broad.mit.edu	37	20	1592244	1592244	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:1592244G>A	ENST00000279477.7	-	2	256	c.192C>T	c.(190-192)ccC>ccT	p.P64P	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Silent_p.P64P|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	64	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ACCACTGGATGGGCCCCACAG	0.532000													17	58					0	0	0.004990	0	0
SNX20	124460	broad.mit.edu	37	16	50709816	50709816	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:50709816C>T	ENST00000300590.3	-	3	319	c.147G>A	c.(145-147)ctG>ctA	p.L49L	SNX20_ENST00000423026.2_Silent_p.L49L|SNX20_ENST00000330943.4_Silent_p.L49L	NM_153337.2	NP_699168.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	49					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						AGTTGGAGCTCAGGCCACTGT	0.562000													25	64					0	0	0.005443	0	0
ARSA	410	broad.mit.edu	37	22	51065360	51065360	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:51065360G>A	ENST00000547307.1	-	3	985	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	ARSA_ENST00000216124.5_Silent_p.L196L|ARSA_ENST00000356098.5_Silent_p.L196L|ARSA_ENST00000395619.3_Silent_p.L196L|ARSA_ENST00000395621.3_Silent_p.L196L|ARSA_ENST00000547805.1_Silent_p.L194L|ARSA_ENST00000453344.2_Silent_p.L110L			P15289	ARSA_HUMAN	arylsulfatase A	194						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	AGTCCGGGCAGCCAGGGGGGC	0.672000													34	86					0	0	0.013726	0	0
KIAA1804	84451	broad.mit.edu	37	1	233511738	233511738	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:233511738G>A	ENST00000366624.3	+	7	2013	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	MLK4_ENST00000366622.1_Silent_p.R30R	NM_032435.2	NP_115811.2																					ATGTAAAAAGGAATTTTAAGA	0.348000													9	46					0	0	0.006214	0	0
ZNF594	84622	broad.mit.edu	37	17	5085600	5085600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:5085600G>A	ENST00000399604.4	-	1	2092	c.1952C>T	c.(1951-1953)cCc>cTc	p.P651L	ZNF594_ENST00000575779.1_Missense_Mutation_p.P651L			Q96JF6	ZN594_HUMAN	zinc finger protein 594	651					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						ACATTCATAGGGTTTCTCTCC	0.423000													45	37					0	0	0.013114	0	0
C9orf163	158055	broad.mit.edu	37	9	139379493	139379493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:139379493C>T	ENST00000354376.1	+	1	1547	c.593C>T	c.(592-594)tCc>tTc	p.S198F		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	198							protein binding			kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		ACCCTGTGGTCCCACCGGGGT	0.607000											OREG0019617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	9					0	0	0.009096	0	0
ATP9A	10079	broad.mit.edu	37	20	50287714	50287714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:50287714G>A	ENST00000338821.5	-	12	1384	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	ATP9A_ENST00000311637.5_Missense_Mutation_p.R238C|ATP9A_ENST00000402822.1_Missense_Mutation_p.R253C	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	374					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTGCTGGAGCGAACCACGGTC	0.552000													22	45					0	0	0.014323	0	0
VWA7	80737	broad.mit.edu	37	6	31742374	31742374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:31742374C>T	ENST00000375686.3	-	5	877	c.640G>A	c.(640-642)Gag>Aag	p.E214K	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.E214K|VWA7_ENST00000375688.4_Missense_Mutation_p.E214K	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	214						extracellular region											CAGCTCAACTCCTCGCAATCG	0.577000													79	293					0	0	0.014410	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769665	112769665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:112769665G>A	ENST00000390666.3	-	1	1063	c.872C>T	c.(871-873)tCc>tTc	p.S291F	CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	291					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AGTTCCCCGGGAACTCTCCCC	0.632000													16	26					0	0	0.004990	0	0
DSC1	1823	broad.mit.edu	37	18	28712551	28712551	+	Missense_Mutation	SNP	C	C	T	rs147041330	byFrequency	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:28712551C>T	ENST00000257197.3	-	14	2479	c.2218G>A	c.(2218-2220)Gga>Aga	p.G740R	DSC1_ENST00000257198.5_Missense_Mutation_p.G740R|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	740					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCTCCAGGTCCTTCAGTATTT	0.343000													18	76					0	0	0.008871	0	0
LRRC47	57470	broad.mit.edu	37	1	3699293	3699293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:3699293G>A	ENST00000378251.1	-	5	1372	c.1345C>T	c.(1345-1347)Ccg>Tcg	p.P449S		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	449					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ACAAGACACGGGTAATTTTCA	0.443000													28	74					0	0	0.007291	0	0
GLDC	2731	broad.mit.edu	37	9	6620207	6620207	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:6620207C>T	ENST00000321612.6	-	3	597	c.447G>A	c.(445-447)cgG>cgA	p.R149R		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	149					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCAGTAAGTTCCGCAAAATCG	0.443000													19	25					0	0	0.008871	0	0
MYO3B	140469	broad.mit.edu	37	2	171238569	171238569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:171238569G>A	ENST00000334231.6	+	10	1042	c.1042G>A	c.(1042-1044)Gct>Act	p.A348T	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.A339T|MYO3B_ENST00000408978.4_Missense_Mutation_p.A339T			Q8WXR4	MYO3B_HUMAN	myosin IIIB	339	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP 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						TGTGGAAGATGCTGAAAAATA	0.363000													10	32					0	0	0.013537	0	0
SACS	26278	broad.mit.edu	37	13	23912862	23912862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:23912862G>A	ENST00000382298.3	-	10	5741	c.5153C>T	c.(5152-5154)tCc>tTc	p.S1718F	SACS_ENST00000382292.3_Missense_Mutation_p.S1718F|SACS_ENST00000402364.1_Missense_Mutation_p.S968F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1718					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGAAGAGCAGGATTTTTTTTT	0.358000													8	34					0	0	0.004482	0	0
SRGAP2	23380	broad.mit.edu	37	1	206634486	206634486	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:206634486C>T	ENST00000414007.1	+	19	2517	c.2517C>T	c.(2515-2517)ccC>ccT	p.P839P				O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	979					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CCTTGGAGCCCCTCAAAACCT	0.622000													10	39					0	0	0.008291	0	0
SCRIB	23513	broad.mit.edu	37	8	144895852	144895852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:144895852G>A	ENST00000356994.2	-	4	407	c.401C>T	c.(400-402)gCc>gTc	p.A134V	SCRIB_ENST00000377533.3_Missense_Mutation_p.A53V|SCRIB_ENST00000320476.3_Missense_Mutation_p.A134V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	134	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ATCATTCAGGGCCAGGTGAGC	0.642000													17	30					0	0	0.007413	0	0
KIF16B	55614	broad.mit.edu	37	20	16354938	16354938	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:16354938G>C	ENST00000354981.2	-	20	3471	c.3314C>G	c.(3313-3315)gCt>gGt	p.A1105G	KIF16B_ENST00000355755.3_Missense_Mutation_p.A1105G|KIF16B_ENST00000408042.1_Missense_Mutation_p.A1105G|KIF16B_ENST00000378003.2_Missense_Mutation_p.A331G	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1105					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGATTTTTCAGCACTGACTGG	0.473000													29	72					0	0	0.008361	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427331	27427331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:27427331G>A	ENST00000310574.3	-	9	1476	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*	SLC5A6_ENST00000408041.1_Nonsense_Mutation_p.Q335*	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	335					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CTTCTCACCTGGTCTGGGGCT	0.592000													14	48					0	0	0.020292	0	0
CHCHD5	84269	broad.mit.edu	37	2	113346455	113346455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:113346455C>T	ENST00000324913.5	+	4	529	c.322C>T	c.(322-324)Cct>Tct	p.P108S	CHCHD5_ENST00000409719.1_3'UTR	NM_032309.2	NP_115685.1	Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	108										NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						ACAGCCACTTCCTGCCTCCTG	0.597000													5	23					0	0	0.014758	0	0
FAT3	120114	broad.mit.edu	37	11	92087445	92087445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:92087445C>T	ENST00000298047.6	+	1	2184	c.2167C>T	c.(2167-2169)Cca>Tca	p.P723S	FAT3_ENST00000525166.1_Missense_Mutation_p.P573S|FAT3_ENST00000541502.1_Missense_Mutation_p.P723S|FAT3_ENST00000409404.2_Missense_Mutation_p.P723S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	723					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAGACAGGGACCATATTTTGA	0.398000										TCGA Ovarian(4;0.039)			157	399					0	0	0.014410	0	0
NFASC	23114	broad.mit.edu	37	1	204949559	204949559	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:204949559C>T	ENST00000367172.4	+	20	2566	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	NFASC_ENST00000367169.4_Silent_p.I746I|NFASC_ENST00000360049.4_Silent_p.I742I|NFASC_ENST00000339876.6_Silent_p.I746I|NFASC_ENST00000401399.1_Silent_p.I746I|NFASC_ENST00000338586.6_Silent_p.I746I|NFASC_ENST00000539706.1_Silent_p.I742I|NFASC_ENST00000367171.4_Silent_p.I731I|NFASC_ENST00000513543.1_Silent_p.I742I|NFASC_ENST00000404907.1_Silent_p.I742I|NFASC_ENST00000338515.6_Silent_p.I746I|NFASC_ENST00000367170.4_Silent_p.I746I|NFASC_ENST00000404076.1_Silent_p.I725I			O94856	NFASC_HUMAN	neurofascin	746	Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACATGGAGATCACGTGGACGG	0.602000													15	13					0	0	0.004007	0	0
TRAV41	28640	broad.mit.edu	37	14	22788987	22788987	+	RNA	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:22788987C>T	ENST00000390468.1	+	0	200																											GGCATTGTTTCCTTGTTTATG	0.463000													10	17					0	0	0.010729	0	0
MIR519B	574469	broad.mit.edu	37	19	54198487	54198487	+	RNA	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:54198487G>A	ENST00000385090.1	+	0	21					NR_030191.1																						CCCTCTAGAGGGAAGCGCTTT	0.408000													38	76					0	0	0.009718	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646705	80646705	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:80646705G>A	ENST00000466387.1	+	13	1993	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	CTNNA2_ENST00000343114.3_Silent_p.E102E|CTNNA2_ENST00000402739.4_Silent_p.E423E|CTNNA2_ENST00000540488.1_Silent_p.E423E|CTNNA2_ENST00000496558.1_Silent_p.E423E|CTNNA2_ENST00000361291.4_Silent_p.E457E|CTNNA2_ENST00000541047.1_Silent_p.E423E			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	423					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTTTCCGTGAGCATGCCAACA	0.443000													24	47					0	0	0.008361	0	0
TRRAP	8295	broad.mit.edu	37	7	98609157	98609157	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:98609157A>G	ENST00000359863.4	+	71	11503	c.11295_splice	c.e71+1	p.K3765_splice	TRRAP_ENST00000446306.3_Splice_Site_p.K3754_splice|TRRAP_ENST00000355540.3_Splice_Site_p.K3736_splice	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3765	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAAACTTTAAGGTGGGTCTC	0.622000													11	53					0	0	0.008291	0	0
MCF2	4168	broad.mit.edu	37	X	138670580	138670580	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:138670580C>T	ENST00000520602.1	-	24	2853	c.2568G>A	c.(2566-2568)gtG>gtA	p.V856V	MCF2_ENST00000370576.4_Silent_p.V796V|MCF2_ENST00000338585.6_Silent_p.V812V|MCF2_ENST00000536274.1_Silent_p.V757V|MCF2_ENST00000519895.1_Silent_p.V872V|MCF2_ENST00000414978.1_Silent_p.V856V|MCF2_ENST00000370573.4_Silent_p.V796V|MCF2_ENST00000370578.4_Silent_p.V941V			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	796					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ACGTCATCTTCACATCTACAT	0.333000													17	28					0	0	0.007413	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104512202	104512202	+	Silent	SNP	A	A	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:104512202A>T	ENST00000372582.1	+	5	1431	c.675A>T	c.(673-675)cgA>cgT	p.R225R	IL1RAPL2_ENST00000344799.4_Silent_p.R225R	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	225	Ig-like C2-type 2.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGTAAGACGAACAACTGAAT	0.328000													11	22					0	0	0.008291	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805812	44805812	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:44805812C>T	ENST00000309315.4	+	17	2415	c.2292C>T	c.(2290-2292)acC>acT	p.T764T	ZMIZ2_ENST00000413916.1_Silent_p.T706T|ZMIZ2_ENST00000265346.7_Silent_p.T738T|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Silent_p.T764T|ZMIZ2_ENST00000433667.1_Silent_p.T732T	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	764	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCCCACCCACCACGCCCAGCA	0.632000													14	59					0	0	0.020292	0	0
VWA3B	200403	broad.mit.edu	37	2	98914416	98914416	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:98914416C>T	ENST00000477737.1	+	24	3408	c.3204C>T	c.(3202-3204)ttC>ttT	p.F1068F	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1068										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGTGGGCTTCAGTTACGGAG	0.537000													25	53					0	0	0.004656	0	0
IKBKE	9641	broad.mit.edu	37	1	206658624	206658624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:206658624C>T	ENST00000367120.3	+	15	1970	c.1597C>T	c.(1597-1599)Cag>Tag	p.Q533*	IKBKE_ENST00000537984.1_Nonsense_Mutation_p.Q448*|IKBKE_ENST00000462698.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	533					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GAGCCGGGATCAGGTACATGA	0.567000													10	56					0	0	0.016723	0	0
LRWD1	222229	broad.mit.edu	37	7	102108588	102108588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:102108588C>T	ENST00000292616.5	+	6	910	c.758C>T	c.(757-759)tCg>tTg	p.S253L		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	253					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GCCTCCCCGTCGGCCCAGGTG	0.687000													7	11					0	0	0.001984	0	0
NSUN7	79730	broad.mit.edu	37	4	40778268	40778268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:40778268G>A	ENST00000381782.2	+	7	1523	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E	NSUN7_ENST00000316607.5_Missense_Mutation_p.G343E	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ACAAAAATAGGATGTAAAAGT	0.264000													14	38					0	0	0.004990	0	0
XDH	7498	broad.mit.edu	37	2	31571809	31571809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:31571809G>A	ENST00000379416.3	-	27	3055	c.3007C>T	c.(3007-3009)Ccc>Tcc	p.P1003S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1003					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			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)	AACTTGGTGGGAATTATGCAC	0.388000													11	20					0	0	0.013537	0	0
SYCP2L	221711	broad.mit.edu	37	6	10961628	10961628	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:10961628G>A	ENST00000283141.6	+	27	2642	c.2346G>A	c.(2344-2346)aaG>aaA	p.K782K		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	782						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ACCTTGAGAAGGAGGTTCTGG	0.383000													16	53					0	0	0.004007	0	0
OR11G2	390439	broad.mit.edu	37	14	20665781	20665781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:20665781C>T	ENST00000357366.3	+	1	287	c.287C>T	c.(286-288)cCc>cTc	p.P96L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	96					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)		CTCCACGCCCCCATGTACATC	0.522000													21	65					0	0	0.021523	0	0
ATP4A	495	broad.mit.edu	37	19	36051759	36051759	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:36051759T>G	ENST00000262623.3	-	5	524	c.496A>C	c.(496-498)Acc>Ccc	p.T166P		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	166					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	ATGATGTTGGTGCTCTTGAAT	0.567000													47	84					0	0	0.014410	0	0
LEMD3	23592	broad.mit.edu	37	12	65634721	65634721	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:65634721T>C	ENST00000308330.2	+	9	2185	c.2159T>C	c.(2158-2160)gTt>gCt	p.V720A		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	720	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GATAGAGCTGTTGACTTCCTT	0.408000													18	15					0	0	0.008871	0	0
ITGA4	3676	broad.mit.edu	37	2	182360652	182360652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:182360652C>T	ENST00000397033.2	+	14	1958	c.1528C>T	c.(1528-1530)Cca>Tca	p.P510S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	510					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CAAGGAAGTTCCAGGTTACAT	0.423000													18	60					0	0	0.008871	0	0
