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
STK33	65975	broad.mit.edu	37	11	8474411	8474411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:8474411C>T	ENST00000447869.1	-	7	1747	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	STK33_ENST00000396672.1_Missense_Mutation_p.E277K|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.E90K|STK33_ENST00000315204.1_Missense_Mutation_p.E277K|STK33_ENST00000396673.1_Missense_Mutation_p.E277K|STK33_ENST00000534493.1_Missense_Mutation_p.E236K			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	277	Protein kinase.					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)		AGCATGGCTTCACTCCTACTT	0.438000													98	8					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307882	54307882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:54307882G>A	ENST00000545554.1	+	1	2782	c.2782G>A	c.(2782-2784)Gat>Aat	p.D928N	UNC13C_ENST00000537900.1_Missense_Mutation_p.D928N|UNC13C_ENST00000260323.11_Missense_Mutation_p.D928N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	928					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCCAGCAGATGATATGGTTAG	0.388000													24	30					0	0	1	0	0
HADHB	3032	broad.mit.edu	37	2	26502047	26502047	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:26502047C>T	ENST00000317799.5	+	9	779	c.675C>T	c.(673-675)caC>caT	p.H225H	HADHB_ENST00000405867.3_Intron|HADHB_ENST00000537713.1_Silent_p.H210H|HADHB_ENST00000545822.1_Silent_p.H203H|HADHB_ENST00000494615.1_3'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	225					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATGGGCCACTCTGCAGACC	0.537000													40	93					0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87744896	87744896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:87744896G>A	ENST00000273905.6	-	6	1226	c.1079C>T	c.(1078-1080)cCa>cTa	p.P360L		NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	360						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GCAATCCATTGGCCCTGGTGG	0.542000													12	32					0	0	1	0	0
MBL1P	8512	broad.mit.edu	37	10	81680742	81680742	+	RNA	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:81680742G>A	ENST00000480805.1	+	0	809					NR_002724.2																						GCCCTCCTGGGAAGATGGGGC	0.537000													8	5					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145618702	145618702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:145618702C>T	ENST00000349769.3	-	37	4343	c.4249G>A	c.(4249-4251)Gag>Aag	p.E1417K	CPSF1_ENST00000531727.1_5'UTR	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1417					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TTGGCTAGCTCGCTGCGCTCC	0.687000													3	13					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210471	100210471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:100210471G>A	ENST00000317233.4	-	14	1887	c.1652C>T	c.(1651-1653)cCc>cTc	p.P551L	AFF3_ENST00000409579.1_Missense_Mutation_p.P576L|AFF3_ENST00000356421.2_Missense_Mutation_p.P576L|AFF3_ENST00000409236.1_Missense_Mutation_p.P551L	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	551					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACGGCCGCGGGCGGGGACTT	0.706000													32	90					0	0	1	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28297363	28297363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:28297363G>A	ENST00000414429.1	-	6	1001	c.98C>T	c.(97-99)tCt>tTt	p.S33F	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.S33F|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.S33F|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.S33F					zinc finger and SCAN domain containing 31																		TTCTTGGCCAGAAAAGTTGTT	0.502000													46	206					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197021831	197021831	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:197021831G>A	ENST00000367412.1	-	9	1531	c.1488C>T	c.(1486-1488)acC>acT	p.T496T		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	496	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CAGACAATGGGGTTAATGGAG	0.318000													40	52					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168108064	168108064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:168108064G>A	ENST00000409195.1	+	9	10251	c.10162G>A	c.(10162-10164)Gac>Aac	p.D3388N	XIRP2_ENST00000409273.1_Missense_Mutation_p.D3166N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D3388N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3213					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						GAGTTTTACAGACTTTTCTTG	0.388000													67	63					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151123888	151123888	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:151123888G>A	ENST00000370325.1	-	8	1142	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	GABRE_ENST00000370328.3_Silent_p.F363F|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	363					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGTAGATCAGGAAGTTGAGCA	0.498000													26	4					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779982	91779982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:91779982C>T	ENST00000389857.6	-	15	2264	c.2178G>A	c.(2176-2178)atG>atA	p.M726I		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	726					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCTCCCTCTCCATCTGTGCCA	0.612000													24	43					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10875115	10875115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:10875115C>T	ENST00000379491.4	-	5	781	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	212					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TCTGGATTTTCCAAGGGAGGT	0.428000													39	66					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169390657	169390657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:169390657G>A	ENST00000545005.1	-	4	1519	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	CCDC181_ENST00000367805.3_Nonsense_Mutation_p.R338*|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Nonsense_Mutation_p.R338*					coiled-coil domain containing 181																		TCTTTCTGTCGAGGGGAAAGA	0.383000													40	69					0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57294155	57294155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:57294155C>T	ENST00000288266.3	+	18	1816	c.1669C>T	c.(1669-1671)Cca>Tca	p.P557S		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	557	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GTTAATTGATCCACAGACACA	0.294000													7	13					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52603381	52603381	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:52603381C>T	ENST00000521776.2	+	2	1174	c.441C>T	c.(439-441)atC>atT	p.I147I	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	147					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		ACCCTATCATCCTGAAGAACC	0.493000													31	78					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125716406	125716406	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:125716406G>A	ENST00000518547.1	-	2	572	c.99C>T	c.(97-99)ttC>ttT	p.F33F	MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Silent_p.F33F|MTSS1_ENST00000378017.3_Silent_p.F33F	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	33	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTTGTTTATGAAATCTTCCC	0.448000													31	68					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8504401	8504401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:8504401C>T	ENST00000381196.4	-	20	2225	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	PTPRD_ENST00000397617.3_Missense_Mutation_p.R551Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R561Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R548Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R558Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R548Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R561Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R561Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R561Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R551Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R558Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	561	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATGGTAATTCGTTGCTGGAA	0.433000										TSP Lung(15;0.13)			76	9					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317956	31317956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:31317956G>A	ENST00000265071.2	+	11	2072	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K	CDH6_ENST00000514738.1_Missense_Mutation_p.E548K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	603	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTGCCATGCGGAGGCGCTCAT	0.572000													30	24					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191500	152191500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:152191500G>A	ENST00000368801.2	-	3	2680	c.2605C>T	c.(2605-2607)Cag>Tag	p.Q869*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	869					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCATGCTGACCATAGCTG	0.607000													69	59					0	0	1	0	0
MGAT4A	11320	broad.mit.edu	37	2	99291553	99291553	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:99291553C>T	ENST00000393487.1	-	4	661	c.348G>A	c.(346-348)ttG>ttA	p.L116L	MGAT4A_ENST00000409391.1_Silent_p.L116L|MGAT4A_ENST00000264968.2_Silent_p.L116L	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	116					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CTTCATTTTTCAATAAATGAG	0.348000													39	40					0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144135968	144135968	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:144135968A>T	ENST00000307017.4	+	9	3345	c.2839A>T	c.(2839-2841)Aaa>Taa	p.K947*	USP38_ENST00000510377.1_Nonsense_Mutation_p.K947*	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	947					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GCTTTTGTATAAAAAACAGCA	0.368000													18	18					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19379467	19379467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:19379467G>A	ENST00000338883.4	-	28	3846	c.3847C>T	c.(3847-3849)Ctt>Ttt	p.L1283F	PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.L1115F|PDHA1_ENST00000422285.2_3'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.L718F|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1283							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CGTAGTCGAAGGTATCTTAGA	0.388000													13	3					0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15769734	15769734	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:15769734C>T	ENST00000381341.2	+	25	2273	c.1884C>T	c.(1882-1884)taC>taT	p.Y628Y	DDX1_ENST00000233084.3_Silent_p.Y628Y			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	628	Helicase C-terminal.|Necessary for interaction with HNRNPK.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		AGGTTTGGTACCATGTATGTA	0.358000													13	20					0	0	1	0	0
HN1	51155	broad.mit.edu	37	17	73144668	73144668	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:73144668A>G	ENST00000476258.1	-	2	1124	c.17T>C	c.(16-18)tTt>tCt	p.F6S	HN1_ENST00000482348.1_Missense_Mutation_p.F6S|HN1_ENST00000470924.1_Missense_Mutation_p.F6S|HN1_ENST00000481647.1_Missense_Mutation_p.F6S|HN1_ENST00000392566.2_Missense_Mutation_p.F6S|HN1_ENST00000465454.1_5'UTR|HN1_ENST00000405458.3_Missense_Mutation_p.F6S|HN1_ENST00000409753.3_Missense_Mutation_p.F52S|HN1_ENST00000356033.4_Missense_Mutation_p.F52S|HN1_ENST00000581874.1_Missense_Mutation_p.F52S			Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	52						nucleus			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					AGGTGTCCCAAAGATATTAGA	0.458000													11	26					0	0	1	0	0
DOK7	285489	broad.mit.edu	37	4	3475241	3475241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:3475241C>T	ENST00000340083.5	+	3	274	c.209C>T	c.(208-210)cCc>cTc	p.P70L	DOK7_ENST00000507039.1_Missense_Mutation_p.P70L|DOK7_ENST00000389653.2_Missense_Mutation_p.P70L	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	70	PH.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCGGCCTGCCCTACGAGGGC	0.647000													11	19					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109861769	109861769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:109861769G>A	ENST00000399132.1	-	10	1128	c.598C>T	c.(598-600)Cct>Tct	p.P200S	COL25A1_ENST00000399126.1_Missense_Mutation_p.P200S|COL25A1_ENST00000399127.1_Missense_Mutation_p.P196S	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	200	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGAGGGCCAGGGGGTCCTGGA	0.567000													28	54					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46991809	46991809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:46991809C>T	ENST00000371253.2	-	5	637	c.422G>A	c.(421-423)aGc>aAc	p.S141N	GPR110_ENST00000371243.2_Missense_Mutation_p.S141N|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	141					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GACACTCTGGCTGAGGTTGTT	0.527000													51	43					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100348402	100348402	+	RNA	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:100348402C>T	ENST00000542585.1	+	0	1552				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_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)			TCGAACTCCTCCTGGGAAGTC	0.622000													16	5					0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3100899	3100899	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:3100899G>A	ENST00000381951.1	+	1	87	c.87G>A	c.(85-87)gtG>gtA	p.V29V		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TCTTCTTTGTGATTTTTTTGT	0.403000													51	88					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047238	9047238	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:9047238T>C	ENST00000397910.4	-	5	34596	c.34393A>G	c.(34393-34395)Atc>Gtc	p.I11465V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11467	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						CCAGAACTGATGACCAGTGAG	0.493000													90	59					0	0	1	0	0
MAF	4094	broad.mit.edu	37	16	79632785	79632785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:79632785G>A	ENST00000393350.1	-	1	1826	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	MAF_ENST00000569649.1_Missense_Mutation_p.R339C|MAF_ENST00000326043.4_Missense_Mutation_p.R339C	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	339	Represses ARE-mediated transcription.				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		TCCCTCTCGCGCACCAGCCTG	0.587000			T	IGH@	MM								25	12					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754586	76754586	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:76754586G>A	ENST00000536229.3	+	1	2905	c.2196G>A	c.(2194-2196)gtG>gtA	p.V732V	SALL3_ENST00000575389.2_Silent_p.V865V|SALL3_ENST00000537592.2_Silent_p.V865V			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	865					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCAAGTCCGTGGAGAACGGGT	0.677000													28	28					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116045715	116045715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:116045715G>A	ENST00000603594.1	+	11	1336	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	VWA2_ENST00000392982.3_Missense_Mutation_p.E339K	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	339						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCTGAGCCTGGAATGCAGGGT	0.627000													28	33					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186692894	186692894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:186692894G>A	ENST00000343098.5	+	21	20752	c.20752G>A	c.(20752-20754)Gaa>Aaa	p.E6918K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E6829K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAGTTCTCAGGAACAAAAGCC	0.294000													26	30					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207516587	207516587	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:207516587G>A	ENST00000452335.2	-	12	1808	c.1692C>T	c.(1690-1692)gcC>gcT	p.A564A		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	564						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GGGCAGAGAAGGCCCTGCACA	0.473000													25	44					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407127	55407127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:55407127C>T	ENST00000341048.4	-	10	1599	c.1448G>A	c.(1447-1449)aGa>aAa	p.R483K	ANKRD55_ENST00000434982.2_Missense_Mutation_p.R195K|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R440K	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	482										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GCAGCCAGTTCTGTTATTTAA	0.458000													42	56					0	0	1	0	0
HOXD4	3233	broad.mit.edu	37	2	177017588	177017588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:177017588C>T	ENST00000306324.3	+	2	1098	c.686C>T	c.(685-687)tCa>tTa	p.S229L	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	229	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TCTTCCTCCTCATCTTGCTCC	0.547000													76	71					0	0	1	0	0
ASAH2	56624	broad.mit.edu	37	10	52005181	52005181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:52005181C>T	ENST00000395526.3	-	2	160	c.161G>A	c.(160-162)aGc>aAc	p.S54N	ASAH2_ENST00000329428.6_Missense_Mutation_p.S35N|ASAH2_ENST00000447815.1_Missense_Mutation_p.S54N	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	54					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GGCTGGAGGGCTTTGGGTGGT	0.488000													17	19					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40270412	40270412	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:40270412G>A	ENST00000225916.5	-	7	1136	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	361					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						CCTCCAGCATGGACAGGAATC	0.597000													39	43					0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56077640	56077640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:56077640G>A	ENST00000394252.3	+	2	751	c.542G>A	c.(541-543)gGa>gAa	p.G181E		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	181							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						GAACCATATGGAAGCTGGGCC	0.542000													32	50					0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15164333	15164333	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:15164333T>G	ENST00000427043.3	+	3	376	c.68T>G	c.(67-69)cTg>cGg	p.L23R	CASP14_ENST00000221740.1_Missense_Mutation_p.L23R	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	23					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GCCCTAATACTGTGTGTCACC	0.512000													43	69					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151336985	151336985	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:151336985G>A	ENST00000370314.4	-	10	1432	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	GABRA3_ENST00000370311.1_Silent_p.I398I|GABRA3_ENST00000535043.1_Silent_p.I398I|RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	398					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGTCCCCACGATGTTGAAGG	0.517000													78	16					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80639989	80639989	+	Missense_Mutation	SNP	G	G	A	rs113234186		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:80639989G>A	ENST00000307624.3	-	9	998	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	324					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CTGCCTAGGCGAATTCGCTTG	0.368000													16	18					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12001227	12001227	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:12001227G>A	ENST00000356352.2	-	11	2786	c.2313C>T	c.(2311-2313)ctC>ctT	p.L771L	UPF2_ENST00000397053.2_Silent_p.L771L|UPF2_ENST00000357604.5_Silent_p.L771L			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	771	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CATATTCCTGGAGAGGAGGAC	0.408000													251	342					0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20781786	20781786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:20781786G>A	ENST00000405555.3	-	10	1662	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L	SCARF2_ENST00000266214.5_Missense_Mutation_p.P536L	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	531					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CAGCCCTGAGGGTGGCTCCAG	0.622000													71	3					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55591182	55591182	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:55591182C>T	ENST00000373965.2	-	31	4510	c.4116G>A	c.(4114-4116)aaG>aaA	p.K1372K	PCDH15_ENST00000409834.1_Silent_p.K976K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Silent_p.K1343K|PCDH15_ENST00000395430.1_Silent_p.K1365K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.K1328K|PCDH15_ENST00000395445.1_Silent_p.K1372K|PCDH15_ENST00000320301.6_Silent_p.K1365K|PCDH15_ENST00000437009.1_Silent_p.K1294K|PCDH15_ENST00000361849.3_Silent_p.K1365K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Silent_p.K1365K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Silent_p.K1370K|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1365					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTCTCCTCTCTTTTTAATGC	0.483000										HNSCC(58;0.16)			29	20					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71690521	71690521	+	Silent	SNP	T	T	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:71690521T>C	ENST00000393524.2	-	14	2875	c.2142A>G	c.(2140-2142)tcA>tcG	p.S714S	PHLPP2_ENST00000360429.3_Silent_p.S781S|PHLPP2_ENST00000540628.1_5'UTR|PHLPP2_ENST00000567016.1_Silent_p.S816S|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000568954.1_Silent_p.S781S|PHLPP2_ENST00000356272.3_Silent_p.S781S			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	781						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TCCAGAAGGTTGACGTAACTG	0.453000													79	49					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79382679	79382679	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:79382679G>A	ENST00000419573.3	-	1	436	c.162C>T	c.(160-162)ttC>ttT	p.F54F	RASGRF1_ENST00000558480.2_Silent_p.F54F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	54	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGTCGCTCTCGAAGTAGAAGA	0.647000													30	43					0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100135229	100135229	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:100135229G>A	ENST00000357223.2	+	8	1856	c.1791G>A	c.(1789-1791)ttG>ttA	p.L597L	HHIPL1_ENST00000330710.5_Intron	NM_032425.4	NP_115801.3	Q96JK4	HIPL1_HUMAN	HHIP-like 1	0					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCagctcattgacgtctcagc	0.622000													22	29					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169566244	169566244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:169566244G>A	ENST00000263686.6	-	11	1913	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	SELP_ENST00000367792.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.P564S|SELP_ENST00000367786.2_Missense_Mutation_p.P564S|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.P564S|SELP_ENST00000367793.2_Missense_Mutation_p.P564S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	626	Sushi 7.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.P626T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAGGTTGGTGGAGTAGCTGAC	0.398000													26	70					0	0	1	0	0
UBXN8	7993	broad.mit.edu	37	8	30601740	30601740	+	RNA	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:30601740C>T	ENST00000519246.1	+	0	50							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						CATTTTCTTCCTCTCTGCTGT	0.582000													7	19					0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40184975	40184975	+	Missense_Mutation	SNP	C	C	T	rs66473060		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:40184975C>T	ENST00000360214.3	+	4	581	c.121C>T	c.(121-123)Cct>Tct	p.P41S	ETS2_ENST00000360938.3_Missense_Mutation_p.P41S	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	41					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TGCTGTTTTTCCTTCTCTAAA	0.398000													38	86					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919278	51919278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:51919278G>A	ENST00000353836.5	-	5	1119	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S	CTD-2616J11.2_ENST00000532688.1_RNA|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.P300S|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.P217S|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.P242S|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.P252S|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.P242S|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.P300S	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	300	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGGCCCCAGGGATGGGACGAG	0.662000													11	29					0	0	1	0	0
RP11-464F9.1	0	broad.mit.edu	37	10	75481240	75481240	+	RNA	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:75481240G>A	ENST00000399449.3	-	0	718				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							CACCATTCCAGAAAGGCAGAA	0.343000													15	22					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22609910	22609910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:22609910G>A	ENST00000333957.4	-	23	2974	c.2719C>T	c.(2719-2721)Cgg>Tgg	p.R907W	C2CD5_ENST00000542676.1_Missense_Mutation_p.R958W|C2CD5_ENST00000396028.2_Missense_Mutation_p.R949W|C2CD5_ENST00000544930.1_Missense_Mutation_p.R763W|C2CD5_ENST00000446597.1_Missense_Mutation_p.R958W|C2CD5_ENST00000545552.1_Missense_Mutation_p.R961W|C2CD5_ENST00000536386.1_Missense_Mutation_p.R960W	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		ATTACCTCCCGAAGAGAAGTA	0.274000													13	11					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43244488	43244488	+	Missense_Mutation	SNP	C	C	T	rs144627053	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:43244488C>T	ENST00000327495.5	-	1	233	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	PSG3_ENST00000595140.1_Missense_Mutation_p.G17R	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	17					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)				AGCAGGAGCCCCTTCCAGGTG	0.612000													57	126					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17953950	17953950	+	Missense_Mutation	SNP	G	G	A	rs55778349	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:17953950G>A	ENST00000458235.1	-	5	551	c.452C>T	c.(451-453)cCc>cTc	p.P151L	JAK3_ENST00000534444.1_Missense_Mutation_p.P151L|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Missense_Mutation_p.P151L	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	151	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		P -> R (in T(-)B(+)NK(-) SCID; dbSNP:rs55778349).		B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P151R(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GAGGCCCACGGGGAGGCGCCC	0.677000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								10	13					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122620069	122620069	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:122620069C>T	ENST00000319080.6	+	11	2020	c.1888C>T	c.(1888-1890)Ctg>Ttg	p.L630L	MLXIP_ENST00000538698.1_Silent_p.L237L|MLXIP_ENST00000535996.1_3'UTR			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CAGCAGCATCCTGGTGACAGA	0.657000													6	5					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835995	12835995	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:12835995G>A	ENST00000357726.4	+	2	624	c.597G>A	c.(595-597)acG>acA	p.T199T		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	199										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)		TCCTGAACACGGTGGAGCTAG	0.527000													72	17					0	0	1	0	0
HRH4	59340	broad.mit.edu	37	18	22056862	22056862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:22056862C>T	ENST00000256906.4	+	3	609	c.509C>T	c.(508-510)tCg>tTg	p.S170L	HRH4_ENST00000426880.2_Missense_Mutation_p.S82L	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	170						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	GGATTTTTTTCGGAATGGTAC	0.433000													39	60					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81736965	81736965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:81736965G>A	ENST00000267540.2	-	5	2862	c.2662C>T	c.(2662-2664)Ccc>Tcc	p.P888S	STON2_ENST00000555447.1_Intron	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	888					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGGGTAGTGGGGTGAACAAAT	0.483000													47	64					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	99039905	99039905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:99039905G>A	ENST00000254898.5	+	14	2435	c.2204G>A	c.(2203-2205)gGg>gAg	p.G735E	MATN2_ENST00000521689.1_Missense_Mutation_p.G735E|MATN2_ENST00000520016.1_Missense_Mutation_p.G735E|MATN2_ENST00000524308.1_Missense_Mutation_p.G694E|MATN2_ENST00000522025.2_Missense_Mutation_p.G451E|RPL30_ENST00000518164.1_Intron	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	735	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TCTATGACTGGGCTGGCCCTG	0.517000													13	28					0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507726	18507726	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:18507726C>T	ENST00000339007.3	-	1	701	c.48G>A	c.(46-48)cgG>cgA	p.R16R	LRRC25_ENST00000595840.1_Silent_p.R16R	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	16						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TGTCTGACTCCCGCAGCAGCA	0.622000													25	24					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40126847	40126847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:40126847G>A	ENST00000373233.3	-	7	1112	c.935C>T	c.(934-936)cCg>cTg	p.P312L	CHD6_ENST00000373222.3_Missense_Mutation_p.P347L|CHD6_ENST00000309279.7_Missense_Mutation_p.P312L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	312	Chromo 1.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAAGTCGAACGGAGGTTCTCC	0.383000													10	29					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024554	16024554	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:16024554C>T	ENST00000402119.3	-	12	1989	c.1563G>A	c.(1561-1563)gcG>gcA	p.A521A	CYP4F11_ENST00000248041.7_Silent_p.A521A|CYP4F11_ENST00000326742.7_3'UTR	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	521					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ACTGTGAGTTCGCACCCAGGG	0.592000													12	6					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63257242	63257242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:63257242C>T	ENST00000323865.3	-	1	538	c.305G>A	c.(304-306)tGg>tAg	p.W102*	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	102					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCCCAGTGTCCACTTGTTGAG	0.587000													8	11					0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38151308	38151308	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:38151308C>T	ENST00000264639.4	+	7	1257	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	PSMD3_ENST00000541736.1_Silent_p.F223F	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	361	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TGCCCTATTTCCTTCTGACTC	0.587000													62	79					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			100	13					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040668	88040668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:88040668G>A	ENST00000319595.4	+	1	823	c.769G>A	c.(769-771)Gac>Aac	p.D257N		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	257					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CCCATCAACAGACTTTGATAA	0.408000													27	20					0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026812	182026812	+	Missense_Mutation	SNP	C	C	T	rs141227760	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:182026812C>T	ENST00000339948.3	-	2	541	c.334G>A	c.(334-336)Gag>Aag	p.E112K		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCCTGGGTCTCGTTGATCTTT	0.547000													28	100					0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21959320	21959320	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:21959320C>T	ENST00000289921.7	+	14	1855	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	603										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						AGGGCCACTTCCTCCGAGTGC	0.642000													23	9					0	0	1	0	0
SNORD114-28	767609	broad.mit.edu	37	14	101455479	101455479	+	RNA	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:101455479G>A	ENST00000363610.1	+	0	13					NR_003221.1																						GATCGATGATGACTGCTGGTG	0.363000													32	50					0	0	1	0	0
ZDHHC3	51304	broad.mit.edu	37	3	44986667	44986667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:44986667G>A	ENST00000296127.3	-	3	697	c.424C>T	c.(424-426)Cac>Tac	p.H142Y	ZDHHC3_ENST00000342790.4_Missense_Mutation_p.H176Y|ZDHHC3_ENST00000424952.2_Missense_Mutation_p.H142Y	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	142						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		TACCTGCAGTGGTGGGCTCGG	0.572000													70	51					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10721443	10721443	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:10721443G>A	ENST00000283025.2	-	7	1526	c.1455C>T	c.(1453-1455)acC>acT	p.T485T	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	485					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GCGGTGCTCAGGTGTGGCCCA	0.552000													57	45					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46747431	46747431	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:46747431G>A	ENST00000311907.5	+	7	638	c.582G>A	c.(580-582)gcG>gcA	p.A194A	F2_ENST00000530231.1_Silent_p.A194A	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	194				AM -> MV (in Ref. 9; AA sequence).	activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TCACTGTAGCGATGACTCCAC	0.617000													63	8					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236212240	236212240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:236212240G>A	ENST00000264187.6	-	2	357	c.275C>T	c.(274-276)tCc>tTc	p.S92F	NID1_ENST00000366595.3_Missense_Mutation_p.S92F	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	92					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCCGGGATGGGATTCTTTGGC	0.532000													38	125					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175072	207175072	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:207175072G>A	ENST00000374423.3	+	5	6206	c.5820G>A	c.(5818-5820)gcG>gcA	p.A1940A		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1940							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCCAGACAGCGAAAATCAGCC	0.448000													53	47					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857019	210857019	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:210857019C>T	ENST00000367007.4	-	11	2662	c.2493G>A	c.(2491-2493)tcG>tcA	p.S831S	KCNH1_ENST00000271751.4_Silent_p.S858S	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	858					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTGTCTCCATCGACTCAGCCT	0.592000													84	84					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	12934076	12934076	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:12934076G>A	ENST00000379348.2	+	4	639	c.462G>A	c.(460-462)aaG>aaA	p.K154K	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	0						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AAGGAGCTAAGAGAAGGAGGG	0.522000													20	65					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32776606	32776606	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:32776606C>T	ENST00000380250.3	+	31	4456	c.3960C>T	c.(3958-3960)gcC>gcT	p.A1320A		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGTCACTTGCCCTCTTGTCAT	0.493000													22	126					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91643619	91643619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:91643619G>A	ENST00000359028.2	+	11	3850	c.3625G>A	c.(3625-3627)Gaa>Aaa	p.E1209K	AKAP9_ENST00000356239.3_Missense_Mutation_p.E1197K|AKAP9_ENST00000358100.2_Missense_Mutation_p.E1209K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1209					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGCAGTGTCTGAAGAATGTTC	0.358000			T	BRAF	papillary thyroid								11	7					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94928743	94928743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:94928743C>T	ENST00000357742.4	+	13	1777	c.1777C>T	c.(1777-1779)Ccc>Tcc	p.P593S	MCTP2_ENST00000451018.3_Missense_Mutation_p.P593S|MCTP2_ENST00000557742.1_Missense_Mutation_p.P181S|MCTP2_ENST00000331706.4_Missense_Mutation_p.P181S	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	593					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGTTGCCATTCCCTTGCTGTC	0.353000													35	42					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164767590	164767590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:164767590G>A	ENST00000264382.3	-	14	1648	c.1586C>T	c.(1585-1587)cCg>cTg	p.P529L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	529	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGGAGTAAACGGTGGATAATT	0.279000										HNSCC(35;0.089)			26	25					0	0	1	0	0
SPATS1	221409	broad.mit.edu	37	6	44329570	44329570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:44329570G>A	ENST00000288390.2	+	4	762	c.415G>A	c.(415-417)Gat>Aat	p.D139N	SPATS1_ENST00000323108.8_Missense_Mutation_p.D139N			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	139										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TATTGCAGAAGATGGGCATCG	0.483000													87	211					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84347203	84347203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:84347203G>A	ENST00000295488.3	-	14	2881	c.2719C>T	c.(2719-2721)Ctt>Ttt	p.L907F	HELQ_ENST00000510985.1_Missense_Mutation_p.L840F	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	907							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GAGACTCCAAGAATGGCAGCT	0.383000								Other identified genes with known or suspected DNA repair function					39	55					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327355	57327355	+	Missense_Mutation	SNP	G	G	A	rs143073381		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:57327355G>A	ENST00000326441.9	-	10	2818	c.2455C>T	c.(2455-2457)Cgt>Tgt	p.R819C	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R695C|PEG3_ENST00000593695.1_Missense_Mutation_p.R693C|PEG3_ENST00000423103.2_Missense_Mutation_p.R819C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	819					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R819C(2)		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)		CCTCCAGCACGAACTCTCTGA	0.458000													44	81					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24007015	24007015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:24007015G>A	ENST00000328046.8	-	4	1093	c.838C>T	c.(838-840)Ccg>Tcg	p.P280S		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	280										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GTAGTTTGCGGTTTTGCAGAA	0.433000													54	12					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718853	25718853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:25718853G>A	ENST00000520164.1	-	12	1673	c.1136C>T	c.(1135-1137)gCt>gTt	p.A379V	EBF2_ENST00000535548.1_Missense_Mutation_p.A110V|EBF2_ENST00000408929.3_Missense_Mutation_p.A231V	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	379					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.A379V(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GCCATAAAGAGCTTCCACTAG	0.403000													29	61					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55805463	55805463	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:55805463C>T	ENST00000309383.1	+	5	814	c.537C>T	c.(535-537)tcC>tcT	p.S179S	BRSK1_ENST00000585418.1_Silent_p.S179S|BRSK1_ENST00000590333.1_Silent_p.S195S	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	179	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCATGGCGTCCCTGCAGGTGG	0.612000													86	180					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088558	86088558	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:86088558G>C	ENST00000330753.4	+	2	1467	c.700G>C	c.(700-702)Gaa>Caa	p.E234Q	FLRT2_ENST00000554746.1_Missense_Mutation_p.E234Q	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	234					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAAGCTCAAGGAATTTTCAAT	0.517000													43	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595650	179595650	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:179595650A>G	ENST00000589042.1	-	60	17965		c.e60+1		TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			AACAATACCAACCTAATACAT	0.338000													86	167					0	0	1	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252139	26252139	+	Silent	SNP	T	T	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:26252139T>C	ENST00000356350.2	+	1	261	c.261T>C	c.(259-261)cgT>cgC	p.R87R		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	87					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						ACAACAAGCGTTCGACCATCA	0.602000													64	149					0	0	1	0	0
ENTPD5	957	broad.mit.edu	37	14	74439639	74439639	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:74439639G>A	ENST00000334696.6	-	13	1294	c.975C>T	c.(973-975)tcC>tcT	p.S325S	ENTPD5_ENST00000557325.1_Silent_p.S325S	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	325					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		AAGCATAGAAGGAACCTCTCT	0.537000													70	108					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247737516	247737516	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:247737516C>T	ENST00000366491.2	+	7	677	c.180C>T	c.(178-180)tcC>tcT	p.S60S	GCSAML_ENST00000366488.4_Silent_p.S80S|GCSAML_ENST00000536561.1_Silent_p.S60S|GCSAML_ENST00000366489.1_Silent_p.S60S|GCSAML_ENST00000527541.1_Silent_p.S48S|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000527084.1_Silent_p.S48S|GCSAML_ENST00000463359.1_Silent_p.S48S|RP11-978I15.10_ENST00000446347.1_RNA					germinal center-associated, signaling and motility-like																		ATCAGAGATCCTCCCTGAGCT	0.438000													46	42					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49750127	49750127	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:49750127G>A	ENST00000432042.1	+	24	2534	c.2274G>A	c.(2272-2274)aaG>aaA	p.K758K	RNF123_ENST00000327697.6_Intron			Q5XPI4	RN123_HUMAN	ring finger protein 123	0						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		AAGCAGAAAAGGGGTCTCTAG	0.577000													10	30					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233750217	233750217	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:233750217G>A	ENST00000366621.3	+	1	468	c.300G>A	c.(298-300)tgG>tgA	p.W100*		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	100						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)	CGGGCAACTGGAACTGGGACT	0.682000													14	19					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15639211	15639211	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:15639211T>A	ENST00000378076.3	-	21	2559	c.2206A>T	c.(2206-2208)Aca>Tca	p.T736S	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	736					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTTACATTTGTTCCAGACACC	0.448000													35	32					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306534	61306534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:61306534G>A	ENST00000341074.5	-	7	768	c.653C>T	c.(652-654)tCc>tTc	p.S218F	SERPINB4_ENST00000356424.6_Intron	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AAAATTAAAGGAATTGTATTG	0.368000													13	13					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141680542	141680542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:141680542C>T	ENST00000389484.3	-	21	4282	c.3311G>A	c.(3310-3312)tGg>tAg	p.W1104*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1104	LDL-receptor class A 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCTGTACTCCAACAGGAAAA	0.433000										TSP Lung(27;0.18)			46	39					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65104786	65104786	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:65104786G>A	ENST00000358691.5	-	30	4712	c.4546C>T	c.(4546-4548)Cag>Tag	p.Q1516*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.Q1517*	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTCCACTGCTGGAACCGTGCC	0.507000													36	49					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24590118	24590118	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:24590118C>T	ENST00000446197.3	+	12	1891	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	DCAF11_ENST00000396936.1_Silent_p.S288S|DCAF11_ENST00000559115.1_Silent_p.S388S|DCAF11_ENST00000396941.4_Silent_p.S362S	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	388						CUL4 RING ubiquitin ligase complex	protein binding										GACGCTTTTCCAGCCGGGAAG	0.517000													53	60					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369458	56369458	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:56369458C>T	ENST00000301295.6	+	3	1121	c.699C>T	c.(697-699)ttC>ttT	p.F233F	NLRP4_ENST00000587891.1_Silent_p.F158F|NLRP4_ENST00000346986.5_Silent_p.F233F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	233	NACHT.						ATP binding	p.F233F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCGACAGCTTCGAAGAGCTGC	0.547000													55	41					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12315760	12315760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:12315760G>A	ENST00000256186.2	+	3	1073	c.782G>A	c.(781-783)cGa>cAa	p.R261Q		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	261					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.R261Q(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CAAGGGGAGCGAAACGTGCCT	0.642000													25	1					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156144622	156144622	+	Missense_Mutation	SNP	C	C	T	rs111977724		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:156144622C>T	ENST00000368285.3	+	12	1592	c.1325C>T	c.(1324-1326)tCg>tTg	p.S442L	SEMA4A_ENST00000355014.2_Missense_Mutation_p.S442L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.S442L|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S310L|SEMA4A_ENST00000368286.2_Missense_Mutation_p.S310L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	442	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GCCACAGGGTCGCTCCACAAG	0.572000													18	36					0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77378743	77378743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:77378743G>A	ENST00000334955.7	+	3	733	c.706G>A	c.(706-708)Ggg>Agg	p.G236R	RSBN1L_ENST00000445288.1_5'UTR	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	236	Lys-rich.					nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCAACAGGTGGGAAGGAGAA	0.294000													7	0					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141754	29141754	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:29141754C>T	ENST00000377167.2	+	1	444	c.342C>T	c.(340-342)gtC>gtT	p.V114V		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CAGAGTGTGTCCTACTGGTGG	0.488000													274	153					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34073276	34073276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:34073276C>T	ENST00000254466.6	-	6	1267	c.1240G>A	c.(1240-1242)Gga>Aga	p.G414R	GAS2L2_ENST00000587565.1_Missense_Mutation_p.G398R	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	414					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAATCCTTCCCCTGGGGAGT	0.597000													84	122					0	0	1	0	0
TMEM255A	55026	broad.mit.edu	37	X	119427889	119427889	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:119427889G>A	ENST00000371369.4	-	3	445	c.219C>T	c.(217-219)ttC>ttT	p.F73F	TMEM255A_ENST00000309720.5_Silent_p.F73F|TMEM255A_ENST00000440464.1_Silent_p.F73F	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		TGATTCCAAGGAACGATCCAA	0.408000													32	7					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13700953	13700953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:13700953C>T	ENST00000265104.4	-	78	13623	c.13519G>A	c.(13519-13521)Gct>Act	p.A4507T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4507					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)					TTGTCCAGAGCCCAGCCTTTG	0.438000									Kartagener syndrome				30	38					0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104171814	104171814	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:104171814G>A	ENST00000392876.3	-	14	1480	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	480							hydrolase activity|metal ion binding	p.F480L(1)|p.F405L(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GGTCTGTGCGGAACAGGCTTC	0.478000													19	30					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496705	20496705	+	RNA	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:20496705G>A	ENST00000555186.1	+	0	758					NR_038836.1																						GTTTGAACATGAAAGAAATGT	0.423000													8	38					0	0	1	0	0