ZNF224	7767	broad.mit.edu	37	19	44610703	44610703	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:44610703C>T	ENST00000336976.6	+	6	644	c.390C>T	c.(388-390)ttC>ttT	p.F130F	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	130					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AAGGTGATTTCCCCTGCCAGA	0.433000													19	45					0	0	0.007413	0	0
DNAH17	8632	broad.mit.edu	37	17	76423064	76423064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:76423064C>T	ENST00000389840.5	-	78	12907	c.12783G>A	c.(12781-12783)atG>atA	p.M4261I	DNAH17_ENST00000585328.1_Missense_Mutation_p.M4233I|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											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)			TCAGGATGTTCATTCTTTCAC	0.542000													6	20					0	0	0.003080	0	0
GCNT3	9245	broad.mit.edu	37	15	59910965	59910965	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:59910965C>T	ENST00000396065.1	+	3	976	c.528C>T	c.(526-528)gtC>gtT	p.V176V	GCNT3_ENST00000560585.1_Silent_p.V176V	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	176					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGAGGCGGTCAAAGCAATTA	0.473000													30	63					0	0	0.006320	0	0
DTX1	1840	broad.mit.edu	37	12	113496249	113496249	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:113496249G>A	ENST00000257600.3	+	1	755	c.252G>A	c.(250-252)caG>caA	p.Q84Q		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	84	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGTTTCGCCAGGACACAGGTG	0.612000													31	41					0	0	0.009535	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50664527	50664527	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:50664527T>C	ENST00000439308.2	-	9	2277	c.1785A>G	c.(1783-1785)atA>atG	p.I595M	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.I595M	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	595					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGCAGACGTATATGTCGTGGG	0.557000													52	149					0	0	0.014410	0	0
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:15323276A>T	ENST00000455308.2	-	0	572					NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308000													3	10					0	0	0.003080	0	0
ASH1L	55870	broad.mit.edu	37	1	155429661	155429661	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:155429661G>A	ENST00000368346.3	-	4	5652	c.5013C>T	c.(5011-5013)tcC>tcT	p.S1671S	ASH1L_ENST00000392403.3_Silent_p.S1671S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1671	Ser-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGGCCGCTGGGAGGGTTTAT	0.403000													27	55					0	0	0.008361	0	0
TPO	7173	broad.mit.edu	37	2	1520688	1520688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:1520688C>T	ENST00000345913.4	+	15	2643	c.2552C>T	c.(2551-2553)tCc>tTc	p.S851F	TPO_ENST00000349624.3_Missense_Mutation_p.S678F|TPO_ENST00000382198.1_Missense_Mutation_p.S678F|TPO_ENST00000382201.3_Missense_Mutation_p.S794F|TPO_ENST00000346956.3_Missense_Mutation_p.S807F|TPO_ENST00000329066.4_Missense_Mutation_p.S851F|TPO_ENST00000337415.3_Missense_Mutation_p.S851F|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	851					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.S851F(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACTTGGATCTCCATGTCGCTG	0.572000													20	38					0	0	0.012319	0	0
INSRR	3645	broad.mit.edu	37	1	156813996	156813996	+	Silent	SNP	A	A	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:156813996A>C	ENST00000368195.3	-	15	3210	c.2814T>G	c.(2812-2814)gcT>gcG	p.A938A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	938					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AACCAAGGGCAGCAAGAACGA	0.587000													16	72					0	0	0.006122	0	0
PXDNL	137902	broad.mit.edu	37	8	52387578	52387578	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:52387578G>A	ENST00000356297.4	-	7	748	c.648C>T	c.(646-648)ctC>ctT	p.L216L	PXDNL_ENST00000543296.1_Silent_p.L216L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	216	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACGCCCATGGAGTCTCCTGG	0.483000													5	10					0	0	0.014758	0	0
CHCHD3	54927	broad.mit.edu	37	7	132754950	132754950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:132754950G>A	ENST00000262570.5	-	2	265	c.121C>T	c.(121-123)Cca>Tca	p.P41S	CHCHD3_ENST00000448878.1_Missense_Mutation_p.P41S|CHCHD3_ENST00000476546.1_Intron|CHCHD3_ENST00000542753.1_Missense_Mutation_p.P41S	NM_017812.2	NP_060282.1	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	41					inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						GAACCAGATGGAGAGGATTCC	0.358000													8	33					0	0	0.013537	0	0
FBLN2	2199	broad.mit.edu	37	3	13660447	13660447	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:13660447G>A	ENST00000404922.3	+	7	2102	c.1983G>A	c.(1981-1983)ctG>ctA	p.L661L	FBLN2_ENST00000492059.1_Silent_p.L661L|FBLN2_ENST00000535798.1_Silent_p.L687L|FBLN2_ENST00000295760.7_Silent_p.L661L	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	661						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCCTGCACTGAAGTCAGAAT	0.602000													8	18					0	0	0.008291	0	0
MEOX2	4223	broad.mit.edu	37	7	15666406	15666406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:15666406C>T	ENST00000262041.5	-	2	1064	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	219					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ACTGCTATCTCGTATCGCCTC	0.418000													25	64					0	0	0.007291	0	0
KRT81	3887	broad.mit.edu	37	12	52681839	52681839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:52681839C>T	ENST00000327741.5	-	5	897	c.829G>A	c.(829-831)Gag>Aag	p.E277K	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	277	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTTAATCTCGGCAATGATG	0.587000													25	39					0	0	0.018920	0	0
OR2L13	284521	broad.mit.edu	37	1	248263173	248263173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:248263173C>T	ENST00000366478.2	+	3	833	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	OR2L13_ENST00000358120.2_Missense_Mutation_p.P166S	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	166					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)			CCTTCATATTCCCTACTGCAG	0.458000													167	119					0	0	0.014410	0	0
FAM110B	90362	broad.mit.edu	37	8	59058929	59058929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:59058929G>A	ENST00000361488.3	+	5	1020	c.140G>A	c.(139-141)aGg>aAg	p.R47K	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	47						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				AACCCCAAGAGGCTCAGCGCC	0.672000													10	24					0	0	0.008291	0	0
MYH4	4622	broad.mit.edu	37	17	10351428	10351428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:10351428C>T	ENST00000255381.2	-	34	4782	c.4672G>A	c.(4672-4674)Gaa>Aaa	p.E1558K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1558					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGCCTTCTTCATGCTCAAGA	0.333000													40	29					0	0	0.006230	0	0
NEK2	4751	broad.mit.edu	37	1	211846988	211846988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:211846988C>T	ENST00000366999.4	-	3	530	c.392G>A	c.(391-393)aGt>aAt	p.S131N	NEK2_ENST00000366998.3_Missense_Mutation_p.S131N|NEK2_ENST00000540251.1_Missense_Mutation_p.S88N	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	131	Protein kinase.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		ACCACCATCACTTCGTCTGTG	0.458000													28	112					0	0	0.007291	0	0
SPDYC	387778	broad.mit.edu	37	11	64939939	64939939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:64939939G>A	ENST00000377185.2	+	5	461	c.379G>A	c.(379-381)Ggc>Agc	p.G127S		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	127	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GGACCTGGAGGGCCCCAAATG	0.557000													44	113					0	0	0.014410	0	0
TCF23	150921	broad.mit.edu	37	2	27373171	27373171	+	Missense_Mutation	SNP	G	G	A	rs138845716		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:27373171G>A	ENST00000296096.5	+	2	533	c.403G>A	c.(403-405)Gag>Aag	p.E135K		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	135					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTCGGCCACGAGTTGCCTGG	0.642000													54	150					0	0	0.014410	0	0
CRHBP	1393	broad.mit.edu	37	5	76251650	76251650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:76251650G>A	ENST00000274368.4	+	4	928	c.506G>A	c.(505-507)gGa>gAa	p.G169E	CRHBP_ENST00000506501.1_Missense_Mutation_p.G169E	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	169					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CCAGGAAATGGATTCACATTA	0.443000													113	236					0	0	0.014410	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171375	207171375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:207171375C>T	ENST00000374423.3	+	5	2509	c.2123C>T	c.(2122-2124)tCt>tTt	p.S708F		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	708							nucleic acid binding|zinc ion binding	p.S708C(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTCTGAGTTCTGATTCTCCG	0.408000													18	36					0	0	0.006122	0	0
OR51I2	390064	broad.mit.edu	37	11	5475249	5475249	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:5475249C>T	ENST00000341449.2	+	1	612	c.531C>T	c.(529-531)tcC>tcT	p.S177S	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTCACTCCTACTGCCTGC	0.478000													32	68					0	0	0.009535	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188595	140188595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:140188595C>T	ENST00000530339.1	+	1	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S608L|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S608L	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTACGAGCTG	0.677000													22	63					0	0	0.014323	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136321	40136321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:40136321G>A	ENST00000278198.2	-	2	3485	c.1522C>T	c.(1522-1524)Cca>Tca	p.P508S	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P508S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P508S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P508S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	508					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCAGTCACTGGGATGGTGAAG	0.502000													22	43					0	0	0.012319	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837257	12837257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:12837257G>A	ENST00000357726.4	+	3	994	c.967G>A	c.(967-969)Gag>Aag	p.E323K		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	323										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	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;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGCTAAAAGAGCTAGACCT	0.572000													56	110					0	0	0.014410	0	0
TLL1	7092	broad.mit.edu	37	4	166946521	166946521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:166946521C>T	ENST00000061240.2	+	9	1743	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	TLL1_ENST00000513213.1_Missense_Mutation_p.P366S|TLL1_ENST00000507499.1_Missense_Mutation_p.P366S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	366	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCCAGGATTTCCCAATGGCTA	0.383000													27	33					0	0	0.012213	0	0
ERO1L	30001	broad.mit.edu	37	14	53118997	53118997	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:53118997G>A	ENST00000395686.3	-	13	1308	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	362					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					AGCAAAAAATGAATTCTCATC	0.279000													19	52					0	0	0.010504	0	0
VSIG4	11326	broad.mit.edu	37	X	65259822	65259822	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:65259822G>A	ENST00000455586.2	-	1	145	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	VSIG4_ENST00000412866.2_Silent_p.L7L|VSIG4_ENST00000374737.4_Silent_p.L7L	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	7					complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGAGTAGCAGGCCCAGTAAG	0.562000													20	14					0	0	0.004656	0	0
NTRK3	4916	broad.mit.edu	37	15	88476264	88476264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:88476264C>T	ENST00000394480.1	-	16	2189	c.1868G>A	c.(1867-1869)gGa>gAa	p.G623E	NTRK3_ENST00000360948.2_Missense_Mutation_p.G623E|NTRK3_ENST00000357724.2_Missense_Mutation_p.G615E|NTRK3_ENST00000355254.2_Missense_Mutation_p.G623E|NTRK3_ENST00000557856.1_Missense_Mutation_p.G615E|NTRK3_ENST00000542733.2_Missense_Mutation_p.G525E|NTRK3_ENST00000558676.1_Missense_Mutation_p.G615E	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	623	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)			ATTCAGGTCTCCATGCTTCAT	0.522000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			30	30					0	0	0.008361	0	0
ANXA3	306	broad.mit.edu	37	4	79507487	79507487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:79507487C>T	ENST00000264908.6	+	6	765	c.386C>T	c.(385-387)tCt>tTt	p.S129F	ANXA3_ENST00000512884.1_Missense_Mutation_p.S90F|ANXA3_ENST00000503570.2_Missense_Mutation_p.S90F	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	129					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AAGGATATCTCTCAAGCCTAT	0.383000													12	38					0	0	0.016723	0	0
GPATCH2	55105	broad.mit.edu	37	1	217784256	217784256	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:217784256G>A	ENST00000366935.3	-	4	1103	c.993C>T	c.(991-993)ccC>ccT	p.P331P	GPATCH2_ENST00000366934.3_Silent_p.P331P	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	331						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GTGACATAAGGGGAAAAGAAC	0.438000													11	81					0	0	0.010729	0	0
DNAH5	1767	broad.mit.edu	37	5	13781008	13781008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:13781008C>T	ENST00000265104.4	-	53	8985	c.8881G>A	c.(8881-8883)Gga>Aga	p.G2961R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2961	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCTGCTTTCCTGATCCGCCC	0.468000									Kartagener syndrome				9	21					0	0	0.004482	0	0
PCNXL2	80003	broad.mit.edu	37	1	233275579	233275579	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:233275579G>A	ENST00000258229.8	-	20	3774	c.3540C>T	c.(3538-3540)ttC>ttT	p.F1180F	PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Silent_p.F313F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1180						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)				AGAGTCTTTCGAACCACATTA	0.323000													29	13					0	0	0.015359	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411703	105411703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:105411703G>A	ENST00000333244.5	-	7	10204	c.10085C>T	c.(10084-10086)tCt>tTt	p.S3362F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3362						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)			CAGGTCCACAGAAGGGAGCTG	0.672000													80	103					0	0	0.014410	0	0
GPR162	27239	broad.mit.edu	37	12	6933632	6933632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:6933632G>A	ENST00000311268.3	+	2	1355	c.568G>A	c.(568-570)Gga>Aga	p.G190R	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	190						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GCTACTTGGGGGAATTGTCAT	0.632000													24	98					0	0	0.005443	0	0
COL7A1	1294	broad.mit.edu	37	3	48621382	48621382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:48621382G>A	ENST00000328333.8	-	38	4336	c.4229C>T	c.(4228-4230)cCc>cTc	p.P1410L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1410L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1410	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGTCCAGGGGGACCCTGGGA	0.647000													21	31					0	0	0.012319	0	0
NBPF1	55672	broad.mit.edu	37	1	16893773	16893773	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:16893773G>A	ENST00000430580.2	-	25	3627	c.2740C>T	c.(2740-2742)Cct>Tct	p.P914S	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	914	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TAACCTGAAGGAGTTGAATAA	0.483000													27	1347					0	0	0.020292	0	0
WFDC6	140870	broad.mit.edu	37	20	44168034	44168034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:44168034C>T	ENST00000600168.1	-	1	100	c.13G>A	c.(13-15)Gga>Aga	p.G5R	EPPIN_ENST00000555685.1_Intron|WFDC6_ENST00000372670.3_Missense_Mutation_p.G5R|EPPIN-WFDC6_ENST00000504988.1_Intron					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				GGCAGAAGTCCTGAGAGTCCC	0.532000													52	51					0	0	0.014410	0	0
KRT9	3857	broad.mit.edu	37	17	39726149	39726149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:39726149G>A	ENST00000246662.4	-	3	909	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	KRT9_ENST00000588431.1_Nonsense_Mutation_p.Q49*	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	282	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				AGCTCCTCCTGCAGAGTCTCA	0.552000													58	158					0	0	0.014410	0	0
FAM47C	442444	broad.mit.edu	37	X	37029029	37029029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:37029029C>T	ENST00000358047.3	+	1	2598	c.2546C>T	c.(2545-2547)tCg>tTg	p.S849L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	849										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGACACACATCGAGAAAACTC	0.468000													39	61					0	0	0.008740	0	0
CYP1A2	1544	broad.mit.edu	37	15	75047346	75047346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:75047346G>A	ENST00000343932.4	+	7	1531	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	490					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CGTGAAAGTCGACCTGACCCC	0.602000													25	73					0	0	0.018920	0	0
HIVEP1	3096	broad.mit.edu	37	6	12164380	12164380	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:12164380C>T	ENST00000379388.2	+	9	8175	c.7843C>T	c.(7843-7845)Ctg>Ttg	p.L2615L	HIVEP1_ENST00000541134.1_Silent_p.L480L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2615					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAAAAAAGTTCTGAATCCACC	0.542000													20	52					0	0	0.012319	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:76074470A>G	ENST00000395215.3	+	0	649																		p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000													10	77					0	0	0.010504	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310192	57310192	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:57310192G>A	ENST00000457912.1	+	2	131	c.131G>A	c.(130-132)gGa>gAa	p.G44E	SMTNL1_ENST00000527972.1_Missense_Mutation_p.G26E|SMTNL1_ENST00000399154.2_Missense_Mutation_p.G26E			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	26										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GAGATGTCAGGAGGTGGAGCC	0.582000													12	25					0	0	0.013537	0	0
OR4C13	283092	broad.mit.edu	37	11	49974176	49974176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:49974176G>A	ENST00000555099.1	+	1	234	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTCCTTTATTGATGCCTGCTA	0.438000													55	174					0	0	0.014410	0	0
PSG3	5671	broad.mit.edu	37	19	43233381	43233381	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:43233381G>A	ENST00000327495.5	-	5	1321	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	PSG3_ENST00000595140.1_Silent_p.L379L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	379	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGGGGATAAAGAGCTTTTGTC	0.463000													79	190					0	0	0.014410	0	0
MFN2	9927	broad.mit.edu	37	1	12066609	12066609	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:12066609C>T	ENST00000235329.5	+	16	2053	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	MFN2_ENST00000444836.1_Silent_p.I577I	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	577					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGCGTCCCATCCCTCTGACGC	0.597000													11	51					0	0	0.013537	0	0
LY9	4063	broad.mit.edu	37	1	160769730	160769730	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:160769730G>A	ENST00000263285.5	+	2	342	c.312G>A	c.(310-312)ctG>ctA	p.L104L	LY9_ENST00000368039.2_Silent_p.L104L|LY9_ENST00000368041.2_Silent_p.L64L|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Silent_p.L104L	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	104	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAAGCTACCTGGGCCGACTAG	0.448000													69	67					0	0	0.014410	0	0
COL4A5	1287	broad.mit.edu	37	X	107821309	107821309	+	Splice_Site	SNP	G	G	A	rs104886074		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:107821309G>A	ENST00000328300.6	+	12	891	c.645_splice	c.e12-1	p.G216_splice	COL4A5_ENST00000361603.2_Splice_Site_p.G216_splice	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	216	Triple-helical region.		G -> R (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCTCTCCAGGGGAATATGGGC	0.368000									Alport syndrome with Diffuse Leiomyomatosis				16	16					0	0	0.003163	0	0
OR13C5	138799	broad.mit.edu	37	9	107360783	107360783	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:107360783C>T	ENST00000374779.2	-	1	1005	c.912G>A	c.(910-912)aaG>aaA	p.K304K		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TTACTGCCTCCTTCACATCCT	0.333000													15	42					0	0	0.003163	0	0
C8A	731	broad.mit.edu	37	1	57333298	57333298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:57333298G>A	ENST00000361249.3	+	2	190	c.94G>A	c.(94-96)Gct>Act	p.A32T		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	32					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AAGACGGGCAGCTACACCCGC	0.463000													7	25					0	0	0.001984	0	0
MYO7B	4648	broad.mit.edu	37	2	128327441	128327441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:128327441C>T	ENST00000389524.4	+	6	601	c.548C>T	c.(547-549)tCg>tTg	p.S183L	MYO7B_ENST00000409816.2_Missense_Mutation_p.S183L|MYO7B_ENST00000428314.1_Missense_Mutation_p.S183L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	183	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGCCAGCATTCGTGGATTGAG	0.632000													16	19					0	0	0.003163	0	0
SPTAN1	6709	broad.mit.edu	37	9	131379952	131379952	+	Silent	SNP	C	C	T	rs146418243	by1000genomes	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:131379952C>T	ENST00000372739.3	+	42	5501	c.5391C>T	c.(5389-5391)taC>taT	p.Y1797Y	SPTAN1_ENST00000358161.5_Silent_p.Y1797Y|SPTAN1_ENST00000372731.4_Silent_p.Y1792Y	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1792					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CAGAGGACTACGGCCGGGACC	0.587000													23	49					0	0	0.014323	0	0
HSD17B3	3293	broad.mit.edu	37	9	99013703	99013703	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:99013703G>A	ENST00000375263.3	-	5	497	c.450C>T	c.(448-450)atC>atT	p.I150I	HSD17B3_ENST00000375262.2_Silent_p.I150I	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	150					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	AGTCTACCTGGATTTCATCCG	0.488000													12	20					0	0	0.003163	0	0
TMSB10	9168	broad.mit.edu	37	2	85133146	85133146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:85133146C>T	ENST00000233143.4	+	2	114	c.5C>T	c.(4-6)gCa>gTa	p.A2V		NM_021103.3	NP_066926.1	P63313	TYB10_HUMAN	thymosin beta 10	2					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			endometrium(1)	1						AAGAAAATGGCAGACAAACCA	0.582000													11	37					0	0	0.013537	0	0
SCAND3	114821	broad.mit.edu	37	6	28540378	28540378	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:28540378C>T	ENST00000452236.2	-	4	3905	c.3288G>A	c.(3286-3288)gtG>gtA	p.V1096V		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1096					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ctgtccaattcacatctttaa	0.363000													18	57					0	0	0.004990	0	0
PPFIA4	8497	broad.mit.edu	37	1	203025567	203025567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:203025567C>T	ENST00000367240.2	+	17	2635	c.2108C>T	c.(2107-2109)cCt>cTt	p.P703L	PPFIA4_ENST00000295706.4_Missense_Mutation_p.P218L|PPFIA4_ENST00000272198.6_Missense_Mutation_p.P218L|PPFIA4_ENST00000447715.2_Missense_Mutation_p.P702L|PPFIA4_ENST00000414050.2_Missense_Mutation_p.P431L|PPFIA4_ENST00000599966.1_Missense_Mutation_p.P218L			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	218					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACTTCTCCTCCTTCCTCACCC	0.567000													32	34					0	0	0.013726	0	0
COL21A1	81578	broad.mit.edu	37	6	55932118	55932118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:55932118C>T	ENST00000244728.5	-	23	2499	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	COL21A1_ENST00000370819.1_Missense_Mutation_p.G698E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G101E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.G701E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	701	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACCTTGATTTCCTTTGTCCCC	0.299000													12	32					0	0	0.016723	0	0
CEACAM5	1048	broad.mit.edu	37	19	42231166	42231166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:42231166C>T	ENST00000221992.6	+	9	2153	c.2039C>T	c.(2038-2040)tCt>tTt	p.S680F	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S679F|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S680F	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	680						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)		TCTGGAACTTCTCCTGGTCTC	0.498000													154	324					0	0	0.014410	0	0
CACNA1E	777	broad.mit.edu	37	1	181754921	181754921	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:181754921C>T	ENST00000526775.1	+	42	5860	c.5695C>T	c.(5695-5697)Ctg>Ttg	p.L1899L	CACNA1E_ENST00000357570.5_Silent_p.L1869L|CACNA1E_ENST00000360108.3_Silent_p.L1899L|CACNA1E_ENST00000367573.2_Silent_p.L1918L|CACNA1E_ENST00000367570.1_Silent_p.L1918L|CACNA1E_ENST00000367567.4_Silent_p.L1525L|CACNA1E_ENST00000358338.5_Silent_p.L1850L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1918					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGCCAAAGCCCTGCCTTACCT	0.522000													145	172					0	0	0.014410	0	0
ZNF626	199777	broad.mit.edu	37	19	20808398	20808398	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:20808398G>A	ENST00000601440.1	-	4	431	c.285C>T	c.(283-285)ttC>ttT	p.F95F	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CCACTTTTTGGAAAGAATCTT	0.348000													16	68					0	0	0.006122	0	0
IGFN1	91156	broad.mit.edu	37	1	201195161	201195161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:201195161G>A	ENST00000335211.4	+	22	10826	c.10696G>A	c.(10696-10698)Gaa>Aaa	p.E3566K	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCCGGCCACGAATACCACTT	0.677000													11	40					0	0	0.016723	0	0
FGF12	2257	broad.mit.edu	37	3	191888297	191888297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:191888297C>T	ENST00000454309.2	-	4	1388	c.563G>A	c.(562-564)aGa>aAa	p.R188K	FGF12_ENST00000430714.1_Missense_Mutation_p.R89K|FGF12_ENST00000264730.3_Missense_Mutation_p.R126K|FGF12_ENST00000450716.1_Missense_Mutation_p.R126K|FGF12_ENST00000445105.1_Missense_Mutation_p.R126K	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	188					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTTCTTCACTCTGTTCCCCTT	0.428000													39	108					0	0	0.005524	0	0
RBFOX1	54715	broad.mit.edu	37	16	7743345	7743345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:7743345G>A	ENST00000547372.1	+	15	1459	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000535565.2_Missense_Mutation_p.E299K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.E363K|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E359K			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	51					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TGCAGCAGATGAAATTTCTTG	0.398000													29	33					0	0	0.015359	0	0
CNGA2	1260	broad.mit.edu	37	X	150906982	150906982	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:150906982G>A	ENST00000329903.4	+	1	60	c.27G>A	c.(25-27)aaG>aaA	p.K9K		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	9					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGTGTGAAGAGCTCCCCAG	0.517000													45	81					0	0	0.014410	0	0
PAPPA2	60676	broad.mit.edu	37	1	176675571	176675571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:176675571G>A	ENST00000367662.3	+	10	4606	c.3442G>A	c.(3442-3444)Ggt>Agt	p.G1148S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1148					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTGGAGGAAGGTTTCAACTG	0.418000													8	45					0	0	0.003080	0	0
IPCEF1	26034	broad.mit.edu	37	6	154533966	154533966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:154533966C>T	ENST00000265198.4	-	9	627	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	IPCEF1_ENST00000422970.2_Missense_Mutation_p.E159K|IPCEF1_ENST00000519344.1_Missense_Mutation_p.E130K|IPCEF1_ENST00000519091.1_5'UTR|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Missense_Mutation_p.E159K	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TCTGGATCTTCCTGTTCACTT	0.418000													6	7					0	0	0.001168	0	0
CRIM1	51232	broad.mit.edu	37	2	36744665	36744665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:36744665C>T	ENST00000280527.2	+	12	2553	c.2186C>T	c.(2185-2187)tCc>tTc	p.S729F		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	729	VWFC 4.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				ACCCAGGATTCCTGCTGCCCA	0.612000													18	52					0	0	0.008871	0	0
BOLL	66037	broad.mit.edu	37	2	198636606	198636606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:198636606C>T	ENST00000409845.1	+	3	192	c.187C>T	c.(187-189)Ctc>Ttc	p.L63F	BOLL_ENST00000321801.7_Silent_p.E163E|BOLL_ENST00000430004.1_Silent_p.E151E|BOLL_ENST00000392296.4_Silent_p.E151E|BOLL_ENST00000433157.1_Silent_p.E151E|BOLL_ENST00000282278.8_Silent_p.E42E																							CCGAAGTTACCTCTGGAGTAT	0.338000													11	25					0	0	0.010729	0	0
OR8K3	219473	broad.mit.edu	37	11	56086282	56086282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:56086282C>T	ENST00000312711.1	+	1	500	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTTACTTTATCCTTCTGTGGC	0.373000													23	57					0	0	0.021523	0	0
PLA2G7	7941	broad.mit.edu	37	6	46678293	46678293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:46678293C>T	ENST00000274793.7	-	8	962	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	PLA2G7_ENST00000541026.1_Missense_Mutation_p.E129K|PLA2G7_ENST00000538237.1_Missense_Mutation_p.E211K|PLA2G7_ENST00000537365.1_Missense_Mutation_p.E256K	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	256					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TTCAGTTGTTCCATATCAAAC	0.328000													14	62					0	0	0.016723	0	0
PDGFB	5155	broad.mit.edu	37	22	39627771	39627771	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:39627771G>A	ENST00000331163.6	-	4	1099	c.312C>T	c.(310-312)ttC>ttT	p.F104F	PDGFB_ENST00000381551.4_Silent_p.F89F	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	104					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	GGGAGATCTCGAACACCTCGG	0.647000			T	COL1A1	DFSP								3	15					0	0	0.009096	0	0
ITGA6	3655	broad.mit.edu	37	2	173334104	173334104	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:173334104G>A	ENST00000375221.2	+	4	842	c.639G>A	c.(637-639)tgG>tgA	p.W213*	ITGA6_ENST00000409080.1_Nonsense_Mutation_p.W213*|ITGA6_ENST00000264107.7_Nonsense_Mutation_p.W213*|ITGA6_ENST00000264106.6_Nonsense_Mutation_p.W213*|ITGA6_ENST00000343713.4_Nonsense_Mutation_p.W213*|ITGA6_ENST00000409532.1_Nonsense_Mutation_p.W99*			P23229	ITA6_HUMAN	integrin, alpha 6	213					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CTTATAACTGGAAAGGTATGA	0.358000													19	36					0	0	0.010504	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672787	141672787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:141672787G>A	ENST00000547270.1	-	1	786	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	235					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)					CTGGGGTCACGAGAGTTTCTG	0.498000													26	42					0	0	0.021523	0	0
ADD1	118	broad.mit.edu	37	4	2896428	2896428	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:2896428C>T	ENST00000355842.3	+	7	1574	c.711C>T	c.(709-711)gtC>gtT	p.V237V	ADD1_ENST00000398125.1_Silent_p.V237V|ADD1_ENST00000398123.2_Silent_p.V237V|ADD1_ENST00000264758.7_Silent_p.V237V|ADD1_ENST00000398129.1_Silent_p.V237V|ADD1_ENST00000513328.2_Silent_p.V237V|ADD1_ENST00000503455.2_Silent_p.V237V|ADD1_ENST00000446856.1_Silent_p.V237V			P35611	ADDA_HUMAN	adducin 1 (alpha)	237					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGAAGTGCGTCGTGCACATTC	0.547000													7	24					0	0	0.001984	0	0
PTCHD2	57540	broad.mit.edu	37	1	11576105	11576105	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:11576105C>T	ENST00000294484.6	+	6	1774	c.1636C>T	c.(1636-1638)Cac>Tac	p.H546Y	PTCHD2_ENST00000389575.3_Missense_Mutation_p.H546Y	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	546	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCAGGCCACCCACCTGGAAGA	0.592000													14	27					0	0	0.016723	0	0
BCL9L	283149	broad.mit.edu	37	11	118773104	118773104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:118773104G>A	ENST00000334801.3	-	6	2312	c.1348C>T	c.(1348-1350)Ccc>Tcc	p.P450S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	450	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGCTGGGGGGGAGGGGGGGCT	0.672000													16	12					0	0	0.003163	0	0
NXF3	56000	broad.mit.edu	37	X	102334395	102334395	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:102334395C>T	ENST00000395065.3	-	15	1328	c.1227G>A	c.(1225-1227)cgG>cgA	p.R409R	NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000425644.1_Silent_p.R81R	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	409	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GCAGCTCCCCCCGAAGGTCTG	0.542000													41	50					0	0	0.006999	0	0