NPIPB5	100132247	broad.mit.edu	37	16	22545867	22545867	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:22545867C>T	ENST00000424340.1	+	7	1842	c.1563C>T	c.(1561-1563)gcC>gcT	p.A521A	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Silent_p.A521A	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		AGCTCACTGCCCTTCCACCCT	0.572000													32	271					0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719488	48719488	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:48719488G>A	ENST00000294129.2	-	4	707	c.588C>T	c.(586-588)gcC>gcT	p.A196A	NCKIPSD_ENST00000416649.2_Silent_p.A189A|NCKIPSD_ENST00000341520.4_Silent_p.A196A	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	196	Pro-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACTCCCAGAGGCCATCAGGG	0.612000													37	20					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962639	69962639	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:69962639A>G	ENST00000305231.7	+	1	447	c.401A>G	c.(400-402)aAg>aGg	p.K134R	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.K134R	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	134					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			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						GTTTCAAATAAGAAATTTATG	0.323000													17	19					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99879297	99879297	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:99879297G>A	ENST00000331768.5	-	8	999	c.840C>T	c.(838-840)acC>acT	p.T280T	SETD3_ENST00000436070.2_Silent_p.T280T|SETD3_ENST00000329331.3_Silent_p.T280T	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	280	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CCAGGCCGTTGGTGTGGTTAC	0.512000													16	27					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376706	8376706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:8376706C>T	ENST00000538603.1	-	5	787	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	FAM90A1_ENST00000307435.6_Missense_Mutation_p.E77K	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	77							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCCTTCCCTTCCTTTTCCCCA	0.552000													50	57					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28623772	28623772	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:28623772C>T	ENST00000380982.4	-	7	963	c.882_splice	c.e7+1	p.E294_splice	FLT3_ENST00000241453.7_Splice_Site_p.E294_splice|FLT3_ENST00000537084.1_Splice_Site_p.E294_splice			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	294	Ig-like C2-type.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTCCTATTACCTCCTCGAGTG	0.383000			"""Mis, O"""		"""AML, ALL"""								14	114					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24655610	24655610	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:24655610G>A	ENST00000354464.6	-	10	1064	c.888C>T	c.(886-888)ttC>ttT	p.F296F	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	296					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCACAATGGGGAAAAGGGTGT	0.562000													66	78					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29641238	29641238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:29641238G>A	ENST00000376883.1	-	6	1001	c.590C>T	c.(589-591)tCc>tTc	p.S197F	ZFP57_ENST00000376881.3_Missense_Mutation_p.S197F|ZFP57_ENST00000488757.1_Missense_Mutation_p.S217F			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	133					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						ATAGCTGAGGGACTTGGGGCT	0.537000													54	135					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9044649	9044649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:9044649G>A	ENST00000382496.5	-	22	3606	c.2941C>T	c.(2941-2943)Ctc>Ttc	p.L981F	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	981					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGGCAGCCGAGGATGGAGCTG	0.567000													22	37					0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190430207	190430207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:190430207C>T	ENST00000261024.2	-	6	1059	c.633G>A	c.(631-633)tgG>tgA	p.W211*		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	211					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			ATACCAAGTTCCATCCCGAAA	0.488000													45	29					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643198	1643198	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:1643198A>C	ENST00000399682.1	-	1	170	c.126T>G	c.(124-126)tgT>tgG	p.C42W		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	42						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cacagcccccacagccggagc	0.697000													40	4					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126741134	126741134	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:126741134C>T	ENST00000251772.4	+	21	4245	c.4176C>T	c.(4174-4176)ctC>ctT	p.L1392L	PLXNA1_ENST00000393409.2_Silent_p.L1415L			Q9UIW2	PLXA1_HUMAN	plexin A1	1415					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TTTCCGACCTCATCGAGAAGA	0.652000													19	19					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17108112	17108112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:17108112C>T	ENST00000443236.1	-	11	1076	c.1045G>A	c.(1045-1047)Gac>Aac	p.D349N	CPAMD8_ENST00000388925.4_Missense_Mutation_p.D302N	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	302						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						GGGATCATGTCCCTCACGCAG	0.617000													5	7					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513913	1513913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:1513913G>A	ENST00000421627.2	+	3	1189	c.1055G>A	c.(1054-1056)aGa>aAa	p.R352K	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	431					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCTGCAGGAGAATGAGAAGT	0.542000													6	14					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71619234	71619234	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:71619234C>T	ENST00000408926.3	+	4	873	c.339C>T	c.(337-339)ttC>ttT	p.F113F	XKR9_ENST00000520030.1_Silent_p.F113F|XKR9_ENST00000520273.1_3'UTR	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	113						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTAGTAACTTCGTGGAAGAAC	0.358000													36	21					0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146658739	146658739	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:146658739T>A	ENST00000254090.4	-	9	1730	c.1342A>T	c.(1342-1344)Aat>Tat	p.N448Y	FMO5_ENST00000441068.2_Intron|FMO5_ENST00000369272.3_3'UTR|RP11-337C18.8_ENST00000607149.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	448						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GACAGCAGATTGGGCCTGACC	0.507000													25	62					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120995135	120995135	+	Silent	SNP	T	T	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:120995135T>C	ENST00000325954.4	+	5	1157	c.696T>C	c.(694-696)ccT>ccC	p.P232P	RNF10_ENST00000413266.2_Silent_p.P232P	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	232					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTATCCACCTACTGCAGCCA	0.478000													64	73					0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11598418	11598418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:11598418G>A	ENST00000293771.5	-	4	996	c.860C>T	c.(859-861)gCg>gTg	p.A287V	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A287V(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						GCTGGGGCCCGCACCCACTTG	0.687000													4	90					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14730271	14730271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:14730271G>A	ENST00000253673.5	-	16	2033	c.1933C>T	c.(1933-1935)Cca>Tca	p.P645S	EMR3_ENST00000344373.4_Missense_Mutation_p.P593S|EMR3_ENST00000599900.1_Missense_Mutation_p.P430S|EMR3_ENST00000443157.2_Missense_Mutation_p.P519S	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	645					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						ACTTGTCCTGGAAAAACATCC	0.338000													46	34					0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:66729162C>T	ENST00000307102.5	+	3	901	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	124	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(8)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGT	0.507000													26	29					0	0	1	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77043690	77043690	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:77043690G>A	ENST00000339142.2	+	5	921	c.366G>A	c.(364-366)agG>agA	p.R122R	C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000583904.1_Silent_p.R122R|C1QTNF1_ENST00000580454.1_Silent_p.R122R|C1QTNF1_ENST00000581774.1_Silent_p.R122R|C1QTNF1_ENST00000580474.1_Silent_p.R122R|C1QTNF1_ENST00000578229.1_Silent_p.R40R|C1QTNF1_ENST00000392445.2_Silent_p.R122R|C1QTNF1_ENST00000354124.3_Silent_p.R132R|C1QTNF1_ENST00000579760.1_Silent_p.R122R|C1QTNF1_ENST00000311661.4_Silent_p.R40R	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	122	Collagen-like.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CAGGGGCCAGGGGCCACACTG	0.627000													47	72					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14666552	14666552	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:14666552T>C	ENST00000282096.4	+	1	1284	c.931T>C	c.(931-933)Tgc>Cgc	p.C311R	PDE3B_ENST00000455098.2_Missense_Mutation_p.C311R|PDE3B_ENST00000534317.1_3'UTR	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	311					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTATGGCAGTTGCAAAATATT	0.552000													76	7					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201013573	201013573	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:201013573C>T	ENST00000362061.3	-	39	4906	c.4680G>A	c.(4678-4680)cgG>cgA	p.R1560R	CACNA1S_ENST00000367338.3_Silent_p.R1541R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1560					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTCAATGGTCCGCAGCCCTG	0.582000													36	71					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49674964	49674964	+	Missense_Mutation	SNP	G	G	A	rs145771389	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:49674964G>A	ENST00000252826.5	+	8	1114	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	TRPM4_ENST00000355712.5_Missense_Mutation_p.E47K|TRPM4_ENST00000427978.2_Missense_Mutation_p.E330K|TRPM4_ENST00000601347.1_3'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	330					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)		CAGGCAAGGCGAAGCCCGAGA	0.642000													36	32					0	0	1	0	0
LCE1A	353131	broad.mit.edu	37	1	152800131	152800131	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:152800131C>T	ENST00000335123.2	+	1	183	c.183C>T	c.(181-183)agC>agT	p.S61S		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	61	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	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)			GCGGCTGCAGCTCTGGGGGAG	0.677000													47	56					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31744340	31744340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:31744340G>A	ENST00000375686.3	-	2	454	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.R73C|VWA7_ENST00000375688.4_Missense_Mutation_p.R73C	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	73						extracellular region											TCCTCAAGACGAAGAGGGGGG	0.632000													146	361					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251631	24251631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:24251631G>A	ENST00000538205.1	+	5	644	c.97G>A	c.(97-99)Gag>Aag	p.E33K	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.E112K|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.E33K|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	112					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		ACCCAGAGGAGAGGAAATTAC	0.458000													15	27					0	0	1	0	0
LGALS14	56891	broad.mit.edu	37	19	40196569	40196569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:40196569C>T	ENST00000360675.3	+	2	288	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	LGALS14_ENST00000392052.3_Intron	NM_203471.1	NP_982297.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	0	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CCACAGGCTTCATTTGTGCAA	0.478000													66	50					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156817538	156817538	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:156817538C>T	ENST00000347377.6	+	30	3887	c.3456C>T	c.(3454-3456)ttC>ttT	p.F1152F	CYFIP2_ENST00000318218.6_Silent_p.F1177F|CYFIP2_ENST00000377576.3_Silent_p.F1152F|CYFIP2_ENST00000521420.1_Silent_p.F1126F|CYFIP2_ENST00000435847.2_Silent_p.F851F|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Silent_p.F956F|CYFIP2_ENST00000541131.1_Silent_p.F1077F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1177					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCAGTGTTTCGGCGATGGCT	0.607000													101	147					0	0	1	0	0
FAM98B	283742	broad.mit.edu	37	15	38757556	38757556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:38757556G>A	ENST00000397609.2	+	3	339	c.304G>A	c.(304-306)Gat>Aat	p.D102N	FAM98B_ENST00000491535.1_Missense_Mutation_p.D102N	NM_173611.2	NP_775882.2	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	102						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		CATATCAGGAGATATTAAAGA	0.308000													10	13					0	0	1	0	0
BNIPL	149428	broad.mit.edu	37	1	151018346	151018346	+	Missense_Mutation	SNP	C	C	T	rs150851524		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:151018346C>T	ENST00000295294.7	+	8	1288	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	BNIPL_ENST00000491386.1_3'UTR|BNIPL_ENST00000368931.3_Missense_Mutation_p.R309W	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	309	CRAL-TRIO.				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCACTGCTTCGGCCCTTCAT	0.443000													62	114					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060828	9060828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:9060828G>A	ENST00000397910.4	-	3	26821	c.26618C>T	c.(26617-26619)tCt>tTt	p.S8873F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8875	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						GCTACTCTCAGATGGTGTGGA	0.507000													39	69					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839399	62839399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:62839399G>A	ENST00000536311.1	+	7	1214	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.E284K			Q01538	MYT1_HUMAN	myelin transcription factor 1	284	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					agaggaggaggaagaggaaga	0.557000													10	11					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861301	52861301	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:52861301G>A	ENST00000343457.3	-	4	1893	c.1887C>T	c.(1885-1887)tcC>tcT	p.S629S		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	629						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GCAAATCAATGGATGAACTCA	0.522000													19	37					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167631594	167631594	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:167631594C>T	ENST00000519204.1	+	18	3547	c.3429C>T	c.(3427-3429)ccC>ccT	p.P1143P	TENM2_ENST00000520394.1_Silent_p.P1032P|TENM2_ENST00000403607.2_Silent_p.P1088P|TENM2_ENST00000518659.1_Silent_p.P1264P|TENM2_ENST00000545108.1_Silent_p.P1264P					teneurin transmembrane protein 2																		GCATCTTTCCCTCTCGAAATG	0.517000													18	28					0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89531573	89531573	+	Missense_Mutation	SNP	G	G	A	rs9667365	by1000genomes	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:89531573G>A	ENST00000329758.1	-	8	1412	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	TRIM49_ENST00000532501.2_Missense_Mutation_p.R285W	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	362	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)				TTCTCTTTCCGATACATATTA	0.448000													32	49					0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155217666	155217666	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:155217666G>A	ENST00000361361.2	-	12	2423	c.1914C>T	c.(1912-1914)tcC>tcT	p.S638S	FAM189B_ENST00000350210.2_Silent_p.S542S|FAM189B_ENST00000368368.3_Silent_p.S620S	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	638	Poly-Ser.					integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GACGCCGCAGGGAAGAGCTAG	0.687000													9	7					0	0	1	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802635	31802635	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:31802635C>T	ENST00000334068.2	+	1	64	c.42C>T	c.(40-42)tcC>tcT	p.S14S		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	14						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CCTCCCGCTCCTTTGGGGGCT	0.542000													50	85					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8517990	8517990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:8517990C>T	ENST00000381196.4	-	18	1944	c.1401G>A	c.(1399-1401)atG>atA	p.M467I	PTPRD_ENST00000397617.3_Missense_Mutation_p.M457I|PTPRD_ENST00000540109.1_Missense_Mutation_p.M467I|PTPRD_ENST00000360074.4_Missense_Mutation_p.M454I|PTPRD_ENST00000537002.1_Missense_Mutation_p.M464I|PTPRD_ENST00000358503.5_Missense_Mutation_p.M454I|PTPRD_ENST00000486161.1_Missense_Mutation_p.M467I|PTPRD_ENST00000356435.5_Missense_Mutation_p.M467I|PTPRD_ENST00000355233.5_Missense_Mutation_p.M467I|PTPRD_ENST00000397606.3_Missense_Mutation_p.M457I|PTPRD_ENST00000397611.3_Missense_Mutation_p.M464I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	467	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CATTGTGTTTCATCCAGTTGT	0.408000										TSP Lung(15;0.13)			105	7					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957304	12957304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:12957304G>A	ENST00000276297.4	-	9	2951	c.2542C>T	c.(2542-2544)Cac>Tac	p.H848Y	DLC1_ENST00000520226.1_Missense_Mutation_p.H337Y|DLC1_ENST00000358919.2_Missense_Mutation_p.H411Y|DLC1_ENST00000512044.2_Missense_Mutation_p.H445Y	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	848					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGGCTGATGTGGCCAGGGCCG	0.577000													27	66					0	0	1	0	0
PICK1	9463	broad.mit.edu	37	22	38463714	38463714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:38463714G>T	ENST00000404072.3	+	5	633	c.286G>T	c.(286-288)Gag>Tag	p.E96*	PICK1_ENST00000468288.1_3'UTR|PICK1_ENST00000356976.3_Nonsense_Mutation_p.E96*|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	96	PDZ.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					CTTCCAGGGGGAGGTGACCAT	0.602000													52	4					1.56241e-48	1.59324e-48	1	1	0
OR5AC2	81050	broad.mit.edu	37	3	97806258	97806258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:97806258C>T	ENST00000358642.2	+	1	242	c.242C>T	c.(241-243)cCt>cTt	p.P81L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TCTATAACCCCTAGGATGCTG	0.418000													52	122					0	0	1	0	0
MSS51	118490	broad.mit.edu	37	10	75187946	75187946	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:75187946G>A	ENST00000299432.2	-	2	162	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L	MSS51_ENST00000372912.1_Silent_p.L33L	NM_001024593.1	NP_001019764.1	Q4VC12	ZMY17_HUMAN	MSS51 mitochondrial translational activator	33							zinc ion binding										GAGGGGGTCAGAGGCACAGGG	0.552000													30	24					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15648358	15648358	+	Missense_Mutation	SNP	C	C	T	rs144983869	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:15648358C>T	ENST00000378076.3	-	18	2181	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	610					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AAGGTGGATTCGTCCAAACTG	0.373000													11	27					0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229738377	229738377	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:229738377G>A	ENST00000366675.3	-	4	625	c.537C>T	c.(535-537)ctC>ctT	p.L179L	TAF5L_ENST00000258281.2_Silent_p.L179L|TAF5L_ENST00000366676.1_Silent_p.L179L	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	179					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TGTCACTTTGGAGGTAGCGGA	0.468000													107	90					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32058175	32058175	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:32058175G>A	ENST00000438447.1	+	12	2554	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K	PDZD2_ENST00000282493.3_Silent_p.K722K			O15018	PDZD2_HUMAN	PDZ domain containing 2	722					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGGGCCCAAGGACAGGATCG	0.502000													21	32					0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32410366	32410366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:32410366G>A	ENST00000395388.2	+	2	333	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.R75Q	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	75	Alpha-1.			R -> P (in Ref. 12; AA sequence).	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GAATTTGGACGATTTGCCAGC	0.473000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				69	181					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186277348	186277348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:186277348G>A	ENST00000445192.2	+	7	2542	c.2497G>A	c.(2497-2499)Gag>Aag	p.E833K	PRG4_ENST00000367484.3_Splice_Site_p.E362_splice|PRG4_ENST00000367486.3_Missense_Mutation_p.E790K|PRG4_ENST00000367485.4_Missense_Mutation_p.E740K|PRG4_ENST00000367483.4_Missense_Mutation_p.E792K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	833	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TACCCCCAAGGAGCCTGCACC	0.582000													161	166					0	0	1	0	0
LSMEM1	286006	broad.mit.edu	37	7	112129956	112129956	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:112129956C>T	ENST00000312849.4	+	4	709	c.348C>T	c.(346-348)atC>atT	p.I116I	LSMEM1_ENST00000439068.2_Silent_p.I116I|LSMEM1_ENST00000486022.1_3'UTR	NM_182597.2	NP_872403.1			leucine-rich single-pass membrane protein 1																		ATAACATGATCGTAAAGCGAC	0.373000													48	25					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55573425	55573425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:55573425C>T	ENST00000288135.5	+	6	1184	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	363	Ig-like C2-type 4.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGAAGATTATCCCAAGTCTGA	0.398000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				7	8					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139793219	139793219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:139793219G>A	ENST00000303045.6	-	13	2047	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	COL22A1_ENST00000435777.1_Missense_Mutation_p.S534F	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	534	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGGCCCAGGGAACCCTAAAG	0.532000										HNSCC(7;0.00092)			35	98					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79308781	79308781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:79308781G>A	ENST00000264895.6	+	29	4341	c.3901G>A	c.(3901-3903)Gat>Aat	p.D1301N	FRAS1_ENST00000325942.6_Missense_Mutation_p.D1301N	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1300					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGCACATCCGATGTTGCAGT	0.488000													11	18					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99126278	99126278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:99126278G>A	ENST00000370992.4	-	28	3427	c.3316C>T	c.(3316-3318)Cgg>Tgg	p.R1106W	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.R824W|RRP12_ENST00000414986.1_Missense_Mutation_p.R1045W|RRP12_ENST00000315563.6_Missense_Mutation_p.R1006W	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1106						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		AGCCATGCCCGGCTCCTCTGT	0.607000													46	56					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180374682	180374682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:180374682G>A	ENST00000231229.4	+	4	1078	c.844G>A	c.(844-846)Gga>Aga	p.G282R	BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.G282R|BTNL8_ENST00000400707.3_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	139	B30.2/SPRY.					integral to membrane		p.G282*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCAGGGACAGGATCAGAGAT	0.488000													110	161					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33055774	33055774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:33055774G>A	ENST00000307363.5	-	15	1652	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000445488.2_Missense_Mutation_p.S551F|GLB1_ENST00000399402.3_Missense_Mutation_p.S473F|GLB1_ENST00000307377.8_Missense_Mutation_p.S372F	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	503					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GAGGATATTGGAACTGAGAGT	0.542000													6	25					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77910297	77910297	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:77910297G>A	ENST00000302536.2	+	5	906	c.753G>A	c.(751-753)ttG>ttA	p.L251L	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	251							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						ACATCGTTTTGGATTGCCTCT	0.473000													49	78					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55755466	55755466	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:55755466C>T	ENST00000373965.2	-	22	3226	c.2832G>A	c.(2830-2832)ccG>ccA	p.P944P	PCDH15_ENST00000409834.1_Silent_p.P548P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Silent_p.P915P|PCDH15_ENST00000395430.1_Silent_p.P937P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.P900P|PCDH15_ENST00000395445.1_Silent_p.P944P|PCDH15_ENST00000320301.6_Silent_p.P937P|PCDH15_ENST00000437009.1_Silent_p.P866P|PCDH15_ENST00000361849.3_Silent_p.P937P|PCDH15_ENST00000395438.1_Silent_p.P937P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Silent_p.P942P|PCDH15_ENST00000373955.1_Silent_p.P937P|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	937	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGACTGCATCCGGAGCCACCA	0.393000										HNSCC(58;0.16)			16	29					0	0	1	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46012310	46012310	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:46012310A>G	ENST00000400368.1	-	1	76	c.56T>C	c.(55-57)gTc>gCc	p.V19A	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	19						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGAAGGCAGACGCGGCTGCC	0.672000													4	58					0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145979965	145979965	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:145979965C>T	ENST00000394413.3	-	7	1419	c.849G>A	c.(847-849)tcG>tcA	p.S283S	PPP2R2B_ENST00000453001.1_Silent_p.S283S|PPP2R2B_ENST00000508545.2_Silent_p.S272S|PPP2R2B_ENST00000394409.3_Silent_p.S341S|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000504198.1_Silent_p.S289S|PPP2R2B_ENST00000394414.1_Silent_p.S349S|PPP2R2B_ENST00000394411.4_Silent_p.S283S|PPP2R2B_ENST00000336640.6_Silent_p.S286S|PPP2R2B_ENST00000356826.3_Silent_p.S283S|PPP2R2B_ENST00000394410.2_Silent_p.S272S			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	283					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCCGAAATCGAAGAGATAA	0.428000													30	33					0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571443	71571443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:71571443C>T	ENST00000338482.5	+	3	1206	c.863C>T	c.(862-864)tCc>tTc	p.S288F	CHST4_ENST00000572450.1_Missense_Mutation_p.S288F|CHST4_ENST00000539698.3_Missense_Mutation_p.S288F|ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	288					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GCCCAGACTTCCCGAATGTAT	0.567000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	28					0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72667297	72667297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:72667297G>A	ENST00000373514.2	+	1	208	c.208G>A	c.(208-210)Gga>Aga	p.G70R		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	70						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCCGTCTCTGGGAGTCTGGGG	0.602000													9	9					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70778320	70778320	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:70778320C>T	ENST00000322773.4	+	15	1278	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	COL19A1_ENST00000393344.1_Silent_p.S14S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	392	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CATAGGGTTCCCTGGGGATAC	0.408000													27	3					0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20760987	20760987	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:20760987C>G	ENST00000400451.2	+	5	2178	c.1664C>G	c.(1663-1665)tCg>tGg	p.S555W	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.S523W|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.S555W	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	555					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGGGAGAAGTCGTTTAAGTGT	0.552000													79	9					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7707833	7707833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:7707833C>T	ENST00000338316.4	+	9	1372	c.1283C>T	c.(1282-1284)tCt>tTt	p.S428F	ADCY2_ENST00000537121.1_Missense_Mutation_p.S248F	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	428					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|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GTTCACATTTCTTCTGTCACC	0.388000													21	21					0	0	1	0	0
DBNL	28988	broad.mit.edu	37	7	44096470	44096470	+	Missense_Mutation	SNP	C	C	T	rs145524590		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:44096470C>T	ENST00000494774.1	+	5	463	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	DBNL_ENST00000490734.2_Missense_Mutation_p.R53C|DBNL_ENST00000448521.1_Missense_Mutation_p.R148C|DBNL_ENST00000440166.1_Missense_Mutation_p.R45C|DBNL_ENST00000452943.1_Missense_Mutation_p.R123C|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Missense_Mutation_p.R148C	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	148					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GGAGAGTGGCCGCTTCCAGGA	0.617000													13	80					0	0	1	0	0
GLYR1	84656	broad.mit.edu	37	16	4867659	4867659	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:4867659G>A	ENST00000321919.9	-	10	922	c.846C>T	c.(844-846)atC>atT	p.I282I	GLYR1_ENST00000381983.3_Silent_p.I265I|GLYR1_ENST00000436648.5_Silent_p.I201I|GLYR1_ENST00000591451.1_Silent_p.I282I	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	282					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						AGTTGGAGACGATTCCACTTC	0.502000													55	62					0	0	1	0	0
CUL4A	8451	broad.mit.edu	37	13	113898732	113898732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:113898732G>A	ENST00000451881.1	+	12	1186	c.937G>A	c.(937-939)Gtg>Atg	p.V313M	CUL4A_ENST00000375440.4_Missense_Mutation_p.V413M|CUL4A_ENST00000326335.4_Missense_Mutation_p.V313M|CUL4A_ENST00000375441.3_Missense_Mutation_p.V313M	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	413					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AGCAAAGCATGTGGATTCAAA	0.408000													6	29					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107524289	107524289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:107524289C>T	ENST00000416476.2	+	17	2022	c.1802C>T	c.(1801-1803)cCt>cTt	p.P601L	BBX_ENST00000415149.2_Silent_p.S907S|BBX_ENST00000325805.8_Silent_p.S937S|BBX_ENST00000402543.1_Silent_p.S887S|BBX_ENST00000406780.1_Silent_p.S907S			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TACTTATTTCCTGCGCTGACC	0.473000													29	59					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110503324	110503324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:110503324G>A	ENST00000378402.5	+	61	10212	c.10108G>A	c.(10108-10110)Ggg>Agg	p.G3370R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3370					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTTACAGTGGGGGAAGGTAA	0.393000										HNSCC(38;0.096)			24	74					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123485331	123485331	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:123485331G>A	ENST00000280562.5	-	9	1423	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Silent_p.I406I|PITPNM2_ENST00000320201.4_Silent_p.I406I|PITPNM2_ENST00000392428.1_Silent_p.I127I|PITPNM2_ENST00000546049.1_Silent_p.I444I			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	406					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCACCTCTATGATGTTCAGCT	0.617000													15	29					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44610893	44610893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:44610893C>T	ENST00000336976.6	+	6	834	c.580C>T	c.(580-582)Cat>Tat	p.H194Y	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	194					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)				CCTTCGTATTCATCAGAGAGT	0.423000													42	82					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156509647	156509647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:156509647G>A	ENST00000361170.2	-	24	2885	c.2875C>T	c.(2875-2877)Ctc>Ttc	p.L959F		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	959					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGTAGAAGAGGTGTTGGTAT	0.488000													38	69					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107863518	107863518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:107863518G>A	ENST00000328300.6	+	31	2783	c.2539G>A	c.(2539-2541)Gat>Aat	p.D847N	COL4A5_ENST00000361603.2_Missense_Mutation_p.D847N	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	847	Triple-helical region.				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						AGAGAAGGGGGATCCAGGACC	0.458000									Alport syndrome with Diffuse Leiomyomatosis				40	6					0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7727904	7727904	+	RNA	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:7727904C>T	ENST00000454689.1	-	0	37				RP11-35J10.4_ENST00000527443.1_RNA|RP11-35J10.5_ENST00000527565.1_lincRNA|OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		AAAGACTATTCCTAGTAGTAA	0.363000													5	1					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43381975	43381975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:43381975C>T	ENST00000296088.7	+	5	1232	c.928C>T	c.(928-930)Cga>Tga	p.R310*	SNRK_ENST00000454177.1_Nonsense_Mutation_p.R310*|SNRK_ENST00000437827.1_Nonsense_Mutation_p.R104*|SNRK_ENST00000429705.2_Nonsense_Mutation_p.R310*	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	310	UBA.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CATAGCGGATCGAGACGCCAT	0.483000													17	32					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26690042	26690042	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:26690042G>A	ENST00000272371.2	-	35	4413	c.4287C>T	c.(4285-4287)ttC>ttT	p.F1429F	OTOF_ENST00000402415.3_Silent_p.F739F|OTOF_ENST00000338581.6_Silent_p.F662F|OTOF_ENST00000339598.3_Silent_p.F662F|OTOF_ENST00000403946.3_Silent_p.F1429F	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1429					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGCAAGTTGAAAGTGTGCA	0.597000													50	40					0	0	1	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518850	106518850	+	RNA	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:106518850C>T	ENST00000390598.2	-	0	82																											AGCCCCAATTCCATGGTGAGT	0.498000													41	71					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166935709	166935709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:166935709C>T	ENST00000061240.2	+	8	1686	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	TLL1_ENST00000513213.1_Missense_Mutation_p.P347S|TLL1_ENST00000507499.1_Missense_Mutation_p.P347S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	347	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTATAGATGTCCAGGTATTGC	0.453000													58	64					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17084510	17084510	+	RNA	SNP	G	G	A	rs61769731	by1000genomes	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:17084510G>A	ENST00000455405.2	-	0	379																		p.L525L(2)|p.L530L(2)									ACCCGCTGTAGGCCTGGCTCT	0.577000													15	37					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41072173	41072173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:41072173G>A	ENST00000352632.3	+	30	6330	c.6244G>A	c.(6244-6246)Gag>Aag	p.E2082K	SPTBN4_ENST00000392025.1_Missense_Mutation_p.E825K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E2082K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E2082K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2082					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGCGTGGATGAGGTGGAGCA	0.667000													3	5					0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42818719	42818719	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:42818719C>T	ENST00000315005.3	+	10	867	c.729C>T	c.(727-729)ttC>ttT	p.F243F	DBF4B_ENST00000398338.3_Intron|DBF4B_ENST00000393547.2_Silent_p.F243F	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	243					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TTCGTCCTTTCCATCATCAGT	0.493000													47	44					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97862340	97862340	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:97862340G>A	ENST00000420699.2	+	41	2806	c.2562G>A	c.(2560-2562)caG>caA	p.Q854Q	ANKRD36_ENST00000461153.2_Silent_p.Q854Q	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	854										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TGTCTTCTCAGAAACCACCAA	0.333000													6	25					0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129658543	129658543	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:129658543G>A	ENST00000358303.4	-	10	1554	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000311873.5_Silent_p.F469F|ZC3HC1_ENST00000360708.5_Silent_p.F419F|ZC3HC1_ENST00000481503.1_Silent_p.F447F|RP11-306G20.1_ENST00000480018.1_RNA	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	490					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GAAATATTCGGAATACTTTCC	0.393000													11	64					0	0	1	0	0
PRUNE	58497	broad.mit.edu	37	1	150998085	150998085	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:150998085C>T	ENST00000271620.3	+	5	771	c.615C>T	c.(613-615)ttC>ttT	p.F205F	PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000271619.8_Silent_p.F46F|PRUNE_ENST00000368937.1_Silent_p.F23F|PRUNE_ENST00000368934.1_Silent_p.F23F|PRUNE_ENST00000368936.1_Silent_p.F23F	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	205						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGCCCTTTTCCCAGACCTAC	0.428000													37	104					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183510133	183510133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:183510133C>T	ENST00000367537.3	+	14	1592	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	SMG7_ENST00000515829.2_Missense_Mutation_p.S437F|SMG7_ENST00000456731.2_Missense_Mutation_p.S395F|SMG7_ENST00000508461.1_Missense_Mutation_p.S395F|SMG7_ENST00000507469.1_Missense_Mutation_p.S437F|SMG7_ENST00000347615.2_Missense_Mutation_p.S437F			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	437					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTGGATTTTTCCAAAGGTCAC	0.393000													44	41					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886706	3886706	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:3886706G>A	ENST00000319331.3	+	2	1142	c.381G>A	c.(379-381)gaG>gaA	p.E127E	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	127						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGCATTTGGAGGAAAATCAGA	0.418000													15	27					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43262464	43262464	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:43262464C>T	ENST00000255226.6	+	20	3559	c.2743C>T	c.(2743-2745)Cag>Tag	p.Q915*	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Nonsense_Mutation_p.Q915*|SLC14A2_ENST00000589658.1_Nonsense_Mutation_p.Q392*	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	915						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AACAAAGTATCAGGCCTACGA	0.498000													38	50					0	0	1	0	0
OLA1	29789	broad.mit.edu	37	2	174988343	174988343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:174988343G>A	ENST00000284719.3	-	6	856	c.610C>T	c.(610-612)Cat>Tat	p.H204Y	OLA1_ENST00000428402.2_Missense_Mutation_p.H204Y|OLA1_ENST00000409546.1_Missense_Mutation_p.H224Y|OLA1_ENST00000344357.5_Missense_Mutation_p.H46Y|OLA1_ENST00000392560.2_5'UTR	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	204					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TTCCAATCATGATAGAAGCGA	0.313000													41	44					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45312509	45312509	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:45312509A>G	ENST00000313237.5	-	4	365	c.213_splice	c.e4-1	p.V72_splice	PHF21B_ENST00000404079.2_Splice_Site_p.V60_splice|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000396103.3_Splice_Site_p.V72_splice|PHF21B_ENST00000447824.3_Splice_Site_p.V60_splice	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	72							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTTTGGCCTAACCTGGGAAGA	0.627000													74	4					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39871305	39871305	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:39871305C>T	ENST00000314471.6	+	13	2763	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	SAMD4B_ENST00000598913.1_Silent_p.F576F|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	576							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	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;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AGCGGCAGTTCCCAATGCCTC	0.692000													29	21					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166905439	166905439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:166905439C>T	ENST00000423058.2	-	7	1002	c.985G>A	c.(985-987)Ggt>Agt	p.G329S	SCN1A_ENST00000303395.4_Missense_Mutation_p.G329S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G329S|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G329S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	329						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTAAAAAACCCTCCAGGAAA	0.338000													14	22					0	0	1	0	0
ALDH3A2	224	broad.mit.edu	37	17	19559734	19559734	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:19559734A>G	ENST00000176643.6	+	4	973	c.527A>G	c.(526-528)cAg>cGg	p.Q176R	ALDH3A2_ENST00000581518.1_Missense_Mutation_p.Q176R|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.Q176R|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.Q176R|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.Q176R			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	176					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	CTCCTGAAGCAGCGATTTGAC	0.448000													13	31					0	0	1	0	0
DNAJC24	120526	broad.mit.edu	37	11	31436427	31436427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:31436427G>A	ENST00000536040.1	+	3	270	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	DNAJC24_ENST00000465995.1_Missense_Mutation_p.E61K			Q6P3W2	DJC24_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 24	60	J.				protein folding		heat shock protein binding|metal ion binding|unfolded protein binding	p.E61K(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						GAAGTTCATCGAAATTGATCA	0.448000													26	3					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323387	152323387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:152323387C>T	ENST00000388718.5	-	3	6947	c.6875G>A	c.(6874-6876)gGg>gAg	p.G2292E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2292							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCAGTCTCCCATGAACTGT	0.493000													132	158					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008840	120008840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:120008840C>T	ENST00000371311.3	-	1	939	c.685G>A	c.(685-687)Gag>Aag	p.E229K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	229										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						gcggcctcctctgGGGGTTTC	0.701000													72	8					0	0	1	0	0
PRCD	768206	broad.mit.edu	37	17	74538642	74538642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:74538642G>A	ENST00000586148.1	+	3	203	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	PRCD_ENST00000592014.1_Missense_Mutation_p.E51K|PRCD_ENST00000592432.1_3'UTR|CYGB_ENST00000589145.1_Intron			Q00LT1	PRCD_HUMAN	progressive rod-cone degeneration	51					response to stimulus|visual perception	cytoplasm|integral to membrane											TAGGGAGAAAGAACCTCTGAA	0.587000													9	24					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502518	90502518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:90502518G>A	ENST00000325643.5	+	4	3182	c.3116G>A	c.(3115-3117)gGg>gAg	p.G1039E		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CTGAAAGTGGGGGAGAAGCCC	0.607000													96	12					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207516588	207516588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:207516588G>A	ENST00000452335.2	-	12	1807	c.1691C>T	c.(1690-1692)gCc>gTc	p.A564V		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	564						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GGCAGAGAAGGCCCTGCACAC	0.478000													25	44					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10032312	10032312	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:10032312G>A	ENST00000378380.3	+	7	1974	c.1643_splice	c.e7-1	p.A549_splice	ANKEF1_ENST00000378392.1_Splice_Site_p.A549_splice|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		ATTTTACAGAGCTAACGTTAA	0.368000													11	32					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20568699	20568699	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:20568699T>C	ENST00000377252.3	+	14	2382	c.1541T>C	c.(1540-1542)gTt>gCt	p.V514A	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.V465A	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	514						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TATGCTGAAGTTGAACCAGTT	0.418000													19	29					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650545	55650545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:55650545C>T	ENST00000339140.3	+	1	713	c.401C>T	c.(400-402)tCc>tTc	p.S134F		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	134					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGCCATCTTCCTCCAGTGAG	0.507000													16	4					0	0	1	0	0
CTBP1-AS2	92070	broad.mit.edu	37	4	1244947	1244947	+	RNA	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:1244947G>A	ENST00000581398.1	+	0	901				CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA	NR_033339.1																						CGGCCCGTCTGTCCACTGTCC	0.577000													5	11					0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773711	35773711	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:35773711C>T	ENST00000360215.1	+	1	641	c.264C>T	c.(262-264)tcC>tcT	p.S88S	LHFPL5_ENST00000373853.1_Silent_p.S88S	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	88						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACTTCTCCTCCATCCCCTCTA	0.557000													87	279					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220315224	220315224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:220315224C>T	ENST00000366922.1	+	20	2609	c.2278C>T	c.(2278-2280)Cgt>Tgt	p.R760C	IARS2_ENST00000302637.5_Missense_Mutation_p.R832C|IARS2_ENST00000467924.1_3'UTR			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	832					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTAATAGTTCGTTCTTTTGC	0.378000													37	105					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42485983	42485983	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:42485983C>T	ENST00000545399.1	-	10	1385	c.1231_splice	c.e10-1	p.G411_splice	ATP1A3_ENST00000302102.5_Splice_Site_p.G398_splice|ATP1A3_ENST00000543770.1_Splice_Site_p.G409_splice|ATP1A3_ENST00000602133.1_Splice_Site_p.G368_splice	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	398					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						AAATGAGGTCCCTGGGGGAGG	0.632000													25	62					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38881674	38881674	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:38881674G>A	ENST00000359357.3	+	65	9512	c.9258G>A	c.(9256-9258)caG>caA	p.Q3086Q	DNAH8_ENST00000441566.1_Silent_p.Q3050Q|DNAH8_ENST00000449981.2_Silent_p.Q3303Q					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						AACTCTCTCAGGATCTTGCAG	0.378000													11	57					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29049078	29049078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:29049078G>A	ENST00000257189.4	+	12	1746	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	555					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAGCCCAGGAACAGATACC	0.473000													61	76					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228678	21228678	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:21228678G>A	ENST00000233242.1	-	26	11189	c.11062C>T	c.(11062-11064)Cta>Tta	p.L3688L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3688					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)	TCCAGCTTTAGGAAATCCCAT	0.433000													216	417					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167245788	167245788	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:167245788G>A	ENST00000308378.3	-	11	1673	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	WDR49_ENST00000476376.1_Silent_p.S281S|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	456										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGTTCTTACTGGAGTTAAGAC	0.373000													17	43					0	0	1	0	0
SPON2	10417	broad.mit.edu	37	4	1165156	1165156	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:1165156C>T	ENST00000290902.5	-	3	671	c.339G>A	c.(337-339)gcG>gcA	p.A113A	SPON2_ENST00000431380.1_Silent_p.A113A	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	113	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		GCGCCTCCCCCGCCGCCTCGA	0.692000													30	17					0	0	1	0	0
MYL4	4635	broad.mit.edu	37	17	45299745	45299745	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:45299745G>A	ENST00000354968.1	+	6	615		c.e6-1		MYL4_ENST00000572316.1_Splice_Site|MYL4_ENST00000393450.1_Splice_Site	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic						cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						ACCCACCGCAGGAGAGAAGAT	0.522000													21	35					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48426627	48426627	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:48426627C>T	ENST00000224605.2	-	3	1645	c.1380G>A	c.(1378-1380)cgG>cgA	p.R460R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	460					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GAACCACATTCCGATTCTCAT	0.587000											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	75					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777764	183777764	+	Silent	SNP	G	G	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:183777764G>T	ENST00000318351.1	+	8	1108	c.1074G>T	c.(1072-1074)ggG>ggT	p.G358G		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	358						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCAGCCCAGGGAGATGCTGTC	0.632000													18	27					1.33834e-09	1.34795e-09	1	1	0
SMCHD1	23347	broad.mit.edu	37	18	2740736	2740736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:2740736C>T	ENST00000320876.6	+	28	3888	c.3550C>T	c.(3550-3552)Caa>Taa	p.Q1184*	SMCHD1_ENST00000261598.8_Nonsense_Mutation_p.Q1184*|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1184					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAATCAGATTCAAGCATTTTC	0.299000													28	30					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2578260	2578260	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:2578260C>T	ENST00000302956.4	+	7	835	c.741C>T	c.(739-741)atC>atT	p.I247I	AMDHD2_ENST00000565570.1_Intron|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000293971.6_Silent_p.I247I|AMDHD2_ENST00000413459.3_Silent_p.I247I			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	247					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						ACCCAGGCATCGTGGGGCTCC	0.711000													25	66					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113928238	113928238	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:113928238G>A	ENST00000348367.4	-	11	1136	c.939C>T	c.(937-939)ttC>ttT	p.F313F	GPAM_ENST00000423155.1_Silent_p.F313F|GPAM_ENST00000369425.1_Silent_p.F313F			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	313					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGCCTTCCAGGAAGATCTCCA	0.423000													29	34					0	0	1	0	0
SLC41A3	54946	broad.mit.edu	37	3	125727714	125727714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:125727714G>A	ENST00000383598.2	-	9	1322	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	SLC41A3_ENST00000346785.5_Missense_Mutation_p.S336F|SLC41A3_ENST00000315891.6_Missense_Mutation_p.S372F|SLC41A3_ENST00000508835.1_Missense_Mutation_p.S255F|SLC41A3_ENST00000360370.4_Missense_Mutation_p.S372F	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	372						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGCTGACATGGAATTGATTTC	0.498000													29	48					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45633577	45633577	+	Missense_Mutation	SNP	C	C	T	rs146151355		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:45633577C>T	ENST00000267430.5	+	10	1682	c.1597C>T	c.(1597-1599)Cgt>Tgt	p.R533C	FANCM_ENST00000556036.1_Missense_Mutation_p.R533C|FANCM_ENST00000542564.2_Missense_Mutation_p.R507C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	533	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAACAGTTTCGTGACGGTGG	0.363000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				17	17					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41546047	41546047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:41546047G>A	ENST00000396942.1	-	34	4248	c.4165C>T	c.(4165-4167)Ctc>Ttc	p.L1389F	ANK1_ENST00000347528.4_Missense_Mutation_p.L1389F|ANK1_ENST00000289734.7_Missense_Mutation_p.L1389F|ANK1_ENST00000265709.8_Missense_Mutation_p.L1430F|ANK1_ENST00000396945.1_Missense_Mutation_p.L1389F|ANK1_ENST00000352337.4_Missense_Mutation_p.L1389F|ANK1_ENST00000379758.2_Missense_Mutation_p.L1389F			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1389	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GACTCACTGAGAATGCTGTAT	0.587000													26	38					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096720	107096720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:107096720G>A	ENST00000261058.1	+	1	533	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	96										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AAAAGTCCAGGAAAAGACTGA	0.368000													24	15					0	0	1	0	0
CXCL12	6387	broad.mit.edu	37	10	44873215	44873215	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:44873215G>A	ENST00000395794.2	-	4	448	c.405C>T	c.(403-405)ccC>ccT	p.P135P	CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000395793.3_Intron	NM_001178134.1	NP_001171605.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CCCCAGGAGAGGGCCAGCTCC	0.562000													8	15					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172579020	172579020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:172579020C>T	ENST00000367723.3	+	23	3966	c.3842C>T	c.(3841-3843)cCc>cTc	p.P1281L	SUCO_ENST00000263688.3_Missense_Mutation_p.P1129L	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CCATTGCACCCCATAGCCAAT	0.373000													22	67					0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899650	128899650	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:128899650C>T	ENST00000435159.2	+	2	459	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	153						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TTTTCCACATCATGGGCAGAG	0.557000													6	10					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10473044	10473044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:10473044G>A	ENST00000525621.1	-	11	2046	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	TYK2_ENST00000529370.1_Missense_Mutation_p.S522F|TYK2_ENST00000524462.1_Missense_Mutation_p.S337F|TYK2_ENST00000264818.6_Missense_Mutation_p.S522F	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	522	SH2; atypical.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTGGGGAAGGACCGGCCCCA	0.662000													11	23					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94140254	94140254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:94140254G>A	ENST00000370244.1	-	4	521	c.233C>T	c.(232-234)tCc>tTc	p.S78F	BCAR3_ENST00000370243.1_Missense_Mutation_p.S78F|BCAR3_ENST00000260502.6_Missense_Mutation_p.S78F	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	78					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTGCCGTGGGGATTTGGAGTG	0.552000													23	3					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24873931	24873931	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:24873931G>A	ENST00000259698.4	-	3	373	c.198C>T	c.(196-198)ccC>ccT	p.P66P	FAM65B_ENST00000540914.1_Silent_p.P66P|FAM65B_ENST00000538035.1_Silent_p.P95P|FAM65B_ENST00000378023.4_Silent_p.P66P|FAM65B_ENST00000510784.2_Silent_p.P100P	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	66	Involved in cell filopodia formation.				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GAGGCTCTTTGGGGGGATTGT	0.428000													52	107					0	0	1	0	0
AC008268.2	0	broad.mit.edu	37	2	96458262	96458262	+	RNA	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:96458262C>T	ENST00000471661.1	+	0	280																											CTTTGTGGGTCGCTGTTGCCA	0.607000													16	28					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272240	158272240	+	Silent	SNP	T	T	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:158272240T>C	ENST00000264192.3	-	8	1150	c.1029A>G	c.(1027-1029)aaA>aaG	p.K343K	CYTIP_ENST00000540637.1_Silent_p.K237K	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	343					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CAGGGATAAATTTCAAGAGTT	0.473000													36	27					0	0	1	0	0
ACP1	52	broad.mit.edu	37	2	272154	272154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:272154C>T	ENST00000407983.3	+	3	300	c.235C>T	c.(235-237)Ccg>Tcg	p.P79S	ACP1_ENST00000439645.2_Intron|ACP1_ENST00000484464.1_Intron|ACP1_ENST00000272065.5_Intron|ACP1_ENST00000272067.6_Intron|ACP1_ENST00000405233.1_Intron	NM_001040649.2	NP_001035739.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	79						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		CCGGCAGGTACCGTCCTTGGA	0.577000													20	38					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175859	51175859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:51175859C>T	ENST00000251020.4	-	2	307	c.274G>A	c.(274-276)Gat>Aat	p.D92N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	92					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)			TCAGGATTATCAGGAGGGGGG	0.443000													66	77					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109438085	109438085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:109438085G>A	ENST00000356711.2	+	5	670	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	MYO16_ENST00000467639.1_3'UTR|MYO16_ENST00000251041.5_Missense_Mutation_p.E182K|MYO16_ENST00000357550.2_Missense_Mutation_p.E182K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	182					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)			CTATCTGGATGAAAATGGTAG	0.373000													29	61					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37028483	37028483	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:37028483G>A	ENST00000379242.3	+	13	1400	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	VIT_ENST00000379241.3_Silent_p.T329T|VIT_ENST00000401530.1_Silent_p.T330T|VIT_ENST00000389975.3_Silent_p.T351T|VIT_ENST00000497382.1_Silent_p.T20T|VIT_ENST00000404084.1_Silent_p.T303T	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	351	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGACACACACGAATTCTCGAG	0.393000													115	92					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133393301	133393301	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:133393301G>A	ENST00000204726.3	-	3	789	c.231C>T	c.(229-231)gaC>gaT	p.D77D	GOLGA3_ENST00000456883.2_Silent_p.D77D|GOLGA3_ENST00000450791.2_Silent_p.D77D|GOLGA3_ENST00000537452.1_Silent_p.D77D|GOLGA3_ENST00000545875.1_Silent_p.D77D	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	77	Pro-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		ACGACGGAGGGTCTGGGAAGG	0.612000													23	34					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199026	155199026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:155199026G>A	ENST00000460012.1	-	23	5056	c.4699C>T	c.(4699-4701)Cca>Tca	p.P1567S	PLCH1_ENST00000340059.7_Missense_Mutation_p.P1605S|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.P1567S|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1567S			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1605					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGGGGTTTGGAACTTTCTGC	0.547000													67	61					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83251022	83251022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:83251022G>A	ENST00000566620.1	+	5	846	c.556G>A	c.(556-558)Gga>Aga	p.G186R	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.G233R|CDH13_ENST00000428848.3_Missense_Mutation_p.G147R	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	186	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGAGCCTAAAGGAATTTTCAG	0.473000													44	37					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137901	56137901	+	Missense_Mutation	SNP	G	G	A	rs11552146	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:56137901G>A	ENST00000319441.4	+	4	720	c.556G>A	c.(556-558)Gat>Aat	p.D186N	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.D54N	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	186					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGCAGTGGGCGATGGGGAGTT	0.502000													17	26					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13670698	13670698	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:13670698C>T	ENST00000404922.3	+	13	2867	c.2748C>T	c.(2746-2748)tgC>tgT	p.C916C	FBLN2_ENST00000492059.1_Silent_p.C916C|FBLN2_ENST00000295760.7_Silent_p.C869C|FBLN2_ENST00000535798.1_Silent_p.C895C	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	912	EGF-like 7; calcium-binding.					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)			TGCACCGCTGCGGTGAGGGCC	0.647000													14	33					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29904717	29904717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:29904717C>T	ENST00000256062.5	-	5	969	c.496G>A	c.(496-498)Ggg>Agg	p.G166R	TMTC1_ENST00000552618.1_Missense_Mutation_p.G274R|TMTC1_ENST00000539277.1_Missense_Mutation_p.G274R|TMTC1_ENST00000381224.2_Missense_Mutation_p.G166R|TMTC1_ENST00000551659.1_Missense_Mutation_p.G274R	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	274						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGCTGCTTCCCATTCTCCCGG	0.647000													12	9					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717286	142717286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:142717286C>T	ENST00000381779.4	-	2	1864	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	SLITRK4_ENST00000356928.1_Missense_Mutation_p.E547K|SLITRK4_ENST00000338017.4_Missense_Mutation_p.E547K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	547	LRRCT 2.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAACTTCTCCACCCACAGC	0.458000													65	15					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040504	103040504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:103040504C>T	ENST00000264260.2	+	4	893	c.304C>T	c.(304-306)Cct>Tct	p.P102S	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	102					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						GAAAAGCTATCCTCACATCAT	0.428000													21	36					0	0	1	0	0
PDHB	5162	broad.mit.edu	37	3	58417666	58417666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:58417666C>A	ENST00000302746.6	-	3	184	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	PDHB_ENST00000485460.1_Nonsense_Mutation_p.E48*|PDHB_ENST00000474765.1_Nonsense_Mutation_p.E30*	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	48					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	TCATCTCTTTCCAGCTCCTCA	0.388000													23	22					3.28513e-13	3.32577e-13	1	1	0
MYCBPAP	84073	broad.mit.edu	37	17	48608750	48608750	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:48608750C>T	ENST00000323776.5	+	19	3078	c.2916C>T	c.(2914-2916)ccC>ccT	p.P972P	MYCBPAP_ENST00000436259.2_3'UTR	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	935					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGCTCAGCCCCATAAAGAATG	0.522000													17	21					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126075832	126075832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:126075832G>A	ENST00000318410.7	-	11	1689	c.1340C>T	c.(1339-1341)tCg>tTg	p.S447L	KIAA0196_ENST00000517845.1_Missense_Mutation_p.S299L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	447					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATCCGCTCCGAACCCTCTTT	0.388000													50	31					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211459282	211459282	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:211459282C>T	ENST00000233072.5	+	12	1411	c.1215C>T	c.(1213-1215)acC>acT	p.T405T	CPS1_ENST00000430249.2_Silent_p.T411T|CPS1_ENST00000451903.2_5'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	405					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAGCTACCACCATTACATCAG	0.378000													17	27					0	0	1	0	0
OCM	654231	broad.mit.edu	37	7	5922207	5922207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:5922207C>T	ENST00000242104.5	+	2	237	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	OCM_ENST00000416608.1_Missense_Mutation_p.R49W	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin	49	EF-hand 1.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		GGATGTTTTCCGGTTCATAGA	0.493000													12	75					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156362	155156362	+	Missense_Mutation	SNP	C	C	T	rs143523763		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:155156362C>T	ENST00000357232.3	-	25	8076	c.8077G>A	c.(8077-8079)Gaa>Aaa	p.E2693K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2693					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACATCAGTTTCCCCAGATAGG	0.547000													25	42					0	0	1	0	0
LAYN	143903	broad.mit.edu	37	11	111420398	111420398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:111420398C>T	ENST00000375614.2	+	3	775	c.439C>T	c.(439-441)Cat>Tat	p.H147Y	LAYN_ENST00000525126.1_Missense_Mutation_p.H155Y|LAYN_ENST00000436913.2_Intron|LAYN_ENST00000528924.1_Intron|LAYN_ENST00000533265.1_Missense_Mutation_p.H147Y|LAYN_ENST00000375615.3_Missense_Mutation_p.H155Y	NM_178834.4	NP_849156.1	Q6UX15	LAYN_HUMAN	layilin	155	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GGTCATGTACCATCAGCCATC	0.532000													37	8					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242021733	242021733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:242021733G>A	ENST00000310397.8	+	29	4075	c.4075G>A	c.(4075-4077)Gag>Aag	p.E1359K	SNED1_ENST00000405547.3_Missense_Mutation_p.E1326K|SNED1_ENST00000342631.6_Missense_Mutation_p.E1326K	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1359					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCTGTTCTCCGAGACAAAGGC	0.582000													64	159					0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100105279	100105279	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:100105279T>A	ENST00000372966.3	-	9	1199	c.994A>T	c.(994-996)Atc>Ttc	p.I332F	NOX1_ENST00000372960.4_Missense_Mutation_p.I295F|NOX1_ENST00000217885.5_Missense_Mutation_p.I332F|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	332	FAD-binding FR-type.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						AGGAGAGAGATTGAGGGGCAA	0.458000													12	5					0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43967920	43967920	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:43967920G>A	ENST00000244333.3	-	3	301	c.211_splice	c.e3-1	p.I71_splice		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	71	UPAR/Ly6 1.					anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ATTGTCCGTGGACTAGGGAGA	0.642000													24	12					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800608	70800608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:70800608C>T	ENST00000333538.5	+	2	945	c.311C>T	c.(310-312)tCc>tTc	p.S104F	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	104						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCTACTCTTTCCCCGGCTGAA	0.463000													53	14					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132439841	132439841	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:132439841C>A	ENST00000370828.3	-	6	1638	c.1114G>T	c.(1114-1116)Gaa>Taa	p.E372*	GPC4_ENST00000535467.1_Nonsense_Mutation_p.E302*	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	372					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.E372K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTTGGGCGTTCCTCGGGGTGA	0.552000													130	24					3.13773e-49	3.20297e-49	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3229544	3229544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:3229544G>A	ENST00000217939.6	-	7	6854	c.6700C>T	c.(6700-6702)Ctc>Ttc	p.L2234F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2234	Ig-like C2-type 6.					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)				TCCACTTTGAGCACCACGTAG	0.512000													33	4					0	0	1	0	0
MYL3	4634	broad.mit.edu	37	3	46901047	46901047	+	Silent	SNP	G	G	A	rs112992334		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:46901047G>A	ENST00000395869.1	-	4	450	c.399C>T	c.(397-399)ttC>ttT	p.F133F	MYL3_ENST00000292327.4_Silent_p.F133F			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	133	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		GCCCCTCCACGAAGTCCTCAT	0.567000													56	90					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10084991	10084991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:10084991G>A	ENST00000264828.3	-	46	3521	c.3436C>T	c.(3436-3438)Cct>Tct	p.P1146S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1146	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)			AGTCCAGGAGGGCCAATCACC	0.627000													11	56					0	0	1	0	0
DLEU7	220107	broad.mit.edu	37	13	51417402	51417402	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:51417402C>T	ENST00000400393.3	-	1	673	c.381G>A	c.(379-381)tcG>tcA	p.S127S	DLEU7-AS1_ENST00000413510.2_RNA|DLEU7_ENST00000504404.1_Silent_p.S127S	NM_198989.2	NP_945340.2	Q6UYE1	LEU7_HUMAN	deleted in lymphocytic leukemia, 7	127													Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.25e-08)		GCTCCGAAGTCGAGTCCACCA	0.716000													14	22					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134942990	134942990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:134942990C>T	ENST00000607359.1	+	16	3815	c.3815C>T	c.(3814-3816)cCc>cTc	p.P1272L	GPR123_ENST00000392606.2_Missense_Mutation_p.P456L|GPR123_ENST00000392607.3_Missense_Mutation_p.P553L			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	553						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGAACGGGACCCTGGAAAAAC	0.607000													7	17					0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209880108	209880108	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:209880108A>C	ENST00000367028.2	+	4	443	c.274A>C	c.(274-276)Acc>Ccc	p.T92P	RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Missense_Mutation_p.T92P|HSD11B1_ENST00000261465.1_Missense_Mutation_p.T92P	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	92					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	CATTGCTGGCACCATGGAAGA	0.512000													108	158					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6013459	6013459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:6013459G>A	ENST00000259569.5	-	1	2159	c.2149C>T	c.(2149-2151)Cct>Tct	p.P717S		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	717					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TTCAGTAAAGGAACCATCAGC	0.423000													72	7					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542773	14542773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:14542773C>T	ENST00000358970.5	-	1	372	c.373G>A	c.(373-375)Gac>Aac	p.D125N	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	125										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGGCGCTGTCGTCGTAGTCT	0.607000													34	69					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86506257	86506257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:86506257G>A	ENST00000297814.2	-	6	1905	c.1762C>T	c.(1762-1764)Cat>Tat	p.H588Y	KIF27_ENST00000334204.2_Missense_Mutation_p.H588Y|KIF27_ENST00000413982.1_Missense_Mutation_p.H588Y	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	588					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGCCCCAAATGAGTATCAAAT	0.373000													48	11					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47685067	47685067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:47685067G>A	ENST00000283303.2	+	8	2272	c.2014G>A	c.(2014-2016)Ggg>Agg	p.G672R	GPR115_ENST00000371220.1_Missense_Mutation_p.G729R|GPR115_ENST00000327753.3_Missense_Mutation_p.G672R	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	672					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTCACTGAAGGGGAAATCGAG	0.468000													68	185					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193180586	193180586	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:193180586C>T	ENST00000342695.4	-	13	1810	c.1488G>A	c.(1486-1488)ttG>ttA	p.L496L	ATP13A4_ENST00000295548.3_Silent_p.L496L|ATP13A4_ENST00000392443.3_Silent_p.L477L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	496					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)		CCCAGAGGTCCAAGCCGTCCC	0.478000													18	51					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942794	11942794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:11942794C>T	ENST00000304060.5	+	4	967	c.803C>T	c.(802-804)cCc>cTc	p.P268L		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTTCATAGTCCCAGATCCTAT	0.393000													26	15					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33409463	33409463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:33409463C>T	ENST00000418600.2	+	13	2322	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P741S|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P682S	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	741					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAGTGAGCGGCCCCGGCCTCA	0.652000													7	90					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051295	17051295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:17051295C>T	ENST00000418129.2	+	2	544	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	PLCL2_ENST00000396755.2_Missense_Mutation_p.R27C|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000432376.1_Missense_Mutation_p.R27C	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	153	Gly-rich.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAAAAAGGTTCGCTCCAACTC	0.418000													22	11					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28541467	28541467	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:28541467G>A	ENST00000452236.2	-	4	2816	c.2199C>T	c.(2197-2199)ttC>ttT	p.F733F		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	733					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.F733F(1)		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						atttccgagtgaaactagcat	0.338000													35	29					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30955419	30955419	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:30955419C>T	ENST00000295055.8	-	20	1988	c.1812G>A	c.(1810-1812)ggG>ggA	p.G604G	CAPN13_ENST00000534090.2_Silent_p.G604G	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	604					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)					TGATGAAGATCCCTCTGAGGA	0.617000													10	15					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71129366	71129366	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:71129366C>T	ENST00000448642.2	+	12	1355	c.966C>T	c.(964-966)aaC>aaT	p.N322N	HK1_ENST00000298649.3_Silent_p.N286N|HK1_ENST00000359426.6_Silent_p.N287N|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Silent_p.N291N|HK1_ENST00000360289.2_Silent_p.N275N			P19367	HXK1_HUMAN	hexokinase 1	287	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GATCCCTCAACCCTGGAAAAC	0.463000													9	15					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102517984	102517984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:102517984C>T	ENST00000393772.2	-	16	1991	c.1565G>A	c.(1564-1566)gGa>gAa	p.G522E	FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.G522E|FBXL13_ENST00000436908.1_Missense_Mutation_p.G522E|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000313221.4_Missense_Mutation_p.G522E|FBXL13_ENST00000379305.3_Missense_Mutation_p.G522E|FBXL13_ENST00000379308.3_Missense_Mutation_p.G522E			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	522										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ATATCCAATTCCTTGGGCAGT	0.318000													36	10					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14412282	14412282	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:14412282C>G	ENST00000382080.1	-	2	908	c.193G>C	c.(193-195)Gcc>Ccc	p.A65P	SGCZ_ENST00000421524.2_Missense_Mutation_p.A52P	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	52					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ATTGTCATGGCTAAGTTAACT	0.378000													50	47					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74934093	74934093	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:74934093C>T	ENST00000569840.2	+	13	2026	c.1452C>T	c.(1450-1452)atC>atT	p.I484I	MGAT5B_ENST00000301618.4_Silent_p.I482I|MGAT5B_ENST00000428789.2_Silent_p.I493I	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	484						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTGGGCATCCTGAACAAAT	0.552000													20	39					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138529138	138529138	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:138529138G>A	ENST00000440172.1	-	18	5424	c.5376C>T	c.(5374-5376)gcC>gcT	p.A1792A	KIAA1549_ENST00000422774.1_Silent_p.A1792A|KIAA1549_ENST00000242365.4_Silent_p.A1742A	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1792						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAGCAAATGGGGCTTCGGCGG	0.617000			O	BRAF	pilocytic astrocytoma								23	10					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11572549	11572549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:11572549C>T	ENST00000262442.3	+	16	2968	c.2900C>T	c.(2899-2901)tCc>tTc	p.S967F	DNAH9_ENST00000454412.2_Missense_Mutation_p.S967F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	967	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACGGCTTTCCCCACAAAAT	0.537000													42	52					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38899616	38899616	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:38899616C>T	ENST00000359357.3	+	74	10907	c.10653C>T	c.(10651-10653)atC>atT	p.I3551I	RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000441566.1_Silent_p.I3515I|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.I3768I					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						AATGTGATATCATGGATACAT	0.338000													57	276					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452553	138452553	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:138452553G>A	ENST00000344876.4	-	1	1076	c.690C>T	c.(688-690)tcC>tcT	p.S230S	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Silent_p.S230S|PCDH18_ENST00000507846.1_Silent_p.S10S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	230	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTTTTAGTATGGATGAGCCAG	0.453000													19	39					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140647	56140647	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:56140647C>T	ENST00000319441.4	+	10	1820	c.1656C>T	c.(1654-1656)ctC>ctT	p.L552L	PCK1_ENST00000543666.1_Silent_p.L235L	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	552				KL -> NV (in Ref. 1; AAA60084).	gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GCACCAAGCTCACGCCCATAG	0.542000													18	41					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22167174	22167174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:22167174C>T	ENST00000389397.4	+	34	3674	c.812C>T	c.(811-813)tCc>tTc	p.S271F	VWA3A_ENST00000389398.5_Missense_Mutation_p.S1169F|VWA3A_ENST00000563755.1_Missense_Mutation_p.S271F			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1169						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCCACCAGATCCCAACTCCAG	0.532000													38	27					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196733596	196733596	+	Missense_Mutation	SNP	C	C	T	rs148616625	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:196733596C>T	ENST00000296350.5	-	14	1875	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	588	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GCCCAGGGCTCGGAATTGTGG	0.607000													14	11					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32576120	32576120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:32576120G>A	ENST00000319778.6	-	7	1360	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	EPC1_ENST00000263062.8_Missense_Mutation_p.P353L|EPC1_ENST00000375110.2_Missense_Mutation_p.P303L	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	353					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CGTCTGTTGGGGAGTAGCAGC	0.473000													31	37					0	0	1	0	0
NAA30	122830	broad.mit.edu	37	14	57863570	57863570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:57863570C>T	ENST00000556492.1	+	3	1026	c.872C>T	c.(871-873)tCc>tTc	p.S291F	NAA30_ENST00000554703.1_Missense_Mutation_p.S33F|NAA30_ENST00000555166.1_Missense_Mutation_p.S33F	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	291	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						GCCGTGGATTCCAAATACAGG	0.373000													22	21					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10211599	10211599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:10211599C>T	ENST00000377157.3	+	20	3232	c.2171C>T	c.(2170-2172)tCc>tTc	p.S724F	UBE4B_ENST00000253251.8_Missense_Mutation_p.S840F|UBE4B_ENST00000343090.6_Missense_Mutation_p.S969F	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	969					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTGGTACCTTCCCTGATGAAG	0.458000													40	3					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36156123	36156123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:36156123C>T	ENST00000378660.1	+	9	1282	c.1094C>T	c.(1093-1095)tCa>tTa	p.S365L	CHDC2_ENST00000313548.4_Missense_Mutation_p.S365L					calponin homology domain containing 2																		AAAGACCTTTCAGATGGTCTT	0.318000													16	0					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031447	79031447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:79031447G>A	ENST00000446378.2	+	2	6890	c.6859G>A	c.(6859-6861)Gaa>Aaa	p.E2287K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2287						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGTGTCTAGGGAAGATTATGG	0.338000													25	53					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14014026	14014026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:14014026G>A	ENST00000311895.7	+	1	13	c.4G>A	c.(4-6)Gag>Aag	p.E2K	ERCC4_ENST00000575156.1_Missense_Mutation_p.E2K	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	2					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGCTTCCATGGAGTCAGGGCA	0.632000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				25	48					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189872240	189872240	+	Silent	SNP	A	A	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:189872240A>C	ENST00000304636.3	+	45	3440	c.3270A>C	c.(3268-3270)ccA>ccC	p.P1090P	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1090	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTCAAGGCCCACGTGGTGACA	0.393000													4	18					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52548411	52548411	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:52548411G>A	ENST00000242839.4	-	2	1101	c.945C>T	c.(943-945)atC>atT	p.I315I	ATP7B_ENST00000448424.2_Silent_p.I315I|ATP7B_ENST00000542656.1_Silent_p.I283I|ATP7B_ENST00000418097.2_Silent_p.I315I|ATP7B_ENST00000344297.5_Silent_p.I315I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Silent_p.I315I|ATP7B_ENST00000400366.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	315	HMA 3.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GAAGTGCCTCGATAGCCCTCT	0.507000									Wilson disease				65	173					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73064757	73064757	+	RNA	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:73064757G>A	ENST00000429829.1	-	0	7831					NR_001564.2																						AGAAGGGAAAGGAAGATTGAG	0.507000													42	10					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35014173	35014173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:35014173G>A	ENST00000231420.6	-	10	1215	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	339					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AGGACATCGTGGGTTTGGAAG	0.502000													27	28					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18757519	18757519	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:18757519A>T	ENST00000304081.4	-	8	1360	c.1260T>A	c.(1258-1260)ttT>ttA	p.F420L	NT5C1B_ENST00000359846.2_Missense_Mutation_p.F480L|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.F480L|NT5C1B_ENST00000600945.1_Missense_Mutation_p.F480L	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCTCCTTGGTAAAATGTTCAG	0.423000													26	22					0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279479	73279479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:73279479C>T	ENST00000320531.2	+	2	265	c.229C>T	c.(229-231)Ctc>Ttc	p.L77F		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	77						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GGGCCAGGCTCTCTGGGCTGG	0.692000													51	30					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198968577	198968577	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:198968577A>G	ENST00000428675.1	+	5	3420	c.3022A>G	c.(3022-3024)Aat>Gat	p.N1008D	PLCL1_ENST00000437704.2_Missense_Mutation_p.N910D	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1008					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGAACTTCATAATTTGGGGGC	0.353000													5	12					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32026070	32026070	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:32026070C>T	ENST00000375244.3	-	22	7791	c.7590G>A	c.(7588-7590)gtG>gtA	p.V2530V	TNXB_ENST00000375247.2_Silent_p.V2530V			P22105	TENX_HUMAN	tenascin XB	2590	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGATCCTGTCACTGTCAGCT	0.672000													252	649					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65032504	65032504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:65032504C>T	ENST00000394156.3	-	4	937	c.484G>A	c.(484-486)Gag>Aag	p.E162K	CDH11_ENST00000268603.4_Missense_Mutation_p.E162K|CDH11_ENST00000566827.1_Missense_Mutation_p.E36K			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	162	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGATAGGTCTCGTGCAGGAAC	0.597000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			40	68					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4517588	4517588	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:4517588C>T	ENST00000301286.3	-	1	128	c.129G>A	c.(127-129)gaG>gaA	p.E43E		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	43						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTTGGGCAGCCTCGGCAGCAG	0.706000													14	13					0	0	1	0	0
HSD11B1L	374875	broad.mit.edu	37	19	5685010	5685010	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:5685010G>A	ENST00000581521.1	+	5	559	c.84G>A	c.(82-84)caG>caA	p.Q28Q	HSD11B1L_ENST00000342970.2_5'UTR|HSD11B1L_ENST00000423665.2_Silent_p.Q28Q|RPL36_ENST00000577222.1_5'UTR|HSD11B1L_ENST00000422535.2_Silent_p.Q28Q|RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000577917.1_Intron|HSD11B1L_ENST00000339423.2_Silent_p.Q28Q|HSD11B1L_ENST00000301382.4_Intron|HSD11B1L_ENST00000583928.1_Intron|HSD11B1L_ENST00000577701.1_3'UTR|HSD11B1L_ENST00000411793.2_5'UTR|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000581773.1_Silent_p.Q28Q|HSD11B1L_ENST00000581893.1_5'UTR			Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like	28						extracellular region	binding|oxidoreductase activity										CCAGCCTCCAGGGAGCGCGAG	0.672000													3	10					0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64686287	64686287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:64686287C>T	ENST00000261884.3	+	2	304	c.244C>T	c.(244-246)Cct>Tct	p.P82S	TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	82					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						GATTTCGGATCCTTTGCAGCA	0.333000													8	15					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2787242	2787242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:2787242G>A	ENST00000397461.1	+	5	603	c.219G>A	c.(217-219)atG>atA	p.M73I	CNTN4_ENST00000427331.1_Missense_Mutation_p.M73I|CNTN4_ENST00000418658.1_Missense_Mutation_p.M73I	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	73	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACACTGGTATGGATTTCCGCT	0.383000													55	47					0	0	1	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46020577	46020577	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:46020577T>C	ENST00000380102.2	+	1	81	c.56T>C	c.(55-57)gTc>gCc	p.V19A	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	19						keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GGCAGCCGCGTCTGCCTTCCT	0.647000													18	16					0	0	1	0	0
C1GALT1	56913	broad.mit.edu	37	7	7278172	7278172	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:7278172T>A	ENST00000436587.2	+	3	730	c.507T>A	c.(505-507)gaT>gaA	p.D169E	C1GALT1_ENST00000402468.3_Missense_Mutation_p.D169E|C1GALT1_ENST00000223122.2_Missense_Mutation_p.D169E	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	169					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TGAAAGCAGATGATGACACGT	0.353000													7	36					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13428095	13428095	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:13428095C>T	ENST00000360228.5	-	11	1385	c.1386G>A	c.(1384-1386)ctG>ctA	p.L462L	CACNA1A_ENST00000573710.2_Silent_p.L463L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	463					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCGAGTTCTCCAGCTTGGCAC	0.493000													10	13					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	1998937	1998937	+	Silent	SNP	C	C	T	rs140335541	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:1998937C>T	ENST00000262113.4	+	2	198	c.57C>T	c.(55-57)tcC>tcT	p.S19S	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	19					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCGACCAGTCCTACCGTAATA	0.493000													15	36					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26614222	26614222	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:26614222C>T	ENST00000380581.2	-	2	1393	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000519229.1_3'UTR|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380582.3_3'UTR			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	0					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGGTGGGTTTCATGCTCCCCT	0.517000													7	19					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496721	20496721	+	RNA	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:20496721C>T	ENST00000555186.1	+	0	774					NR_038836.1																						AATGTACCTTCTTTCACTCTG	0.403000													4	32					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056762	120056762	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:120056762C>T	ENST00000235547.6	+	4	761	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	HSD3B1_ENST00000369413.3_Silent_p.L206L|HSD3B1_ENST00000528909.1_Silent_p.L206L	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	206					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	AAACGAGGCCCTGAACAACAA	0.502000													51	7					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924849	188924849	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:188924849C>T	ENST00000326866.4	+	4	1296	c.888C>T	c.(886-888)atC>atT	p.I296I	ZFP42_ENST00000509524.1_Silent_p.I296I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	296					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AAGCCCACATCCTAACGCATG	0.468000													14	33					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128864276	128864276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:128864276G>A	ENST00000274487.4	+	6	1361	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	406	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGGCAACATGAAGAATTTGG	0.363000													19	21					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220502521	220502521	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:220502521C>T	ENST00000358055.3	+	17	3266	c.2754C>T	c.(2752-2754)ttC>ttT	p.F918F	SLC4A3_ENST00000273063.6_Silent_p.F945F|SLC4A3_ENST00000373760.2_Silent_p.F918F|SLC4A3_ENST00000317151.3_Silent_p.F918F|SLC4A3_ENST00000373762.3_Silent_p.F945F			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	918	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGCCGCTTCCTGGGGGGCA	0.622000													28	20					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34100926	34100926	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:34100926G>A	ENST00000373381.4	-	31	5150	c.4974C>T	c.(4972-4974)ccC>ccT	p.P1658P	CSMD2_ENST00000373380.1_Silent_p.P531P|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1618	CUB 10.					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)				GTCCCCCACAGGGGGCTGAAA	0.552000											OREG0013349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	3					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20368676	20368676	+	RNA	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:20368676C>T	ENST00000593655.1	-	0	199																											cttgttttttcctttatttac	0.433000													8	18					0	0	1	0	0
IL2RG	3561	broad.mit.edu	37	X	70331331	70331331	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:70331331C>G	ENST00000374202.2	-	1	150	c.59G>C	c.(58-60)gGa>gCa	p.G20A		NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	20					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	CAGCCCCACTCCCAGCAGGGG	0.552000									Severe Combined Immunodeficiency, X-linked				22	4					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004731	248004731	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:248004731G>A	ENST00000355784.2	-	1	523	c.468C>T	c.(466-468)ggC>ggT	p.G156G		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGCAGAAAGCCTGTGCTGA	0.577000													65	79					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88260223	88260223	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:88260223G>A	ENST00000298767.5	-	3	1249	c.777C>T	c.(775-777)ccC>ccT	p.P259P		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	259	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TCTCCAAAAGGGGATCACTAT	0.358000													26	38					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1525051	1525051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:1525051G>A	ENST00000389470.4	-	24	3516	c.3517C>T	c.(3517-3519)Ccc>Tcc	p.P1173S	INTS1_ENST00000404767.3_Missense_Mutation_p.P1011S			Q8N201	INT1_HUMAN	integrator complex subunit 1	1011					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCATGGGGGGCTCCTTCTCC	0.657000													26	7					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34073275	34073275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:34073275C>T	ENST00000254466.6	-	6	1268	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	GAS2L2_ENST00000587565.1_Missense_Mutation_p.G398E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	414					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGAATCCTTCCCCTGGGGAG	0.597000													83	122					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69633640	69633640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:69633640G>A	ENST00000337103.4	+	9	2631	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	C8orf34_ENST00000518698.1_Missense_Mutation_p.E458K|C8orf34_ENST00000325233.3_Missense_Mutation_p.E116K|C8orf34_ENST00000539993.1_Missense_Mutation_p.E372K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	372					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGAGGGTGACGAATTTGAGAA	0.279000													9	19					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88508884	88508884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:88508884G>A	ENST00000552810.1	-	19	2243	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Nonsense_Mutation_p.Q636*	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	634					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATTTATTCTGAAATTTGGCT	0.289000													3	5					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56587044	56587044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:56587044G>A	ENST00000336078.4	+	4	2301	c.1525G>A	c.(1525-1527)Gca>Aca	p.A509T	ZNF532_ENST00000591083.1_Missense_Mutation_p.A509T|ZNF532_ENST00000591230.1_Missense_Mutation_p.A509T|ZNF532_ENST00000589288.1_Missense_Mutation_p.A509T|ZNF532_ENST00000591808.1_Missense_Mutation_p.A509T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CGTGGTGCCGGCATCCAGCCT	0.582000													3	30					0	0	1	0	0