MMP20	9313	broad.mit.edu	37	11	102480670	102480670	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:102480670G>A	ENST00000260228.2	-	4	627	c.615C>T	c.(613-615)ttC>ttT	p.F205F	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	205					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CAGCATTGTCGAAATGTGTAT	0.473000													14	55					0	0	0.007413	0	0
NSUN6	221078	broad.mit.edu	37	10	18837064	18837064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:18837064G>A	ENST00000377304.4	-	10	1592	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S	NSUN6_ENST00000493816.1_5'UTR	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	392							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGAAGGCAAGGAAATTTTGTC	0.453000													5	14					0	0	0.001168	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42373300	42373300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:42373300C>T	ENST00000290472.3	-	12	1083	c.989G>A	c.(988-990)gGa>gAa	p.G330E		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	330	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCGGGCACCTCCTCCTGTGGC	0.602000													21	45					0	0	0.010504	0	0
ZNF831	128611	broad.mit.edu	37	20	57768949	57768949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:57768949G>A	ENST00000371030.2	+	1	2875	c.2875G>A	c.(2875-2877)Gga>Aga	p.G959R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	959						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CATTCCCTGGGGACCAAGGCA	0.592000													24	93					0	0	0.006320	0	0
UNC5D	137970	broad.mit.edu	37	8	35453116	35453116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:35453116C>T	ENST00000287272.2	+	4	531	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	UNC5D_ENST00000416672.1_Missense_Mutation_p.P171S|UNC5D_ENST00000420357.1_Missense_Mutation_p.P171S|UNC5D_ENST00000404895.2_Missense_Mutation_p.P171S|UNC5D_ENST00000453357.2_Missense_Mutation_p.P166S			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	171	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAGGGAAGTTCCCATTGAAGG	0.493000													31	97					0	0	0.017118	0	0
UBR4	23352	broad.mit.edu	37	1	19439325	19439325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:19439325C>T	ENST00000375267.2	-	78	11497	c.11494G>A	c.(11494-11496)Gac>Aac	p.D3832N	UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375254.3_Missense_Mutation_p.D3832N|UBR4_ENST00000375217.2_Missense_Mutation_p.D3825N|UBR4_ENST00000375226.2_Missense_Mutation_p.D3808N			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3832					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGCTGTAGGTCATATTCCAAC	0.463000													93	211					0	0	0.014410	0	0
GSAP	54103	broad.mit.edu	37	7	77010632	77010632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:77010632C>T	ENST00000257626.7	-	8	644	c.566G>A	c.(565-567)gGa>gAa	p.G189E		NM_017439.3	NP_059135.2			gamma-secretase activating protein									p.G189V(1)									CACTCTATTTCCATCTTCTTG	0.284000													13	27					0	0	0.004007	0	0
CACNA1C	775	broad.mit.edu	37	12	2690876	2690876	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:2690876C>T	ENST00000399655.1	+	14	2281	c.2016C>T	c.(2014-2016)ctC>ctT	p.L672L	CACNA1C_ENST00000406454.3_Silent_p.L672L|CACNA1C_ENST00000399637.1_Silent_p.L672L|CACNA1C_ENST00000344100.3_Silent_p.L672L|CACNA1C_ENST00000347598.4_Silent_p.L672L|CACNA1C_ENST00000399603.1_Silent_p.L672L|CACNA1C_ENST00000399597.1_Silent_p.L672L|CACNA1C_ENST00000399601.1_Silent_p.L672L|CACNA1C_ENST00000327702.7_Silent_p.L672L|CACNA1C_ENST00000399606.1_Silent_p.L672L|CACNA1C_ENST00000399649.1_Silent_p.L672L|CACNA1C_ENST00000399621.1_Silent_p.L672L|CACNA1C_ENST00000399629.1_Silent_p.L672L|CACNA1C_ENST00000399634.1_Silent_p.L672L|CACNA1C_ENST00000399641.1_Silent_p.L672L|CACNA1C_ENST00000480911.1_Silent_p.L672L|CACNA1C_ENST00000402845.3_Silent_p.L672L|CACNA1C_ENST00000399595.1_Silent_p.L672L|CACNA1C_ENST00000335762.5_Silent_p.L697L|CACNA1C_ENST00000399638.1_Silent_p.L672L|CACNA1C_ENST00000399644.1_Silent_p.L672L|CACNA1C_ENST00000399591.1_Silent_p.L672L|CACNA1C_ENST00000399617.1_Silent_p.L672L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	672					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGATGCAGCTCTTTGGAGGAA	0.532000													18	25					0	0	0.007413	0	0
SGCG	6445	broad.mit.edu	37	13	23808834	23808834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:23808834G>A	ENST00000218867.3	+	3	404	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	SGCG_ENST00000537476.1_Missense_Mutation_p.E94K|SGCG_ENST00000545013.1_Missense_Mutation_p.E94K	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	94					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GTATGCCAAAGAAATACACTC	0.333000													22	60					0	0	0.016522	0	0
ZNF569	148266	broad.mit.edu	37	19	37904182	37904182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:37904182G>A	ENST00000316950.6	-	6	1935	c.1378C>T	c.(1378-1380)Cat>Tat	p.H460Y	ZNF569_ENST00000392149.2_Missense_Mutation_p.H460Y|ZNF569_ENST00000392150.2_Missense_Mutation_p.H301Y	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCCCAGTATGAATTCTCTGG	0.358000													12	27					0	0	0.010729	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													7	62					0	0	0.004482	0	0
ATP13A4	84239	broad.mit.edu	37	3	193232524	193232524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:193232524G>A	ENST00000342695.4	-	2	519	c.197C>T	c.(196-198)tCc>tTc	p.S66F	ATP13A4_ENST00000392443.3_Missense_Mutation_p.S66F|ATP13A4_ENST00000295548.3_Missense_Mutation_p.S66F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	66					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTCTTGCAAGGAACATGGGAC	0.512000													36	105					0	0	0.005524	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008216	32008216	+	Missense_Mutation	SNP	G	G	A	rs150804717		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:32008216G>A	ENST00000418967.2	+	8	1131	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	CYP21A2_ENST00000435122.2_Missense_Mutation_p.E295K	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	324					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						GCTAGACCACGAACTGGGCCC	0.682000													57	268					0	0	0.014410	0	0
KMT2C	58508	broad.mit.edu	37	7	151841956	151841956	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:151841956A>C	ENST00000355193.2	-	56	14574	c.14356T>G	c.(14356-14358)Tta>Gta	p.L4786V	KMT2C_ENST00000262189.6_Missense_Mutation_p.L4729V					lysine (K)-specific methyltransferase 2C																		GTGCTGTTTAAGGTGTGAGGC	0.423000													10	27					0	0	0.008291	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296092	233296092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:233296092G>A	ENST00000258229.8	-	19	3688	c.3454C>T	c.(3454-3456)Ccc>Tcc	p.P1152S	PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Missense_Mutation_p.P285S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1152						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)				CACATCCAGGGATGATGCTTG	0.433000													15	84					0	0	0.004007	0	0
BPGM	669	broad.mit.edu	37	7	134346748	134346748	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:134346748G>A	ENST00000393132.2	+	3	978	c.489G>A	c.(487-489)gaG>gaA	p.E163E	BPGM_ENST00000418040.1_Silent_p.E163E|BPGM_ENST00000344924.3_Silent_p.E163E	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	163					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						ATGTTCTGGAGAGACTCCTTC	0.453000													16	56					0	0	0.004990	0	0
CHAD	1101	broad.mit.edu	37	17	48546023	48546023	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:48546023T>A	ENST00000508540.1	-	1	304	c.152A>T	c.(151-153)gAg>gTg	p.E51V	ACSF2_ENST00000506085.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.E51V|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000502667.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	51	LRRNT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CTTGGTCTTCTCTGACACCTT	0.627000													7	27					0	0	0.003080	0	0
MYO3B	140469	broad.mit.edu	37	2	171371487	171371487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:171371487G>A	ENST00000334231.6	+	29	3454	c.3454G>A	c.(3454-3456)Gga>Aga	p.G1152R	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.G1143R|MYO3B_ENST00000409044.3_Missense_Mutation_p.G1116R			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1143					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP 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						AGGTACGAGGGGAAGTGCCGA	0.502000													16	38					0	0	0.006122	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994858	143994858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:143994858G>A	ENST00000323110.2	-	6	966	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	322					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.P322T(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	ATCAGCAAGGGAAACGCTGTC	0.632000									Familial Hyperaldosteronism type I				22	63					0	0	0.016522	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795706	69795706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:69795706C>T	ENST00000251566.4	-	6	1439	c.1409G>A	c.(1408-1410)gGa>gAa	p.G470E	UGT2A3_ENST00000420231.2_Missense_Mutation_p.G181E	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	470						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGCTTGGCTCCTTTGTGGCG	0.488000													26	80					0	0	0.006320	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35129946	35129946	+	RNA	SNP	A	A	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:35129946A>T	ENST00000436258.1	-	0	3423																											TTCTCACAACACACCATGCCT	0.323000													33	102					0	0	0.019004	0	0
BAIAP2	10458	broad.mit.edu	37	17	79077448	79077448	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:79077448C>T	ENST00000321300.6	+	8	882	c.789C>T	c.(787-789)tcC>tcT	p.S263S	BAIAP2_ENST00000416299.2_Silent_p.S126S|BAIAP2_ENST00000428708.2_Silent_p.S263S|BAIAP2_ENST00000575245.1_Silent_p.S296S|BAIAP2_ENST00000435091.3_Silent_p.S263S|BAIAP2_ENST00000321280.7_Silent_p.S263S|BAIAP2_ENST00000392411.3_Silent_p.S185S|BAIAP2_ENST00000575712.1_Silent_p.S263S	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	263					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCTCCAAGTCCAACCTGGTCA	0.697000													11	37					0	0	0.013537	0	0
NAT2	10	broad.mit.edu	37	8	18257576	18257576	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:18257576G>A	ENST00000286479.3	+	2	170	c.63G>A	c.(61-63)ttG>ttA	p.L21L	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	21					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	p.L21F(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		AATTGGACTTGGAAACATTAA	0.398000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				39	83					0	0	0.021022	0	0
ALG3	10195	broad.mit.edu	37	3	183962422	183962422	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:183962422G>A	ENST00000455059.1	-	5	1027	c.573C>T	c.(571-573)gcC>gcT	p.A191A	ALG3_ENST00000418734.2_Silent_p.A175A|ALG3_ENST00000397676.3_Silent_p.A231A|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Silent_p.A183A			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	231					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTTGGGGAGGGCCCCACGGA	0.552000													5	14					0	0	0.001168	0	0
OR13C9	286362	broad.mit.edu	37	9	107379675	107379675	+	Missense_Mutation	SNP	C	C	T	rs143297558		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:107379675C>T	ENST00000259362.1	-	1	810	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TCCAAGTCATCTGAATTAAGT	0.398000													29	76					0	0	0.009535	0	0
MFSD1	64747	broad.mit.edu	37	3	158539803	158539803	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:158539803C>T	ENST00000415822.2	+	11	1239	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	MFSD1_ENST00000392813.4_Silent_p.S327S|MFSD1_ENST00000264266.8_Silent_p.S317S	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	317					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTCCCATGTCCCCGGTGTTTG	0.458000													23	41					0	0	0.021523	0	0
OSMR	9180	broad.mit.edu	37	5	38881857	38881857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:38881857G>A	ENST00000274276.3	+	4	811	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	OSMR_ENST00000502536.1_Missense_Mutation_p.E137K	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	137					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTCCTGGGAGGAAGTCAGTGG	0.418000													30	82					0	0	0.019004	0	0
CPED1	79974	broad.mit.edu	37	7	120768439	120768439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:120768439G>A	ENST00000310396.5	+	11	1773	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	CPED1_ENST00000423795.1_Missense_Mutation_p.E216K|CPED1_ENST00000450913.2_Missense_Mutation_p.E436K	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AATACAGGGTGAAAACTATCA	0.358000													25	48					0	0	0.004656	0	0
CYBA	1535	broad.mit.edu	37	16	88713214	88713214	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:88713214A>T	ENST00000569359.1	-	4	252	c.236T>A	c.(235-237)cTg>cAg	p.L79Q	CYBA_ENST00000567174.1_Missense_Mutation_p.L79Q|CYBA_ENST00000261623.3_Missense_Mutation_p.L79Q			P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	79					cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGGCCCGAACAGCTTCACCAC	0.652000													23	49					0	0	0.021523	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915878	39915878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:39915878G>A	ENST00000425673.1	+	17	4343	c.4018G>A	c.(4018-4020)Gaa>Aaa	p.E1340K	PLEKHG2_ENST00000409794.3_Missense_Mutation_p.E1369K|PLEKHG2_ENST00000378550.1_Splice_Site_p.E560_splice|PLEKHG2_ENST00000458508.2_Splice_Site_p.R1191_splice|PLEKHG2_ENST00000409797.2_Splice_Site_p.E560_splice			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1369					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCCACACAGGAATCTATGGG	0.632000													12	34					0	0	0.013537	0	0
ACTR1B	10120	broad.mit.edu	37	2	98275374	98275374	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:98275374G>A	ENST00000289228.5	-	5	624	c.408C>T	c.(406-408)gcC>gcT	p.A136A		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	136						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						AGATGAACAGGGCCGGCACGT	0.617000													31	75					0	0	0.010818	0	0
SREBF2	6721	broad.mit.edu	37	22	42269900	42269900	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:42269900G>T	ENST00000361204.4	+	5	1132	c.966G>T	c.(964-966)caG>caT	p.Q322H		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	322	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GAGTCAAGCAGCTTGAGCCCC	0.498000													18	23					1.99824e-07	2.20109e-07	0.004990	1	0
AKR1C4	1109	broad.mit.edu	37	10	5254973	5254973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:5254973C>T	ENST00000380448.1	+	9	950	c.697C>T	c.(697-699)Cca>Tca	p.P233S	AKR1C4_ENST00000263126.1_Missense_Mutation_p.P233S			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	233					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	CCCAAACTCCCCAGTTCTTTT	0.512000													12	26					0	0	0.016723	0	0
TMEM104	54868	broad.mit.edu	37	17	72832478	72832478	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:72832478G>A	ENST00000335464.5	+	10	1305	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Silent_p.K381K	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	381						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ACAACTGGAAGACACTCTTCC	0.637000													54	85					0	0	0.014410	0	0
DENND1A	57706	broad.mit.edu	37	9	126371733	126371733	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:126371733G>A	ENST00000373624.2	-	11	948	c.747C>T	c.(745-747)atC>atT	p.I249I	DENND1A_ENST00000373620.3_Silent_p.I249I|DENND1A_ENST00000373618.1_Silent_p.I217I|DENND1A_ENST00000394219.3_Silent_p.I217I|DENND1A_ENST00000394215.2_Silent_p.I219I|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Silent_p.I33I	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	249	DENN.					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						AACTTAAATGGATTCCTATGA	0.473000													9	38					0	0	0.010729	0	0
VPS35	55737	broad.mit.edu	37	16	46708511	46708511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:46708511C>T	ENST00000299138.7	-	9	1034	c.976G>A	c.(976-978)Gat>Aat	p.D326N	VPS35_ENST00000568642.1_5'UTR	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	326					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)				GAAAATATATCAAAAAGTTTA	0.348000													4	16					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9005651	9005651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:9005651C>T	ENST00000397910.4	-	46	39958	c.39755G>A	c.(39754-39756)aGa>aAa	p.R13252K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13254	SEA 8.				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						TAGCTGCTGTCTGTCTAGCCC	0.592000													27	92					0	0	0.007291	0	0