NDE1	54820	broad.mit.edu	37	16	15761167	15761167	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:15761167C>T	ENST00000396355.1	+	4	934	c.108C>T	c.(106-108)ctC>ctT	p.L36L	NDE1_ENST00000396354.1_Silent_p.L36L|NDE1_ENST00000342673.5_Silent_p.L36L|NDE1_ENST00000396353.2_Silent_p.L36L	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	36	Self-association (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AAGAGGAACTCCGAGAATTCC	0.448000													30	42					0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88018473	88018473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:88018473C>T	ENST00000504921.2	-	10	2042	c.1370G>A	c.(1369-1371)aGg>aAg	p.R457K	MEF2C_ENST00000437473.2_Missense_Mutation_p.R457K|MEF2C_ENST00000424173.2_Missense_Mutation_p.R447K|MEF2C_ENST00000508569.1_Missense_Mutation_p.R417K|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000340208.5_Missense_Mutation_p.R467K|MEF2C_ENST00000539796.1_Missense_Mutation_p.R401K|MEF2C_ENST00000514015.1_Missense_Mutation_p.R425K|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000510942.1_Missense_Mutation_p.R449K|MEF2C_ENST00000514028.1_Missense_Mutation_p.R457K			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	457					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GGGACTTTCCCTTTCGTCCGG	0.493000										HNSCC(66;0.2)			77	115					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705266	41705266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:41705266C>T	ENST00000379485.1	-	1	1616	c.1382G>A	c.(1381-1383)aGa>aAa	p.R461K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R395K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	461							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCACTGGTTTCTCTTAACATT	0.438000													25	155					0	0	1	0	0
ALMS1P	200420	broad.mit.edu	37	2	73899550	73899550	+	RNA	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:73899550G>A	ENST00000450720.1	+	0	422					NR_003683.2																						AGAAAAACATGAAGAGAAAAT	0.418000													5	11					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127335762	127335762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:127335762C>T	ENST00000265056.7	+	10	1818	c.1574C>T	c.(1573-1575)cCt>cTt	p.P525L		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	525	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TGCGGAGACCCTGGCACAGCG	0.597000													52	91					0	0	1	0	0
DDX39A	10212	broad.mit.edu	37	19	14521959	14521959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:14521959G>A	ENST00000242776.4	-	5	556	c.455C>T	c.(454-456)tCc>tTc	p.S152F	DDX39A_ENST00000592927.1_5'UTR|DDX39A_ENST00000454233.2_Missense_Mutation_p.S152F	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	152	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CTTCTTGATGGAGAGACCACC	0.597000													58	52					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123130398	123130398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:123130398C>T	ENST00000264501.4	+	18	2210	c.1837C>T	c.(1837-1839)Cca>Tca	p.P613S	KIAA1109_ENST00000455637.1_Missense_Mutation_p.P613S|KIAA1109_ENST00000495260.1_Intron|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P613S			Q2LD37	K1109_HUMAN	KIAA1109	613					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAATTGCCATCCAAATAAGAT	0.353000													11	8					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73625544	73625544	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:73625544C>T	ENST00000317905.5	-	16	2118	c.1959G>A	c.(1957-1959)aaG>aaA	p.K653K	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.K626K	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	653					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTCCCACCCGCTTGGGTTTGA	0.622000								Other identified genes with known or suspected DNA repair function					22	26					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43702363	43702363	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:43702363C>T	ENST00000405312.3	-	3	732	c.495G>A	c.(493-495)gtG>gtA	p.V165V	PSG4_ENST00000244295.9_Silent_p.V165V|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	165	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGGTTAAGATCACAGCCTCCA	0.547000													77	162					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167185017	167185017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:167185017C>T	ENST00000476257.1	-	4	602	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	SERPINI2_ENST00000471111.1_Missense_Mutation_p.E102K|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E102K|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E102K			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	102					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AATGTAAATTCTTGTTTTTTC	0.328000													20	34					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170058370	170058370	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:170058370G>A	ENST00000263816.3	-	44	8505	c.8220C>T	c.(8218-8220)acC>acT	p.T2740T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2740	LDL-receptor class A 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCGGTGAGCAGGTGTGAAGTG	0.403000													18	31					0	0	1	0	0
FBXW4	6468	broad.mit.edu	37	10	103433355	103433355	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:103433355G>A	ENST00000331272.7	-	3	1050	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	144					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		CATCTGGACGGAACTGGTAGG	0.483000													36	44					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2133790	2133790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:2133790G>A	ENST00000219476.3	+	33	4608	c.3978G>A	c.(3976-3978)atG>atA	p.M1326I	TSC2_ENST00000568454.1_Missense_Mutation_p.M1270I|TSC2_ENST00000382538.6_Missense_Mutation_p.M1211I|TSC2_ENST00000439673.2_Missense_Mutation_p.M1223I|TSC2_ENST00000353929.4_Missense_Mutation_p.M1283I|TSC2_ENST00000350773.4_Missense_Mutation_p.M1303I|TSC2_ENST00000401874.2_Missense_Mutation_p.M1259I	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1326					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGCTAGGCATGGACAGGCGCA	0.672000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				9	23					0	0	1	0	0
TMEM251	26175	broad.mit.edu	37	14	93652850	93652850	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:93652850T>A	ENST00000415050.2	+	2	719	c.344T>A	c.(343-345)gTa>gAa	p.V115E	RP11-371E8.4_ENST00000557574.1_Intron|RP11-371E8.4_ENST00000557048.1_Intron|TMEM251_ENST00000283534.4_Missense_Mutation_p.V77E	NM_001098621.1	NP_001092091.1			transmembrane protein 251																		ATTTTTCTGGTACCTTACTTA	0.443000													25	29					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100874047	100874047	+	Silent	SNP	G	G	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:100874047G>T	ENST00000358544.2	+	58	11274	c.11163G>T	c.(11161-11163)cgG>cgT	p.R3721R	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.R3696R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3721					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCCTGGCCCGGAACATGGACC	0.632000													6	12					1.26484e-09	1.27523e-09	1	1	0
CLEC3A	10143	broad.mit.edu	37	16	78064447	78064447	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:78064447C>T	ENST00000299642.4	+	3	415	c.330C>T	c.(328-330)atC>atT	p.I110I	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Silent_p.I101I|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	101	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AAGGAGGAATCCTGGTTATCC	0.478000													45	32					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69020427	69020427	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:69020427C>T	ENST00000288368.4	+	24	3076	c.2799C>T	c.(2797-2799)ttC>ttT	p.F933F		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	933					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						GCAGTGATTTCTGCCCTACCA	0.428000													24	18					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152815107	152815107	+	Silent	SNP	G	G	A	rs143273384	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:152815107G>A	ENST00000370186.1	+	9	1775	c.1449G>A	c.(1447-1449)gaG>gaA	p.E483E	ATP2B3_ENST00000370181.2_Silent_p.E483E|ATP2B3_ENST00000393842.1_Silent_p.E483E|ATP2B3_ENST00000349466.2_Silent_p.E497E|ATP2B3_ENST00000359149.3_Silent_p.E497E|ATP2B3_ENST00000263519.4_Silent_p.E497E			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	497					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTACAAAGAGATTCCGGCCC	0.582000													34	3					0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368846	27368846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:27368846C>T	ENST00000244576.4	+	3	1242	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						CTTCGGTGACCGTTCAACCAT	0.423000													37	28					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154311726	154311726	+	Silent	SNP	G	G	A	rs3749672	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:154311726G>A	ENST00000285873.7	-	4	669	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	198					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTATGGAGTGGATTTCATCAT	0.408000													43	46					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121602820	121602820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:121602820G>A	ENST00000275159.6	-	14	1477	c.1478C>T	c.(1477-1479)cCt>cTt	p.P493L	TBC1D32_ENST00000398212.2_Missense_Mutation_p.P493L					TBC1 domain family, member 32																		CATACTTGCAGGAGAGTAATT	0.303000													36	4					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111164294	111164294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:111164294G>A	ENST00000360467.5	+	48	5201	c.4895G>A	c.(4894-4896)gGa>gAa	p.G1632E		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1632	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			ACGGCGGCGGGAGACGAAGGC	0.632000													75	33					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160963826	160963826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:160963826C>T	ENST00000447678.1	-	35	5533	c.5413G>A	c.(5413-5415)Gat>Aat	p.D1805N	LPA_ENST00000484276.1_5'UTR|LPA_ENST00000316300.5_Missense_Mutation_p.D1805N	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4313	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTCCCACAATCAAATGAAGAG	0.502000													50	6					0	0	1	0	0
TRIM16	10626	broad.mit.edu	37	17	15532290	15532290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:15532290G>A	ENST00000578237.1	-	11	2189	c.1334C>T	c.(1333-1335)aCc>aTc	p.T445I	TRIM16_ENST00000416464.2_Missense_Mutation_p.T315I|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000336708.7_Missense_Mutation_p.T445I|TRIM16_ENST00000577886.1_Missense_Mutation_p.T229I|TRIM16_ENST00000579219.1_3'UTR					tripartite motif containing 16											breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GCCTTTGCAGGTCAGGCCAAC	0.572000													25	36					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166910622	166910622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:166910622G>A	ENST00000061240.2	+	2	906	c.259G>A	c.(259-261)Gga>Aga	p.G87R	TLL1_ENST00000513213.1_Missense_Mutation_p.G87R|TLL1_ENST00000507499.1_Missense_Mutation_p.G87R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	87					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)		GAACCCCTTTGGAAACCTTGG	0.333000													33	45					0	0	1	0	0
AC015849.16	0	broad.mit.edu	37	17	34235668	34235668	+	RNA	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:34235668G>A	ENST00000587132.1	-	0	2359																											ATAACTTTCAGACTGCACCAG	0.443000													16	21					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763404	77763404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:77763404C>T	ENST00000521891.2	+	10	4695	c.4247C>T	c.(4246-4248)tCc>tTc	p.S1416F	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1390F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1371F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1371F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1371						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)			CAGATACATTCCCAGTATCAT	0.463000										HNSCC(33;0.089)			11	29					0	0	1	0	0
PPP2R4	5524	broad.mit.edu	37	9	131891281	131891281	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:131891281C>T	ENST00000337738.1	+	5	606	c.339C>T	c.(337-339)gtC>gtT	p.V113V	PPP2R4_ENST00000355007.3_Intron|PPP2R4_ENST00000393370.2_Silent_p.V78V|PPP2R4_ENST00000357197.4_Silent_p.V49V|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000452489.2_Silent_p.V113V|PPP2R4_ENST00000358994.4_Silent_p.V78V|PPP2R4_ENST00000348141.5_Silent_p.V84V	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	113				V -> L (in Ref. 1; CAA51873, 2; CAA60163 and 3; CAB77601/CAB77602).	ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		AGAAACTAGTCGCTCTTCTCA	0.547000													36	9					0	0	1	0	0
GIN1	54826	broad.mit.edu	37	5	102444279	102444279	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:102444279A>C	ENST00000399004.2	-	2	227	c.133T>G	c.(133-135)Ttc>Gtc	p.F45V	GIN1_ENST00000508629.1_Missense_Mutation_p.F45V	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	45					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TTACCTTTGAAGACAAATTTT	0.343000													22	16					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182402939	182402939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:182402939C>T	ENST00000410087.3	-	13	1671	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E	CERKL_ENST00000409440.3_Missense_Mutation_p.G506E|CERKL_ENST00000374969.2_Missense_Mutation_p.G411E|CERKL_ENST00000374970.2_Missense_Mutation_p.G455E|CERKL_ENST00000339098.5_Missense_Mutation_p.G550E	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	550					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTCCATGCTTCCTCCATAAAG	0.289000													12	27					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899120	133899120	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:133899120C>T	ENST00000220616.4	+	9	1543	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	TG_ENST00000377869.1_Silent_p.F501F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	501					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTCAATTTTTCCAGCAACTTG	0.438000													27	63					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63547742	63547742	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:63547742G>A	ENST00000397968.2	+	12	2396	c.1970G>A	c.(1969-1971)gGc>gAc	p.G657D	CDH7_ENST00000323011.3_Missense_Mutation_p.G657D	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	657					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GATGACGAGGGCGGGGGAGAG	0.483000													28	35					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21121119	21121119	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:21121119G>A	ENST00000269228.5	-	16	2981	c.2427C>T	c.(2425-2427)agC>agT	p.S809S	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.S491S	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	809					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGGCCTGGACGCTTGTTCCAT	0.473000													24	32					0	0	1	0	0
DLX5	1749	broad.mit.edu	37	7	96650104	96650104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:96650104G>A	ENST00000222598.4	-	3	1287	c.814C>T	c.(814-816)Ccg>Tcg	p.P272S	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	272					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CCCGGCGGCGGCAGGTGGGAA	0.587000													43	20					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51456309	51456309	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:51456309G>A	ENST00000335891.5	-	8	1920	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1086					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGCTTCCCGGAACACTGAAA	0.483000													8	16					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076557	87076557	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:87076557G>A	ENST00000276616.2	-	2	563	c.489C>T	c.(487-489)atC>atT	p.I163I	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	163	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CCATCTGGAGGATCCTGACGG	0.478000													49	32					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102067206	102067206	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:102067206G>A	ENST00000549145.1	+	25	2733	c.2631_splice	c.e25-1	p.G878_splice	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Splice_Site_p.G833_splice|MYBPC1_ENST00000553190.1_Splice_Site_p.G847_splice|MYBPC1_ENST00000441232.1_Splice_Site_p.G865_splice|MYBPC1_ENST00000551300.1_Splice_Site_p.G748_splice|MYBPC1_ENST00000361685.2_Splice_Site_p.G872_splice|MYBPC1_ENST00000360610.2_Splice_Site_p.G865_splice|MYBPC1_ENST00000550270.1_Splice_Site_p.G865_splice|MYBPC1_ENST00000547405.1_Splice_Site_p.G821_splice|MYBPC1_ENST00000452455.2_Splice_Site_p.G865_splice|MYBPC1_ENST00000545503.2_Splice_Site_p.G847_splice|MYBPC1_ENST00000361466.2_Splice_Site_p.G872_splice|MYBPC1_ENST00000392934.3_Splice_Site_p.G834_splice|MYBPC1_ENST00000541119.1_Splice_Site_p.G835_splice|MYBPC1_ENST00000536007.1_Splice_Site_p.G828_splice			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	865	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCTTTTTAGGGAAAACCAAGA	0.358000													31	47					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3553521	3553521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:3553521C>T	ENST00000262919.5	+	12	2083	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L	ATRN_ENST00000446916.2_Missense_Mutation_p.S672L	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	672					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.S672L(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AACACAGGGTCGTCTCAGTGT	0.448000													16	49					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37118320	37118320	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:37118320C>T	ENST00000435416.1	+	3	3013	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	ZNF382_ENST00000423582.1_Silent_p.L458L|ZNF382_ENST00000439428.1_Silent_p.L506L|ZNF382_ENST00000292928.2_Silent_p.L507L			Q96SR6	ZN382_HUMAN	zinc finger protein 382	507	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AATCAAACCTCATTCGCCATC	0.428000													31	32					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582494	82582494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:82582494G>A	ENST00000423517.2	-	5	8112	c.7775C>T	c.(7774-7776)cCa>cTa	p.P2592L	PCLO_ENST00000333891.8_Missense_Mutation_p.P2592L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2523					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAATCTGTTGGAGTCCCTGG	0.448000													118	40					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15559193	15559193	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:15559193C>T	ENST00000378076.3	-	30	3509	c.3156G>A	c.(3154-3156)agG>agA	p.R1052R		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	1052					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCAGCTGTTCCCTGTCGGTCA	0.443000													26	28					0	0	1	0	0
CD27	939	broad.mit.edu	37	12	6554278	6554278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:6554278C>T	ENST00000266557.3	+	1	246	c.17C>T	c.(16-18)cCc>cTc	p.P6L	CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	NM_001242.4	NP_001233.1	P26842	CD27_HUMAN	CD27 molecule	6					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CGGCCACATCCCTGGTGGCTG	0.647000													8	8					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6596446	6596446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:6596446C>T	ENST00000433363.2	-	9	1425	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	SLC13A5_ENST00000573648.1_Missense_Mutation_p.D398N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.D381N|SLC13A5_ENST00000381074.4_Missense_Mutation_p.D355N	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	398						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						ACCTTCCAATCCAGCAGGGGA	0.517000													19	30					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183532329	183532329	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:183532329C>T	ENST00000413720.1	-	12	1430		c.e12+1		NCF2_ENST00000367535.3_Splice_Site|NCF2_ENST00000367536.1_Splice_Site|NCF2_ENST00000418089.1_Splice_Site|NCF2_ENST00000469280.1_Splice_Site	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2						cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ATTGCACTCACCACTGTGTTC	0.473000													46	48					0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109332694	109332694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:109332694C>T	ENST00000299134.5	-	7	609	c.610G>A	c.(610-612)Gga>Aga	p.G204R		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						TTCCTGGTTCCCTGACAGCAC	0.557000													50	103					0	0	1	0	0
ST13	6767	broad.mit.edu	37	22	41252455	41252455	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:41252455G>A	ENST00000216218.3	-	1	571	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	30							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						ACTCCCTCAGGAAGCGCATTT	0.642000													50	39					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178585775	178585775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:178585775C>T	ENST00000251582.7	-	6	1182	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D361N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	361	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATGGCGTGATCGTGGTATTCA	0.607000													41	102					0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114014474	114014474	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:114014474C>T	ENST00000481065.1	+	3	2960	c.345C>T	c.(343-345)tcC>tcT	p.S115S	TIGIT_ENST00000383671.3_Silent_p.S48S|TIGIT_ENST00000486257.1_Silent_p.S48S			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	48	Ig-like V-type.				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GTCACCTCTCCTCCACCACGG	0.517000													61	95					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10444004	10444004	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:10444004C>T	ENST00000245503.5	-	11	1299	c.915G>A	c.(913-915)ctG>ctA	p.L305L	MYH2_ENST00000532183.1_Silent_p.L305L|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.L305L	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	305	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L305L(1)		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						TCGTGGTAATCAGAAGCATTT	0.378000													16	25					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141135848	141135848	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:141135848C>T	ENST00000389484.3	-	68	11510	c.10539G>A	c.(10537-10539)caG>caA	p.Q3513Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3513					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGTACATGTCTGTGGCTCTG	0.383000										TSP Lung(27;0.18)			26	24					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3746787	3746787	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:3746787G>A	ENST00000541714.2	+	18	2697	c.2235G>A	c.(2233-2235)ctG>ctA	p.L745L	TJP3_ENST00000589378.1_Silent_p.L754L|TJP3_ENST00000262968.9_Silent_p.L778L|TJP3_ENST00000587686.1_Silent_p.L764L|TJP3_ENST00000382008.3_Silent_p.L759L|TJP3_ENST00000539908.2_Silent_p.L709L	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	759	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATCCCTCTGAATGGCACGA	0.642000													9	5					0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97007106	97007106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:97007106G>A	ENST00000329399.6	-	5	659	c.551C>T	c.(550-552)cCt>cTt	p.P184L	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	184					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCTGCTTGGAGGCTGAGCATG	0.433000													22	42					0	0	1	0	0
CCK	885	broad.mit.edu	37	3	42299711	42299711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:42299711C>T	ENST00000396169.2	-	5	1132	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	CCK_ENST00000334681.5_Missense_Mutation_p.R76Q|CCK_ENST00000434608.1_Missense_Mutation_p.R76Q	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	76					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	p.R76Q(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GATGGACATTCGTCCAGAAGG	0.517000													46	45					0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225718286	225718286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:225718286G>A	ENST00000366844.2	-	4	855	c.404C>T	c.(403-405)cCa>cTa	p.P135L	ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000366843.2_Missense_Mutation_p.P135L|ENAH_ENST00000284563.6_Missense_Mutation_p.P154L	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	135					axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TTCTTGGGATGGGCCATTTTG	0.348000													96	92					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823664	47823664	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:47823664C>T	ENST00000355085.3	+	2	652	c.630C>T	c.(628-630)ggC>ggT	p.G210G		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	210					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TGGTCCTGGGCTTCCTGTGGC	0.617000													51	110					0	0	1	0	0
SCARNA2	677766	broad.mit.edu	37	1	109643094	109643094	+	RNA	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:109643094C>T	ENST00000458748.1	+	0	280					NR_003023.1																						CAGCGAGGCCCCTTAGGCGGC	0.672000													12	0					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67791147	67791147	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:67791147C>T	ENST00000422365.2	+	7	873	c.702C>T	c.(700-702)ttC>ttT	p.F234F	MCMDC2_ENST00000396592.3_Silent_p.F234F|MCMDC2_ENST00000541540.1_Silent_p.F171F|MCMDC2_ENST00000313616.5_Silent_p.F234F|MCMDC2_ENST00000492775.1_Silent_p.F234F	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	234					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TTACAATTTTCCTAAGAGGTA	0.353000													8	34					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43109802	43109802	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:43109802C>T	ENST00000230419.4	+	12	2123	c.1902C>T	c.(1900-1902)ccC>ccT	p.P634P	PTK7_ENST00000481273.1_Silent_p.P642P|PTK7_ENST00000349241.2_Silent_p.P504P|PTK7_ENST00000352931.2_Intron|PTK7_ENST00000345201.2_Silent_p.P594P	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	634	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TCCTGGACCCCACCAAGCTGG	0.667000													29	63					0	0	1	0	0
MAPK8	5599	broad.mit.edu	37	10	49628347	49628347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:49628347G>A	ENST00000374189.1	+	6	781	c.600G>A	c.(598-600)atG>atA	p.M200I	MAPK8_ENST00000374182.3_Missense_Mutation_p.M200I|MAPK8_ENST00000360332.3_Missense_Mutation_p.M200I|MAPK8_ENST00000395611.3_Missense_Mutation_p.M200I|MAPK8_ENST00000374174.1_Missense_Mutation_p.M200I			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	200	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TCCTTGGCATGGGCTACAAGG	0.398000													22	40					0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151545640	151545640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:151545640G>A	ENST00000232892.6	+	5	1006	c.880G>A	c.(880-882)Gga>Aga	p.G294R	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	294					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTTTATAAAAGGACATGTTTA	0.413000													28	32					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390018	158390018	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:158390018C>T	ENST00000314902.2	-	1	638	c.639G>A	c.(637-639)ttG>ttA	p.L213L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L213F(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ACACCAAGATCAACAATAAGG	0.448000													27	46					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143961048	143961048	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:143961048T>C	ENST00000292427.4	-	1	214	c.182A>G	c.(181-183)tAt>tGt	p.Y61C	CYP11B1_ENST00000517471.1_Missense_Mutation_p.Y61C|CYP11B1_ENST00000377675.3_Missense_Mutation_p.Y61C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	61					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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)				Mitotane(DB00648)	CAGGTCCTCATAACCCTGCTC	0.637000									Familial Hyperaldosteronism type I				25	64					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101095994	101095994	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:101095994G>A	ENST00000537026.1	-	8	833	c.474C>T	c.(472-474)ttC>ttT	p.F158F	NXF5_ENST00000361708.2_Silent_p.F158F|NXF5_ENST00000473265.2_Silent_p.F158F	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	158					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCACCTCAGGGAAATTTCTTT	0.483000													82	25					0	0	1	0	0
PPIC	5480	broad.mit.edu	37	5	122359598	122359598	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:122359598G>T	ENST00000306442.4	-	5	726	c.611C>A	c.(610-612)cCt>cAt	p.P204H		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	204					protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	p.P204L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	AACCACAAAAGGCGTTTTCAC	0.498000													59	70					5.73332e-34	5.84037e-34	1	1	0
DNAJA2	10294	broad.mit.edu	37	16	47001495	47001495	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:47001495G>A	ENST00000317089.5	-	5	722	c.507C>T	c.(505-507)atC>atT	p.I169I		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	169					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				GTCTGATCATGATGCGCACAC	0.478000													60	45					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113730372	113730372	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:113730372G>A	ENST00000397030.1	+	12	1537	c.1500G>A	c.(1498-1500)caG>caA	p.Q500Q	MCF2L_ENST00000375601.3_Silent_p.Q471Q|MCF2L_ENST00000421756.1_Silent_p.Q471Q|MCF2L_ENST00000375608.3_Silent_p.Q497Q|MCF2L_ENST00000375597.4_Silent_p.Q465Q|MCF2L_ENST00000535094.2_Silent_p.Q467Q|MCF2L_ENST00000423482.2_Silent_p.Q465Q|MCF2L_ENST00000375604.2_Silent_p.Q524Q|MCF2L_ENST00000434480.2_Silent_p.Q473Q|MCF2L_ENST00000442652.2_Silent_p.Q497Q			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	497					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|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CTGCCCTCCAGGAAATCGAGA	0.522000													16	70					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33500129	33500129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:33500129G>A	ENST00000404816.2	+	17	3194	c.2841G>A	c.(2839-2841)atG>atA	p.M947I	LTBP1_ENST00000407925.1_Missense_Mutation_p.M621I|LTBP1_ENST00000404525.1_Missense_Mutation_p.M568I|LTBP1_ENST00000402934.1_Missense_Mutation_p.M568I|LTBP1_ENST00000418533.2_Missense_Mutation_p.M621I|LTBP1_ENST00000390003.4_Missense_Mutation_p.M622I|LTBP1_ENST00000354476.3_Missense_Mutation_p.M948I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	947	EGF-like 5; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGGATTTATGGCCAGTGAGG	0.463000													37	26					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38811572	38811572	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:38811572G>A	ENST00000310803.5	-	4	504	c.326_splice	c.e4-1	p.L109_splice	RASGRP1_ENST00000539159.1_Splice_Site_p.L61_splice|RASGRP1_ENST00000559830.1_Splice_Site_p.L109_splice|RASGRP1_ENST00000561180.1_Splice_Site_p.L160_splice|RASGRP1_ENST00000558164.1_Splice_Site_p.L109_splice|RASGRP1_ENST00000450598.2_Splice_Site_p.L109_splice	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	109	N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CATCCTTATAGGTAGGGCTGT	0.373000													27	41					0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103338734	103338734	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:103338734T>G	ENST00000267273.6	-	4	447	c.442A>C	c.(442-444)Aac>Cac	p.N148H		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	148							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						TATTGAAGGTTTCCCAGGACA	0.418000													28	55					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42172360	42172360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:42172360C>T	ENST00000320955.6	-	14	3036	c.2809G>A	c.(2809-2811)Gag>Aag	p.E937K		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	937					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCTGTACCTCATATTTGAGC	0.587000													6	7					0	0	1	0	0
LMBRD1	55788	broad.mit.edu	37	6	70411843	70411843	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:70411843G>A	ENST00000370577.3	-	10	1147	c.918C>T	c.(916-918)atC>atT	p.I306I	LMBRD1_ENST00000370570.1_Silent_p.I233I	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	306					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TTCCCCAGACGATCTAAAAGC	0.269000													14	4					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34647265	34647265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:34647265C>T	ENST00000537011.1	+	7	1788	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	NUTM1_ENST00000438749.3_Missense_Mutation_p.S459F|NUTM1_ENST00000333756.4_Missense_Mutation_p.S441F					NUT midline carcinoma, family member 1																		GATCTGCTGTCCCCAGAAAAA	0.463000													44	63					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14014025	14014025	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:14014025G>A	ENST00000311895.7	+	1	12	c.3G>A	c.(1-3)atG>atA	p.M1I	ERCC4_ENST00000575156.1_Start_Codon_SNP_p.M1I	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	1					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GAGCTTCCATGGAGTCAGGGC	0.627000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				25	49					0	0	1	0	0
RP11-704M14.1	0	broad.mit.edu	37	4	70080520	70080520	+	RNA	SNP	A	A	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:70080520A>T	ENST00000505646.1	+	0	684																											ATCAAGTTAAAATATAACTCC	0.343000													11	13					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189611995	189611995	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:189611995G>A	ENST00000264731.3	+	14	1836	c.1746_splice	c.e14-1	p.D583_splice	TP63_ENST00000382063.4_Splice_Site_p.D498_splice|TP63_ENST00000392463.2_Splice_Site_p.R457_splice|TP63_ENST00000456148.1_Splice_Site_p.D485_splice|TP63_ENST00000449992.1_Splice_Site_p.D404_splice|TP63_ENST00000354600.5_Splice_Site_p.D489_splice|TP63_ENST00000392461.3_Splice_Site_p.R409_splice|TP63_ENST00000392460.3_Splice_Site_p.R551_splice|TP63_ENST00000440651.2_Splice_Site_p.D579_splice|TP63_ENST00000320472.5_Splice_Site_p.R503_splice	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	583	SAM.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTTGCACAGGATCTGGCAAG	0.493000										HNSCC(45;0.13)			20	30					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796673	21796673	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:21796673G>A	ENST00000206660.6	+	18	2986	c.2986G>A	c.(2986-2988)Gag>Aag	p.E996K	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.E322K|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.E355K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E958K|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E653K|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E996K			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	996	Interaction with RPGR.				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)		AAAGGAGAAGGAGCACCAGGT	0.428000													26	26					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54793064	54793064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:54793064C>T	ENST00000545554.1	+	21	5189	c.5189C>T	c.(5188-5190)tCt>tTt	p.S1730F	UNC13C_ENST00000537900.1_Missense_Mutation_p.S1728F|UNC13C_ENST00000260323.11_Missense_Mutation_p.S1730F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1730	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCTCTCTTTTCTTGCTCCGTG	0.428000													17	33					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18975061	18975061	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:18975061G>A	ENST00000262803.5	+	20	3129		c.e20+1		UPF1_ENST00000599848.1_Splice_Site	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)						cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						AGCAGCCAGGGTGAGTCGCTC	0.617000													34	63					0	0	1	0	0
DPT	1805	broad.mit.edu	37	1	168683549	168683549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:168683549C>T	ENST00000367817.3	-	2	430	c.341G>A	c.(340-342)gGa>gAa	p.G114E		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	114	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GCTCTGGAATCCTGCCACCAG	0.542000													15	79					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178096298	178096298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:178096298C>T	ENST00000397062.3	-	5	1587	c.1033G>A	c.(1033-1035)Ggc>Agc	p.G345S	NFE2L2_ENST00000397063.4_Missense_Mutation_p.G329S|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G329S|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G322S	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	345					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGTGAAATGCCGGAGTCAGAA	0.443000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			25	72					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022396	18022396	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:18022396G>A	ENST00000205890.5	+	2	620	c.282G>A	c.(280-282)aaG>aaA	p.K94K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	94	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCATGGGCAAGAAGAAGCGGG	0.667000													13	12					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226733	149226733	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:149226733C>T	ENST00000407073.1	+	9	2218	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	MBD5_ENST00000404807.1_Silent_p.L407L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	407	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAAGTAATCTCCCATTGCCAA	0.438000													52	84					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016610	27016610	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:27016610C>T	ENST00000318627.2	+	1	983	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	179						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CACTGGACATCTCTGTGGGGC	0.557000													35	7					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29904716	29904716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:29904716C>T	ENST00000256062.5	-	5	970	c.497G>A	c.(496-498)gGg>gAg	p.G166E	TMTC1_ENST00000552618.1_Missense_Mutation_p.G274E|TMTC1_ENST00000539277.1_Missense_Mutation_p.G274E|TMTC1_ENST00000381224.2_Missense_Mutation_p.G166E|TMTC1_ENST00000551659.1_Missense_Mutation_p.G274E	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	274						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CTGCTGCTTCCCATTCTCCCG	0.642000													11	9					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63973881	63973881	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:63973881G>A	ENST00000398590.3	+	9	1795	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P	ATXN7_ENST00000538065.1_Silent_p.P414P|ATXN7_ENST00000487717.1_Silent_p.P414P|ATXN7_ENST00000484332.1_Silent_p.P269P|ATXN7_ENST00000295900.6_Silent_p.P414P	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	414	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGACCCGCATCCCGCCC	0.512000													5	221					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182468742	182468742	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:182468742C>T	ENST00000410087.3	-	2	403	c.303G>A	c.(301-303)gtG>gtA	p.V101V	CERKL_ENST00000409440.3_Silent_p.V101V|CERKL_ENST00000374970.2_Silent_p.V101V|CERKL_ENST00000339098.5_Silent_p.V101V|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374969.2_Silent_p.V101V	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	101					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTTTCAGTTTCACAGAGAATA	0.308000													13	10					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113798181	113798181	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:113798181G>A	ENST00000375559.3	+	6	557	c.519G>A	c.(517-519)ggG>ggA	p.G173G	F10_ENST00000409306.1_Silent_p.G173G|F10_ENST00000375551.3_Silent_p.G173G	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	173					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCCCTGTGGGAAACAGACCC	0.627000													25	131					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173123	51173123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:51173123C>T	ENST00000440970.1	-	2	3150	c.2719G>A	c.(2719-2721)Gac>Aac	p.D907N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.D1004N	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1004					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)			CCACAAATGTCACAAGCAGTG	0.403000													35	31					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52605076	52605076	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:52605076C>T	ENST00000521776.2	+	2	2869	c.2136C>T	c.(2134-2136)ttC>ttT	p.F712F		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	712					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGAGGGCTTTCCAAAAGCTGA	0.498000													67	182					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97462804	97462804	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:97462804C>T	ENST00000377075.2	+	2	1556	c.1458C>T	c.(1456-1458)ccC>ccT	p.P486P	CNNM4_ENST00000540067.1_5'UTR|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	486	CBS 2.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AGGGTGACCCCTTCTACGAGG	0.587000													20	16					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47879173	47879173	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:47879173C>T	ENST00000289672.2	-	36	5690	c.5640G>A	c.(5638-5640)gtG>gtA	p.V1880V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1880	PLAT.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCTTCACCATCACGTGGCTGA	0.657000													11	5					0	0	1	0	0
NANOG	79923	broad.mit.edu	37	12	7947082	7947082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:7947082G>A	ENST00000229307.4	+	3	663	c.444G>A	c.(442-444)atG>atA	p.M148I	NANOG_ENST00000526286.1_Missense_Mutation_p.M148I	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	148					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		ACCAGAGAATGAAATCTAAGA	0.373000													5	8					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20039417	20039417	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:20039417G>A	ENST00000400230.2	-	9	698	c.654C>T	c.(652-654)gaC>gaT	p.D218D	TPTE2_ENST00000382977.4_Silent_p.D218D|TPTE2_ENST00000382975.4_Silent_p.D178D|TPTE2_ENST00000457266.2_Silent_p.D107D|TPTE2_ENST00000255310.6_Silent_p.D141D|TPTE2_ENST00000400103.2_Silent_p.D107D|TPTE2_ENST00000390680.2_Silent_p.D141D|TPTE2_ENST00000382978.1_Silent_p.D178D			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	218	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D141D(1)|p.D218D(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TGAGGTCTAGGTCAAATCCAT	0.313000													60	7					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47405415	47405415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:47405415C>T	ENST00000295454.3	+	6	917	c.625C>T	c.(625-627)Cct>Tct	p.P209S	GABRB1_ENST00000538619.1_Missense_Mutation_p.P139S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	209					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AATCGAACTTCCTCAATTTTC	0.413000													14	21					0	0	1	0	0
HINT3	135114	broad.mit.edu	37	6	126296113	126296113	+	Silent	SNP	T	T	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:126296113T>C	ENST00000229633.5	+	4	707	c.510T>C	c.(508-510)ttT>ttC	p.F170F		NM_138571.4	NP_612638.3	Q9NQE9	HINT3_HUMAN	histidine triad nucleotide binding protein 3	170						mitochondrion|nucleolus	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|stomach(1)	4				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)		CCTATTGGTTTATCACAGTGA	0.373000													41	8					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98001844	98001844	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:98001844T>G	ENST00000355273.2	+	1	113	c.113T>G	c.(112-114)gTg>gGg	p.V38G	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTGTTCTTGGTGATCTATCTC	0.423000													142	125					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207527785	207527785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:207527785G>A	ENST00000452335.2	-	11	1591	c.1475C>T	c.(1474-1476)cCc>cTc	p.P492L		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	492						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		AACCATTTTGGGGATGTCCTG	0.502000													36	44					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22151093	22151093	+	Silent	SNP	G	G	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:22151093G>C	ENST00000374695.3	-	93	12760	c.12681C>G	c.(12679-12681)ccC>ccG	p.P4227P	HSPG2_ENST00000486901.1_5'UTR|LDLRAD2_ENST00000344642.2_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4227	Laminin G-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGATGGTCTCGGGCACCTCGG	0.647000													26	4					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209950783	209950783	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:209950783C>T	ENST00000367024.1	+	12	1656	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	TRAF3IP3_ENST00000367023.1_Silent_p.C116C|TRAF3IP3_ENST00000367025.3_Silent_p.C380C|TRAF3IP3_ENST00000010338.4_Silent_p.C360C|TRAF3IP3_ENST00000400959.3_Silent_p.C360C|TRAF3IP3_ENST00000477431.1_Silent_p.C116C|TRAF3IP3_ENST00000367026.3_Silent_p.C360C			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	380						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AGATTGAATGCCTGCAAGGGG	0.542000													30	39					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233974	43233974	+	Missense_Mutation	SNP	C	C	T	rs151272583		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:43233974C>T	ENST00000327495.5	-	4	1128	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	PSG3_ENST00000595140.1_Missense_Mutation_p.R315Q	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	315	Ig-like C2-type 2.				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)				GCCACCATATCGGTCCTGTAT	0.483000													69	126					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553816	140553816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:140553816C>T	ENST00000231137.3	+	1	1574	c.1400C>T	c.(1399-1401)gCc>gTc	p.A467V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		467	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAGCCCCGCCCTGCCCATC	0.627000													45	69					0	0	1	0	0
SIT1	27240	broad.mit.edu	37	9	35650624	35650624	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:35650624G>A	ENST00000259608.3	-	2	197	c.111C>T	c.(109-111)tcC>tcT	p.S37S	SIT1_ENST00000474403.1_Intron	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	37					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTGGGTTATGGAGGGGATTC	0.652000													55	3					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105451247	105451247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:105451247G>A	ENST00000337685.2	+	5	2607	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	MUM1L1_ENST00000357175.2_Missense_Mutation_p.E608K|MUM1L1_ENST00000372552.1_Missense_Mutation_p.E608K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	608										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCAGTTGGATGAAGTGGTGAA	0.323000													11	4					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258413	25258413	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:25258413G>A	ENST00000328086.7	-	5	1907	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	368					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGCTATTTCGGGGACAGGCCT	0.458000													49	54					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306689	41306689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:41306689C>T	ENST00000373198.3	-	7	1205	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	PTPRT_ENST00000373201.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E324K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E324K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E324K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E324K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	324	Fibronectin type-III 1.				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)				TATTCCACTTCCTTCAGGATG	0.567000													59	46					0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145698163	145698163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:145698163C>T	ENST00000301331.5	+	11	1103	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	KIFC2_ENST00000301332.2_Intron|KIFC2_ENST00000531423.1_3'UTR			Q96AC6	KIFC2_HUMAN	kinesin family member C2	36	Gln-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			ATGTCGGGCTCGCTCGCCCCT	0.756000													8	14					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36572471	36572471	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:36572471A>G	ENST00000401500.2	+	10	1405	c.1371_splice	c.e10+1	p.N457_splice	WDR62_ENST00000388999.3_Splice_Site_p.N457_splice|WDR62_ENST00000270301.7_Splice_Site_p.N457_splice	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	457					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATCTTCAGCAATGTGAGTGGC	0.473000													30	50					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256482	52256482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:52256482C>T	ENST00000597542.1	-	9	2879	c.1922G>A	c.(1921-1923)gGa>gAa	p.G641E	TLR9_ENST00000360658.2_Missense_Mutation_p.G617E|TLR9_ENST00000494383.1_Silent_p.G770G			Q9NR96	TLR9_HUMAN	toll-like receptor 9	617					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	ATAGAGGTCTCCCTCGGCCCA	0.607000													16	34					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34324132	34324132	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:34324132C>T	ENST00000257209.4	+	20	3614	c.3492C>T	c.(3490-3492)atC>atT	p.I1164I	FHOD3_ENST00000445677.1_Silent_p.I1126I|FHOD3_ENST00000592128.1_Silent_p.I143I|FHOD3_ENST00000359247.4_Silent_p.I1147I|FHOD3_ENST00000590592.1_Silent_p.I1339I|FHOD3_ENST00000591635.1_Silent_p.I360I	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1147	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACTCGGAGATCGGGGCCATCA	0.562000													24	33					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24996708	24996708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:24996708C>T	ENST00000323848.9	+	15	2617	c.2302C>T	c.(2302-2304)Cca>Tca	p.P768S	SRRM1_ENST00000374389.4_Missense_Mutation_p.P777S|SRRM1_ENST00000447431.2_Missense_Mutation_p.P780S|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	768	Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCAGCACCTCCATCCCCCGT	0.582000													79	9					0	0	1	0	0
TRMT44	152992	broad.mit.edu	37	4	8469690	8469690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:8469690C>T	ENST00000389737.4	+	9	1544	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	TRMT44_ENST00000513449.2_Missense_Mutation_p.S274F	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		AGAGAAGCTTCCGTGGATGAA	0.507000													29	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594885	179594885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:179594885G>A	ENST00000589042.1	-	62	18466	c.18242C>T	c.(18241-18243)aCc>aTc	p.T6081I	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T5764I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T4837I|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5764	Ig-like 42.						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)			GCAAATGTAGGTTCCAGAATC	0.468000													24	20					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59547754	59547754	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:59547754G>A	ENST00000038176.3	-	5	539	c.327C>T	c.(325-327)ttC>ttT	p.F109F	NSMAF_ENST00000427130.2_Silent_p.F140F	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	109					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTACCTGACTGAAAATGAGTG	0.294000													19	76					0	0	1	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22434182	22434182	+	RNA	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:22434182G>A	ENST00000390442.3	+	0	291																											TGGTAACAAAGAAGATGGAAG	0.448000													62	69					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216271100	216271100	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:216271100C>T	ENST00000354785.4	-	19	3216	c.2847G>A	c.(2845-2847)gaG>gaA	p.E949E	FN1_ENST00000345488.5_Silent_p.E949E|FN1_ENST00000323926.6_Silent_p.E949E|FN1_ENST00000336916.4_Silent_p.E949E|FN1_ENST00000443816.1_Silent_p.E949E|FN1_ENST00000346544.3_Silent_p.E949E|FN1_ENST00000446046.1_Silent_p.E949E|FN1_ENST00000421182.1_Silent_p.E949E|FN1_ENST00000357009.2_Silent_p.E949E|FN1_ENST00000432072.2_Silent_p.E949E|FN1_ENST00000356005.4_Silent_p.E949E|FN1_ENST00000359671.1_Silent_p.E949E|FN1_ENST00000357867.4_Silent_p.E949E			P02751	FINC_HUMAN	fibronectin 1	949	Fibronectin type-III 4.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTGCCCGTGCTCGCCAGGCA	0.582000													29	20					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134226076	134226076	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:134226076G>C	ENST00000337090.3	+	3	343	c.170G>C	c.(169-171)cGt>cCt	p.R57P	CEP63_ENST00000383229.3_Missense_Mutation_p.R57P|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000354446.3_Missense_Mutation_p.R57P|CEP63_ENST00000513612.2_Missense_Mutation_p.R57P|CEP63_ENST00000606977.1_Missense_Mutation_p.R57P|CEP63_ENST00000332047.5_Missense_Mutation_p.R57P			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	57					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTGAAAATCCGTGAACAGGAA	0.368000													20	37					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32086587	32086587	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:32086587G>A	ENST00000375201.4	-	11	1245	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	ATF6B_ENST00000375203.3_Silent_p.F403F			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	403					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGAAGAGAAGGAAGACCATGA	0.493000													65	420					0	0	1	0	0
SLC10A4	201780	broad.mit.edu	37	4	48486095	48486095	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:48486095C>T	ENST00000273861.4	+	1	736	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	173						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GGCGGTGCTCCTGTGTGGCTG	0.637000													16	14					0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15469800	15469800	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:15469800T>C	ENST00000269701.2	-	13	1661	c.1601A>G	c.(1600-1602)aAg>aGg	p.K534R		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	534					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTCCAGCATCTTCACTATATG	0.443000													32	63					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16510246	16510246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:16510246G>A	ENST00000502640.1	-	7	951	c.803C>T	c.(802-804)tCc>tTc	p.S268F	LDB2_ENST00000515064.1_Missense_Mutation_p.S268F|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000441778.2_Missense_Mutation_p.S268F|LDB2_ENST00000304523.5_Missense_Mutation_p.S268F|LDB2_ENST00000503178.2_Missense_Mutation_p.S144F			O43679	LDB2_HUMAN	LIM domain binding 2	268							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GCTGCTGTTGGAAGTGCTGCT	0.498000													37	34					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806795	143806795	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:143806795G>A	ENST00000408979.2	+	1	189	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCCTGCTGGGGAATGGGGTCA	0.512000													17	90					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114294455	114294455	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:114294455C>T	ENST00000357077.4	+	45	11762	c.11709C>T	c.(11707-11709)atC>atT	p.I3903I	ANK2_ENST00000510275.2_Silent_p.I501I|ANK2_ENST00000509550.1_Silent_p.I994I|ANK2_ENST00000264366.6_Silent_p.I3870I|ANK2_ENST00000506722.1_Silent_p.I1809I|ANK2_ENST00000394537.3_Silent_p.I1818I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3870					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTAGGAAAATCATTAGGCGGT	0.383000													20	31					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101892184	101892184	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:101892184C>T	ENST00000360264.3	+	24	4433	c.4413C>T	c.(4411-4413)ttC>ttT	p.F1471F	CUX1_ENST00000550008.2_Silent_p.F1404F|CUX1_ENST00000292535.7_Silent_p.F1460F|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000546411.2_Silent_p.F1358F|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Silent_p.F1302F|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000549414.2_Silent_p.F1438F	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1460					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						AGAGCCTTTTCGGCCTCCCCG	0.746000													7	4					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951367	10951367	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:10951367G>A	ENST00000298232.7	-	9	658	c.291C>T	c.(289-291)ttC>ttT	p.F97F	TPTE_ENST00000361285.4_Silent_p.F115F|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.F77F	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	115					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCTGTCAGTGAAAATTAGGT	0.313000													41	72					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	989020	989020	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:989020C>T	ENST00000315939.6	+	11	3298	c.2655C>T	c.(2653-2655)atC>atT	p.I885I	WNK1_ENST00000340908.4_Silent_p.I478I|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Silent_p.I1383I	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	885					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAGCTGCGATCCCGGGGGTAT	0.552000													55	57					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272349	52272349	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:52272349C>T	ENST00000598776.1	+	2	1210	c.438C>T	c.(436-438)atC>atT	p.I146I	FPR2_ENST00000340023.6_Silent_p.I146I|FPR2_ENST00000598953.1_Silent_p.I146I	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	146					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGAAGGTGATCGTCGGACCTT	0.478000													27	53					0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127950810	127950810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:127950810C>T	ENST00000335247.7	-	7	992	c.862G>A	c.(862-864)Gag>Aag	p.E288K	CYP27C1_ENST00000409327.1_Missense_Mutation_p.E288K	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	288						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GGCCGGAACTCCTTGGCCCGA	0.552000													27	62					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323969	31323969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:31323969C>T	ENST00000269197.5	+	12	4157	c.4157C>T	c.(4156-4158)tCc>tTc	p.S1386F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCCACTGTATCCATGGGTACC	0.507000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	58					0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886109	57886109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:57886109C>T	ENST00000302610.1	-	1	807	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				ACTTTGTCTTCCTCCAGAGAT	0.458000													42	7					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106461486	106461486	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:106461486G>A	ENST00000261402.2	-	7	2459	c.1080C>T	c.(1078-1080)gtC>gtT	p.V360V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	360							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GCTCTAGCATGACCTCAGAGG	0.552000													25	31					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34110818	34110818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:34110818G>A	ENST00000389232.4	+	76	10709	c.10639G>A	c.(10639-10641)Gaa>Aaa	p.E3547K	RYR3_ENST00000415757.3_Missense_Mutation_p.E3542K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3547					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)		GGAAGAGACAGAAAAACAACC	0.488000													14	18					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83816953	83816953	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:83816953G>A	ENST00000566620.1	+	13	2300	c.2010G>A	c.(2008-2010)acG>acA	p.T670T	CDH13_ENST00000268613.10_Silent_p.T717T|CDH13_ENST00000428848.3_Silent_p.T631T	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	670	Cadherin 5.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CACCCATGACGAATATCACAG	0.522000													24	53					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240635664	240635664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:240635664C>T	ENST00000543681.1	+	2	2673	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	FMN2_ENST00000545751.1_Intron|FMN2_ENST00000319653.9_Intron|AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000496950.1_Intron			Q9NZ56	FMN2_HUMAN	formin 2	1685					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GTGTCTTCTCCCCATCAGAGT	0.343000													35	34					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654908	99654908	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:99654908C>T	ENST00000292450.4	+	2	443	c.279C>T	c.(277-279)ttC>ttT	p.F93F	ZSCAN21_ENST00000456748.2_Silent_p.F93F|ZSCAN21_ENST00000543588.1_Silent_p.F93F|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	93	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGGAGCAGTTCCTGACCATCC	0.632000													24	6					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068272	189068272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:189068272G>A	ENST00000332517.3	+	6	1293	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	385	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAAAATCGGAGATGATTACAG	0.502000													51	42					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058501	79058501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:79058501G>A	ENST00000388820.4	-	19	3962	c.3752C>T	c.(3751-3753)tCc>tTc	p.S1251F		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1251					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ACTAGGAGAGGAGTGGGTGCT	0.657000													11	10					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274079	123274079	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:123274079C>T	ENST00000264501.4	+	81	14243	c.13870C>T	c.(13870-13872)Cga>Tga	p.R4624*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.R4624*			Q2LD37	K1109_HUMAN	KIAA1109	4624					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGCACATCATCGACACTGGCC	0.443000													50	48					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132860462	132860462	+	RNA	SNP	T	T	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:132860462T>G	ENST00000434551.1	+	0	1034					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TCTGAAGAAGTAGAGACAGAT	0.348000													10	1					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27078786	27078786	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:27078786C>T	ENST00000263182.3	+	4	626	c.258C>T	c.(256-258)ttC>ttT	p.F86F	BBOX1_ENST00000529202.1_Silent_p.F86F|BBOX1_ENST00000528583.1_Silent_p.F86F|BBOX1_ENST00000527505.1_3'UTR|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Silent_p.F86F	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	86					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	ACAGTGAATTCCAGGCTGATT	0.408000													70	9					0	0	1	0	0
HOGA1	112817	broad.mit.edu	37	10	99359856	99359856	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:99359856C>T	ENST00000370646.4	+	5	997	c.636C>T	c.(634-636)acC>acT	p.T212T	PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000370649.3_Intron	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						TTCACAAGACCAGGAAGCAGG	0.552000													53	92					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058153	9058153	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:9058153G>A	ENST00000397910.4	-	3	29496	c.29293C>T	c.(29293-29295)Ctg>Ttg	p.L9765L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9767	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						GTCTTCACCAGGCCTGGGAGG	0.488000													28	24					0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	191888302	191888302	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:191888302C>T	ENST00000454309.2	-	4	1383	c.558G>A	c.(556-558)ggG>ggA	p.G186G	FGF12_ENST00000450716.1_Silent_p.G124G|FGF12_ENST00000445105.1_Silent_p.G124G|FGF12_ENST00000430714.1_Silent_p.G87G|FGF12_ENST00000264730.3_Silent_p.G124G	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	186					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)		TCACTCTGTTCCCCTTCATAA	0.423000													109	74					0	0	1	0	0
LRRC37A5P	652972	broad.mit.edu	37	9	114371502	114371502	+	RNA	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:114371502G>A	ENST00000374304.1	-	0	297																											TCGTTGTTGGGGATGAGGGAC	0.502000													23	51					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111164451	111164451	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:111164451C>A	ENST00000360467.5	+	48	5358	c.5052C>A	c.(5050-5052)ttC>ttA	p.F1684L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1684	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGCAGAGCTTCCAGGGCTCGC	0.637000													42	98					9.88483e-10	9.97626e-10	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47874588	47874588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:47874588C>T	ENST00000289672.2	-	39	6154	c.6104G>A	c.(6103-6105)gGa>gAa	p.G2035E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2035					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGTCTGTGCTCCTCCTCTAAG	0.537000													17	71					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043405	56043405	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:56043405C>T	ENST00000313033.2	+	1	377	c.291C>T	c.(289-291)ttC>ttT	p.F97F		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGGTCAATTTCCTGGCAAAAA	0.373000													40	5					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231830229	231830229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:231830229C>T	ENST00000439617.2	+	2	778	c.725C>T	c.(724-726)cCc>cTc	p.P242L	DISC1_ENST00000366633.3_Missense_Mutation_p.P242L|DISC1_ENST00000535983.1_Missense_Mutation_p.P242L|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000317586.4_Missense_Mutation_p.P242L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000539444.1_Missense_Mutation_p.P242L|DISC1_ENST00000366636.4_Missense_Mutation_p.P242L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000537876.1_Missense_Mutation_p.P242L|DISC1_ENST00000602281.1_Missense_Mutation_p.P242L	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	242	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGCCAGAGCCCCCAGGAGATG	0.612000													14	46					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240493991	240493991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:240493991G>A	ENST00000319653.9	+	11	4756	c.4526G>A	c.(4525-4527)gGa>gAa	p.G1509E	FMN2_ENST00000545751.1_Missense_Mutation_p.G105E	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1509	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGACTCGAGGACAGGCAGAT	0.423000													32	30					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151711862	151711862	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:151711862G>A	ENST00000392800.2	+	8	1414	c.1160G>A	c.(1159-1161)tGg>tAg	p.W387*	GALNTL5_ENST00000431418.2_Nonsense_Mutation_p.W387*	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	387						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GTGCACGTTTGGCTGGATGAA	0.473000													39	15					0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093563	69093563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:69093563C>T	ENST00000295379.1	-	2	633	c.475G>A	c.(475-477)Gat>Aat	p.D159N		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	159					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TCTACTCCATCGTATATCATA	0.453000													30	38					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177901873	177901873	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:177901873G>A	ENST00000308284.6	-	23	2981	c.2892C>T	c.(2890-2892)tcC>tcT	p.S964S	SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	964					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCAGAGGTGGGGACTCAGGGG	0.622000													9	18					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926269	1926269	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:1926269G>A	ENST00000399161.2	-	10	2019	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	MYT1L_ENST00000428368.2_Silent_p.F424F	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	424					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGTCATGTCGAACACCTCTT	0.567000													62	37					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47504342	47504342	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:47504342C>T	ENST00000371901.3	+	7	1036	c.786C>T	c.(784-786)atC>atT	p.I262I	CYP4X1_ENST00000466294.1_3'UTR|CYP4X1_ENST00000538609.1_Silent_p.I261I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	262						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ATACAATAATCCAGGAAAGAA	0.388000													14	4					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422812	26422812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:26422812G>A	ENST00000335473.7	+	43	7122	c.6872G>A	c.(6871-6873)aGg>aAg	p.R2291K	MYO18B_ENST00000407587.2_Missense_Mutation_p.R2292K|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2291K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2291						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						ACACTAAGGAGGGGCAGGGCT	0.642000													32	3					0	0	1	0	0
TRGV9	6983	broad.mit.edu	37	7	38356705	38356705	+	RNA	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:38356705C>T	ENST00000444775.2	-	0	1647																											TTTCAGGTATCCTATCCACCT	0.483000													25	6					0	0	1	0	0
DIABLO	56616	broad.mit.edu	37	12	122710559	122710559	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:122710559C>T	ENST00000443649.3	-	2	820	c.3G>A	c.(1-3)atG>atA	p.M1I	DIABLO_ENST00000267169.6_5'UTR|RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000413918.1_Start_Codon_SNP_p.M1I|DIABLO_ENST00000464942.2_5'UTR|DIABLO_ENST00000353548.6_Start_Codon_SNP_p.M1I	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	1					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCAGAGCCGCCATTGTGCAGC	0.682000													7	6					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77171485	77171485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:77171485C>T	ENST00000253506.5	+	2	1579	c.1210C>T	c.(1210-1212)Cct>Tct	p.P404S	NFATC1_ENST00000586434.1_Missense_Mutation_p.P391S|NFATC1_ENST00000542384.1_Missense_Mutation_p.P404S|NFATC1_ENST00000591814.1_Missense_Mutation_p.P404S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000329101.4_Missense_Mutation_p.P391S|NFATC1_ENST00000592223.1_Missense_Mutation_p.P391S|NFATC1_ENST00000427363.2_Missense_Mutation_p.P404S|NFATC1_ENST00000587635.1_Missense_Mutation_p.P404S|NFATC1_ENST00000318065.5_Missense_Mutation_p.P391S	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	404					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCCCCTGTCCCCTACGTCCTA	0.731000													6	4					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35251315	35251315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:35251315G>A	ENST00000329285.7	-	4	764	c.391C>T	c.(391-393)Cag>Tag	p.Q131*		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTCCCTTCCTGAATTTTTATT	0.453000													67	39					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11784548	11784548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:11784548G>A	ENST00000262442.3	+	55	10692	c.10624G>A	c.(10624-10626)Gaa>Aaa	p.E3542K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E3542K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3542	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGAGACAAAGAATGTGAATA	0.453000													28	37					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114170249	114170249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:114170249C>T	ENST00000393081.1	+	8	1047	c.740C>T	c.(739-741)cCt>cTt	p.P247L	ACSL5_ENST00000354273.4_Missense_Mutation_p.P247L|ACSL5_ENST00000369410.3_Missense_Mutation_p.P29L|ACSL5_ENST00000433418.1_Missense_Mutation_p.P247L|ACSL5_ENST00000356116.1_Missense_Mutation_p.P303L|ACSL5_ENST00000354655.4_Missense_Mutation_p.P247L	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	247					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TTCAGAAAACCTGTGGTAAGT	0.443000													13	12					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138425405	138425405	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:138425405C>T	ENST00000409968.1	+	27	4891	c.4713C>T	c.(4711-4713)ttC>ttT	p.F1571F	THSD7B_ENST00000413152.2_Silent_p.F1543F|THSD7B_ENST00000272643.3_Silent_p.F1574F					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCATGATTTTCCTAATATTTA	0.313000													4	11					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87235216	87235216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:87235216C>T	ENST00000297524.3	-	2	905	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Missense_Mutation_p.E259K	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	268						integral to membrane	amino acid transmembrane transporter activity	p.E268K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GAGAGAATTTCCCTGGGTGTC	0.383000													25	58					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133175391	133175391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:133175391G>A	ENST00000329321.3	+	1	1245	c.776G>A	c.(775-777)gGg>gAg	p.G259E		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	259						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTGGCCGGGGGCACGCGG	0.627000													52	46					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42222157	42222157	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:42222157C>T	ENST00000221992.6	+	6	1462	c.1348C>T	c.(1348-1350)Ctg>Ttg	p.L450L	CEACAM5_ENST00000405816.1_Silent_p.L450L|CEACAM5_ENST00000398599.4_Silent_p.L449L|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	450	Ig-like 5.					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)		GTATTCTTGGCTGATTGATGG	0.522000													46	35					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285573	48285573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:48285573C>T	ENST00000320048.1	+	1	161	c.161C>T	c.(160-162)aCc>aTc	p.T54I		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	54					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						AAAGTGCTCACCTCCCCCATG	0.488000													26	7					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28573820	28573820	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:28573820C>T	ENST00000220562.4	+	3	1146	c.244C>T	c.(244-246)Ctg>Ttg	p.L82L	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	82						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CGTGCTGGATCTGTGCCGCAT	0.587000													41	19					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33465810	33465810	+	Missense_Mutation	SNP	G	G	A	rs147925131		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:33465810G>A	ENST00000379471.2	-	19	2537	c.2450C>T	c.(2449-2451)tCg>tTg	p.S817L	NOL6_ENST00000455041.2_Missense_Mutation_p.S765L|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	817					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GTCCCTCAGCGAGATCATCCC	0.592000													28	3					0	0	1	0	0
EFHD1	80303	broad.mit.edu	37	2	233546325	233546325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:233546325G>A	ENST00000264059.3	+	4	1093	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	EFHD1_ENST00000409613.1_Missense_Mutation_p.E110K|EFHD1_ENST00000410095.1_Missense_Mutation_p.E94K|EFHD1_ENST00000409708.1_Missense_Mutation_p.E94K	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	206							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		CAGTAAGTTTGAAGCAGAGTT	0.552000													51	93					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7653912	7653912	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:7653912A>C	ENST00000359156.4	-	3	482	c.280T>G	c.(280-282)Tgt>Ggt	p.C94G	CD163_ENST00000541972.1_Missense_Mutation_p.C82G|CD163_ENST00000396620.3_Missense_Mutation_p.C94G|CD163_ENST00000432237.2_Missense_Mutation_p.C94G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	94	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCAGTTGGACATCCCAGCTGG	0.512000													46	37					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103889	53103889	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:53103889G>A	ENST00000408890.4	+	1	541	c.525G>A	c.(523-525)cgG>cgA	p.R175R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	175										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGCACCCGGGAGACTCTGC	0.716000													4	28					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219752	42219752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:42219752C>T	ENST00000221992.6	+	4	1001	c.887C>T	c.(886-888)tCc>tTc	p.S296F	CEACAM5_ENST00000405816.1_Missense_Mutation_p.S296F|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S296F|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	296	Ig-like 3.					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)		AATAGTGGATCCTATACGTGC	0.478000													22	41					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48277309	48277309	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:48277309C>T	ENST00000225964.5	-	2	222		c.e2-1			NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1						axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ATTGGTGGGACTGGGACAGGC	0.587000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						66	69					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104175794	104175794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:104175794G>A	ENST00000020673.5	-	3	1263	c.737C>T	c.(736-738)tCc>tTc	p.S246F	PSD_ENST00000406432.1_Missense_Mutation_p.S246F	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	246					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)		GGGGTCCAAGGAGCCATAGAA	0.617000													6	12					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48674097	48674097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:48674097C>T	ENST00000352832.5	+	15	3374	c.3002C>T	c.(3001-3003)tCc>tTc	p.S1001F	CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1001F|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1024F|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1001F|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S1024F|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1001F|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1001F|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1001F|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1024F|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1024F|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1001F|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1001F|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1024F|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1024F	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1024					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAGTGGTGTCCCTGGGAGAG	0.662000													18	10					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48809549	48809549	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:48809549C>T	ENST00000309835.3	+	1	1787	c.1777C>T	c.(1777-1779)Ctg>Ttg	p.L593L	STON1-GTF2A1L_ENST00000394754.1_Silent_p.L593L|STON1-GTF2A1L_ENST00000405008.1_Silent_p.L593L|STON1_ENST00000406226.1_Silent_p.L593L|STON1-GTF2A1L_ENST00000402114.2_Silent_p.L593L|STON1_ENST00000404752.1_Silent_p.L593L|STON1-GTF2A1L_ENST00000394751.3_Silent_p.L593L|STON1-GTF2A1L_ENST00000309827.2_Silent_p.L593L					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCAGAAGTCTCTGAAAGCTAA	0.473000													30	65					0	0	1	0	0
NUB1	51667	broad.mit.edu	37	7	151074236	151074236	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:151074236G>A	ENST00000568733.1	+	15	1911	c.1845G>A	c.(1843-1845)ctG>ctA	p.L615L	NUB1_ENST00000566856.1_Silent_p.L577L|NUB1_ENST00000413040.2_Silent_p.L601L|NUB1_ENST00000355851.4_Silent_p.L591L|WDR86_ENST00000463000.1_Intron			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	591					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ACTCAACTCTGGAAGATGAAG	0.393000													3	2					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35402016	35402016	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:35402016C>T	ENST00000453357.2	+	1	107	c.51C>T	c.(49-51)tcC>tcT	p.S17S	UNC5D_ENST00000404895.2_Intron|UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	0					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)		CTGGGACTTCCGGGTTCCTGT	0.428000													35	54					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4119180	4119180	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:4119180G>A	ENST00000404826.2	+	22	3427	c.3288G>A	c.(3286-3288)ggG>ggA	p.G1096G	SDK1_ENST00000389531.3_Silent_p.G1096G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1096	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCTATGACGGGAAAACGTCCA	0.572000													19	87					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129704369	129704369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:129704369G>A	ENST00000421865.2	+	35	5111	c.5062G>A	c.(5062-5064)Gat>Aat	p.D1688N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1688	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTTGCCCGGGATGCAGAAGG	0.443000													33	5					0	0	1	0	0
PTTG1IP	754	broad.mit.edu	37	21	46276172	46276172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:46276172G>A	ENST00000330938.3	-	4	605	c.385C>T	c.(385-387)Ccg>Tcg	p.P129S	PTTG1IP_ENST00000397886.3_Missense_Mutation_p.P108S|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	129					protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		CTCCTGTCCGGCTTCCGGCTC	0.627000													50	34					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424264	56424264	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:56424264G>A	ENST00000588751.1	-	5	943	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	NLRP13_ENST00000342929.3_Silent_p.L307L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	307	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATAATAAACAGGAGCTTCTCT	0.448000													26	27					0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435781	5435781	+	Missense_Mutation	SNP	G	G	A	rs148029829		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:5435781G>A	ENST00000380419.3	-	4	1077	c.1040C>T	c.(1039-1041)tCt>tTt	p.S347F	TUBAL3_ENST00000479328.1_Missense_Mutation_p.S307F	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	347					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.S347F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						AAACTGAACAGAGTGCCTCGA	0.577000													17	23					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610836	50610836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:50610836G>A	ENST00000371824.1	+	2	474	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ELAVL4_ENST00000357083.4_Missense_Mutation_p.E90K|ELAVL4_ENST00000371827.1_Missense_Mutation_p.E73K|ELAVL4_ENST00000448907.2_Missense_Mutation_p.E76K|ELAVL4_ENST00000371819.1_Missense_Mutation_p.E78K|ELAVL4_ENST00000371821.1_Missense_Mutation_p.E78K|ELAVL4_ENST00000371823.4_Missense_Mutation_p.E73K|ELAVL4_ENST00000492299.1_3'UTR			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	73	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TGGTGAAATAGAATCCTGCAA	0.413000													55	4					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9922071	9922071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:9922071G>A	ENST00000506583.1	-	9	1070	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	SLC2A9_ENST00000309065.3_Missense_Mutation_p.R285C|SLC2A9_ENST00000264784.3_Missense_Mutation_p.R314C			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	314					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ACCTGCCAGCGGACGTAGGGA	0.627000													16	16					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51751179	51751179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:51751179C>T	ENST00000543196.2	-	9	1761	c.1556G>A	c.(1555-1557)gGg>gAg	p.G519E	GALNT6_ENST00000356317.3_Missense_Mutation_p.G519E			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	519	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GAGGGGCTTCCCCCCGCGGTT	0.602000													21	29					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067275	9067275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:9067275G>A	ENST00000397910.4	-	3	20374	c.20171C>T	c.(20170-20172)tCc>tTc	p.S6724F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6726	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						AATGCCAAGGGAGATAGGCAG	0.483000													93	210					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86877370	86877370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:86877370G>A	ENST00000373119.4	+	5	1229	c.1084G>A	c.(1084-1086)Gga>Aga	p.G362R	KLHL4_ENST00000373114.4_Missense_Mutation_p.G362R	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	362						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						GAATAGGCAAGGAGAACTGGG	0.418000													46	17					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232600814	232600814	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:232600814G>A	ENST00000366630.1	-	8	2950	c.2592C>T	c.(2590-2592)ttC>ttT	p.F864F	SIPA1L2_ENST00000262861.4_Silent_p.F864F			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	864					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGACTGGCCGAAGTCCCGGG	0.473000													49	108					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103257169	103257169	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:103257169C>T	ENST00000376052.3	+	2	208	c.192C>T	c.(190-192)atC>atT	p.I64I	TPP2_ENST00000376065.4_Silent_p.I64I			P29144	TPP2_HUMAN	tripeptidyl peptidase II	64					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACCAAAAATCGTTGATATCA	0.343000													21	85					0	0	1	0	0
EXOSC9	5393	broad.mit.edu	37	4	122728701	122728701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:122728701C>T	ENST00000512454.1	+	5	697	c.481C>T	c.(481-483)Cct>Tct	p.P161S	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Missense_Mutation_p.P177S|EXOSC9_ENST00000379663.3_Missense_Mutation_p.P177S			Q06265	EXOS9_HUMAN	exosome component 9	177	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						ACAGTATACACCTGAAGAGCG	0.363000													25	24					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135452	126135452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:126135452G>A	ENST00000299308.3	+	7	1860	c.1852G>A	c.(1852-1854)Gac>Aac	p.D618N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D130N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	618						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCAGTTACAGGACGGCAGGAC	0.597000													18	25					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328230	3328230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:3328230C>T	ENST00000378398.3	+	10	1554	c.1472C>T	c.(1471-1473)cCc>cTc	p.P491L	PRDM16_ENST00000378391.2_Missense_Mutation_p.P490L|PRDM16_ENST00000442529.2_Missense_Mutation_p.P490L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P490L|PRDM16_ENST00000514189.1_Missense_Mutation_p.P491L|PRDM16_ENST00000511072.1_Missense_Mutation_p.P491L|PRDM16_ENST00000270722.5_Missense_Mutation_p.P490L|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	490	Pro-rich.			S -> Y (in Ref. 2; AAG33382).	brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GAGTACTTTCCCTCCAGGCCG	0.667000			T	EVI1	"""MDS, AML"""								79	7					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206730	104206730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:104206730G>A	ENST00000202556.9	-	12	2305	c.2023C>T	c.(2023-2025)Ctc>Ttc	p.L675F	PPP1R13B_ENST00000423488.2_Missense_Mutation_p.L94F|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	675	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ATGGGCGTGAGCTTGGTGGGG	0.657000													51	83					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102906	22102906	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:22102906G>A	ENST00000542433.1	-	1	190	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGACCAGGAAGAGGAGGCTTC	0.502000													47	47					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49072962	49072962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:49072962C>T	ENST00000376265.2	-	27	3210	c.3149G>A	c.(3148-3150)gGa>gAa	p.G1050E	CACNA1F_ENST00000323022.5_Missense_Mutation_p.G1039E|CACNA1F_ENST00000376251.1_Missense_Mutation_p.G985E	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1050					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGACACGTCTCCATCTGGGTA	0.567000													9	0					0	0	1	0	0
IGHD	3495	broad.mit.edu	37	14	106307359	106307359	+	RNA	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:106307359G>A	ENST00000390556.2	-	0	678																											CTGGCTCTGGGAGCCGTTGCT	0.677000													4	5					0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46307396	46307396	+	Silent	SNP	C	C	T	rs76939117		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:46307396C>T	ENST00000357422.2	+	4	1290	c.747C>T	c.(745-747)ttC>ttT	p.F249F	CCR3_ENST00000545097.1_Silent_p.F270F|CCR3_ENST00000395942.2_Silent_p.F249F|CCR3_ENST00000541018.1_Silent_p.F249F|CCR3_ENST00000395940.2_Silent_p.F249F			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	249					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CGGTGTTTTTCATTTTCTGGA	0.458000													46	30					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53162536	53162536	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:53162536G>A	ENST00000332411.2	-	9	1931	c.1878C>T	c.(1876-1878)tcC>tcT	p.S626S		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	626	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCGTGGTCTGGGAGAAGCGGA	0.542000													43	69					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590660	179590660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:179590660C>T	ENST00000589042.1	-	70	20613	c.20389G>A	c.(20389-20391)Gac>Aac	p.D6797N	TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D6480N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D5553N|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6480	Ig-like 49.						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)			TGCCGCTTGTCTTTGTACCAT	0.428000													20	32					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942268	6942268	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:6942268G>A	ENST00000317834.3	+	1	64	c.36G>A	c.(34-36)caG>caA	p.Q12Q		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGGTAAACAGGCAAAAATAT	0.403000													25	0					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374648	163374648	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:163374648A>T	ENST00000332142.5	-	4	583	c.484T>A	c.(484-486)Ttc>Atc	p.F162I	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.F162I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	162					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AGACCAGGGAATTTGAACCCA	0.383000													36	40					0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587483	36587483	+	Silent	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:36587483A>G	ENST00000332987.1	-	7	1106	c.684T>C	c.(682-684)ttT>ttC	p.F228F	APOL4_ENST00000352371.1_Silent_p.F231F|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000404685.3_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	232					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						AATCAAGTGCAAAAGAAAGCA	0.478000													54	5					0	0	1	0	0
ATIC	471	broad.mit.edu	37	2	216184408	216184408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:216184408C>T	ENST00000435675.1	+	3	632	c.241C>T	c.(241-243)Cca>Tca	p.P81S	ATIC_ENST00000236959.9_Missense_Mutation_p.P82S|ATIC_ENST00000540518.1_Missense_Mutation_p.P23S			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	82					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	TCGTAATATTCCAGAAGATAA	0.313000			T	ALK	ALCL								13	41					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938438	38938438	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:38938438C>T	ENST00000450244.1	-	14	2499	c.2301G>A	c.(2299-2301)ggG>ggA	p.G767G	SCN11A_ENST00000456224.3_Silent_p.G767G|SCN11A_ENST00000302328.3_Silent_p.G767G|SCN11A_ENST00000444237.2_Silent_p.G767G			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	767					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)	CGATCCATTCCCCGCAGAGGA	0.468000													35	21					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30136170	30136170	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:30136170C>T	ENST00000376694.4	+	3	1040	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	191					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GCTGGCCAGGCTGAGGGAGCT	0.547000													48	30					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87792381	87792381	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:87792381G>A	ENST00000398204.4	+	23	2285	c.1962G>A	c.(1960-1962)ggG>ggA	p.G654G	ADAM22_ENST00000265727.7_Silent_p.G654G|ADAM22_ENST00000398201.4_Silent_p.G654G|ADAM22_ENST00000315984.7_Silent_p.G654G|ADAM22_ENST00000398209.3_Silent_p.G654G	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	654	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGGAAGATGGGACACCTTGTG	0.398000													9	69					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117964918	117964918	+	Silent	SNP	T	T	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:117964918T>C	ENST00000425217.1	-	13	1776	c.1722A>G	c.(1720-1722)gaA>gaG	p.E574E	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Silent_p.E603E|KSR2_ENST00000302438.5_Silent_p.E300E	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	603					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGGATTTCCTTCCAAGCTGT	0.438000													61	74					0	0	1	0	0
DYNAP	284254	broad.mit.edu	37	18	52265188	52265188	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:52265188C>T	ENST00000321600.1	+	3	491	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	DYNAP_ENST00000585973.1_Nonsense_Mutation_p.Q97*	NM_173629.1	NP_775900.1			dynactin associated protein																		CATTGTTATCCAGCTATCCAC	0.453000													13	21					0	0	1	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830121	26830121	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:26830121C>T	ENST00000215906.5	+	2	978	c.540C>T	c.(538-540)tcC>tcT	p.S180S		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	180					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CCTATTTCTCCCGGGACGCAC	0.587000													34	3					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41447102	41447102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:41447102C>T	ENST00000400454.1	-	27	5227	c.4750G>A	c.(4750-4752)Gaa>Aaa	p.E1584K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1584					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)				AGCCCTTCTTCGTTTTGGACA	0.527000													28	25					0	0	1	0	0