APOB	338	broad.mit.edu	37	2	21235180	21235180	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:21235180C>T	ENST00000233242.1	-	26	4687	c.4560G>A	c.(4558-4560)ctG>ctA	p.L1520L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1520					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)	AGTTAAACCTCAGGTTGGACT	0.507000													129	340					0	0	0.014410	0	0
CETN1	1068	broad.mit.edu	37	18	580850	580850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:580850G>A	ENST00000327228.3	+	1	484	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	148	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	p.E148K(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GATGATCGACGAAGCTGATCG	0.537000													20	35					0	0	0.010504	0	0
MAP3K19	80122	broad.mit.edu	37	2	135743584	135743584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:135743584G>A	ENST00000375845.3	-	7	2888	c.2858C>T	c.(2857-2859)tCc>tTc	p.S953F	MAP3K19_ENST00000358371.4_Missense_Mutation_p.S840F|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S970F|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		AATTTCTTGGGAAATTGAATT	0.308000													13	24					0	0	0.020292	0	0
SSX6	280657	broad.mit.edu	37	X	47978993	47978993	+	Missense_Mutation	SNP	G	G	A	rs77470044	byFrequency	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:47978993G>A	ENST00000319275.3	+	7	616	c.250G>A	c.(250-252)Gac>Aac	p.D84N	SSX6_ENST00000376932.2_Missense_Mutation_p.D182N																large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						AGAGATCAGCGACCCTGAGGA	0.498000													155	167					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	8993392	8993392	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:8993392C>T	ENST00000397910.4	-	66	41900	c.41697G>A	c.(41695-41697)agG>agA	p.R13899R	MUC16_ENST00000380951.5_Silent_p.R540R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13902	SEA 12.			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						AGAGACTGTCCCTGTCCAGTG	0.562000													50	133					0	0	0.014410	0	0
COL5A2	1290	broad.mit.edu	37	2	189929782	189929782	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:189929782C>T	ENST00000374866.3	-	24	1839	c.1563_splice	c.e24-1	p.G522_splice		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	522					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCCAGGAGCACCCTACAAATG	0.403000													6	18					0	0	0.001984	0	0
CEACAM16	388551	broad.mit.edu	37	19	45208946	45208946	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:45208946C>T	ENST00000587331.1	+	5	963	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.L250L	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	250										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GTCCCTCACCCTGTGGTGCGT	0.602000													141	300					0	0	0.014410	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558700	113558700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:113558700C>T	ENST00000284601.3	-	1	420	c.352G>A	c.(352-354)Gat>Aat	p.D118N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	118					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGCATAAGATCTTCTTTTGAA	0.393000													15	36					0	0	0.003163	0	0
CLTCL1	8218	broad.mit.edu	37	22	19184075	19184075	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:19184075G>A	ENST00000263200.10	-	25	4038	c.3966C>T	c.(3964-3966)atC>atT	p.I1322I	CLTCL1_ENST00000427926.1_Silent_p.I1322I|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Silent_p.I1322I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1322	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TGGAGTAGAGGATGGCCAGCT	0.557000			T	?	ALCL								8	14					0	0	0.004482	0	0
C1orf168	199920	broad.mit.edu	37	1	57257889	57257889	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:57257889G>A	ENST00000343433.6	-	2	677	c.597C>T	c.(595-597)caC>caT	p.H199H	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	199										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGGCCACCACGTGCTTCTGGG	0.478000													42	102					0	0	0.011902	0	0
SLC12A4	6560	broad.mit.edu	37	16	67991822	67991822	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:67991822G>A	ENST00000422611.2	-	3	513	c.474C>T	c.(472-474)atC>atT	p.I158I	SLC12A4_ENST00000537830.2_Silent_p.I150I|SLC12A4_ENST00000576616.1_Silent_p.I156I|SLC12A4_ENST00000316341.3_Silent_p.I156I|SLC12A4_ENST00000338335.3_Silent_p.I156I|SLC12A4_ENST00000541864.2_Silent_p.I125I|SLC12A4_ENST00000572037.1_Silent_p.I108I|SLC12A4_ENST00000572010.1_5'UTR	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	156					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGATAAGCACGATGAGGAGGG	0.632000													11	38					0	0	0.008291	0	0
LIFR	3977	broad.mit.edu	37	5	38490385	38490385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:38490385G>A	ENST00000263409.4	-	15	2236	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*	LIFR_ENST00000453190.2_Nonsense_Mutation_p.R692*	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	692	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATACCTGGTCGAAACTCATCT	0.279000			T	PLAG1	salivary adenoma								24	65					0	0	0.004656	0	0
IL10RB	3588	broad.mit.edu	37	21	34668535	34668535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:34668535C>T	ENST00000290200.2	+	7	959	c.851C>T	c.(850-852)cCa>cTa	p.P284L		NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TTCTCCTTTCCATTGTCGGAT	0.448000													32	115					0	0	0.009535	0	0
SLC22A20	440044	broad.mit.edu	37	11	64985156	64985156	+	RNA	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:64985156C>T	ENST00000525437.1	+	0	669							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						ACTCCGTCTCCCTGGTGAGTC	0.652000													11	21					0	0	0.016723	0	0
FCRL4	83417	broad.mit.edu	37	1	157556241	157556241	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:157556241G>A	ENST00000271532.1	-	6	987	c.852C>T	c.(850-852)atC>atT	p.I284I	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	284	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CAGACACAGGGATCCCTATGT	0.602000													43	55					0	0	0.010771	0	0
SIRPB1	10326	broad.mit.edu	37	20	1592245	1592245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:1592245G>A	ENST00000279477.7	-	2	255	c.191C>T	c.(190-192)cCc>cTc	p.P64L	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.P64L|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	64	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCACTGGATGGGCCCCACAGG	0.537000													16	59					0	0	0.004990	0	0
NLRC5	84166	broad.mit.edu	37	16	57093400	57093400	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:57093400C>T	ENST00000436936.1	+	30	4167	c.3942C>T	c.(3940-3942)ttC>ttT	p.F1314F	NLRC5_ENST00000262510.6_Silent_p.F1314F|NLRC5_ENST00000308149.7_Silent_p.F1285F|NLRC5_ENST00000539144.1_Silent_p.F1285F			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1314					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGCAGAGCTTCCGGATTCACT	0.622000													4	19					0	0	0.009096	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515097	233515097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:233515097C>T	ENST00000366624.3	+	9	2606	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	MLK4_ENST00000366622.1_Missense_Mutation_p.S228F	NM_032435.2	NP_115811.2																					AGCCTGCCATCCACCTGTGGG	0.597000													26	121					0	0	0.006320	0	0
LOC644669	644669	broad.mit.edu	37	18	15323347	15323347	+	RNA	SNP	T	T	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:15323347T>C	ENST00000455308.2	-	0	501					NR_027417.1																						CCAATAAAAGTGGTGTGTGGC	0.303000													3	9					0	0	0.009096	0	0
CTU2	348180	broad.mit.edu	37	16	88780099	88780099	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:88780099C>T	ENST00000567949.1	+	9	1140	c.1131C>T	c.(1129-1131)ccC>ccT	p.P377P	CTU2_ENST00000312060.5_Silent_p.P306P|CTU2_ENST00000453996.2_Silent_p.P306P|CTU2_ENST00000378384.3_Silent_p.P219P			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	306					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						TGGTGCGGCCCATGCGGGACC	0.647000													27	70					0	0	0.004656	0	0
INPP5D	3635	broad.mit.edu	37	2	234078703	234078703	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:234078703T>C	ENST00000359570.5	+	17	1648	c.1648T>C	c.(1648-1650)Ttc>Ctc	p.F550L	INPP5D_ENST00000455936.2_Missense_Mutation_p.F314L|INPP5D_ENST00000450745.1_Missense_Mutation_p.F314L|INPP5D_ENST00000538935.1_Missense_Mutation_p.F549L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	562					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CATTCTCCGGTTCCTGGCCCT	0.532000													37	109					0	0	0.010771	0	0
ENAM	10117	broad.mit.edu	37	4	71508384	71508384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:71508384G>A	ENST00000396073.3	+	9	1522	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	414					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CACCCTGTAGGAACTACTGTT	0.458000													33	58					0	0	0.010818	0	0
OR52B4	143496	broad.mit.edu	37	11	4389432	4389432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:4389432G>A	ENST00000408920.2	-	1	184	c.94C>T	c.(94-96)Cca>Tca	p.P32S		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGAAGAATGGGATAGAAATC	0.517000													12	17					0	0	0.020292	0	0
PCSK5	5125	broad.mit.edu	37	9	78911597	78911597	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:78911597G>A	ENST00000545128.1	+	27	3877	c.3339G>A	c.(3337-3339)agG>agA	p.R1113R		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	816					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTTGTGTGAGGAAATGTGGTC	0.488000													15	23					0	0	0.004990	0	0
KIAA0319	9856	broad.mit.edu	37	6	24556956	24556956	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:24556956A>G	ENST00000535378.1	-	19	3351	c.2707_splice	c.e19-1	p.G903_splice	KIAA0319_ENST00000543707.1_Splice_Site_p.G912_splice|KIAA0319_ENST00000378214.3_Splice_Site_p.G912_splice|KIAA0319_ENST00000430948.2_Splice_Site_p.G867_splice|KIAA0319_ENST00000537886.1_Splice_Site_p.G912_splice	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	912					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCAGAAGGCAACCTGCAAAGA	0.478000													8	45					0	0	0.004482	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001430	52001430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:52001430C>T	ENST00000291707.3	-	5	1302	c.1247G>A	c.(1246-1248)gGg>gAg	p.G416E	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G298E	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	416	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGTCAGGCTCCCCCAGGTCCA	0.622000													19	52					0	0	0.008871	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204197305	204197305	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:204197305C>T	ENST00000272203.3	-	21	3253	c.2937G>A	c.(2935-2937)caG>caA	p.Q979Q	PLEKHA6_ENST00000414478.1_Silent_p.Q999Q	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	979										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCTCTGAGTCCTGGGGCACGT	0.627000													20	83					0	0	0.014323	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698526	103698526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:103698526G>A	ENST00000245312.3	-	6	1600	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	335					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTATAAAACGATGACTCTGG	0.373000													22	33					0	0	0.018920	0	0
MYO16	23026	broad.mit.edu	37	13	109707473	109707473	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr13:109707473G>A	ENST00000356711.2	+	26	3188	c.3063_splice	c.e26+1	p.R1021_splice	MYO16_ENST00000457511.2_Splice_Site_p.R533_splice|MYO16_ENST00000357550.2_Splice_Site_p.R1021_splice	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1021	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCACAACTCAGGGTTAGTGAC	0.303000													17	29					0	0	0.008871	0	0
MUC13	56667	broad.mit.edu	37	3	124641140	124641140	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:124641140G>A	ENST00000311075.3	-	4	683	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	215	SEA.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TCTTCCCAGGGAATACCTTTC	0.338000													15	26					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9064452	9064452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:9064452G>A	ENST00000397910.4	-	3	23197	c.22994C>T	c.(22993-22995)tCc>tTc	p.S7665F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7667	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGCCCATGGAAGTGGTCAT	0.522000													13	30					0	0	0.013537	0	0
WNK2	65268	broad.mit.edu	37	9	96031005	96031005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:96031005C>T	ENST00000297954.4	+	18	4010	c.4010C>T	c.(4009-4011)tCc>tTc	p.S1337F	WNK2_ENST00000349097.3_Missense_Mutation_p.S949F|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.S949F|WNK2_ENST00000395477.2_Missense_Mutation_p.S1337F|WNK2_ENST00000395475.2_3'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1337					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTCTAAGCTCCCTGCCGCCA	0.627000													9	22					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179444756	179444756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:179444756C>T	ENST00000589042.1	-	318	67482	c.67258G>A	c.(67258-67260)Gag>Aag	p.E22420K	TTN_ENST00000460472.2_Missense_Mutation_p.E13355K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13547K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13480K|TTN_ENST00000342992.6_Missense_Mutation_p.E19852K|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E20779K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20779	Ig-like 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTTTCCCTCCTCCAAATTA	0.438000													47	99					0	0	0.014410	0	0
CLCN1	1180	broad.mit.edu	37	7	143028368	143028368	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:143028368C>T	ENST00000343257.2	+	9	1110	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	341					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GAATGGATTTCCCCTTTGACC	0.507000													25	86					0	0	0.007291	0	0
TRIM49	57093	broad.mit.edu	37	11	89531591	89531591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:89531591C>T	ENST00000329758.1	-	8	1394	c.1066G>A	c.(1066-1068)Ggt>Agt	p.G356S	TRIM49_ENST00000532501.2_Missense_Mutation_p.G279S	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	356	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTACAGACACCAAAAGCCCAA	0.438000													22	85					0	0	0.005443	0	0
NT5C3A	51251	broad.mit.edu	37	7	33063712	33063712	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:33063712C>T	ENST00000396152.2	-	4	446	c.144G>A	c.(142-144)acG>acA	p.T48T	AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000242210.7_Silent_p.T87T|NT5C3A_ENST00000409467.1_Silent_p.T36T|NT5C3A_ENST00000405342.1_Silent_p.T48T|NT5C3A_ENST00000381626.2_Silent_p.T36T|NT5C3A_ENST00000409787.1_Silent_p.T48T	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA																		TATCAAAGTCCGTTATTATCT	0.348000													5	16					0	0	0.014758	0	0
PEG10	23089	broad.mit.edu	37	7	94293524	94293524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:94293524C>T	ENST00000482108.1	+	2	1135	c.656C>T	c.(655-657)tCc>tTc	p.S219F	PEG10_ENST00000488574.1_Missense_Mutation_p.S219F	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	219	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGGAGCTCTCCCACCTCGAG	0.592000													35	76					0	0	0.006230	0	0
UNC79	57578	broad.mit.edu	37	14	94173080	94173080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:94173080C>T	ENST00000553484.1	+	51	7958	c.7804C>T	c.(7804-7806)Cag>Tag	p.Q2602*	UNC79_ENST00000393151.2_Nonsense_Mutation_p.Q2580*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.Q2403*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.Q2541*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2580						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTTCGCCTCCAGGCTATTCA	0.587000													23	35					0	0	0.021523	0	0
MNDA	4332	broad.mit.edu	37	1	158815488	158815488	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:158815488C>G	ENST00000368141.4	+	5	943	c.682C>G	c.(682-684)Cca>Gca	p.P228A		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	228	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					ATACGAGTCCCCAGAAAATGG	0.448000													21	28					0	0	0.016522	0	0