FAM71C	196472	broad.mit.edu	37	12	100042400	100042400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:100042400C>T	ENST00000324341.1	+	1	870	c.448C>T	c.(448-450)Ctt>Ttt	p.L150F	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	150										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CTCTTTTTATCTTCAGCTGTG	0.468000													13	25					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24888627	24888627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:24888627G>A	ENST00000347898.3	+	7	1148	c.526G>A	c.(526-528)Gat>Aat	p.D176N	SLC5A11_ENST00000449109.2_Missense_Mutation_p.D112N|SLC5A11_ENST00000545376.1_Missense_Mutation_p.D106N|SLC5A11_ENST00000539472.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000565769.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000567758.1_Missense_Mutation_p.D141N|SLC5A11_ENST00000568579.1_Missense_Mutation_p.D106N|SLC5A11_ENST00000424767.2_Missense_Mutation_p.D141N|SLC5A11_ENST00000569071.1_Missense_Mutation_p.D112N	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	176					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTTGCACCTGGATCTGTACCT	0.483000													101	191					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26818473	26818473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:26818473C>T	ENST00000444914.3	+	5	1160	c.740C>T	c.(739-741)cCt>cTt	p.P247L	SLC13A2_ENST00000314669.5_Missense_Mutation_p.P198L|SLC13A2_ENST00000545060.1_Missense_Mutation_p.P155L|SLC13A2_ENST00000537681.1_Missense_Mutation_p.P127L	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	198						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGGCCCTCCCTGTCACGTCT	0.652000													17	35					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22563708	22563708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:22563708C>T	ENST00000419308.2	-	2	356	c.154G>A	c.(154-156)Ggc>Agc	p.G52S	FOXA2_ENST00000319993.4_Missense_Mutation_p.G58S|FOXA2_ENST00000377115.4_Missense_Mutation_p.G52S	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	52	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GAGCCGCTGCCCATGGCGGCC	0.682000													31	74					0	0	1	0	0
ACTR10	55860	broad.mit.edu	37	14	58675766	58675766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:58675766G>A	ENST00000254286.4	+	4	363	c.283G>A	c.(283-285)Gta>Ata	p.V95I		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	95						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						TATCGAATCGGTATTATGTCC	0.333000													34	44					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103001376	103001376	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:103001376G>A	ENST00000409599.1	+	8	1083	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	IL18R1_ENST00000233957.1_Missense_Mutation_p.E243K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	243	Ig-like C2-type 3.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTTGCTGAATGAAGAGGATGT	0.333000													29	59					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11416268	11416268	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:11416268G>A	ENST00000423059.3	-	27	5069	c.4818C>T	c.(4816-4818)acC>acT	p.T1606T	AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000421121.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1606						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CGTAAACCCAGGTCTTTAGTC	0.348000										HNSCC(18;0.044)			3	2					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48756172	48756172	+	Silent	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:48756172A>G	ENST00000316623.5	-	41	5444	c.4989T>C	c.(4987-4989)tgT>tgC	p.C1663C		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1663	EGF-like 28; calcium-binding.		C -> R (in MFS).|C -> Y (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGGTGTTGTAACATGTCCCTG	0.408000													15	27					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103001406	103001406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:103001406G>A	ENST00000409599.1	+	8	1113	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	IL18R1_ENST00000233957.1_Missense_Mutation_p.E253K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	253	Ig-like C2-type 3.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GATGTTCGGGGAAGAAAATGG	0.328000													25	47					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19674039	19674039	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:19674039C>T	ENST00000328041.6	+	13	1658	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	487						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CGCTGTGGATCGCAGCCTTCT	0.502000													27	31					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102894633	102894633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:102894633C>T	ENST00000359520.7	+	7	1224	c.998C>T	c.(997-999)tCg>tTg	p.S333L	TECPR2_ENST00000558678.1_Missense_Mutation_p.S333L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	333							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GTGTCTGTTTCGTGCACAGAA	0.323000													12	14					0	0	1	0	0
LOC653786	653786	broad.mit.edu	37	16	22563741	22563741	+	RNA	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:22563741G>A	ENST00000550753.1	+	0	1396					NR_003676.2																						TTCCAAGATGGCCAGGACCCT	0.448000													17	99					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417743	150417743	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:150417743C>T	ENST00000307194.5	+	3	791	c.651C>T	c.(649-651)ggC>ggT	p.G217G		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)		AGCACAAGGGCGCCCATTACT	0.697000													10	2					0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115581954	115581954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:115581954C>T	ENST00000265440.7	-	7	836	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	TFEC_ENST00000320239.7_Missense_Mutation_p.R190Q|TFEC_ENST00000484212.1_Missense_Mutation_p.R309Q|TFEC_ENST00000457268.1_Missense_Mutation_p.R152Q|TFEC_ENST00000393485.1_Missense_Mutation_p.R190Q	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	219						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			AACCTGAATCCGAAGTAGAAG	0.398000													55	24					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39041297	39041297	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:39041297G>A	ENST00000167588.3	-	1	182	c.141C>T	c.(139-141)tcC>tcT	p.S47S		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	47	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GTCTGGAGTTGGAGATGCGGA	0.597000													27	47					0	0	1	0	0
SERPINB10	5273	broad.mit.edu	37	18	61585198	61585198	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:61585198G>A	ENST00000238508.3	+	4	293		c.e4-1			NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CTCTTTTAAAGGAATTCAACT	0.338000													15	16					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90036050	90036050	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:90036050G>A	ENST00000428670.3	-	3	747	c.291C>T	c.(289-291)acC>acT	p.T97T	ATP2B1_ENST00000359142.3_Silent_p.T97T|ATP2B1_ENST00000348959.3_Silent_p.T97T|ATP2B1_ENST00000261173.2_Silent_p.T97T			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	97					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ATTGAAGAAAGGTTTTTGGCT	0.333000													88	129					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131519695	131519695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:131519695C>T	ENST00000423981.1	+	2	160	c.50C>T	c.(49-51)tCc>tTc	p.S17F	AMER3_ENST00000321420.4_Missense_Mutation_p.S17F	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CTGCAGGTTTCCCACGAGAAA	0.617000													15	15					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65270363	65270363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:65270363C>T	ENST00000389722.3	-	3	489	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	SPTB_ENST00000556626.1_Missense_Mutation_p.V146I|SPTB_ENST00000542895.1_Missense_Mutation_p.V146I|SPTB_ENST00000389720.3_Missense_Mutation_p.V146I|SPTB_ENST00000389721.5_Missense_Mutation_p.V146I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	146	Actin-binding.|CH 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGGCCCAGGACCAGGCGGTGG	0.597000													26	36					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49061780	49061780	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:49061780G>A	ENST00000376265.2	-	48	5812	c.5751C>T	c.(5749-5751)ttC>ttT	p.F1917F	CACNA1F_ENST00000323022.5_Silent_p.F1906F|CACNA1F_ENST00000376251.1_Silent_p.F1852F	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1917					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCAGGGCCACGAAACGTGGGT	0.602000													11	2					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756887	71756887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:71756887C>T	ENST00000318442.5	-	2	927	c.437G>A	c.(436-438)gGg>gAg	p.G146E		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGGCTTGCCCCCAAAGTGTTC	0.617000													52	78					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14030636	14030636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:14030636C>T	ENST00000318003.7	+	12	1469	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P410S	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	410					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCCAGGCTTCCCCCCAATCCA	0.587000													26	25					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70980945	70980945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:70980945G>A	ENST00000334414.6	-	9	2197	c.2153C>T	c.(2152-2154)tCc>tTc	p.S718F	PTPRB_ENST00000451516.2_Missense_Mutation_p.S410F|PTPRB_ENST00000261266.5_Missense_Mutation_p.S500F|PTPRB_ENST00000551525.1_Missense_Mutation_p.S717F|PTPRB_ENST00000550857.1_Missense_Mutation_p.S410F|PTPRB_ENST00000550358.1_Missense_Mutation_p.S718F|PTPRB_ENST00000538708.1_Missense_Mutation_p.S500F|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	500	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)			GTCAGCTAGGGAAATGATGTA	0.478000													24	26					0	0	1	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38411538	38411538	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:38411538G>A	ENST00000377694.1	-	4	718	c.696C>T	c.(694-696)ccC>ccT	p.P232P		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	232	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CCTTTCGCAGGGGGTTGATCT	0.448000													31	1					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495596	179495596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:179495596C>T	ENST00000589042.1	-	238	44313	c.44089G>A	c.(44089-44091)Gaa>Aaa	p.E14697K	TTN_ENST00000460472.2_Missense_Mutation_p.E5632K|TTN_ENST00000359218.5_Missense_Mutation_p.E5757K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E13056K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12129K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5824K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13056	Ig-like 96.						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)			TCAGAGATTTCGGTTTCAAAG	0.493000													38	73					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20384232	20384232	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:20384232G>A	ENST00000302451.4	-	7	1058	c.810C>T	c.(808-810)tcC>tcT	p.S270S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	270					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGTGCAACTCGGAAATCAGAT	0.458000													22	47					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78656104	78656104	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:78656104A>T	ENST00000436010.2	-	27	5403	c.4406T>A	c.(4405-4407)gTg>gAg	p.V1469E	ROBO1_ENST00000464233.1_Missense_Mutation_p.V1508E|ROBO1_ENST00000467549.1_Missense_Mutation_p.V1408E|ROBO1_ENST00000495273.1_Missense_Mutation_p.V1463E|ROBO1_ENST00000466906.1_5'UTR			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1508					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GAGTTTTGGCACCACTACAGG	0.473000													93	76					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43319199	43319199	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:43319199C>A	ENST00000380486.3	-	13	2074	c.1833G>T	c.(1831-1833)atG>atT	p.M611I	C2CD2_ENST00000329623.7_Missense_Mutation_p.M456I	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	611						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CCAAGACACTCATGGAGCTCT	0.632000													43	47					3.76604e-16	3.82446e-16	1	1	0
CD163	9332	broad.mit.edu	37	12	7653843	7653843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:7653843G>A	ENST00000359156.4	-	3	551	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	CD163_ENST00000541972.1_Missense_Mutation_p.H105Y|CD163_ENST00000396620.3_Missense_Mutation_p.H117Y|CD163_ENST00000432237.2_Missense_Mutation_p.H117Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	117	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAAGAAACATGATCCATCCAA	0.483000													58	56					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70520836	70520836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:70520836C>T	ENST00000265872.6	+	16	2112	c.1993C>T	c.(1993-1995)Cga>Tga	p.R665*	CCAR1_ENST00000543719.1_Nonsense_Mutation_p.R650*|CCAR1_ENST00000535016.1_Nonsense_Mutation_p.R650*	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	665	SAP.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	p.R665R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GTTAATAGCCCGATTGACAAA	0.368000													15	22					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770022	53770022	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:53770022C>T	ENST00000311170.4	-	1	950	c.897G>A	c.(895-897)tgG>tgA	p.W299*		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	299					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GTCATCTTTTCCAGGCAAAAC	0.403000										HNSCC(26;0.072)			10	24					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164786616	164786616	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:164786616A>G	ENST00000264382.3	-	5	439	c.377T>C	c.(376-378)gTt>gCt	p.V126A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	126	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTTGGCTTCAACTCCTTAAAG	0.318000										HNSCC(35;0.089)			25	42					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398303	23398303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:23398303G>A	ENST00000379361.4	+	2	1807	c.947G>A	c.(946-948)gGg>gAg	p.G316E		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	316	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ACTGCAGCCGGGATCATCAAT	0.522000													58	8					0	0	1	0	0
NBEAP1	606	broad.mit.edu	37	15	20874853	20874853	+	RNA	SNP	T	T	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:20874853T>A	ENST00000556948.1	-	0	395																											CCAGTAGTAATATTTTAAGGT	0.333000													13	104					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15600105	15600105	+	Missense_Mutation	SNP	C	C	T	rs138187704		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:15600105C>T	ENST00000378076.3	-	26	3087	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	912					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTGTGGAATTCGACCACATGT	0.498000													36	31					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56755153	56755153	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:56755153A>G	ENST00000267460.4	+	4	595		c.e4-1			NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2						innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TGATTTACTTAGGTGGGCAGA	0.438000													8	9					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43319197	43319197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:43319197C>T	ENST00000380486.3	-	13	2076	c.1835G>A	c.(1834-1836)aGt>aAt	p.S612N	C2CD2_ENST00000329623.7_Missense_Mutation_p.S457N	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	612						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CTCCAAGACACTCATGGAGCT	0.632000													45	45					0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096889	73096889	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:73096889C>T	ENST00000450736.2	+	4	1546	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	SLC16A5_ENST00000580123.1_Silent_p.F377F|SLC16A5_ENST00000329783.4_Silent_p.F377F|SLC16A5_ENST00000538213.2_Silent_p.F417F			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	377					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCCTTGCTTTCCTCATCTCCC	0.597000													5	9					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65105286	65105286	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:65105286G>A	ENST00000358691.5	-	29	4601	c.4435C>T	c.(4435-4437)Ctg>Ttg	p.L1479L	HELZ_ENST00000580168.1_Silent_p.L1480L	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AAGCTATTCAGATGTGAAGGA	0.488000													30	40					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97271121	97271121	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:97271121G>A	ENST00000599854.1	-	15	2075	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Silent_p.S443S|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000431828.1_Silent_p.S623S	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	649																	GGGAGATAAGGGACACCTTGA	0.527000													51	36					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116620569	116620569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:116620569C>T	ENST00000369248.4	+	15	2344	c.2009C>T	c.(2008-2010)cCa>cTa	p.P670L	FAM160B1_ENST00000369250.3_Missense_Mutation_p.P670L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	670										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TTCCCTCATCCACACATCCAC	0.388000													47	63					0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160970542	160970542	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:160970542G>A	ENST00000368026.6	-	4	541	c.267C>T	c.(265-267)ttC>ttT	p.F89F	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Intron|F11R_ENST00000472573.1_5'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	89	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CAGTTGGCAAGAAGGTCACCC	0.542000													54	44					0	0	1	0	0
PIGT	51604	broad.mit.edu	37	20	44054260	44054260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:44054260G>A	ENST00000279036.6	+	12	1611	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	PIGT_ENST00000341555.5_Missense_Mutation_p.E317K|PIGT_ENST00000279035.9_Missense_Mutation_p.E409K|PIGT_ENST00000535404.1_Missense_Mutation_p.E356K|PIGT_ENST00000545755.1_Missense_Mutation_p.E249K|PIGT_ENST00000372689.5_Missense_Mutation_p.E444K|PIGT_ENST00000543458.2_Missense_Mutation_p.E455K	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	511					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GCTCTACACGGAGCCGCTGCT	0.597000													9	30					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174606552	174606552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:174606552C>T	ENST00000251507.4	+	14	1924	c.1750C>T	c.(1750-1752)Cgt>Tgt	p.R584C		NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	584	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AGATATTCATCGTACATTTCC	0.358000													14	46					0	0	1	0	0
SCCPDH	51097	broad.mit.edu	37	1	246921631	246921631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:246921631C>T	ENST00000366510.3	+	6	1044	c.668C>T	c.(667-669)cCg>cTg	p.P223L		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	223						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		AAACCTGTCCCGCTCATTGGT	0.323000													22	29					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987899	61987899	+	Silent	SNP	C	C	T	rs35490558		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:61987899C>T	ENST00000392824.4	-	2	457	c.396G>A	c.(394-396)agG>agA	p.R132R	CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_5'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TAGGCTTCTTCCTAGGGGAAG	0.507000													37	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075800	9075800	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:9075800G>A	ENST00000397910.4	-	3	11849	c.11646C>T	c.(11644-11646)atC>atT	p.I3882I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3883	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						TCATCTCAGTGATCCAAGGTG	0.448000													22	26					0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160560827	160560827	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:160560827C>A	ENST00000366963.4	+	7	1351	c.1204C>A	c.(1204-1206)Cgc>Agc	p.R402S	SLC22A1_ENST00000457470.2_Missense_Mutation_p.R402S|SLC22A1_ENST00000324965.4_Missense_Mutation_p.R402S	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	402						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCGCGTGGGCCGCATCTACCC	0.557000													3	54					0.00024832	0.000249081	1	1	0
SIN3B	23309	broad.mit.edu	37	19	16942440	16942440	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:16942440G>T	ENST00000379803.1	+	3	377	c.363G>T	c.(361-363)caG>caT	p.Q121H	SIN3B_ENST00000596802.1_Missense_Mutation_p.Q121H|SIN3B_ENST00000248054.5_Missense_Mutation_p.Q121H	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	121					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TAAACATACAGTCGCCTCTGA	0.502000													27	58					2.2171e-23	2.25616e-23	1	1	0
KIF13A	63971	broad.mit.edu	37	6	17772250	17772250	+	Silent	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:17772250A>G	ENST00000378814.5	-	36	4325	c.4326T>C	c.(4324-4326)ccT>ccC	p.P1442P	KIF13A_ENST00000259711.6_Silent_p.P1455P|KIF13A_ENST00000378826.2_Silent_p.P1455P|KIF13A_ENST00000378843.2_Silent_p.P1442P|KIF13A_ENST00000378816.5_Silent_p.P1455P	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1455					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATGCTTTAAAAGGGCTGACGG	0.443000													4	238					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784267	82784267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:82784267C>T	ENST00000423517.2	-	2	2027	c.1690G>A	c.(1690-1692)Gga>Aga	p.G564R	PCLO_ENST00000333891.8_Missense_Mutation_p.G564R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	510	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAGGTTTTCCAGATCCTGTT	0.507000													50	333					0	0	1	0	0
FCGR1A	2209	broad.mit.edu	37	1	149759964	149759964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:149759964G>A	ENST00000369168.4	+	4	404	c.350G>A	c.(349-351)gGa>gAa	p.G117E	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	117	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTCACGGAAGGAGAACCTCTG	0.463000													68	82					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12121632	12121632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:12121632C>T	ENST00000379388.2	+	4	1936	c.1604C>T	c.(1603-1605)cCa>cTa	p.P535L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	535					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)				AGCTTCACTCCAAGCAGTCCA	0.458000													17	48					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111846817	111846817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:111846817G>A	ENST00000421043.1	+	1	66	c.46G>A	c.(46-48)Gac>Aac	p.D16N	ZNF277_ENST00000361822.3_Missense_Mutation_p.D16N|ZNF277_ENST00000450657.1_Missense_Mutation_p.D16N			Q9NRM2	ZN277_HUMAN	zinc finger protein 277	16						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AATGCAGGAAGACCGTGATGG	0.642000													17	10					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31855414	31855414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:31855414G>A	ENST00000395728.3	-	14	2121	c.2122C>T	c.(2122-2124)Cct>Tct	p.P708S	EHMT2_ENST00000375537.4_Missense_Mutation_p.P651S|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.P674S|EHMT2_ENST00000375530.4_Missense_Mutation_p.P617S			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	651					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AACTGCCGAGGGTGGAAACGG	0.602000													128	646					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941120	22941120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:22941120G>A	ENST00000397104.3	-	5	1317	c.1318C>T	c.(1318-1320)Cat>Tat	p.H440Y	ZNF99_ENST00000596209.1_Missense_Mutation_p.H531Y					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)				TTTCCAGTATGAATTATCTTA	0.343000													5	23					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52964456	52964456	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:52964456G>A	ENST00000549343.1	-	5	1043	c.1005C>T	c.(1003-1005)acC>acT	p.T335T	KRT74_ENST00000305620.2_Silent_p.T335T			Q7RTS7	K2C74_HUMAN	keratin 74	335	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGACCACCTTGGTCTGGTACA	0.592000													13	16					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33468379	33468379	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:33468379G>A	ENST00000379471.2	-	10	1335	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	NOL6_ENST00000455041.2_Silent_p.F356F|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	416					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGGAATCCAGGAAGACAACGG	0.577000													10	14					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736306	140736306	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:140736306C>T	ENST00000571252.1	+	1	1539	c.1539C>T	c.(1537-1539)atC>atT	p.I513I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACAGGGATCCTATATGCTC	0.522000													63	85					0	0	1	0	0
NPIPB5	100132247	broad.mit.edu	37	16	22545868	22545868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:22545868C>T	ENST00000424340.1	+	7	1843	c.1564C>T	c.(1564-1566)Ctt>Ttt	p.L522F	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.L522F	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		GCTCACTGCCCTTCCACCCTC	0.572000													32	270					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5763361	5763361	+	Silent	SNP	G	G	A	rs149797529	by1000genomes	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:5763361G>A	ENST00000414202.2	+	19	2525	c.2334G>A	c.(2332-2334)ccG>ccA	p.P778P	KIAA1432_ENST00000418622.3_Silent_p.P699P|KIAA1432_ENST00000251879.6_Silent_p.P778P|KIAA1432_ENST00000449720.2_Silent_p.P662P|KIAA1432_ENST00000381532.2_Silent_p.P699P	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	778						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ACATTTACCCGCTAGCTGTTC	0.473000													165	16					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142741865	142741865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:142741865C>T	ENST00000473835.2	+	12	1279	c.1189C>T	c.(1189-1191)Cct>Tct	p.P397S	U2SURP_ENST00000397933.2_Silent_p.L2L|U2SURP_ENST00000493598.2_Missense_Mutation_p.P396S	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	397	Pro-rich.				RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CCCTAATGCTCCTATGTTACC	0.423000													5	8					0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095585	145095585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:145095585C>T	ENST00000377470.3	+	3	985	c.883C>T	c.(883-885)Ccc>Tcc	p.P295S	SPATC1_ENST00000447830.2_Missense_Mutation_p.P295S	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	295										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACACCTGCTCCCAAGACGGC	0.657000													25	71					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158686990	158686990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:158686990G>A	ENST00000368146.1	-	1	963	c.964C>T	c.(964-966)Ctt>Ttt	p.L322F	OR6K3_ENST00000368145.1_Missense_Mutation_p.L306F			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ACTTTTTGAAGACAGAACAGT	0.383000													69	91					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11687808	11687808	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:11687808C>T	ENST00000262442.3	+	41	8081	c.8013C>T	c.(8011-8013)atC>atT	p.I2671I	DNAH9_ENST00000454412.2_Silent_p.I2671I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2671	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACAGGAATCAAATTCCACT	0.512000													79	81					0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96730346	96730346	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:96730346C>T	ENST00000216629.6	+	3	933	c.327C>T	c.(325-327)ctC>ctT	p.L109L	BDKRB1_ENST00000553356.1_Silent_p.L109L|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	109					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		GAGCCCTCCTCTGCCGTGTCA	0.567000													31	42					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74477560	74477560	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:74477560G>A	ENST00000394019.2	-	17	1960	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	SLC4A5_ENST00000357822.5_Silent_p.S521S|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Silent_p.S521S|SLC4A5_ENST00000377632.1_Silent_p.S521S|SLC4A5_ENST00000377634.4_Silent_p.S521S|SLC4A5_ENST00000359484.4_Silent_p.S457S|SLC4A5_ENST00000346834.4_Silent_p.S521S|SLC4A5_ENST00000358683.4_Silent_p.S457S	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	521						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGGCAGAGATGGACTGAATGT	0.527000											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	114	84					0	0	1	0	0
GABRR3	200959	broad.mit.edu	37	3	97731241	97731241	+	RNA	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:97731241C>T	ENST00000472788.1	-	0	478					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						TGATATTCTCCATAGTTGTAT	0.443000													25	23					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50052215	50052215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:50052215C>T	ENST00000376042.1	+	6	1344	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S349L|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	349					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTGAAGAAATCATTGGCCTTG	0.433000													35	4					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813565	24813565	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:24813565A>G	ENST00000376451.2	+	8	2079	c.1819A>G	c.(1819-1821)Acc>Gcc	p.T607A	KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000307544.6_Missense_Mutation_p.T607A|KIAA1217_ENST00000396446.1_Missense_Mutation_p.T607A|KIAA1217_ENST00000376454.3_Missense_Mutation_p.T924A|KIAA1217_ENST00000376452.3_Missense_Mutation_p.T889A|KIAA1217_ENST00000396445.1_Missense_Mutation_p.T607A|KIAA1217_ENST00000376462.1_Missense_Mutation_p.T844A|KIAA1217_ENST00000458595.1_Missense_Mutation_p.T889A			Q5T5P2	SKT_HUMAN	KIAA1217	924					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCAGGAAGCAACCTCCACTCT	0.602000													19	21					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582906	55582906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:55582906G>A	ENST00000361849.3	-	34	4980	c.4586C>T	c.(4585-4587)cCc>cTc	p.P1529L	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1504L|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1524L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1487L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1527L|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1458L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1527					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTATAAAGGGGATTATGGGC	0.368000										HNSCC(58;0.16)			32	41					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33374158	33374158	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:33374158C>T	ENST00000428849.2	+	8	2172	c.1722C>T	c.(1720-1722)ccC>ccT	p.P574P		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	574	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	p.P574P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GACTTGACCCCGGCTTAGCCC	0.642000													226	101					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699262	48699262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:48699262G>A	ENST00000544264.1	-	1	1086	c.806C>T	c.(805-807)cCc>cTc	p.P269L	CELSR3_ENST00000164024.4_Missense_Mutation_p.P269L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	269					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCGGCTCGGGAGCTGTCCG	0.741000													28	44					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42028727	42028727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:42028727C>T	ENST00000219905.7	+	13	4446	c.4265C>T	c.(4264-4266)tCc>tTc	p.S1422F	MGA_ENST00000545763.1_Missense_Mutation_p.S1422F|MGA_ENST00000389936.4_Missense_Mutation_p.S1422F|MGA_ENST00000570161.1_Missense_Mutation_p.S1422F|MGA_ENST00000566586.1_Missense_Mutation_p.S1422F	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1422						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)		GGTCCATTGTCCCCTGGGAAA	0.468000													22	25					0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444036	82444036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:82444036G>A	ENST00000268206.7	-	18	2927	c.2759C>T	c.(2758-2760)aCc>aTc	p.T920I	EFTUD1_ENST00000359445.3_Missense_Mutation_p.T869I	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	920					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						ACCAGAACAGGTTTCATTTTC	0.453000													5	111					0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15106407	15106407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:15106407G>A	ENST00000378217.3	+	6	654	c.467G>A	c.(466-468)gGa>gAa	p.G156E	OLAH_ENST00000378228.3_Missense_Mutation_p.G103E	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	103					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TTTAGTATGGGATCCTACATT	0.358000													13	30					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811623	23811623	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:23811623A>T	ENST00000314520.3	+	1	1170	c.694A>T	c.(694-696)Agg>Tgg	p.R232W	MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	232						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGAGACTGAGAGGAAGCAGAT	0.577000													19	22					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272861	28272861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:28272861G>A	ENST00000305242.5	-	6	822	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C	ARMC4_ENST00000239715.3_Missense_Mutation_p.R101C	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	244							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATTTCCCCACGAATTTGTCTC	0.403000													16	19					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860876	16860876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:16860876G>A	ENST00000524140.2	+	6	1841	c.1423G>A	c.(1423-1425)Gtt>Att	p.V475I	NWD1_ENST00000552788.1_Missense_Mutation_p.V475I|NWD1_ENST00000523826.1_Missense_Mutation_p.V269I|NWD1_ENST00000379808.3_Missense_Mutation_p.V475I|NWD1_ENST00000339803.6_Missense_Mutation_p.V340I|NWD1_ENST00000549814.1_Missense_Mutation_p.V475I	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	475	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGCACTGGGGGTTTTGGACAC	0.642000													52	52					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94744970	94744970	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:94744970C>T	ENST00000304338.3	+	25	2766	c.2612C>T	c.(2611-2613)tCc>tTc	p.S871F		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	871						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TCCAGAAAATCCAATCCTTAA	0.408000													10	7					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263725	140263725	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:140263725G>A	ENST00000289272.2	+	1	1872	c.1872G>A	c.(1870-1872)gtG>gtA	p.V624V	PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.V624V|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTCCGCGTGGGGCTGTACA	0.682000													39	57					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825533	26825533	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:26825533C>T	ENST00000541819.2	-	7	885	c.783G>A	c.(781-783)agG>agA	p.R261R	GABRB3_ENST00000311550.5_Silent_p.R205R|GABRB3_ENST00000299267.4_Silent_p.R205R|GABRB3_ENST00000545868.1_Silent_p.R120R|GABRB3_ENST00000400188.3_Silent_p.R134R			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	205					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGAGCTCAATCCTTTCCACTC	0.547000													29	44					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132207717	132207717	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:132207717C>T	ENST00000360971.2	+	24	2480	c.2460C>T	c.(2458-2460)atC>atT	p.I820I		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	820	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GAAGAGTCATCCGTAACCAAG	0.333000													21	1					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108380560	108380560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:108380560C>T	ENST00000265843.4	-	6	5784	c.5674G>A	c.(5674-5676)Gaa>Aaa	p.E1892K	EXPH5_ENST00000443411.1_Missense_Mutation_p.E1704K|EXPH5_ENST00000525344.1_Missense_Mutation_p.E1885K|EXPH5_ENST00000428840.1_Missense_Mutation_p.E1816K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1892					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACTGTTGTTCTTTCCCAAAG	0.398000													39	4					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180151404	180151404	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:180151404C>T	ENST00000367602.3	+	6	776	c.702C>T	c.(700-702)ttC>ttT	p.F234F	QSOX1_ENST00000367600.5_Silent_p.F234F			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	234					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCACCGACTTCCCCTCTTGCT	0.607000													64	131					0	0	1	0	0
FAM218A	152756	broad.mit.edu	37	4	165878301	165878301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:165878301C>T	ENST00000513876.2	+	1	202	c.127C>T	c.(127-129)Cct>Tct	p.P43S	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	CD039_HUMAN	family with sequence similarity 218, member A	43																	TTCGGGTCTCCCTAACAGACC	0.642000													5	8					0	0	1	0	0
SCARNA2	677766	broad.mit.edu	37	1	109643093	109643093	+	RNA	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:109643093C>T	ENST00000458748.1	+	0	279					NR_003023.1																						GCAGCGAGGCCCCTTAGGCGG	0.672000													13	0					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18324247	18324247	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:18324247G>A	ENST00000355502.3	-	17	2410	c.1539C>T	c.(1537-1539)acC>acT	p.T513T	PDE4C_ENST00000447275.2_Silent_p.T407T|PDE4C_ENST00000262805.11_Silent_p.T481T|PDE4C_ENST00000594617.2_Silent_p.T513T|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Silent_p.T513T|PDE4C_ENST00000539010.1_Silent_p.T282T			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	513					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TCTCCACCATGGTCTTGAGGT	0.607000													16	14					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6606657	6606657	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:6606657C>T	ENST00000321612.6	-	5	798	c.648G>A	c.(646-648)agG>agA	p.R216R		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	216					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)	GAAATTTCCTCCTCTTGTTGT	0.393000													42	9					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962649	69962649	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:69962649G>C	ENST00000305231.7	+	1	457	c.411G>C	c.(409-411)atG>atC	p.M137I	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.M137I	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	137					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			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						AGAAATTTATGAAAAAAGTAC	0.323000													23	24					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101362337	101362337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:101362337G>A	ENST00000344327.3	-	3	1502	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	TRPC6_ENST00000532133.1_Missense_Mutation_p.R360C|TRPC6_ENST00000360497.4_Missense_Mutation_p.R360C|TRPC6_ENST00000348423.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	360					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGATTTGGGCGACCGTGATCA	0.438000													59	10					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669854	24669854	+	Silent	SNP	C	C	T	rs41277414	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:24669854C>T	ENST00000376454.3	+	3	441	c.411C>T	c.(409-411)gtC>gtT	p.V137V	KIAA1217_ENST00000430453.2_Silent_p.V58V|KIAA1217_ENST00000376452.3_Silent_p.V137V|KIAA1217_ENST00000376462.1_Silent_p.V57V|KIAA1217_ENST00000458595.1_Silent_p.V137V	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	137					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTGACCCGGTCGAGCATTTAT	0.512000													29	35					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53585398	53585398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:53585398C>T	ENST00000267082.5	-	16	2570	c.2339G>A	c.(2338-2340)aGt>aAt	p.S780N	ITGB7_ENST00000422257.3_Missense_Mutation_p.S780N|ITGB7_ENST00000338737.4_Missense_Mutation_p.S632N|ITGB7_ENST00000550743.2_Missense_Mutation_p.S632N	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	780					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGTGATGGCACTTTTGTAGAG	0.498000													31	40					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117342593	117342593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:117342593C>T	ENST00000321322.6	-	15	3125	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E772K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	982	Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGGCCTCCTCAGTGCTGATG	0.582000													105	14					0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44763572	44763572	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:44763572C>T	ENST00000296091.4	+	4	1519	c.1263C>T	c.(1261-1263)tgC>tgT	p.C421C	ZNF502_ENST00000436624.2_Silent_p.C421C|ZNF502_ENST00000449836.1_Silent_p.C421C	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		AGAGCATTTGCCTTATTCGGC	0.438000													16	20					0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825180	52825180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:52825180C>T	ENST00000595962.1	+	5	743	c.677C>T	c.(676-678)aCt>aTt	p.T226I	ZNF480_ENST00000335090.6_Missense_Mutation_p.T149I|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.T183I	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GTAATCCATACTGTAGAGAAA	0.368000													32	27					0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57302486	57302486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:57302486G>A	ENST00000288266.3	+	21	2101	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	652	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		gcaacagaaagaactcaataa	0.308000													6	7					0	0	1	0	0
TMEM128	85013	broad.mit.edu	37	4	4248017	4248017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:4248017G>A	ENST00000254742.2	-	2	665	c.79C>T	c.(79-81)Cat>Tat	p.H27Y	TMEM128_ENST00000540397.1_Missense_Mutation_p.H51Y|TMEM128_ENST00000538516.1_Missense_Mutation_p.H51Y|TMEM128_ENST00000382753.4_Missense_Mutation_p.H51Y	NM_032927.2	NP_116316.1	Q5BJH2	TM128_HUMAN	transmembrane protein 128	51						integral to membrane				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		AATCCAGAATGGATATTAAGT	0.358000													27	28					0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	109964349	109964349	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:109964349T>C	ENST00000309415.6	+	2	793	c.793T>C	c.(793-795)Tat>Cat	p.Y265H		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	265	SH3 2.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AAAAGCACTTTATGATTTCGA	0.607000													8	14					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108642007	108642007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:108642007G>A	ENST00000332082.4	+	10	2403	c.1585G>A	c.(1585-1587)Gac>Aac	p.D529N	WSCD2_ENST00000547525.1_Missense_Mutation_p.D529N|WSCD2_ENST00000261400.3_Missense_Mutation_p.D549N|WSCD2_ENST00000549903.1_Missense_Mutation_p.D549N			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	529						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCTCGAGTATGACCCCTATAC	0.592000													31	27					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17999160	17999160	+	Missense_Mutation	SNP	G	G	A	rs145168559		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:17999160G>A	ENST00000222248.3	+	13	1894	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	516					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GACGCCAGCCGACCCGCCTTA	0.577000													37	73					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118701	194118701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:194118701C>T	ENST00000401815.1	-	1	382	c.311G>A	c.(310-312)aGg>aAg	p.R104K	GP5_ENST00000323007.3_Missense_Mutation_p.R104K			P40197	GPV_HUMAN	glycoprotein V (platelet)	104					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCGCGACAGCCTCAGGGTTTT	0.557000													37	82					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7948633	7948633	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:7948633C>T	ENST00000380183.4	+	7	1066	c.927C>T	c.(925-927)ttC>ttT	p.F309F	ALOX15B_ENST00000380173.2_Silent_p.F309F|ALOX15B_ENST00000573359.1_Silent_p.F309F|ALOX15B_ENST00000572022.1_Silent_p.F309F	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	309	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						AGCCTCAGTTCTCTGCGGCCC	0.602000													34	31					0	0	1	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74531550	74531550	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:74531550C>G	ENST00000553458.1	-	11	1576	c.1478G>C	c.(1477-1479)gGa>gCa	p.G493A	AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000394009.3_3'UTR|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.G480A|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.G210A|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	493						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	ATTGGTGTCTCCCCTGAAGGA	0.403000													15	17					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100482740	100482740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:100482740G>A	ENST00000279907.7	-	8	1186	c.974C>T	c.(973-975)tCt>tTt	p.S325F	UHRF1BP1L_ENST00000545232.2_5'UTR|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.S325F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	325										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						ATCTAGATGAGAAATCACTAA	0.308000													14	16					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172579019	172579019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:172579019C>T	ENST00000367723.3	+	23	3965	c.3841C>T	c.(3841-3843)Ccc>Tcc	p.P1281S	SUCO_ENST00000263688.3_Missense_Mutation_p.P1129S	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		ACCATTGCACCCCATAGCCAA	0.373000													22	67					0	0	1	0	0