ATAD2B	54454	broad.mit.edu	37	2	24021187	24021187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:24021187G>A	ENST00000238789.5	-	19	2804	c.2461C>T	c.(2461-2463)Cgt>Tgt	p.R821C	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	821							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGAGCTTCACGAAAAATCTAA	0.363000													10	20					0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	8999468	8999468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:8999468C>T	ENST00000397910.4	-	56	40910	c.40707G>A	c.(40705-40707)tgG>tgA	p.W13569*	MUC16_ENST00000380951.5_Nonsense_Mutation_p.W210*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13571	SEA 10.			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						GGCTCAGCTCCCAGTATAGCT	0.577000													62	186					0	0	0.014410	0	0
DSC3	1825	broad.mit.edu	37	18	28605749	28605749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr18:28605749G>A	ENST00000434452.1	-	5	761	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	DSC3_ENST00000360428.4_Missense_Mutation_p.R203C	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	203	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.R203C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TATTCTTCACGATCCACAGGC	0.338000													13	34					0	0	0.020292	0	0
UGT2B4	7363	broad.mit.edu	37	4	70360938	70360938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:70360938C>T	ENST00000305107.6	-	1	688	c.642G>A	c.(640-642)atG>atA	p.M214I	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.M214I|UGT2B4_ENST00000381096.3_Missense_Mutation_p.M78I	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	214					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						GCACATAGATCATATTTTTTA	0.358000													14	34					0	0	0.016723	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535728	124535728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr9:124535728C>T	ENST00000408936.3	+	12	3103	c.2921C>T	c.(2920-2922)tCc>tTc	p.S974F	DAB2IP_ENST00000309989.1_Missense_Mutation_p.S850F|DAB2IP_ENST00000259371.2_Missense_Mutation_p.S946F			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	974					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TCCTCTTCCTCCAAGGGGGAC	0.657000													7	9					0	0	0.003080	0	0
KLHL4	56062	broad.mit.edu	37	X	86887333	86887333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:86887333G>A	ENST00000373119.4	+	7	1593	c.1448G>A	c.(1447-1449)gGa>gAa	p.G483E	KLHL4_ENST00000373114.4_Missense_Mutation_p.G483E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	483						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						GTCGTGGGAGGAAGAGACGGT	0.448000													14	17					0	0	0.016723	0	0
SLFN13	146857	broad.mit.edu	37	17	33770934	33770934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:33770934G>A	ENST00000285013.6	-	4	1347	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	SLFN13_ENST00000360502.2_Missense_Mutation_p.P40S|SLFN13_ENST00000533791.1_Missense_Mutation_p.P358S|SLFN13_ENST00000542635.1_Missense_Mutation_p.P358S|SLFN13_ENST00000534689.1_Missense_Mutation_p.P40S|SLFN13_ENST00000526861.1_Missense_Mutation_p.P358S	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	358						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGTCTGGAGGAAACTCTGAA	0.393000													17	22					0	0	0.004990	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769189	15769189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:15769189G>A	ENST00000221307.7	+	10	1279	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	CYP4F3_ENST00000591058.1_Missense_Mutation_p.G411S|CYP4F3_ENST00000585846.1_Missense_Mutation_p.G411S|CYP4F3_ENST00000586182.1_Missense_Mutation_p.G411S	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	411					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCTCCCAGACGGCCGGGTCAT	0.642000													23	55					0	0	0.012319	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088187	17088187	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:17088187G>A	ENST00000443236.1	-	15	1921	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	583						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTGGTTTTCGAAGAAGGTCT	0.612000													38	56					0	0	0.006230	0	0
MEP1A	4224	broad.mit.edu	37	6	46806867	46806867	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:46806867G>A	ENST00000230588.4	+	14	2244	c.2235G>A	c.(2233-2235)agG>agA	p.R745R		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	745					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AAAGGCCAAGGAAGTGACCTG	0.557000													18	49					0	0	0.007413	0	0
INPP5B	3633	broad.mit.edu	37	1	38343860	38343860	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:38343860C>T	ENST00000373023.2	-	16	2010	c.1917_splice	c.e16+1	p.G639_splice	INPP5B_ENST00000373026.1_Splice_Site_p.G639_splice|INPP5B_ENST00000373024.3_Splice_Site_p.G559_splice|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373027.1_Splice_Site_p.G395_splice	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	639					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGCCACCTACCCCGATGTCAA	0.483000													16	67					0	0	0.003163	0	0
OR51F2	119694	broad.mit.edu	37	11	4842792	4842792	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:4842792C>T	ENST00000322110.5	+	1	242	c.177C>T	c.(175-177)atC>atT	p.I59I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	59					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)		ATAGCATGATCCTGTTTGTGG	0.488000													62	127					0	0	0.014410	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962911	69962911	+	Missense_Mutation	SNP	G	G	A	rs146308452	byFrequency	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:69962911G>A	ENST00000305231.7	+	1	719	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	UGT2B7_ENST00000508661.1_Missense_Mutation_p.E225K|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	225					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E225K(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTTTGGTTCGAAATATTTGA	0.318000													23	45					0	0	0.012319	0	0
FLNB	2317	broad.mit.edu	37	3	58139289	58139289	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:58139289G>A	ENST00000295956.4	+	39	6720	c.6555G>A	c.(6553-6555)gtG>gtA	p.V2185V	FLNB_ENST00000490882.1_Silent_p.V2216V|FLNB_ENST00000493452.1_Silent_p.V1992V|FLNB_ENST00000429972.2_Silent_p.V2174V|FLNB_ENST00000419752.2_Silent_p.V2005V|FLNB_ENST00000358537.3_Silent_p.V2161V|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Silent_p.V2144V	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2185	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGTTCACCGTGGGGCCACTTG	0.662000													28	28					0	0	0.005443	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22280083	22280083	+	RNA	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:22280083C>T	ENST00000390431.3	+	0	272																											GAAACCACTTCTTTCCACTTG	0.498000													17	32					0	0	0.004990	0	0
EMR1	2015	broad.mit.edu	37	19	6901952	6901952	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:6901952A>G	ENST00000312053.4	+	6	618	c.581A>G	c.(580-582)aAc>aGc	p.N194S	EMR1_ENST00000381404.4_Missense_Mutation_p.N142S|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.N194S|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000601198.1_3'UTR	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	194	EGF-like 4; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACTGTTGGAAACTACTCTTGT	0.483000													70	201					0	0	0.014410	0	0
KCNN3	3782	broad.mit.edu	37	1	154744721	154744721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:154744721G>A	ENST00000271915.3	-	3	1493	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	KCNN3_ENST00000361147.4_Missense_Mutation_p.S88F|KCNN3_ENST00000358505.2_Missense_Mutation_p.S80F	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	398						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGTGTGTAGGAGAAGGCCAG	0.607000													8	37					0	0	0.006214	0	0
OLFML3	56944	broad.mit.edu	37	1	114524268	114524268	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:114524268C>T	ENST00000369551.1	+	4	1326	c.1038C>T	c.(1036-1038)ccC>ccT	p.P346P	OLFML3_ENST00000320334.4_Silent_p.P366P|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Silent_p.P346P			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	366	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTATTTTCCCCGCAGATATG	0.582000													15	43					0	0	0.004007	0	0
LMAN1L	79748	broad.mit.edu	37	15	75105204	75105204	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:75105204G>A	ENST00000309664.5	+	1	148	c.9G>A	c.(7-9)gcG>gcA	p.A3A	LMAN1L_ENST00000379709.3_Silent_p.A3A	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	3						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						CGATGCCGGCGGTCAGTGGTC	0.647000													45	57					0	0	0.013114	0	0
RLTPR	146206	broad.mit.edu	37	16	67681857	67681857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:67681857G>A	ENST00000334583.6	+	13	1395	c.1067G>A	c.(1066-1068)aGt>aAt	p.S356N	RLTPR_ENST00000545661.1_Missense_Mutation_p.S356N	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	356										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TCCGAGGACAGTGGGGTGAGT	0.672000													14	13					0	0	0.004007	0	0
ZNF148	7707	broad.mit.edu	37	3	124952531	124952531	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:124952531G>T	ENST00000360647.4	-	9	1524	c.1039C>A	c.(1039-1041)Cct>Act	p.P347T	ZNF148_ENST00000484491.1_Missense_Mutation_p.P347T|ZNF148_ENST00000485866.1_Missense_Mutation_p.P347T|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.P347T|ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	347					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GAATAAAGAGGCAAGTAATCA	0.363000													14	40					1.05317e-09	1.1628e-09	0.020292	1	0
PCDHB1	29930	broad.mit.edu	37	5	140433453	140433453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:140433453G>A	ENST00000306549.3	+	1	2475	c.2398G>A	c.(2398-2400)Gat>Aat	p.D800N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		800					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAAATTCTGATAGGAATAA	0.443000													37	65					0	0	0.019004	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120372	38120372	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:38120372C>T	ENST00000406386.3	+	7	2064	c.1809C>T	c.(1807-1809)gcC>gcT	p.A603A	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	603					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CATCCTGTGCCCAGCGGGACA	0.587000													14	227					0	0	0.003163	0	0
IGSF10	285313	broad.mit.edu	37	3	151164524	151164524	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:151164524G>C	ENST00000282466.3	-	4	3244	c.3245C>G	c.(3244-3246)cCa>cGa	p.P1082R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1082					cell differentiation|multicellular organismal development|ossification	extracellular region		p.P1082R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAGCACTTGGAAAAGACAA	0.488000													35	77					0	0	0.017118	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436926	72436926	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:72436926C>T	ENST00000392627.1	+	2	2272	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	GPRC5C_ENST00000392629.2_Silent_p.F349F|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Silent_p.F22F	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	337						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGAGCATGTTCGTGGAGAACA	0.582000													24	42					0	0	0.004656	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398197	77398197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:77398197C>T	ENST00000282849.5	-	5	1278	c.860G>A	c.(859-861)gGa>gAa	p.G287E		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	287					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G287E(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTGTGATTTTCCAGCTGATCT	0.488000													28	55					0	0	0.008361	0	0
GATM	2628	broad.mit.edu	37	15	45660331	45660331	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:45660331G>A	ENST00000396659.3	-	4	951	c.612C>T	c.(610-612)ttC>ttT	p.F204F	GATM_ENST00000558336.1_Silent_p.F204F	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	204					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	CGCCACGGTGGAAGTAGTCTT	0.473000													11	30					0	0	0.013537	0	0
KCNK1	3775	broad.mit.edu	37	1	233807082	233807082	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:233807082C>T	ENST00000366621.3	+	3	985	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	KCNK1_ENST00000366620.1_Silent_p.L157L|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	273						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)	ACTCCATGAGCTGAAAAAATT	0.443000													16	94					0	0	0.003163	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829338	146829338	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:146829338G>A	ENST00000361727.3	+	8	1601	c.1083_splice	c.e8-1	p.G362_splice		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	362	Laminin G-like 1.				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	p.G362E(1)		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)			ATTTTACAGGGAAATTTGAGC	0.433000										HNSCC(39;0.1)			38	64					0	0	0.008740	0	0
ABCD3	5825	broad.mit.edu	37	1	94956753	94956753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:94956753C>T	ENST00000370214.4	+	16	1360	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	ABCD3_ENST00000536817.1_Missense_Mutation_p.P373S|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Missense_Mutation_p.P470S|ABCD3_ENST00000394233.2_Missense_Mutation_p.P336S	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	446	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TGATCATGTTCCTTTAGCAAC	0.269000													15	30					0	0	0.004990	0	0
PIANP	196500	broad.mit.edu	37	12	6806658	6806658	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr12:6806658G>A	ENST00000534837.1	-	3	547	c.318C>T	c.(316-318)atC>atT	p.I106I	PIANP_ENST00000540656.1_Silent_p.I106I|PIANP_ENST00000320591.5_Silent_p.I106I	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		GACCCCACACGATAGCCCAGG	0.622000													11	19					0	0	0.008291	0	0
TSKS	60385	broad.mit.edu	37	19	50245250	50245250	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:50245250G>A	ENST00000246801.3	-	9	1471	c.1389C>T	c.(1387-1389)tcC>tcT	p.S463S	TSKS_ENST00000358830.3_Silent_p.S263S	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	463							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCTGCTGCAGGGACTCCGTAG	0.627000													14	38					0	0	0.004007	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707649	96707649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:96707649G>A	ENST00000260682.6	+	4	607	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	199					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)	TAACTTAATGGAAAAGTTGAA	0.383000													22	37					0	0	0.014323	0	0
DDX41	51428	broad.mit.edu	37	5	176943935	176943935	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:176943935C>T	ENST00000507955.1	-	1	535	c.12G>A	c.(10-12)tcG>tcA	p.S4S	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	4					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GTTCGGGTTCCGACTCCTCCA	0.662000													10	32					0	0	0.008291	0	0
EPPK1	83481	broad.mit.edu	37	8	144944041	144944041	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:144944041C>T	ENST00000525985.1	-	2	3452	c.3381G>A	c.(3379-3381)caG>caA	p.Q1127Q				P58107	EPIPL_HUMAN	epiplakin 1	1127						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCTCTGGACCTGCTCCTCGG	0.672000													6	7					0	0	0.003080	0	0
CYP2S1	29785	broad.mit.edu	37	19	41700509	41700509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:41700509G>A	ENST00000310054.4	+	2	454	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	CYP2S1_ENST00000542619.1_5'UTR	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	80					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GCCTGTGGTGGTCCTGGTTGG	0.627000													13	39					0	0	0.013537	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	171384	171384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:171384C>T	ENST00000283426.6	+	14	2857	c.2807C>T	c.(2806-2808)cCc>cTc	p.P936L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	936	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTGCTGCGGCCCGTGCAGCGT	0.687000													4	16					0	0	0.001984	0	0
MERTK	10461	broad.mit.edu	37	2	112786409	112786409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:112786409G>A	ENST00000295408.4	+	19	3225	c.2968G>A	c.(2968-2970)Gac>Aac	p.D990N	MERTK_ENST00000409780.1_Missense_Mutation_p.D814N|MERTK_ENST00000421804.2_Missense_Mutation_p.D990N			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	990					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTTTGCTGACGACTCCTCAGA	0.507000													17	51					0	0	0.006122	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033087	20033087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:20033087G>A	ENST00000377340.2	-	2	414	c.383C>T	c.(382-384)tCc>tTc	p.S128F	CRNKL1_ENST00000536226.1_5'UTR|CRNKL1_ENST00000377327.4_Missense_Mutation_p.S116F	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	128					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAACAAACAGGATCTCGGAAC	0.587000													57	58					0	0	0.014410	0	0
LILRB4	11006	broad.mit.edu	37	19	55179409	55179409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:55179409C>T	ENST00000391736.1	+	14	1601	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L	LILRB4_ENST00000391734.3_Missense_Mutation_p.P376L|LILRB4_ENST00000391733.3_Missense_Mutation_p.P430L|LILRB4_ENST00000430952.2_Missense_Mutation_p.P428L|LILRB4_ENST00000270452.2_Missense_Mutation_p.P429L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	429						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGCCTCCTCCATCCCAGGAA	0.617000													29	79					0	0	0.010818	0	0
POP4	10775	broad.mit.edu	37	19	30106215	30106215	+	Silent	SNP	G	G	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:30106215G>T	ENST00000585603.1	+	7	2893	c.591G>T	c.(589-591)ggG>ggT	p.G197G	POP4_ENST00000392279.3_Silent_p.G116G|POP4_ENST00000221770.3_Silent_p.G73G|POP4_ENST00000591824.1_3'UTR			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	197					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding			breast(1)|endometrium(1)|lung(4)	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)			ACATTTACGGGAGCAAATTCC	0.418000													13	30					4.3838e-07	4.8064e-07	0.016723	1	0
KRT12	3859	broad.mit.edu	37	17	39019761	39019761	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:39019761G>A	ENST00000251643.4	-	5	1094	c.1071C>T	c.(1069-1071)atC>atT	p.I357I		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	357	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				ACTGTAGCTCGATCTCCAGGT	0.552000													13	36					0	0	0.020292	0	0
LAD1	3898	broad.mit.edu	37	1	201353961	201353961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:201353961C>T	ENST00000391967.2	-	5	1435	c.1134G>A	c.(1132-1134)atG>atA	p.M378I	LAD1_ENST00000367313.3_Missense_Mutation_p.M392I	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	378						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TCTTGGGTTTCATCTGAAATG	0.527000													66	64					0	0	0.014410	0	0
C22orf42	150297	broad.mit.edu	37	22	32554976	32554976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:32554976G>A	ENST00000382097.3	-	1	299	c.227C>T	c.(226-228)tCc>tTc	p.S76F		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	76										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TTTACCTTTGGACATCTTCAG	0.547000													43	131					0	0	0.013114	0	0
GPA33	10223	broad.mit.edu	37	1	167059496	167059496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:167059496C>T	ENST00000367868.3	-	1	372	c.29G>A	c.(28-30)tGg>tAg	p.W10*		NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	10						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACAGAGTGTCCACAACACAGG	0.572000													18	43					0	0	0.016522	0	0
REG4	83998	broad.mit.edu	37	1	120337285	120337285	+	Missense_Mutation	SNP	C	C	T	rs150927973		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:120337285C>T	ENST00000354219.1	-	7	872	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	REG4_ENST00000256585.5_Missense_Mutation_p.E145K|REG4_ENST00000530654.1_3'UTR	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	145	C-type lectin.					extracellular region	sugar binding	p.E145K(2)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TTGTTGCATTCGTTGCTGCTC	0.423000													170	372					0	0	0.014410	0	0
C21orf59	56683	broad.mit.edu	37	21	33982302	33982302	+	Silent	SNP	T	T	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:33982302T>C	ENST00000382549.4	-	2	495	c.153A>G	c.(151-153)ttA>ttG	p.L51L	C21orf59_ENST00000540881.1_Intron|C21orf59_ENST00000290155.3_Silent_p.L51L|C21ORF59_ENST00000607686.1_Silent_p.L51L			P57076	CU059_HUMAN	chromosome 21 open reading frame 59	51						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						CATGTTCGGCTAATTCTTCCA	0.403000													15	26					0	0	0.004007	0	0
USH2A	7399	broad.mit.edu	37	1	216373145	216373145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:216373145G>A	ENST00000366943.2	-	17	4021	c.3635C>T	c.(3634-3636)cCa>cTa	p.P1212L	USH2A_ENST00000307340.3_Missense_Mutation_p.P1212L|USH2A_ENST00000366942.3_Missense_Mutation_p.P1212L|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1212	Fibronectin type-III 2.		P -> L (in USH2A).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTGGCAAATGGAACCAGATT	0.498000										HNSCC(13;0.011)			39	90					0	0	0.007835	0	0
SLC22A20	440044	broad.mit.edu	37	11	64985155	64985155	+	RNA	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:64985155C>T	ENST00000525437.1	+	0	668							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						AACTCCGTCTCCCTGGTGAGT	0.647000													11	22					0	0	0.020292	0	0
STAG3	10734	broad.mit.edu	37	7	99797259	99797259	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:99797259G>C	ENST00000426455.1	+	16	2076	c.1669G>C	c.(1669-1671)Ggg>Cgg	p.G557R	STAG3_ENST00000317296.5_Missense_Mutation_p.G557R|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.G499R			Q9UJ98	STAG3_HUMAN	stromal antigen 3	557					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGGGTCACTGGGAGGAAGGT	0.582000													6	13					0	0	0.003080	0	0
PREX2	80243	broad.mit.edu	37	8	68965427	68965427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:68965427G>A	ENST00000288368.4	+	9	1316	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	347	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAAAACACCTGAAGAGAAGCA	0.388000													17	40					0	0	0.004990	0	0
SMURF2	64750	broad.mit.edu	37	17	62553739	62553739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:62553739G>A	ENST00000262435.9	-	13	1605	c.1418C>T	c.(1417-1419)tCt>tTt	p.S473F		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	473	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ATTAACTGCAGAATCAGGATT	0.308000													30	60					0	0	0.009535	0	0
PDCD4	27250	broad.mit.edu	37	10	112642835	112642835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:112642835C>T	ENST00000393104.2	+	5	748	c.388C>T	c.(388-390)Cct>Tct	p.P130S	PDCD4_ENST00000280154.7_Missense_Mutation_p.P141S	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	141				V -> G (in Ref. 2; AAB67706).	apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGTGAAAGATCCTAACTATGA	0.383000													27	30					0	0	0.006320	0	0
OBSCN	84033	broad.mit.edu	37	1	228491481	228491481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:228491481G>A	ENST00000570156.2	+	52	13918	c.13844G>A	c.(13843-13845)cGg>cAg	p.R4615Q	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1305Q|OBSCN_ENST00000366709.4_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3658					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGGAGTGGCGGAAGGGGTCT	0.607000													60	103					0	0	0.014410	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84872130	84872130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:84872130C>T	ENST00000262424.5	+	2	253	c.29C>T	c.(28-30)cCc>cTc	p.P10L	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.P10L|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000569090.1_Missense_Mutation_p.P10L|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.P10L	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	10						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GGTGTCATCCCCTTGGGGCTG	0.617000													54	88					0	0	0.014410	0	0
PUS7	54517	broad.mit.edu	37	7	105148566	105148566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:105148566C>T	ENST00000356362.2	-	2	608	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	PUS7_ENST00000469408.1_Missense_Mutation_p.E132K	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	132					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ATGTACCTTTCTTTTAAGATT	0.358000													12	36					0	0	0.010729	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378643	31378643	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:31378643C>T	ENST00000297142.3	-	2	562	c.240G>A	c.(238-240)agG>agA	p.R80R		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	80					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TCTTTTTTTTCCTAAGACCCC	0.517000													45	132					0	0	0.014410	0	0
GPR142	350383	broad.mit.edu	37	17	72368061	72368061	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:72368061G>A	ENST00000335666.4	+	4	759	c.711G>A	c.(709-711)ctG>ctA	p.L237L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	237						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCAACATCCTGGAGTTTGCTG	0.657000													9	26					0	0	0.006214	0	0
ZAN	7455	broad.mit.edu	37	7	100346076	100346076	+	RNA	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:100346076G>A	ENST00000542585.1	+	0	1380				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGCCCTGCGGGAGGTTTCCCT	0.592000													6	12					0	0	0.001984	0	0
ACTA2	59	broad.mit.edu	37	10	90703574	90703574	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:90703574T>C	ENST00000458208.1	-	4	823	c.349A>G	c.(349-351)Aac>Gac	p.N117D	ACTA2_ENST00000224784.6_Missense_Mutation_p.N117D|ACTA2_ENST00000480297.1_5'UTR|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	117			N -> T (in AAT6).		response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TTCTCCCGGTTGGCCTTGGGG	0.537000													25	27					0	0	0.006320	0	0
EMC4	51234	broad.mit.edu	37	15	34520784	34520784	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:34520784C>T	ENST00000267750.4	+	4	626	c.510C>T	c.(508-510)ccC>ccT	p.P170P	EMC4_ENST00000249209.4_Intron|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000559078.1_Intron|EMC4_ENST00000557879.1_3'UTR	NM_016454.2	NP_057538.1			ER membrane protein complex subunit 4																		TCATTGAGCCCCCTGAGGTAA	0.443000													4	133					0	0	0.014758	0	0
ADCY8	114	broad.mit.edu	37	8	131812690	131812690	+	Silent	SNP	G	G	A	rs142352284		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:131812690G>A	ENST00000286355.5	-	15	5134	c.3042C>T	c.(3040-3042)atC>atT	p.I1014I	ADCY8_ENST00000377928.3_Silent_p.I883I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1014					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGTCAGCAATGATCTCATTGA	0.428000										HNSCC(32;0.087)			25	76					0	0	0.021523	0	0
KIF4B	285643	broad.mit.edu	37	5	154394176	154394176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:154394176G>A	ENST00000435029.4	+	1	917	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	253	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACCAAGGCTGAAGGGGATCG	0.428000													24	61					0	0	0.018920	0	0
C6orf118	168090	broad.mit.edu	37	6	165706919	165706919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:165706919G>A	ENST00000543069.1	-	6	1372	c.791C>T	c.(790-792)tCt>tTt	p.S264F	C6orf118_ENST00000230301.8_Missense_Mutation_p.S368F			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	368										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTCCTTTGCAGACTGCAGCAA	0.453000													46	72					0	0	0.014410	0	0
NUP210L	91181	broad.mit.edu	37	1	154026785	154026785	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:154026785C>T	ENST00000368559.3	-	25	3473	c.3402G>A	c.(3400-3402)ggG>ggA	p.G1134G	NUP210L_ENST00000271854.3_Silent_p.G1134G|NUP210L_ENST00000368553.1_Silent_p.G67G	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1134						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAACAATCTTCCCTGTAACTT	0.473000													31	45					0	0	0.009535	0	0
TMEM53	79639	broad.mit.edu	37	1	45120814	45120814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:45120814G>A	ENST00000372237.3	-	3	414	c.251C>T	c.(250-252)cCt>cTt	p.P84L	TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Missense_Mutation_p.P84L|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372235.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	84						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					ACGAAGTGAAGGGATACCCAG	0.552000											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	50					0	0	0.008871	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22165256	22165256	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:22165256G>A	ENST00000344041.6	-	25	2355	c.2043C>T	c.(2041-2043)gtC>gtT	p.V681V	RAPGEF5_ENST00000401957.2_Silent_p.V531V	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	531					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCAGGGTTCGGACAGTGTCTG	0.468000													35	79					0	0	0.005524	0	0
GPR179	440435	broad.mit.edu	37	17	36483885	36483885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:36483885C>T	ENST00000342292.4	-	11	5587	c.5567G>A	c.(5566-5568)gGa>gAa	p.G1856E	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1856						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)				TACGTCTTCTCCCAGGGAAGT	0.498000													45	102					0	0	0.014410	0	0
ANKFN1	162282	broad.mit.edu	37	17	54428271	54428271	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:54428271C>T	ENST00000566473.2	+	4	342	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ANKFN1_ENST00000318698.2_Silent_p.F114F			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	114										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACTCTTCCTTCGATGAGGCCT	0.448000													24	33					0	0	0.005443	0	0
ACTN2	88	broad.mit.edu	37	1	236902833	236902833	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:236902833G>A	ENST00000366578.4	+	10	1273		c.e10+1		ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Splice_Site|ACTN2_ENST00000492634.1_Splice_Site	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2						focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GATGGTGTCGGTGAGTAGCAA	0.582000													10	37					0	0	0.006214	0	0
IL7R	3575	broad.mit.edu	37	5	35876446	35876446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:35876446G>A	ENST00000303115.3	+	8	1367	c.1238G>A	c.(1237-1239)aGc>aAc	p.S413N	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	413					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTACAAACAGCACGCTGCCC	0.522000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						16	34					0	0	0.003163	0	0
PPP2R3B	28227	broad.mit.edu	37	X	299624	299624	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:299624G>A	ENST00000390665.3	-	11	1377	c.1359C>T	c.(1357-1359)atC>atT	p.I453I		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	453					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGCAGCGTGATCTTCCCTG	0.607000													38	52					0	0	0.006999	0	0
VPS13C	54832	broad.mit.edu	37	15	62207918	62207918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:62207918C>T	ENST00000261517.5	-	61	8432	c.8359G>A	c.(8359-8361)Gaa>Aaa	p.E2787K	VPS13C_ENST00000395898.3_Missense_Mutation_p.E2744K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E2787K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E2744K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2787					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						TGAATATCTTCTGAACGATAC	0.393000													13	41					0	0	0.016723	0	0
CDH8	1006	broad.mit.edu	37	16	61851459	61851459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:61851459G>A	ENST00000577390.1	-	7	2155	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y	CDH8_ENST00000584337.1_Missense_Mutation_p.H401Y|CDH8_ENST00000577730.1_Missense_Mutation_p.H401Y|CDH8_ENST00000299345.6_Missense_Mutation_p.H401Y	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	401	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCATTTTCATGAACTTCAAGT	0.453000													18	42					0	0	0.007413	0	0
ZNF165	7718	broad.mit.edu	37	6	28057240	28057240	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:28057240T>A	ENST00000377325.1	+	4	2006	c.1450T>A	c.(1450-1452)Tta>Ata	p.L484I		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	484					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAAAACCTATTAATGTAAGG	0.353000													15	29					0	0	0.003163	0	0
CHP2	63928	broad.mit.edu	37	16	23768523	23768523	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:23768523T>C	ENST00000300113.2	+	6	839	c.414_splice	c.e6-1	p.V139_splice		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	139	EF-hand 3.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		ATCTCTCAGGTTCTCCGTCTG	0.557000													14	44					0	0	0.003163	0	0