GCNT2	2651	broad.mit.edu	37	6	10586508	10586508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:10586508C>T	ENST00000265012.4	+	1	530	c.286C>T	c.(286-288)Cct>Tct	p.P96S	GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	96						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GGCTGCATTCCCTTTGGCCTA	0.453000													28	84					0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44305163	44305163	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:44305163C>T	ENST00000264664.4	-	3	675	c.561G>A	c.(559-561)agG>agA	p.R187R		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	187					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TCTGTCCTCTCCTTGGAGCTC	0.433000													47	68					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25916990	25916990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:25916990G>A	ENST00000377850.3	-	8	1377	c.853C>T	c.(853-855)Cat>Tat	p.H285Y	SLC17A2_ENST00000360488.3_Missense_Mutation_p.H285Y|SLC17A2_ENST00000265425.3_Missense_Mutation_p.H285Y			O00624	NPT3_HUMAN	solute carrier family 17, member 2	285					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AACCAGAAATGGCTGAAAAAA	0.448000													46	77					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90002069	90002069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:90002069C>T	ENST00000405460.2	+	38	8684	c.8588C>T	c.(8587-8589)aCc>aTc	p.T2863I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2863					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)		GTCACATATACCACGGTTCCT	0.348000													16	9					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10452473	10452473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:10452473C>T	ENST00000397077.1	-	5	801	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	ATP2B2_ENST00000383800.4_Missense_Mutation_p.E76K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E76K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E76K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E76K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	76					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TTTCTCTTTTCCAGGTCTGGA	0.547000													123	134					0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147688	100147688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:100147688G>A	ENST00000231461.5	-	5	1253	c.943C>T	c.(943-945)Cat>Tat	p.H315Y		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	315					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCATAATAATGATATTTGACC	0.358000													10	19					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95001390	95001390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:95001390G>A	ENST00000357742.4	+	19	2275	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K	MCTP2_ENST00000451018.3_Missense_Mutation_p.E704K	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	759					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGGGTTGATTGAAAGAATCTA	0.299000													17	14					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48595627	48595627	+	Silent	SNP	A	A	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:48595627A>T	ENST00000262384.3	-	2	1163	c.927T>A	c.(925-927)atT>atA	p.I309I	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	309					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CATCGTGTAAAATCTCCCCCT	0.363000													40	72					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237732446	237732446	+	Splice_Site	SNP	C	C	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:237732446C>A	ENST00000366574.2	+	29	3742	c.3423_splice	c.e29-1	p.A1142_splice	RYR2_ENST00000542537.1_Splice_Site_p.A1126_splice|RYR2_ENST00000360064.6_Splice_Site_p.A1140_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1142	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A1140D(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGTATAGGCCCAGCGGTGG	0.527000													5	46					1.23904e-05	1.24538e-05	1	1	0
UGT1A1	54658	broad.mit.edu	37	2	234669287	234669287	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:234669287G>A	ENST00000360418.3	+	1	354	c.354G>A	c.(352-354)aaG>aaA	p.K118K	UGT1A4_ENST00000373409.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000305208.5_Silent_p.K118K|UGT1A8_ENST00000373450.4_Intron			P22309	UD11_HUMAN		118					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AAATAAAAAAGGACTCTGCTA	0.448000													34	57					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237755070	237755070	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:237755070A>C	ENST00000366574.2	+	32	4509	c.4192A>C	c.(4192-4194)Agc>Cgc	p.S1398R	RYR2_ENST00000542537.1_Missense_Mutation_p.S1382R|RYR2_ENST00000360064.6_Missense_Mutation_p.S1396R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1398	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCAGATTACAGCACAAGCCA	0.388000													9	12					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36656027	36656027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:36656027G>A	ENST00000431169.1	-	11	1105	c.805C>T	c.(805-807)Cac>Tac	p.H269Y	AOAH_ENST00000535891.1_Missense_Mutation_p.H237Y|AOAH_ENST00000258749.5_Missense_Mutation_p.H269Y	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	269					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GGAGAGATGTGAAAATGAGCC	0.433000													14	6					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36896895	36896895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:36896895G>A	ENST00000301807.6	-	12	4433	c.2536C>T	c.(2536-2538)Caa>Taa	p.Q846*	TRANK1_ENST00000429976.2_Nonsense_Mutation_p.Q1396*|TRANK1_ENST00000428977.2_Nonsense_Mutation_p.Q846*	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1396					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTAAAGTCTTGAATCTCATCA	0.522000													65	142					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247599273	247599273	+	Splice_Site	SNP	T	T	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:247599273T>C	ENST00000336119.3	+	6	3246	c.2498_splice	c.e6-1	p.L834_splice	NLRP3_ENST00000391827.2_Splice_Site_p.L777_splice|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Splice_Site_p.L834_splice|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000366496.2_Intron	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	834					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			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)			CTATGGAAGGTTGGTCAGCTG	0.527000													36	62					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10570295	10570295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:10570295C>T	ENST00000380702.2	+	11	1159	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	PDE4A_ENST00000440014.2_Missense_Mutation_p.R348C|PDE4A_ENST00000344979.3_Missense_Mutation_p.R170C|PDE4A_ENST00000592685.1_Missense_Mutation_p.R387C|PDE4A_ENST00000293683.5_Missense_Mutation_p.R383C|PDE4A_ENST00000352831.6_Missense_Mutation_p.R409C			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	409	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GAAGAAATTCCGCATCCCTGT	0.637000													21	15					0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102792980	102792980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:102792980G>A	ENST00000410023.1	+	12	1789	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	IL1R1_ENST00000409929.1_Missense_Mutation_p.E460K|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_Missense_Mutation_p.E491K|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409589.1_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	491	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GCTTGAGCTGGAGAAAATCCA	0.443000													12	24					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62212314	62212314	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:62212314G>A	ENST00000261517.5	-	57	7502	c.7429C>T	c.(7429-7431)Cta>Tta	p.L2477L	VPS13C_ENST00000395896.4_Silent_p.L2477L|VPS13C_ENST00000249837.3_Silent_p.L2434L|VPS13C_ENST00000395898.3_Silent_p.L2434L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2477					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						AATATAGATAGGTTCCCTTGA	0.433000													23	34					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99605676	99605676	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:99605676G>T	ENST00000373034.4	-	4	4318	c.2643C>A	c.(2641-2643)aaC>aaA	p.N881K	PCDH19_ENST00000420881.2_Missense_Mutation_p.N834K|PCDH19_ENST00000255531.7_Missense_Mutation_p.N834K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	881					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TATTCACGTAGTTGGAGTCAA	0.338000													13	1					3.03607e-14	3.0768e-14	1	1	0
IQGAP3	128239	broad.mit.edu	37	1	156526411	156526411	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:156526411A>G	ENST00000361170.2	-	12	1214	c.1204T>C	c.(1204-1206)Tgc>Cgc	p.C402R		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	402					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTCAGGGCACATCAGCTCC	0.602000													22	41					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33409464	33409464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:33409464C>T	ENST00000418600.2	+	13	2323	c.2222C>T	c.(2221-2223)cCc>cTc	p.P741L	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P741L|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P682L	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	741					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						AGTGAGCGGCCCCGGCCTCAG	0.647000													7	93					0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448624	52448624	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:52448624A>T	ENST00000293471.6	+	6	2167	c.1488A>T	c.(1486-1488)aaA>aaT	p.K496N	ZNF613_ENST00000391794.4_Missense_Mutation_p.K460N|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TCAGAGATAAATCATGTCTCA	0.453000													17	24					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881835	69881835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:69881835C>T	ENST00000358913.5	+	2	1128	c.640C>T	c.(640-642)Cct>Tct	p.P214S	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.P214S|MYPN_ENST00000373675.3_Missense_Mutation_p.P214S	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	214	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TGTTCCCATCCCTATCCCTGC	0.507000													19	17					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156741394	156741394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:156741394G>A	ENST00000347377.6	+	12	1584	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E310K|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E59K|CYFIP2_ENST00000522463.1_Missense_Mutation_p.E189K|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E385K|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E385K|CYFIP2_ENST00000521420.1_Missense_Mutation_p.E359K	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	385					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCAGACGAGGAGTATCGCGA	0.567000													83	95					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187516857	187516857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:187516857G>A	ENST00000441802.2	-	26	13333	c.13124C>T	c.(13123-13125)tCg>tTg	p.S4375L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4375					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTCATCGCACGATTCGGACTG	0.512000										HNSCC(5;0.00058)			35	39					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65682665	65682665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:65682665G>A	ENST00000352385.2	-	13	2445	c.2236C>T	c.(2236-2238)Cag>Tag	p.Q746*		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	746						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGTCCCCTCTGGATAGGCATG	0.498000													12	18					0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81791270	81791270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:81791270C>T	ENST00000358105.3	+	4	506	c.457C>T	c.(457-459)Cca>Tca	p.P153S	C4orf22_ENST00000508675.1_Missense_Mutation_p.P170S	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	153										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AAGACTTCTTCCAAGGCCTAC	0.373000													31	31					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155314037	155314037	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:155314037C>T	ENST00000460012.1	-	3	477	c.120G>A	c.(118-120)aaG>aaA	p.K40K	PLCH1_ENST00000340059.7_Silent_p.K58K|PLCH1_ENST00000494598.1_Silent_p.K58K|PLCH1_ENST00000334686.6_Silent_p.K40K|PLCH1_ENST00000447496.2_Silent_p.K58K|PLCH1_ENST00000414191.1_Silent_p.K40K			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	58	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCTTCTCACTCTTCCTAGAGG	0.483000													121	97					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361686	105361686	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:105361686C>T	ENST00000297581.2	+	2	955	c.906C>T	c.(904-906)atC>atT	p.I302I	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	302					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CCATACTTATCCATCTCTGCA	0.468000													95	184					0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72667298	72667298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:72667298G>A	ENST00000373514.2	+	1	209	c.209G>A	c.(208-210)gGa>gAa	p.G70E		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	70						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CCGTCTCTGGGAGTCTGGGGC	0.597000													9	9					0	0	1	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234618	26234618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:26234618G>A	ENST00000244534.5	-	1	598	c.544C>T	c.(544-546)Cag>Tag	p.Q182*		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	182					nucleosome assembly	nucleosome|nucleus	DNA binding	p.Q182*(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTTTTTGGCTGAGGTGTTTTC	0.502000													42	274					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202715368	202715368	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:202715368G>A	ENST00000367265.3	-	15	3264	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	KDM5B_ENST00000367264.2_Silent_p.F736F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	700					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGGCAGACATGAAGCATGTAG	0.393000													43	55					0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15469802	15469802	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:15469802C>T	ENST00000269701.2	-	13	1659	c.1599G>A	c.(1597-1599)gtG>gtA	p.V533V		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	533					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CCAGCATCTTCACTATATGTC	0.438000													31	62					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164737452	164737452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:164737452C>T	ENST00000264382.3	-	28	3423	c.3361G>A	c.(3361-3363)Gca>Aca	p.A1121T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1121	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CGCTTAAATGCTGTATGTTCC	0.438000										HNSCC(35;0.089)			43	32					0	0	1	0	0
ZNF114	163071	broad.mit.edu	37	19	48789585	48789585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:48789585C>T	ENST00000595607.1	+	6	1198	c.704C>T	c.(703-705)tCc>tTc	p.S235F	ZNF114_ENST00000600687.1_Missense_Mutation_p.S235F|ZNF114_ENST00000597695.1_Missense_Mutation_p.S201F|ZNF114_ENST00000315849.1_Missense_Mutation_p.S235F			Q8NC26	ZN114_HUMAN	zinc finger protein 114	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		GAAGACGGATCCCTTAGGGCA	0.473000													25	78					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122399901	122399901	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:122399901C>T	ENST00000474629.2	+	1	437	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TCCTGGTGTTCTTCTACCCGG	0.672000													17	40					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160718131	160718131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:160718131G>A	ENST00000368043.3	+	2	240	c.203G>A	c.(202-204)gGc>gAc	p.G68D	SLAMF7_ENST00000444090.2_Missense_Mutation_p.G68D|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000359331.4_Missense_Mutation_p.G68D|SLAMF7_ENST00000488819.1_3'UTR|SLAMF7_ENST00000441662.2_Missense_Mutation_p.G68D|SLAMF7_ENST00000368042.3_Intron	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	68					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCAGAAGGGGGCACTATCATA	0.498000													24	41					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98256641	98256641	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:98256641C>T	ENST00000265634.3	+	4	1218	c.1053C>T	c.(1051-1053)atC>atT	p.I351I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	351	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCGTGCTGATCCTTGGACAAG	0.672000													4	31					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51769459	51769459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:51769459C>T	ENST00000374056.4	+	7	1903	c.1505C>T	c.(1504-1506)cCa>cTa	p.P502L	AGAP6_ENST00000412531.3_Missense_Mutation_p.P525L			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	525					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GATGACTGGCCAGTTGAGCTC	0.527000													91	82					0	0	1	0	0
ACTL6A	86	broad.mit.edu	37	3	179292229	179292229	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:179292229C>T	ENST00000429709.2	+	5	663	c.450C>T	c.(448-450)ttC>ttT	p.F150F	ACTL6A_ENST00000392662.1_Silent_p.F108F|ACTL6A_ENST00000450518.2_Silent_p.F108F	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	150					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			CTGCCTTCTTCCTTTGCAAAA	0.388000													90	80					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237794791	237794791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:237794791G>A	ENST00000366574.2	+	42	6822	c.6505G>A	c.(6505-6507)Gag>Aag	p.E2169K	RYR2_ENST00000542537.1_Missense_Mutation_p.E2153K|RYR2_ENST00000360064.6_Missense_Mutation_p.E2167K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2169	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E2167*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGGATGCACGAGACTGTGAT	0.458000													8	37					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3477212	3477212	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:3477212G>A	ENST00000174621.6	-	12	2101	c.1812C>T	c.(1810-1812)tcC>tcT	p.S604S	SHPK_ENST00000572705.1_Silent_p.S606S|TRPV1_ENST00000310522.5_Silent_p.S546S|TRPV1_ENST00000399759.3_Silent_p.S606S|TRPV1_ENST00000571088.1_Silent_p.S606S|TRPV1_ENST00000399756.4_Silent_p.S606S|TRPV1_ENST00000425167.2_Silent_p.S617S|TRPV1_ENST00000576351.1_Silent_p.S596S			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	606					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CAGACGGCAGGGAGTCATTCT	0.622000													7	13					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2813131	2813131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:2813131C>T	ENST00000602557.1	-	65	10532	c.9977G>A	c.(9976-9978)gGa>gAa	p.G3326E	CSMD1_ENST00000537824.1_Missense_Mutation_p.G3325E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3149E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3148E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G3149E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3326E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3326	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGCGACTTTCCTGTCCATTT	0.488000													38	30					0	0	1	0	0
FGL1	2267	broad.mit.edu	37	8	17722261	17722261	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:17722261C>T	ENST00000398056.2	-	10	1595		c.e10-1		FGL1_ENST00000381841.2_Splice_Site|FGL1_ENST00000522444.1_Splice_Site|FGL1_ENST00000381840.2_Splice_Site|FGL1_ENST00000518650.1_Splice_Site|FGL1_ENST00000427924.1_Splice_Site|FGL1_ENST00000398054.1_Splice_Site			Q08830	FGL1_HUMAN	fibrinogen-like 1						signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		AGAGTGACACCTAGTGGAAGG	0.403000													5	18					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175116109	175116109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:175116109C>T	ENST00000239462.4	+	19	3915	c.3802C>T	c.(3802-3804)Cct>Tct	p.P1268S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1268	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATTCTCCATTCCTTACGTGGA	0.517000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	46					0	0	1	0	0
COL10A1	1300	broad.mit.edu	37	6	116442622	116442622	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:116442622C>T	ENST00000327673.4	-	2	1064	c.657G>A	c.(655-657)gtG>gtA	p.V219V	AL121963.1_ENST00000430695.1_Intron|NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.V219V			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	219	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CTCTTTTTCCCACTCCAGGAG	0.572000													28	3					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25770660	25770660	+	Missense_Mutation	SNP	C	C	T	rs140215842		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:25770660C>T	ENST00000377905.4	+	5	699	c.580C>T	c.(580-582)Cca>Tca	p.P194S	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	194					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGGGCTCCCCCACTGGAAAG	0.463000													33	246					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18968229	18968229	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:18968229T>G	ENST00000262803.5	+	15	2341	c.2069T>G	c.(2068-2070)gTg>gGg	p.V690G	UPF1_ENST00000599848.1_Missense_Mutation_p.V701G	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	701					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGCCTGGTGGTGCTGGGCATC	0.637000													18	41					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962926	69962926	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:69962926A>G	ENST00000305231.7	+	1	734	c.688A>G	c.(688-690)Aag>Gag	p.K230E	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.K230E	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	230					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			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						ATTTGACATGAAGAAGTGGGA	0.313000													11	32					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100175416	100175416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:100175416G>A	ENST00000317233.4	-	21	3441	c.3206C>T	c.(3205-3207)gCc>gTc	p.A1069V	AFF3_ENST00000409579.1_Missense_Mutation_p.A1094V|AFF3_ENST00000356421.2_Missense_Mutation_p.A1094V|AFF3_ENST00000409236.1_Missense_Mutation_p.A1069V	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1069					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GTACAGGAGGGCCAGGCATCG	0.468000											OREG0014830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	24					0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756191	183756191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:183756191C>T	ENST00000382489.3	+	7	914	c.914C>T	c.(913-915)cCt>cTt	p.P305L	HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000428798.2_Intron|HTR3D_ENST00000334128.2_Intron	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	305						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	p.P305L(1)|p.?(1)		large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACCCCCTTGCCTGCAGGTGTC	0.582000													32	34					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633874	70633874	+	Silent	SNP	C	C	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:70633874C>A	ENST00000381269.2	-	2	2019	c.1266G>T	c.(1264-1266)ggG>ggT	p.G422G	SLC8A3_ENST00000534137.1_Silent_p.G422G|SLC8A3_ENST00000356921.2_Silent_p.G422G|SLC8A3_ENST00000357887.3_Silent_p.G422G|SLC8A3_ENST00000528359.1_Silent_p.G422G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	422	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACATGTCTCCCCCTTTCCTCA	0.502000													4	103					0.184627	0.184816	1	1	0
AIRE	326	broad.mit.edu	37	21	45716284	45716284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:45716284G>A	ENST00000291582.5	+	13	1649	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	AIRE_ENST00000355347.4_Missense_Mutation_p.E301K|AIRE_ENST00000329347.4_3'UTR	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	508					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TGCCAGTCACGAGCCCGCTCT	0.662000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				29	71					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77896788	77896788	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:77896788G>A	ENST00000302536.2	+	4	875		c.e4+1		VAT1L_ENST00000563850.1_Splice_Site	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like								oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AAGTTAAAAGGTAAGATGTTT	0.408000													34	27					0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100028647	100028647	+	Silent	SNP	C	C	T	rs140364891		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:100028647C>T	ENST00000310512.2	+	1	1394	c.1006C>T	c.(1006-1008)Ctg>Ttg	p.L336L	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	336							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCATCTGCTCTGCAGGGTCC	0.612000													123	40					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28842289	28842289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:28842289C>T	ENST00000336783.4	+	10	1384	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	ATXN2L_ENST00000340394.8_Missense_Mutation_p.S406F|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Missense_Mutation_p.S406F|ATXN2L_ENST00000564304.1_Missense_Mutation_p.S406F|ATXN2L_ENST00000395547.2_Missense_Mutation_p.S406F|ATXN2L_ENST00000325215.6_Missense_Mutation_p.S406F|ATXN2L_ENST00000570200.1_Missense_Mutation_p.S406F	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	406						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACAGGCCCTTCCCGCATGTCC	0.498000													10	9					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207640050	207640050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:207640050C>T	ENST00000367057.3	+	2	427	c.238C>T	c.(238-240)Cct>Tct	p.P80S	CR2_ENST00000458541.2_Missense_Mutation_p.P80S|CR2_ENST00000367058.3_Missense_Mutation_p.P80S|CR2_ENST00000367059.3_Missense_Mutation_p.P80S	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	80	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TAAACCTGCTCCTAAATGTGA	0.403000													35	50					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57707357	57707357	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:57707357C>T	ENST00000333493.4	+	2	344	c.183C>T	c.(181-183)tcC>tcT	p.S61S	GPR97_ENST00000327655.6_5'UTR|GPR97_ENST00000450388.3_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	61					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCAGCGACTCCTGCAATGTGG	0.557000													28	62					0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207619954	207619954	+	Missense_Mutation	SNP	C	C	T	rs138333507		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:207619954C>T	ENST00000374412.3	-	5	964	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.R230Q|MDH1B_ENST00000449792.1_Missense_Mutation_p.R132Q	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	230					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CACCCTGCTTCGGAGGCAGTC	0.552000													35	28					0	0	1	0	0
C1GALT1	56913	broad.mit.edu	37	7	7278170	7278170	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:7278170G>T	ENST00000436587.2	+	3	728	c.505G>T	c.(505-507)Gat>Tat	p.D169Y	C1GALT1_ENST00000402468.3_Missense_Mutation_p.D169Y|C1GALT1_ENST00000223122.2_Missense_Mutation_p.D169Y	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	169					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TTTGAAAGCAGATGATGACAC	0.353000													8	35					5.4927e-09	5.52647e-09	1	1	0
HYDIN	54768	broad.mit.edu	37	16	70977779	70977779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:70977779G>A	ENST00000393567.2	-	42	6755	c.6605C>T	c.(6604-6606)aCc>aTc	p.T2202I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2202										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CATCAGCCCGGTCTCGCCTCC	0.617000													18	15					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184021162	184021162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:184021162C>T	ENST00000310118.4	+	9	1682	c.1124C>T	c.(1123-1125)tCt>tTt	p.S375F	PSMD2_ENST00000439383.1_Missense_Mutation_p.S245F|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.S216F	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	375					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTGGCCTCCTCTTTTGTGAAT	0.488000													55	53					0	0	1	0	0
GMFG	9535	broad.mit.edu	37	19	39819629	39819629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:39819629C>T	ENST00000598034.1	-	6	397	c.368G>A	c.(367-369)gGg>gAg	p.G123E	GMFG_ENST00000600322.1_Intron|GMFG_ENST00000594700.1_Intron|GMFG_ENST00000595636.1_Intron|GMFG_ENST00000253054.8_Intron|GMFG_ENST00000602185.1_Intron|GMFG_ENST00000597595.1_Intron|GMFG_ENST00000601387.1_Intron			O60234	GMFG_HUMAN	glia maturation factor, gamma	123	ADF-H.				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)			GAGCCCCATCCCAGTCTGAAC	0.522000													20	44					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196953100	196953100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:196953100C>T	ENST00000367414.5	+	3	391	c.335C>T	c.(334-336)tCc>tTc	p.S112F	CFHR5_ENST00000256785.4_Missense_Mutation_p.S88F	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	88	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GGAATGTGTTCCTTTCCTTTT	0.308000													25	22					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2122932	2122932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:2122932C>T	ENST00000219476.3	+	21	2933	c.2303C>T	c.(2302-2304)cCa>cTa	p.P768L	TSC2_ENST00000568454.1_Missense_Mutation_p.P779L|TSC2_ENST00000382538.6_Missense_Mutation_p.P719L|TSC2_ENST00000439673.2_Missense_Mutation_p.P731L|TSC2_ENST00000353929.4_Missense_Mutation_p.P768L|TSC2_ENST00000350773.4_Missense_Mutation_p.P768L|TSC2_ENST00000401874.2_Missense_Mutation_p.P768L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	768					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCCGTGGTTCCAGTGCTGACA	0.557000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				35	61					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26181399	26181399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:26181399G>A	ENST00000335473.7	+	11	2567	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	MYO18B_ENST00000407587.2_Missense_Mutation_p.E773K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E773K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	773	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						TTCCAGGACGGAGCTGAACCT	0.612000													21	2					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212537960	212537960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:212537960C>T	ENST00000342788.4	-	14	1955	c.1645G>A	c.(1645-1647)Ggc>Agc	p.G549S	ERBB4_ENST00000436443.1_Missense_Mutation_p.G549S|ERBB4_ENST00000402597.1_Missense_Mutation_p.G549S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	549	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGATGGAGCCATTCTCAAAC	0.473000										TSP Lung(8;0.080)			32	57					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16456057	16456057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:16456057G>A	ENST00000395824.1	-	6	2016	c.1399C>T	c.(1399-1401)Ctt>Ttt	p.L467F	ZNF287_ENST00000395825.3_Missense_Mutation_p.L467F			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	460					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TGGATGGTAAGGTGTGCACGC	0.423000													33	40					0	0	1	0	0
MCMBP	79892	broad.mit.edu	37	10	121612602	121612602	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:121612602G>A	ENST00000360003.3	-	6	703	c.534C>T	c.(532-534)ccC>ccT	p.P178P	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Silent_p.P178P	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	178					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	p.P178P(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TCTGCTTATTGGGCTGTAGGT	0.458000													75	119					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56755209	56755209	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:56755209G>C	ENST00000267460.4	+	4	650	c.364G>C	c.(364-366)Ggc>Cgc	p.G122R		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	122					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CACGATTTCTGGCAGCCAGAA	0.498000													5	16					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230105	21230105	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:21230105C>T	ENST00000233242.1	-	26	9762	c.9635G>A	c.(9634-9636)aGa>aAa	p.R3212K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3212	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCATTGTTTCTGTTTTTTTC	0.363000													165	312					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607007	84607007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:84607007C>T	ENST00000344803.2	+	4	1669	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		ACATCTATATCCCATGAATCC	0.502000													42	35					0	0	1	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26046004	26046004	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:26046004C>T	ENST00000540144.1	+	1	366	c.366C>T	c.(364-366)ccC>ccT	p.P122P		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	122				P -> L (in Ref. 13; AAH66884).	blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CCATCATGCCCAAAGATATCC	0.537000													22	72					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193120603	193120603	+	Silent	SNP	G	G	A	rs117452828	by1000genomes	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:193120603G>A	ENST00000342695.4	-	30	3751	c.3429C>T	c.(3427-3429)ttC>ttT	p.F1143F	ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000400270.2_Silent_p.F159F|ATP13A4_ENST00000392443.3_Silent_p.F1124F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1143					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)		ACTGATAGCCGAAACATCTTT	0.443000													12	38					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127915925	127915925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:127915925G>A	ENST00000451402.1	-	7	887	c.667C>T	c.(667-669)Cct>Tct	p.P223S	PPP6C_ENST00000415905.1_Missense_Mutation_p.P164S|PPP6C_ENST00000373546.3_Missense_Mutation_p.P39S|PPP6C_ENST00000373547.4_Missense_Mutation_p.P186S	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	186					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						CCTTTATGAGGAATTTCCTGA	0.433000													26	6					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149240891	149240891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:149240891C>T	ENST00000407073.1	+	10	3728	c.2731C>T	c.(2731-2733)Cca>Tca	p.P911S	MBD5_ENST00000404807.1_Missense_Mutation_p.P911S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	911						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAACCATCTTCCACACCCCTT	0.478000													127	104					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68615584	68615584	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:68615584C>T	ENST00000234313.7	+	6	902	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	241					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AAGAAGAATTCAGAGGGGTCA	0.433000													36	88					0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15215752	15215752	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:15215752G>T	ENST00000395930.1	-	7	1111	c.925C>A	c.(925-927)Ctc>Atc	p.L309I	TEKT3_ENST00000338696.2_Missense_Mutation_p.L309I	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	309					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TGGGAGCGGAGAATATTGTCA	0.463000													21	34					2.39556e-15	2.43021e-15	1	1	0
SPO11	23626	broad.mit.edu	37	20	55918423	55918423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:55918423G>A	ENST00000371263.3	+	13	1207	c.1098G>A	c.(1096-1098)atG>atA	p.M366I	SPO11_ENST00000371260.4_Missense_Mutation_p.M324I|SPO11_ENST00000345868.4_Missense_Mutation_p.M328I	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	366					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			ACTCTAAAATGAAGGCAGAAA	0.308000								Editing and processing nucleases					26	45					0	0	1	0	0
PAGE1	8712	broad.mit.edu	37	X	49455970	49455970	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:49455970C>T	ENST00000376150.3	-	4	306	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	58					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CAGCTTCAGGCTCCTGCCCTT	0.393000													12	5					0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239040160	239040160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:239040160G>A	ENST00000343063.3	+	9	3068	c.2805G>A	c.(2803-2805)tgG>tgA	p.W935*	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Nonsense_Mutation_p.W891*|ESPNL_ENST00000409506.1_Nonsense_Mutation_p.W567*	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	935										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GTCCCGCCTGGGATACGGAGC	0.726000													11	17					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673881	120673881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:120673881G>A	ENST00000273666.6	+	3	555	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	STXBP5L_ENST00000472879.1_Missense_Mutation_p.R95Q|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R95Q|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R95Q|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R95Q	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	95					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)		GGTGCTATACGAATGTATCCT	0.358000													28	21					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383432	12383432	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:12383432G>A	ENST00000356109.5	-	5	1900	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F	ZNF44_ENST00000355684.5_Silent_p.F546F	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GTCTTAGAAGGAAAGAGGGCC	0.418000													12	10					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228554256	228554256	+	Silent	SNP	G	G	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:228554256G>T	ENST00000570156.2	+	95	22277	c.22203G>T	c.(22201-22203)ctG>ctT	p.L7401L	OBSCN_ENST00000366707.4_Silent_p.L4078L|OBSCN_ENST00000422127.1_Silent_p.L6444L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6444					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)				AGGCAGAGCTGCTGGTGCTTG	0.637000													32	44					4.65686e-17	4.734e-17	1	1	0
SAMD4B	55095	broad.mit.edu	37	19	39870640	39870640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:39870640C>T	ENST00000314471.6	+	12	2600	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	SAMD4B_ENST00000598913.1_Missense_Mutation_p.S522F|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	522							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	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;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGGCTGCTATCCTGGAAACAG	0.572000													20	39					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101383	168101383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:168101383G>A	ENST00000409195.1	+	9	3570	c.3481G>A	c.(3481-3483)Gat>Aat	p.D1161N	XIRP2_ENST00000409273.1_Missense_Mutation_p.D939N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1161N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	986					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						CCAAGGTGGGGATGTTCGTAC	0.398000													13	43					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41000800	41000800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:41000800G>A	ENST00000399564.4	-	38	4780	c.4330C>T	c.(4330-4332)Ccc>Tcc	p.P1444S	MROH2B_ENST00000506092.2_Missense_Mutation_p.P999S	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTGGGGTTGGGATCCCAAAGG	0.483000													7	12					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141460946	141460946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:141460946G>A	ENST00000389328.4	-	2	835	c.821C>T	c.(820-822)cCc>cTc	p.P274L	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P176L|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.P176L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	176					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ACAGAGAAGGGGGATCTTATC	0.532000													6	24					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160999732	160999732	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:160999732G>A	ENST00000447678.1	-	28	4414	c.4294C>T	c.(4294-4296)Ctg>Ttg	p.L1432L	LPA_ENST00000316300.5_Silent_p.L1432L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3940	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTCCTGGTCAGGCCACTGCAA	0.483000													32	6					0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71166015	71166015	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:71166015A>G	ENST00000357585.2	+	2	926	c.557A>G	c.(556-558)aAc>aGc	p.N186S	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.N186S	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	186					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CTCCGGAGCAACCAGTGGGGG	0.557000													30	36					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462682	5462682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:5462682C>T	ENST00000345221.3	-	4	1888	c.1334G>A	c.(1333-1335)gGg>gAg	p.G445E	NLRP1_ENST00000354411.3_Missense_Mutation_p.G445E|NLRP1_ENST00000572272.1_Missense_Mutation_p.G445E|NLRP1_ENST00000262467.5_Missense_Mutation_p.G445E|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.G445E|NLRP1_ENST00000577119.1_Missense_Mutation_p.G445E	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	445	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TATAGTTTTCCCCAGCAAACT	0.582000													9	14					0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139740342	139740342	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:139740342T>C	ENST00000230993.6	+	2	283	c.248T>C	c.(247-249)cTc>cCc	p.L83P	SLC4A9_ENST00000507527.1_Missense_Mutation_p.L83P|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000506757.2_Intron|SLC4A9_ENST00000432095.2_Intron	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	83						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCTCTGCTCCTGGACATG	0.582000													7	12					0	0	1	0	0
DEFB118	117285	broad.mit.edu	37	20	29960810	29960810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:29960810C>T	ENST00000253381.2	+	2	242	c.209C>T	c.(208-210)cCc>cTc	p.P70L		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	70					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCGACATCTCCCACACCCTTG	0.423000													44	35					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71494436	71494436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:71494436G>A	ENST00000296755.7	+	5	5552	c.5254G>A	c.(5254-5256)Gat>Aat	p.D1752N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1752						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TACTCTATCCGATGTTGCTCC	0.483000													59	62					0	0	1	0	0
MFSD5	84975	broad.mit.edu	37	12	53646604	53646604	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:53646604C>T	ENST00000534842.1	+	2	453	c.306C>T	c.(304-306)gtC>gtT	p.V102V	MFSD5_ENST00000329548.4_5'UTR	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	0					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CTTCCCAGGTCGTCCGGGGGC	0.627000													19	32					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114111049	114111049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:114111049C>T	ENST00000297405.5	-	5	1097	c.853G>A	c.(853-855)Gat>Aat	p.D285N	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.D285N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D245N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D285N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	285	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTTGAAAATCAGTAAATATG	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	30					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74506974	74506974	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:74506974C>T	ENST00000354431.4	-	7	1832	c.1641G>A	c.(1639-1641)gaG>gaA	p.E547E	LRRIQ3_ENST00000395089.1_Silent_p.E547E	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	547										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TCAGGCTTTTCTCTTTTAGGA	0.308000													42	8					0	0	1	0	0
MBTD1	54799	broad.mit.edu	37	17	49272580	49272580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:49272580G>A	ENST00000586178.1	-	13	1710	c.1367C>T	c.(1366-1368)cCc>cTc	p.P456L	MBTD1_ENST00000415868.1_Missense_Mutation_p.P456L|MBTD1_ENST00000376381.2_Intron	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	456					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			AGTACCTCTGGGTGGAGTAAG	0.393000													10	8					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409674	159409674	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:159409674C>T	ENST00000423932.3	+	1	163	c.126C>T	c.(124-126)ttC>ttT	p.F42F	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	42					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TTGGCGTGTTCCTTGCACTAT	0.423000													94	103					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163329	32163329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:32163329G>A	ENST00000375023.3	-	30	6035	c.5897C>T	c.(5896-5898)cCg>cTg	p.P1966L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1966					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						AGGCGGGATCGGAATGTTGGA	0.622000													320	782					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70178911	70178911	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:70178911G>A	ENST00000399180.2	-	19	3104	c.3105C>T	c.(3103-3105)atC>atT	p.I1035I	DNA2_ENST00000399179.2_Silent_p.I711I|DNA2_ENST00000358410.3_Silent_p.I949I			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	949					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AATCATTGATGATCTTTAATT	0.358000													12	21					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20009888	20009888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:20009888G>A	ENST00000294543.6	-	16	1791	c.1550C>T	c.(1549-1551)gCc>gTc	p.A517V	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.A477V|TMCO4_ENST00000375127.1_Missense_Mutation_p.A517V	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	517						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GATGCCCACGGCCTTCAGGAT	0.677000													19	2					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697867	17697867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:17697867C>T	ENST00000399080.2	-	1	1839	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	606										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAAATGCATTCCTCTTCTAAT	0.269000													7	7					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135422	156135422	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:156135422A>T	ENST00000329476.3	+	2	820	c.331A>T	c.(331-333)Acc>Tcc	p.T111S	NPY2R_ENST00000506608.1_Missense_Mutation_p.T111S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	111					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TCTTACCTATACCTTAATGGG	0.488000													22	29					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53585397	53585397	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:53585397A>C	ENST00000267082.5	-	16	2571	c.2340T>G	c.(2338-2340)agT>agG	p.S780R	ITGB7_ENST00000422257.3_Missense_Mutation_p.S780R|ITGB7_ENST00000338737.4_Missense_Mutation_p.S632R|ITGB7_ENST00000550743.2_Missense_Mutation_p.S632R	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	780					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCGTGATGGCACTTTTGTAGA	0.502000													30	40					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936068	30936068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:30936068G>A	ENST00000355537.3	+	2	1746	c.1599G>A	c.(1597-1599)atG>atA	p.M533I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.M533I(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCATGGCCATGGAACATGGCT	0.602000													78	55					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100232738	100232738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:100232738G>A	ENST00000305046.8	-	7	971	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F	ADH1B_ENST00000394887.3_Missense_Mutation_p.L262F			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	302					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTTATTGAGAGGTTCTGGGAA	0.473000													46	55					0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165755239	165755239	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:165755239C>T	ENST00000303735.4	-	10	1193	c.861_splice	c.e10-1	p.G288_splice	SLC38A11_ENST00000409149.3_Splice_Site_p.G310_splice|SLC38A11_ENST00000409662.1_Splice_Site_p.G310_splice|SLC38A11_ENST00000409058.1_Splice_Site_p.G341_splice	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	310					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ACAGAGCACACCCTGCATGTT	0.383000													17	14					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102257436	102257436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:102257436G>A	ENST00000370345.3	-	16	2075	c.1978C>T	c.(1978-1980)Ccc>Tcc	p.P660S		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	660					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CAGAGCTCGGGAAATTTCTCT	0.512000													19	21					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229772119	229772119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:229772119C>T	ENST00000258243.2	+	4	1895	c.1759C>T	c.(1759-1761)Ctc>Ttc	p.L587F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	587						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCTGGCCCTTCTCCCGGACAC	0.617000													139	125					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430317	135430317	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:135430317G>A	ENST00000394143.1	+	6	4743	c.4452G>A	c.(4450-4452)agG>agA	p.R1484R	GPR112_ENST00000287534.4_Silent_p.R1421R|GPR112_ENST00000370652.1_Silent_p.R1484R|GPR112_ENST00000394141.1_Silent_p.R1279R|GPR112_ENST00000412101.1_Silent_p.R1279R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1484					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTCCGACAGGATCACTACAG	0.443000													61	16					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080652	42080652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:42080652G>A	ENST00000400454.1	-	2	566	c.89C>T	c.(88-90)tCt>tTt	p.S30F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	30					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)				CTCTTGCAGAGATGCATTGAC	0.527000													102	74					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086907	55086907	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:55086907C>T	ENST00000251377.3	+	6	973	c.840C>T	c.(838-840)ttC>ttT	p.F280F	LILRA2_ENST00000391738.3_Silent_p.F280F|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.F268F|LILRA2_ENST00000251376.3_Silent_p.F280F					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AGGCCAACTTCACCCTGGGCC	0.627000													57	39					0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107501287	107501287	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:107501287C>T	ENST00000265840.7	+	3	427	c.163_splice	c.e3+1	p.I54_splice	ELMOD1_ENST00000443271.2_Splice_Site_p.I54_splice|ELMOD1_ENST00000531234.1_Splice_Site_p.I48_splice	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	54					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CCATGAAAATCGGTAAGCCTG	0.408000													7	0					0	0	1	0	0