NDRG4	65009	broad.mit.edu	37	16	58538174	58538174	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr16:58538174C>T	ENST00000394282.4	+	5	807	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	NDRG4_ENST00000566192.1_Nonsense_Mutation_p.Q82*|NDRG4_ENST00000570248.1_Nonsense_Mutation_p.Q82*|NDRG4_ENST00000562999.1_Nonsense_Mutation_p.Q82*|NDRG4_ENST00000568640.1_Nonsense_Mutation_p.Q100*|NDRG4_ENST00000258187.5_Nonsense_Mutation_p.Q114*|NDRG4_ENST00000569923.1_Nonsense_Mutation_p.Q27*|NDRG4_ENST00000394279.2_Nonsense_Mutation_p.Q114*|NDRG4_ENST00000563799.1_Nonsense_Mutation_p.Q100*|NDRG4_ENST00000356752.4_Nonsense_Mutation_p.Q112*	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	82					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GCAGTTTCCTCAGGGGTAGGT	0.612000													42	88					0	0	0.008740	0	0
AMPH	273	broad.mit.edu	37	7	38433666	38433666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr7:38433666G>A	ENST00000356264.2	-	18	1762	c.1547C>T	c.(1546-1548)aCc>aTc	p.T516I	AMPH_ENST00000325590.5_Missense_Mutation_p.T474I|AMPH_ENST00000428293.2_Missense_Mutation_p.T474I|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	516					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACCCTCAGTGGTTTCAGTTCC	0.602000													36	121					0	0	0.021022	0	0
OLFML3	56944	broad.mit.edu	37	1	114524269	114524269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:114524269C>T	ENST00000369551.1	+	4	1327	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	OLFML3_ENST00000320334.4_Missense_Mutation_p.R367C|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.R347C			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	367	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTATTTTCCCCGCAGATATGG	0.587000													15	44					0	0	0.004007	0	0
GPR98	84059	broad.mit.edu	37	5	89925204	89925204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:89925204G>A	ENST00000405460.2	+	9	1783	c.1687G>A	c.(1687-1689)Gga>Aga	p.G563R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	563					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATTCCTGCTGGAGCTGTGGA	0.403000													16	36					0	0	0.004990	0	0
TINAG	27283	broad.mit.edu	37	6	54173504	54173504	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:54173504C>T	ENST00000259782.4	+	1	252	c.156C>T	c.(154-156)ttC>ttT	p.F52F	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Silent_p.F34F|TINAG_ENST00000370869.3_Silent_p.F48F	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	52					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.F52F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GAGCCATTTTCCAAGGGCAAT	0.423000													47	93					0	0	0.014410	0	0
FADS6	283985	broad.mit.edu	37	17	72877225	72877225	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr17:72877225G>A	ENST00000310226.6	-	4	713	c.699C>T	c.(697-699)caC>caT	p.H233H		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	239					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GGAGGTAGGGGTGGGCCAACA	0.607000													18	17					0	0	0.008871	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433185	140433185	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:140433185C>T	ENST00000306549.3	+	1	2207	c.2130C>T	c.(2128-2130)ttC>ttT	p.F710F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		710					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGTGATCTTCATTATACATG	0.348000													23	67					0	0	0.012319	0	0
TTN	7273	broad.mit.edu	37	2	179408103	179408103	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:179408103G>A	ENST00000589042.1	-	347	96821	c.96597C>T	c.(96595-96597)gtC>gtT	p.V32199V	TTN_ENST00000460472.2_Silent_p.V23134V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V23326V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.V23259V|TTN_ENST00000342992.6_Silent_p.V29631V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V30558V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30558	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACTTCTGAGACCAGTACTG	0.458000													11	37					0	0	0.008291	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215759	20215759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr14:20215759C>T	ENST00000331723.1	+	1	173	c.173C>T	c.(172-174)tCt>tTt	p.S58F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCTCCAATCTCCTATGTAT	0.408000													42	307					0	0	0.011902	0	0
CDH17	1015	broad.mit.edu	37	8	95158288	95158288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:95158288G>A	ENST00000027335.3	-	15	2159	c.2035C>T	c.(2035-2037)Ccc>Tcc	p.P679S	CDH17_ENST00000441892.2_Missense_Mutation_p.P465S|CDH17_ENST00000450165.2_Missense_Mutation_p.P679S	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	679	Cadherin 7.					integral to membrane	calcium ion binding	p.P679T(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCACTGAGGGGATGGCAGAAG	0.502000													11	36					0	0	0.008291	0	0
MXRA5	25878	broad.mit.edu	37	X	3241875	3241875	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:3241875C>T	ENST00000217939.6	-	5	2005	c.1851G>A	c.(1849-1851)agG>agA	p.R617R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	617	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATTAATTATCCTTCTGTTTG	0.443000													17	20					0	0	0.006122	0	0
TCHH	7062	broad.mit.edu	37	1	152085305	152085305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr1:152085305C>T	ENST00000368804.1	-	2	387	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	130					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTTCTTCTTCCAGTTGTCTG	0.552000													78	236					0	0	0.014410	0	0
NLRP12	91662	broad.mit.edu	37	19	54327215	54327215	+	Silent	SNP	A	A	G			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:54327215A>G	ENST00000324134.6	-	1	382	c.214T>C	c.(214-216)Ttg>Ctg	p.L72L	NLRP12_ENST00000391772.1_Silent_p.L72L|NLRP12_ENST00000391775.3_Silent_p.L72L|NLRP12_ENST00000535162.1_Silent_p.L72L|NLRP12_ENST00000351894.4_Silent_p.L72L|NLRP12_ENST00000391773.1_Silent_p.L72L|NLRP12_ENST00000345770.5_Silent_p.L72L|NLRP12_ENST00000354278.3_Silent_p.L72L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	72	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTGAGAGCCAACCTCCAGGCC	0.617000													54	100					0	0	0.014410	0	0
PARD3	56288	broad.mit.edu	37	10	34688294	34688294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr10:34688294C>T	ENST00000374789.3	-	7	1179	c.854G>A	c.(853-855)gGa>gAa	p.G285E	PARD3_ENST00000346874.4_Missense_Mutation_p.G285E|PARD3_ENST00000340077.5_Missense_Mutation_p.G285E|PARD3_ENST00000374773.1_Missense_Mutation_p.G285E|PARD3_ENST00000374776.1_Missense_Mutation_p.G285E|PARD3_ENST00000545693.1_Missense_Mutation_p.G285E|PARD3_ENST00000545260.1_Missense_Mutation_p.G241E|PARD3_ENST00000350537.4_Missense_Mutation_p.G285E|PARD3_ENST00000374790.3_Missense_Mutation_p.G241E|PARD3_ENST00000544292.1_Missense_Mutation_p.G15E|PARD3_ENST00000374794.3_Missense_Mutation_p.G241E|PARD3_ENST00000374788.3_Missense_Mutation_p.G285E	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	285	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TACGTGGATTCCCAGAGGCCC	0.438000													37	93					0	0	0.013114	0	0
FAM83C	128876	broad.mit.edu	37	20	33875226	33875226	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:33875226G>A	ENST00000374408.3	-	4	1452	c.1356C>T	c.(1354-1356)ctC>ctT	p.L452L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	452										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGAACTGGAGGAGGGGCCGGG	0.642000													20	24					0	0	0.012319	0	0
THEMIS	387357	broad.mit.edu	37	6	128134112	128134112	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:128134112C>T	ENST00000368250.1	-	5	1935	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	THEMIS_ENST00000368248.2_Silent_p.P558P|THEMIS_ENST00000537166.1_Silent_p.P523P|THEMIS_ENST00000543064.1_Silent_p.P558P			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	558	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGGGGTGTTTCGGAGGGCGAG	0.483000													41	36					0	0	0.006999	0	0
DOPEY2	9980	broad.mit.edu	37	21	37571508	37571508	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr21:37571508C>T	ENST00000399151.3	+	3	364	c.279C>T	c.(277-279)atC>atT	p.I93I	DOPEY2_ENST00000492760.1_Intron	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	93					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTTTAAAATCGTGGGGACCA	0.473000													22	66					0	0	0.016522	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744139	70744139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr8:70744139C>T	ENST00000260126.3	-	2	1476	c.770G>A	c.(769-771)gGa>gAa	p.G257E	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G257E|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G257E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	257						integral to membrane|plasma membrane	transporter activity	p.G257E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTGATTATTTCCTCCCGAGTC	0.547000													20	39					0	0	0.014323	0	0
MICAL3	57553	broad.mit.edu	37	22	18354649	18354649	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:18354649G>A	ENST00000441493.2	-	17	2734	c.2382C>T	c.(2380-2382)tgC>tgT	p.C794C	MICAL3_ENST00000444520.1_Silent_p.C794C|MICAL3_ENST00000585038.1_Silent_p.C918C|MICAL3_ENST00000383094.3_Silent_p.C794C|MICAL3_ENST00000429452.1_Silent_p.C918C|MICAL3_ENST00000400561.2_Silent_p.C794C|MICAL3_ENST00000414725.2_Silent_p.C822C|MICAL3_ENST00000207726.7_Silent_p.C822C	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	794	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGGTGGTGGCGCAGTACTCGC	0.607000													4	9					0	0	0.001168	0	0
DHX36	170506	broad.mit.edu	37	3	154042118	154042118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:154042118G>A	ENST00000496811.1	-	1	168	c.88C>T	c.(88-90)Cat>Tat	p.H30Y	DHX36_ENST00000329463.5_Missense_Mutation_p.H30Y|DHX36_ENST00000308361.6_Missense_Mutation_p.H30Y|DHX36_ENST00000544526.1_Missense_Mutation_p.H30Y	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	30	Gly-rich.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTACCTCCATGACCCCCTGCT	0.697000													10	17					0	0	0.008291	0	0
IQCJ	654502	broad.mit.edu	37	3	158983100	158983100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr3:158983100C>T	ENST00000482126.1	+	4	412	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F	IQCJ_ENST00000451172.1_Missense_Mutation_p.L130F|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron	NM_001197100.1	NP_001184029.1			IQ motif containing J									p.L130V(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GGTGATTCTTCTCTACCTTGA	0.512000													29	84					0	0	0.008361	0	0
GRK4	2868	broad.mit.edu	37	4	3031062	3031062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr4:3031062G>A	ENST00000398052.4	+	12	1538	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	GRK4_ENST00000504933.1_Missense_Mutation_p.D399N|GRK4_ENST00000345167.6_Missense_Mutation_p.D367N|GRK4_ENST00000398051.4_Missense_Mutation_p.D367N|GRK4_ENST00000509545.1_3'UTR	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	399	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGAGGAGGTCGATCAAAGAAT	0.438000													14	30					0	0	0.003163	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166750	180166750	+	Silent	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:180166750G>A	ENST00000307832.2	-	1	349	c.309C>T	c.(307-309)atC>atT	p.I103I		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCTAGGTAGATGAAGAGCT	0.602000													12	29					0	0	0.013537	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703610	60703610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:60703610C>T	ENST00000005286.4	+	11	2459	c.2306C>T	c.(2305-2307)cCt>cTt	p.P769L	TMEM132A_ENST00000453848.2_Missense_Mutation_p.P768L	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	768	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGGCTGCCCCCTGCCTCCACT	0.721000													14	22					0	0	0.020292	0	0
JAG1	182	broad.mit.edu	37	20	10621857	10621857	+	Silent	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr20:10621857C>T	ENST00000254958.5	-	24	3467	c.2952G>A	c.(2950-2952)agG>agA	p.R984R	JAG1_ENST00000423891.2_Silent_p.R825R	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	984					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TATTCAAATTCCTCAATTCAC	0.393000									Alagille Syndrome				17	53					0	0	0.004007	0	0
SV2C	22987	broad.mit.edu	37	5	75427754	75427754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr5:75427754C>T	ENST00000502798.2	+	2	621	c.179C>T	c.(178-180)cCg>cTg	p.P60L	SV2C_ENST00000322285.7_Missense_Mutation_p.P60L	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	60					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.P60Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GACTACTACCCGGCTGGAGAA	0.493000													23	43					0	0	0.018920	0	0
LRFN2	57497	broad.mit.edu	37	6	40400344	40400344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:40400344C>T	ENST00000338305.6	-	2	1051	c.509G>A	c.(508-510)cGa>cAa	p.R170Q		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	170						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GACCATGCGTCGCACGGAGTC	0.602000													19	79					0	0	0.010504	0	0
CYP11A1	1583	broad.mit.edu	37	15	74635368	74635368	+	Missense_Mutation	SNP	C	C	T	rs6161	byFrequency	TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:74635368C>T	ENST00000358632.4	-	5	1161	c.466G>A	c.(466-468)Gag>Aag	p.E156K	CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Missense_Mutation_p.E314K|CYP11A1_ENST00000419019.2_Missense_Mutation_p.E156K	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	314					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	p.E314K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TTGATGTCCTCGAAGGACATC	0.577000													34	118					0	0	0.019004	0	0
APOB	338	broad.mit.edu	37	2	21252650	21252650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:21252650C>T	ENST00000233242.1	-	12	1605	c.1478G>A	c.(1477-1479)gGa>gAa	p.G493E	APOB_ENST00000399256.4_Missense_Mutation_p.G493E	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	493	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCCCATATTTCCAATGACCTG	0.428000													165	441					0	0	0.014410	0	0
ATP8B4	79895	broad.mit.edu	37	15	50254215	50254215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr15:50254215C>T	ENST00000284509.6	-	14	1387	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	ATP8B4_ENST00000559829.1_Missense_Mutation_p.E416K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	416					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCATGTACTTCACCTGACAAA	0.269000													8	19					0	0	0.006214	0	0
TBC1D17	79735	broad.mit.edu	37	19	50390828	50390828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr19:50390828G>A	ENST00000221543.5	+	14	1839	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	TBC1D17_ENST00000535102.2_Missense_Mutation_p.E481K	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	514	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCGGCTGTGGGAGGTGGGCCA	0.647000													13	28					0	0	0.020292	0	0
APLNR	187	broad.mit.edu	37	11	57004345	57004345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr11:57004345C>T	ENST00000606794.1	-	1	330	c.134G>A	c.(133-135)gGc>gAc	p.G45D		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	45						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAGACCGTTGCCCGTGGTGCC	0.597000													19	73					0	0	0.010504	0	0
AC068490.2	0	broad.mit.edu	37	2	22412519	22412519	+	RNA	DEL	A	A	-			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr2:22412519delA	ENST00000450551.1	-	0	200																											CAGATCAATTAATTGCAGAAT	0.393													4	3	---	---	---	---					
HIST1H2AA	221613	broad.mit.edu	37	6	25726526	25726527	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr6:25726526_25726527insT	ENST00000297012.3	-	1	263_264	c.229_230insA	c.(229-231)tcgfs	p.S77fs		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	77					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						AATAATGCGAGTTTTTTTGTTA	0.545													26	113	---	---	---	---					
DGCR5	26220	broad.mit.edu	37	22	18976301	18976324	+	RNA	DEL	TATTTATTTATTTATTTATTTATT	TATTTATTTATTTATTTATTTATT	-	rs139950802		TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT	ENST00000438934.1	+	0	394				DGCR5_ENST00000421572.1_RNA|DGCR5_ENST00000440005.2_RNA																							TGGCTGGACAtatttatttatttatttatttatttatttattta	0.411													2	4	---	---	---	---					
CA5BP1	340591	broad.mit.edu	37	X	15715615	15715616	+	RNA	DEL	CT	CT	-			TCGA-EE-A2GU-06A-11D-A196-08	TCGA-EE-A2GU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49f063c5-bd61-4143-898f-891f9d9bc429	c3feacc2-5a26-4bb2-a312-8b2ee53ccad1	g.chrX:15715615_15715616delCT	ENST00000380334.2	+	0	321																											CCTGGAGCTCCTCTGGACCACT	0.460													2	4	---	---	---	---					