CCR9	10803	broad.mit.edu	37	3	45943258	45943258	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:45943258G>A	ENST00000357632.2	+	3	1158	c.978G>A	c.(976-978)cgG>cgA	p.R326R	CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Silent_p.R314R|CCR9_ENST00000355983.2_Silent_p.R314R|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	326					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GATTCCGCCGGGATCTCGTGA	0.512000													27	36					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73447448	73447448	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:73447448C>T	ENST00000224721.6	+	18	2051	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	CDH23_ENST00000299366.7_Silent_p.F722F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	677	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGCCTACTTCGTCTCCGTGG	0.627000													9	27					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15871654	15871654	+	RNA	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:15871654C>T	ENST00000595525.1	+	0	470				CYP4F24P_ENST00000587443.2_RNA																							GAATAAAAGCCAGAGGTGACC	0.572000													25	21					0	0	1	0	0
C8orf46	254778	broad.mit.edu	37	8	67425821	67425821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:67425821C>T	ENST00000305454.3	+	5	830	c.389C>T	c.(388-390)tCa>tTa	p.S130L	C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000480005.1_Missense_Mutation_p.S130L|C8orf46_ENST00000522977.1_Silent_p.L109L|C8orf46_ENST00000521495.1_Intron	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	130										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCCTCTGCCTCATTGGAGGCG	0.597000													29	55					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940570	144940570	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:144940570C>T	ENST00000525985.1	-	2	6923	c.6852G>A	c.(6850-6852)gaG>gaA	p.E2284E				P58107	EPIPL_HUMAN	epiplakin 1	2284						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)			CCACGGCCTCCTCCACCGACA	0.746000													8	122					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45309898	45309898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:45309898G>A	ENST00000313237.5	-	5	785	c.635C>T	c.(634-636)cCc>cTc	p.P212L	PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	212							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		aggggtgaggggaagagagga	0.642000													53	2					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17288908	17288908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:17288908G>A	ENST00000331428.5	-	2	158	c.56C>T	c.(55-57)tCg>tTg	p.S19L		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	19						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTCTTCTTTCGAAGATGAAAC	0.428000													92	6					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107691493	107691493	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:107691493G>A	ENST00000445937.1	+	4	537	c.276G>A	c.(274-276)caG>caA	p.Q92Q	OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000497705.1_Silent_p.Q25Q|OXR1_ENST00000442977.2_Silent_p.Q93Q|OXR1_ENST00000312046.6_Silent_p.Q85Q|OXR1_ENST00000531443.1_Silent_p.Q92Q|OXR1_ENST00000517566.2_Silent_p.Q92Q	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	93					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TGTCTTTTCAGAAACCTAAAG	0.328000													13	35					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196602738	196602738	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:196602738C>T	ENST00000312428.6	-	65	12082	c.11982G>A	c.(11980-11982)acG>acA	p.T3994T	DNAH7_ENST00000409063.1_Silent_p.T477T|DNAH7_ENST00000484183.1_5'UTR	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3994					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						TCACAAAATTCGTGGAATGGC	0.453000													25	32					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65983617	65983617	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:65983617C>T	ENST00000320580.4	+	5	721	c.688C>T	c.(688-690)Ctg>Ttg	p.L230L		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	230					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGAAGGCGCACTGGTGCTTGG	0.532000													32	6					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540744	28540744	+	Silent	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:28540744A>G	ENST00000452236.2	-	4	3539	c.2922T>C	c.(2920-2922)gcT>gcC	p.A974A		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	974					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						ctgtcattgaagctgcaccat	0.368000													29	103					0	0	1	0	0
MEX3D	399664	broad.mit.edu	37	19	1556354	1556354	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:1556354G>A	ENST00000402693.4	-	2	1163	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	MEX3D_ENST00000388824.6_Silent_p.A388A	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	388					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGAGGCCGGCCGTGGCCG	0.801000													12	3					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110765	72110765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:72110765G>A	ENST00000540303.2	+	5	864	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	HPR_ENST00000356967.5_Missense_Mutation_p.E278K|HPR_ENST00000228226.8_Missense_Mutation_p.E315K|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	278	Peptidase S1.				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)				CATACTGAACGAACACACCTT	0.552000													45	51					0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202545672	202545672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:202545672C>T	ENST00000409474.3	-	10	1025	c.818G>A	c.(817-819)gGg>gAg	p.G273E	MPP4_ENST00000447335.2_Missense_Mutation_p.G273E|MPP4_ENST00000315506.7_Missense_Mutation_p.G260E|MPP4_ENST00000409143.1_Missense_Mutation_p.G246E|MPP4_ENST00000396886.3_Missense_Mutation_p.G229E|MPP4_ENST00000359962.5_Missense_Mutation_p.G273E|MPP4_ENST00000428900.2_Missense_Mutation_p.G273E	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	273	SH3.					cytoplasm	protein binding			kidney(1)|lung(11)	12						GAGGATGTCCCCCTTCTGGAA	0.587000											OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	15					0	0	1	0	0
BEX5	340542	broad.mit.edu	37	X	101409140	101409140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:101409140C>T	ENST00000543160.1	-	3	399	c.98G>A	c.(97-99)gGa>gAa	p.G33E	BEX5_ENST00000333643.3_Missense_Mutation_p.G33E	NM_001159560.1	NP_001153032.1	Q5H9J7	BEX5_HUMAN	brain expressed, X-linked 5	33						cytoplasm				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TTTAACATTTCCTCCAGGCTC	0.498000													36	12					0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11606796	11606796	+	Missense_Mutation	SNP	G	G	A	rs140986196	by1000genomes	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:11606796G>A	ENST00000585656.1	-	3	439	c.440C>T	c.(439-441)cCc>cTc	p.P147L	ZNF653_ENST00000293771.5_Silent_p.P176P																							AGTCGCTGAGGGGCTTCAGGG	0.627000													23	18					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080495	29080495	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:29080495C>T	ENST00000377169.1	+	1	828	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AAGGCAAGTTCATTGCCCTCT	0.443000													52	104					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177930760	177930760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:177930760G>A	ENST00000308284.6	-	6	841	c.752C>T	c.(751-753)cCc>cTc	p.P251L	RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.P251L|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.P251L	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	251					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGAAGCTGGGGGATCATCCCG	0.542000													30	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179610423	179610423	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:179610423G>A	ENST00000360870.5	-	46	16926	c.16704C>T	c.(16702-16704)ttC>ttT	p.F5568F	TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9040	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGGTTATGGAACCCTGTGC	0.438000													35	59					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8645836	8645836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:8645836G>A	ENST00000270328.4	-	25	3519	c.3253C>T	c.(3253-3255)Cag>Tag	p.Q1085*	ADAMTS10_ENST00000597188.1_Nonsense_Mutation_p.Q1085*|ADAMTS10_ENST00000595838.1_Nonsense_Mutation_p.Q572*			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	1085	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTGCAGAACTGAAATTTGAGC	0.627000											OREG0025220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	22					0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43913174	43913174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:43913174G>A	ENST00000291536.3	-	2	237	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	24					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						GCCTCATTCCGACCCCCCTCA	0.498000													66	146					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958734	111958734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:111958734C>T	ENST00000305815.5	-	12	1651	c.1399G>A	c.(1399-1401)Gat>Aat	p.D467N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.D419N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	467					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATGTTCCAATCAGCATTAGCA	0.333000													9	16					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62762219	62762219	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:62762219G>A	ENST00000336232.2	-	8	1146	c.1011C>T	c.(1009-1011)acC>acT	p.T337T	SLC22A8_ENST00000545207.1_Silent_p.T246T|SLC22A8_ENST00000430500.2_Silent_p.T337T|SLC22A8_ENST00000535878.1_Silent_p.T214T|SLC22A8_ENST00000311438.8_Silent_p.T337T	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	337					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AGGCAAAACCGGTAGCAAACC	0.517000													19	4					0	0	1	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797959	31797959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:31797959G>A	ENST00000390690.2	-	1	327	c.272C>T	c.(271-273)tCt>tTt	p.S91F		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	91	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AGTCAGGCAAGAATTGCAGAG	0.572000													37	25					0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958655	88958655	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:88958655C>T	ENST00000268679.4	-	4	1014	c.618G>A	c.(616-618)ctG>ctA	p.L206L	CBFA2T3_ENST00000327483.5_Silent_p.L120L|CBFA2T3_ENST00000360302.2_Silent_p.L120L|CBFA2T3_ENST00000448839.1_Silent_p.L130L|CBFA2T3_ENST00000436887.2_Silent_p.L181L	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	206	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		AACTCACCACCAGGCCCAGCA	0.612000			T	RUNX1	AML								27	23					0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36714220	36714220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:36714220C>T	ENST00000244751.2	-	16	1777	c.1153G>A	c.(1153-1155)Ggg>Agg	p.G385R	CPNE5_ENST00000393189.2_Missense_Mutation_p.G93R|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	385	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGCTTGGCCCCGAAGCCCAGG	0.642000													112	64					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106091552	106091552	+	RNA	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:106091552G>A	ENST00000390543.2	-	0	341																											GTCCCCCCAGGAACTCAGGTG	0.627000													17	80					0	0	1	0	0
CETN3	1070	broad.mit.edu	37	5	89695273	89695273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:89695273C>T	ENST00000283122.3	-	4	486	c.362G>A	c.(361-363)aGg>aAg	p.R121K	CETN3_ENST00000522083.1_Missense_Mutation_p.R121K|CETN3_ENST00000522565.1_Missense_Mutation_p.R121K|CETN3_ENST00000522864.1_Intron	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	121	EF-hand 3.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		TCGCAAATTCCTCAAGCTTAT	0.373000													27	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179393040	179393040	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:179393040G>T	ENST00000589042.1	-	361	107562	c.107338C>A	c.(107338-107340)Cgt>Agt	p.R35780S	TTN_ENST00000460472.2_Missense_Mutation_p.R26715S|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26840S|TTN_ENST00000591111.1_Missense_Mutation_p.R34139S|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R33212S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26907S|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34139							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)			CACTGGCCACGGAAATTTTTG	0.428000													4	70					1	1	1	1	0
ATF1	466	broad.mit.edu	37	12	51173993	51173993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:51173993G>A	ENST00000262053.3	+	2	87	c.65G>A	c.(64-66)gGa>gAa	p.G22E	ATF1_ENST00000539132.1_5'UTR	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	22					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway			p.G22R(1)	EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						GCAGTTCAGGGAGCTCACATT	0.418000			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """								51	58					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122630878	122630878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:122630878C>T	ENST00000195173.4	-	20	3232	c.2929G>A	c.(2929-2931)Gac>Aac	p.D977N	SEMA5B_ENST00000451055.2_Missense_Mutation_p.D1033N|SEMA5B_ENST00000357599.3_Missense_Mutation_p.D979N			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	979	TSP type-1 5.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCTCCGTCGTCAGTGCACTTA	0.652000													11	26					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35926330	35926330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:35926330G>A	ENST00000540320.1	+	38	6583	c.6049G>A	c.(6049-6051)Gaa>Aaa	p.E2017K	NBEA_ENST00000379939.2_Missense_Mutation_p.E2014K|NBEA_ENST00000400445.3_Missense_Mutation_p.E2017K|NBEA_ENST00000310336.4_Missense_Mutation_p.E2017K			Q8NFP9	NBEA_HUMAN	neurobeachin	2017						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)		TAGAAGAGAGGAAGAAAAGAT	0.333000													11	32					0	0	1	0	0
LRRC37A5P	652972	broad.mit.edu	37	9	114371503	114371503	+	RNA	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:114371503G>A	ENST00000374304.1	-	0	296																											CGTTGTTGGGGATGAGGGACC	0.502000													23	52					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067595	190067595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:190067595C>T	ENST00000367462.3	-	8	2085	c.1854G>A	c.(1852-1854)tgG>tgA	p.W618*	FAM5C_ENST00000534846.1_Nonsense_Mutation_p.W516*|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		618						extracellular region		p.W618C(1)		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)					AAAATGTCTTCCATTTGTTCC	0.433000													148	251					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38098425	38098425	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:38098425C>T	ENST00000290399.6	+	6	1162	c.549C>T	c.(547-549)atC>atT	p.I183I	SIM2_ENST00000430056.3_Silent_p.I183I	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	183				IH -> RI (in Ref. 7; BAA07909).	cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CCCAGGTCATCCACTGCAGTG	0.577000													51	67					0	0	1	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21172237	21172237	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:21172237G>A	ENST00000421593.2	+	2	141	c.141G>A	c.(139-141)ccG>ccA	p.P47P	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)									p.P47P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TACACAGACCGAAGTTAATTG	0.328000													7	17					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072405	17072405	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:17072405T>G	ENST00000359963.3	-	1	1295	c.1036A>C	c.(1036-1038)Aag>Cag	p.K346Q		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	346					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)				CTCTGGCACTTGCCTGGCCTC	0.557000													128	14					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141135827	141135827	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:141135827G>A	ENST00000389484.3	-	68	11531	c.10560C>T	c.(10558-10560)ttC>ttT	p.F3520F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3520	LDL-receptor class A 26.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGCACAGAGGAAATCTTTCA	0.378000										TSP Lung(27;0.18)			35	34					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196438156	196438156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:196438156C>T	ENST00000367433.5	-	6	528	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.E143K|KCNT2_ENST00000294725.8_Missense_Mutation_p.E143K			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	143						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTAATTATTTCCAAGATGAAG	0.313000													9	14					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5058443	5058443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:5058443G>A	ENST00000251170.7	+	14	1774	c.1594G>A	c.(1594-1596)Gga>Aga	p.G532R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	532	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GATCCTGGAAGGAGAGTCGGT	0.647000													9	18					0	0	1	0	0
DOK7	285489	broad.mit.edu	37	4	3475242	3475242	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:3475242C>T	ENST00000340083.5	+	3	275	c.210C>T	c.(208-210)ccC>ccT	p.P70P	DOK7_ENST00000507039.1_Silent_p.P70P|DOK7_ENST00000389653.2_Silent_p.P70P	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	70	PH.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCGGCCTGCCCTACGAGGGCT	0.642000													9	18					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1817665	1817665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:1817665G>A	ENST00000250894.4	+	27	3492	c.3335G>A	c.(3334-3336)aGg>aAg	p.R1112K	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R1106K	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1112					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCCACCCTGAGGCTCTACCAT	0.637000													23	27					0	0	1	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099485	142099485	+	RNA	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:142099485G>A	ENST00000390359.3	-	0	355																											ATACACGGCGGAGTCCTCCTG	0.557000													5	46					0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52781454	52781454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:52781454C>T	ENST00000245457.5	+	1	342	c.188C>T	c.(187-189)tCc>tTc	p.S63F	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	63						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CGCAGGAGCTCCCTCTCCTTG	0.687000													17	29					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41427706	41427706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:41427706C>T	ENST00000400454.1	-	29	5458	c.4981G>A	c.(4981-4983)Gac>Aac	p.D1661N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1661					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	p.D1661N(1)		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)				CTGGGTATGTCGATGTGCATT	0.468000													78	143					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952603	54952603	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:54952603G>A	ENST00000273286.5	-	3	1083	c.921C>T	c.(919-921)gcC>gcT	p.A307A	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Silent_p.A231A|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	307						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGCCATAGATGGCAGCTGCCA	0.542000													79	49					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39917600	39917600	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:39917600C>T	ENST00000337304.2	+	1	1032	c.150C>T	c.(148-150)tcC>tcT	p.S50S	ATF4_ENST00000396680.1_Silent_p.S50S|ATF4_ENST00000404241.2_Silent_p.S50S	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	50					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					ATGGGTTCTCCAGCGACAAGG	0.577000													63	6					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133312044	133312044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:133312044G>A	ENST00000539605.1	-	8	8146	c.1462C>T	c.(1462-1464)Ctt>Ttt	p.L488F	ANKLE2_ENST00000357997.5_Missense_Mutation_p.L550F|ANKLE2_ENST00000337516.5_Missense_Mutation_p.L550F			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	550						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ACGTGGTGAAGGAAGCCTGCT	0.527000													32	47					0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137843430	137843430	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:137843430C>T	ENST00000236709.3	-	3	900	c.699G>A	c.(697-699)agG>agA	p.R233R		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	233					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TACACCATACCCTCAACATCC	0.463000													214	402					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	122004453	122004453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:122004453C>T	ENST00000265922.3	-	4	912	c.451G>A	c.(451-453)Gac>Aac	p.D151N	DBC1_ENST00000373964.2_Missense_Mutation_p.D151N	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		151	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GACTTCCTGTCGAGGCGACTT	0.488000													34	3					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153665653	153665653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:153665653C>T	ENST00000368680.3	+	21	3575	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	1035					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCTGGAGCTTCGAGGGGATGT	0.562000													38	68					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62396711	62396711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:62396711G>A	ENST00000346178.4	-	17	1972	c.1957C>T	c.(1957-1959)Cct>Tct	p.P653S	GANAB_ENST00000540933.1_Missense_Mutation_p.P534S|GANAB_ENST00000534779.1_Missense_Mutation_p.P539S|GANAB_ENST00000356638.3_Missense_Mutation_p.P631S	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	631					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						AGACACATAGGAATAGAGATC	0.532000													42	5					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726770	32726770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:32726770C>T	ENST00000435145.2	-	3	564	c.503G>A	c.(502-504)gGt>gAt	p.G168D	HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G168D|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.G168D			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	168					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						GGACACAACACCGGCTGTCTC	0.542000													18	85					0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130900819	130900819	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:130900819G>A	ENST00000409234.3	-	2	404	c.318C>T	c.(316-318)ttC>ttT	p.F106F	CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000310463.6_Intron|CCDC74B_ENST00000392984.3_5'UTR			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	250										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					ATCCCATCAGGAACTGAAGGG	0.557000													28	43					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511204	169511204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:169511204G>A	ENST00000367796.3	-	13	3340	c.3139C>T	c.(3139-3141)Cct>Tct	p.P1047S	F5_ENST00000367797.3_Missense_Mutation_p.P1042S			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1042	B.	Cleavage; by thrombin.			cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGAGATAAAGGAGCATGGTGT	0.398000													58	192					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372684	126372684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:126372684G>A	ENST00000394329.3	+	9	10526	c.10513G>A	c.(10513-10515)Gat>Aat	p.D3505N	FAT4_ENST00000335110.5_Missense_Mutation_p.D1803N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3505	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGATATAAATGATAACGGGCC	0.488000													43	68					0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54326282	54326282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:54326282C>T	ENST00000231009.2	+	3	303	c.233C>T	c.(232-234)cCc>cTc	p.P78L	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	78	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GGCCAGTCTCCCACTGTGGTT	0.438000													24	33					0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518434	84518434	+	RNA	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:84518434C>T	ENST00000331369.5	+	0	628																											CTGGTTTTTTCCAGTCAGCAG	0.473000													35	16					0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131832147	131832147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:131832147C>T	ENST00000358369.4	+	15	1704	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	493						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GGCTTCATCTCCCATTTCTAC	0.597000													86	13					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43332514	43332514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:43332514C>T	ENST00000380486.3	-	7	1121	c.880G>A	c.(880-882)Gat>Aat	p.D294N	C2CD2_ENST00000329623.7_Missense_Mutation_p.D139N	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	294	C2.					cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGAACAGGATCGTTCAGCTGC	0.438000													9	6					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31890731	31890731	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:31890731A>G	ENST00000253354.1	+	11	1152	c.991A>G	c.(991-993)Aag>Gag	p.K331E	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	331						extracellular space	lipid binding										GGCTGCAGATAAGCTGGGATC	0.577000													31	30					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61225608	61225608	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:61225608C>T	ENST00000382768.1	+	2	192	c.192C>T	c.(190-192)tcC>tcT	p.S64S	SERPINB12_ENST00000269491.1_Silent_p.S64S			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	64					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						ACGAATTTTCCCAGAATGAAA	0.428000													29	46					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343804	248343804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:248343804G>A	ENST00000359682.2	+	1	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			TGGGTCTCGGGAAATAGCCCA	0.418000													81	258					0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36466174	36466174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:36466174G>A	ENST00000229812.7	-	11	1327	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	348	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAGAGATGGGAACTTCTGGA	0.373000													73	119					0	0	1	0	0
DYRK2	8445	broad.mit.edu	37	12	68052204	68052204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:68052204C>T	ENST00000344096.3	+	3	1930	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L	DYRK2_ENST00000393555.3_Missense_Mutation_p.P433L	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	506	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TGTGATGATCCCCTTTTCCTT	0.612000													33	45					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47463663	47463663	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:47463663G>A	ENST00000285039.7	-	15	2156	c.1857C>T	c.(1855-1857)ccC>ccT	p.P619P		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	619	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTTTCATGGGGGGTCTGGCAG	0.572000													36	73					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133337	22133337	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:22133337T>C	ENST00000408935.1	+	1	41	c.41T>C	c.(40-42)tTc>tCc	p.F14S		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GAATTTGTCTTCTTGGGACTC	0.373000													37	44					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7016246	7016246	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:7016246G>A	ENST00000409757.4	+	12	1843	c.1719G>A	c.(1717-1719)aaG>aaA	p.K573K	TBC1D14_ENST00000451522.2_Silent_p.K293K|TBC1D14_ENST00000410031.1_Silent_p.K345K|TBC1D14_ENST00000448507.1_Silent_p.K573K|TBC1D14_ENST00000446947.2_Silent_p.K220K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	573	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CGCATTTCAAGAAGAACAACC	0.358000													3	14					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111263903	111263903	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:111263903A>T	ENST00000352690.4	+	2	312	c.72A>T	c.(70-72)gaA>gaT	p.E24D	CD96_ENST00000283285.5_Missense_Mutation_p.E24D|CD96_ENST00000438817.2_Missense_Mutation_p.E24D	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	24					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GAGTTTGGGAAAAAACAGTCA	0.398000									Opitz Trigonocephaly syndrome				28	70					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84718754	84718754	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:84718754A>T	ENST00000372142.2	+	7	818	c.544A>T	c.(544-546)Aaa>Taa	p.K182*	NRG3_ENST00000404547.1_Nonsense_Mutation_p.K403*|NRG3_ENST00000372141.2_Nonsense_Mutation_p.K403*|NRG3_ENST00000537893.1_Nonsense_Mutation_p.K53*|NRG3_ENST00000545131.1_Nonsense_Mutation_p.K53*|NRG3_ENST00000556918.1_Nonsense_Mutation_p.K233*|NRG3_ENST00000404576.2_Nonsense_Mutation_p.K207*	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	403	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACAAAATGGTAAAAGCTACAG	0.408000													13	16					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100821706	100821706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:100821706G>A	ENST00000358544.2	+	44	8231	c.8120G>A	c.(8119-8121)cGa>cAa	p.R2707Q	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R2682Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2707					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACAGGGGTCGAACTGCTTCT	0.438000													20	53					0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159682637	159682637	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:159682637G>A	ENST00000393977.3	-	6	1091	c.806C>T	c.(805-807)tCt>tTt	p.S269F	CCNJL_ENST00000257536.7_Missense_Mutation_p.S221F|CCNJL_ENST00000541762.1_Missense_Mutation_p.S220F|CCNJL_ENST00000519673.1_Missense_Mutation_p.S221F|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	269						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGTAGGGAGAAAGCTGCAG	0.522000													44	71					0	0	1	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737910	62737910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:62737910C>T	ENST00000369768.1	-	1	614	c.275G>A	c.(274-276)gGg>gAg	p.G92E		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	92			G -> R (in a colorectal cancer sample; somatic mutation).			plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CGTGAAGAGCCCGTCGGCGAC	0.627000													22	8					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77397781	77397781	+	Splice_Site	SNP	A	A	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:77397781A>T	ENST00000282849.5	-	6	1392	c.972_splice	c.e6-1	p.V325_splice		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	325	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TAGGCCAGAAACCTGTTGGAA	0.373000													7	28					0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51453182	51453182	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:51453182G>A	ENST00000336334.3	-	3	616	c.264C>T	c.(262-264)ccC>ccT	p.P88P	KLK5_ENST00000593428.1_Silent_p.P88P|KLK5_ENST00000391809.2_Silent_p.P88P	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	88	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		AGAGCTGGTTGGGCCTTAGCA	0.632000													11	27					0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129641854	129641854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:129641854C>T	ENST00000319119.4	+	2	261	c.176C>T	c.(175-177)cCa>cTa	p.P59L	ZBTB34_ENST00000373452.2_Missense_Mutation_p.P55L	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	55	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GCCAGCTCCCCATATTTCCGG	0.463000													105	10					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73336202	73336202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:73336202G>A	ENST00000377767.4	-	17	2301	c.2201C>T	c.(2200-2202)cCa>cTa	p.P734L	DIS3_ENST00000377780.4_Missense_Mutation_p.P704L|DIS3_ENST00000545453.1_Missense_Mutation_p.P572L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	734					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		GTTTAGATATGGAAAAGTAGG	0.398000										Multiple Myeloma(4;0.011)			30	64					0	0	1	0	0
FABP12	646486	broad.mit.edu	37	8	82443501	82443501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:82443501G>A	ENST00000360464.4	-	1	112	c.50C>T	c.(49-51)tCc>tTc	p.S17F	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	17							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						GTAGTCTTCGGAATTTTCACA	0.383000													12	8					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37522954	37522954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:37522954G>A	ENST00000432825.2	-	7	1846	c.1798C>T	c.(1798-1800)Cag>Tag	p.Q600*	FBXO10_ENST00000543968.1_5'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Nonsense_Mutation_p.Q125*	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	600						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCTCCCCACTGATTCTCACGG	0.517000													3	0					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43612116	43612116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:43612116G>A	ENST00000355710.3	+	12	2453	c.2221G>A	c.(2221-2223)Gca>Aca	p.A741T	RET_ENST00000340058.5_Missense_Mutation_p.A741T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	741	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGTGGTCAAGGCAACGGCCTT	0.532000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				68	93					0	0	1	0	0
SYNPR	132204	broad.mit.edu	37	3	63594956	63594956	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:63594956C>T	ENST00000478300.1	+	5	975	c.564C>T	c.(562-564)atC>atT	p.I188I	SYNPR_ENST00000460711.1_Silent_p.I179I|SYNPR_ENST00000465156.1_Intron|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000295894.5_Silent_p.I168I|SYNPR_ENST00000479198.1_Silent_p.I168I	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	168	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		GCATGGCTATCCACAGCCCTG	0.398000													6	8					0	0	1	0	0
LNP1	348801	broad.mit.edu	37	3	100148714	100148714	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:100148714C>T	ENST00000383693.3	+	2	1421	c.141C>T	c.(139-141)acC>acT	p.T47T	LNP1_ENST00000489752.1_Silent_p.T47T	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	47										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						ACAGGAAAACCTCCCTGCCCT	0.547000													37	95					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595373	179595373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:179595373C>T	ENST00000589042.1	-	61	18111	c.17887G>A	c.(17887-17889)Gaa>Aaa	p.E5963K	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5646K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E4719K|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5646	Ig-like 40.						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)			TTGTACTTTTCACTAGCTGAT	0.398000													54	55					0	0	1	0	0
HAND2	9464	broad.mit.edu	37	4	174450277	174450277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:174450277G>A	ENST00000359562.4	-	1	1103	c.164C>T	c.(163-165)cCc>cTc	p.P55L	HAND2-AS1_ENST00000512099.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000515310.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	55					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GTAGTCGGGGGGCGACATCTC	0.746000													8	14					0	0	1	0	0
FCF1	51077	broad.mit.edu	37	14	75200790	75200790	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:75200790C>T	ENST00000341162.4	+	7	519	c.465C>T	c.(463-465)taC>taT	p.Y155Y	FCF1_ENST00000534938.2_Silent_p.Y143Y|FCF1_ENST00000553615.1_Silent_p.Y140Y	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	155	PINc.				rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		ATAAGTGTTACATTGTGGCCA	0.443000													12	15					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54275668	54275668	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:54275668T>A	ENST00000354646.2	-	17	3551	c.3113A>T	c.(3112-3114)gAt>gTt	p.D1038V	WNK3_ENST00000375159.2_Missense_Mutation_p.D1038V|WNK3_ENST00000375169.3_Missense_Mutation_p.D1038V	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1038					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AGGCTTTTGATCAAATGCCAG	0.443000													21	5					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933093	44933093	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:44933093G>A	ENST00000291187.4	-	6	2167	c.1845C>T	c.(1843-1845)gtC>gtT	p.V615V	ZNF229_ENST00000588931.1_Silent_p.V621V|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCCAGTGTGGACCCTCTGAT	0.542000													39	67					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716704	39716704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:39716704G>A	ENST00000553728.1	+	4	1139	c.926G>A	c.(925-927)tGg>tAg	p.W309*	MIA2_ENST00000556784.1_Nonsense_Mutation_p.W308*|MIA2_ENST00000280082.3_Nonsense_Mutation_p.W309*																							TCCACTGGTTGGTTTGGTGGA	0.413000													21	32					0	0	1	0	0
SLPI	6590	broad.mit.edu	37	20	43882291	43882291	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:43882291A>C	ENST00000338380.2	-	2	189	c.169T>G	c.(169-171)Tgt>Ggt	p.C57G		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	57	Trypsin inhibitory domain.|WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TTCCCTGGACACTGCCAGTCA	0.502000													37	57					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39503881	39503881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:39503881C>T	ENST00000559001.1	+	8	1608	c.1507C>T	c.(1507-1509)Cct>Tct	p.P503S	POU6F2_ENST00000518318.2_Intron|POU6F2_ENST00000403058.1_Missense_Mutation_p.P558S			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	558	POU-specific.				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						CCTTTTGTATCCTGCCAGGTT	0.537000													13	81					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58000683	58000683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:58000683G>A	ENST00000548198.1	+	3	1541	c.37G>A	c.(37-39)Ggc>Agc	p.G13S	DTX3_ENST00000551632.1_Missense_Mutation_p.G16S|DTX3_ENST00000548804.1_Missense_Mutation_p.G13S|DTX3_ENST00000337737.3_Missense_Mutation_p.G13S			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	13					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					AGCCTGTGGAGGCACCTGCAA	0.612000													72	110					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52339228	52339228	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:52339228T>A	ENST00000356297.4	-	13	1716	c.1616A>T	c.(1615-1617)cAg>cTg	p.Q539L	PXDNL_ENST00000543296.1_Missense_Mutation_p.Q539L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	539	Ig-like C2-type 4.				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)				AATTATGGGCTGTGGTTCTCC	0.378000													4	11					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8584276	8584276	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:8584276C>T	ENST00000382487.4	+	2	1104	c.687C>T	c.(685-687)ctC>ctT	p.L229L	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	229					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						AGCGCTGCCTCATCCAGCAGA	0.632000													28	30					0	0	1	0	0
CDC37L1	55664	broad.mit.edu	37	9	4701869	4701869	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:4701869G>A	ENST00000381854.3	+	6	955	c.753G>A	c.(751-753)gaG>gaA	p.E251E	CDC37L1_ENST00000381858.1_Silent_p.E251E	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	251	Self-association and interaction with Hsp90.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		TCTAGGCAGAGGAAGAAGGTT	0.323000													21	6					0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39234686	39234686	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:39234686C>T	ENST00000328867.4	-	1	428	c.120G>A	c.(118-120)ctG>ctA	p.L40L	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	40					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCCCCGAATCCAGGCAGGCTG	0.647000													37	37					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95721226	95721226	+	RNA	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:95721226G>A	ENST00000480546.1	-	0	71					NR_002319.2																						AAAACCGACCGAAGACAACGG	0.597000													50	56					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14181703	14181703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:14181703C>T	ENST00000382080.1	-	3	960	c.245G>A	c.(244-246)gGa>gAa	p.G82E	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	69					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.G82E(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TCTCAGATTTCCCATACCATC	0.353000													33	22					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40767562	40767562	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:40767562C>T	ENST00000372748.3	-	31	1889		c.e31-1		COL9A2_ENST00000466267.1_Splice_Site	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCACGTTTTCCTGTAGACAAA	0.483000													14	1					0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65444470	65444470	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:65444470G>A	ENST00000304895.4	-	4	770	c.640C>T	c.(640-642)Ctg>Ttg	p.L214L	GUSB_ENST00000421103.1_Intron|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Silent_p.L214L	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	214					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GACCGCTGCAGTCCAGCGTAG	0.527000													5	43					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53062480	53062480	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:53062480G>A	ENST00000276480.7	-	16	2547	c.1864C>T	c.(1864-1866)Cga>Tga	p.R622*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	622						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCCAGGATTCGATTTTTTTTC	0.413000													29	63					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99670140	99670140	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:99670140C>T	ENST00000336292.6	+	5	1692	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Silent_p.F524F|SYNM_ENST00000560674.1_Silent_p.F239F	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	525	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGAAAATGTTCGATTCTAAAG	0.448000													10	6					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10310296	10310296	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:10310296C>T	ENST00000403437.2	-	18	2060	c.1965_splice	c.e18-1	p.E656_splice	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	656	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTAAATTTTCCTAGAAAACC	0.373000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	18					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26821463	26821463	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:26821463A>G	ENST00000444914.3	+	9	1808	c.1388A>G	c.(1387-1389)aAc>aGc	p.N463S	SLC13A2_ENST00000314669.5_Missense_Mutation_p.N414S|SLC13A2_ENST00000545060.1_Missense_Mutation_p.N371S|SLC13A2_ENST00000537681.1_Missense_Mutation_p.N343S	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	414						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	AAGACGGTGAACCAGAAGATG	0.582000											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	49					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147110	26147110	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:26147110G>A	ENST00000331351.5	+	2	1304	c.912G>A	c.(910-912)aaG>aaA	p.K304K	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	304					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CACTGTCAAAGAAACCCGAGA	0.547000													48	113					0	0	1	0	0
PPP5C	5536	broad.mit.edu	37	19	46857023	46857023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:46857023C>T	ENST00000012443.4	+	2	243	c.140C>T	c.(139-141)gCc>gTc	p.A47V	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	47					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TACGAGAACGCCATCAAGTTC	0.607000													11	32					0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5254004	5254004	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:5254004G>A	ENST00000292901.3	-	3	389	c.340C>T	c.(340-342)Cta>Tta	p.L114L				P02042	HBD_HUMAN	hemoglobin, delta	0					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTATCTGTAGAGCCTCAGGA	0.398000													10	1					0	0	1	0	0
CTAGE4	100128553	broad.mit.edu	37	7	143882730	143882730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:143882730G>A	ENST00000486333.1	+	1	2172	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	712	Pro-rich.					integral to membrane				endometrium(1)|ovary(2)	3						GGATACAAGGGGCCCGTTCAT	0.527000													25	96					0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48320620	48320620	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:48320620G>A	ENST00000376876.3	-	9	1475	c.633_splice	c.e9+1	p.S211_splice	SLC38A5_ENST00000376875.1_Splice_Site_p.S160_splice|SLC38A5_ENST00000317669.5_Splice_Site_p.S211_splice			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	211					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GTGACTCACCGAAACAAGGAA	0.537000													12	5					0	0	1	0	0
AUH	549	broad.mit.edu	37	9	94118217	94118217	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:94118217C>A	ENST00000375731.4	-	3	389	c.366G>T	c.(364-366)aaG>aaT	p.K122N	AUH_ENST00000422391.2_Missense_Mutation_p.K122N|AUH_ENST00000303617.5_Missense_Mutation_p.K122N|AUH_ENST00000478465.1_5'UTR	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	122					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TCCGTACTTTCTTATCAGATT	0.318000													25	3					1.80694e-10	1.82553e-10	1	1	0
HEPHL1	341208	broad.mit.edu	37	11	93822128	93822128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:93822128G>A	ENST00000315765.9	+	12	2296	c.2288G>A	c.(2287-2289)gGg>gAg	p.G763E		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	763	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GACGCAAGAGGGGAAAGGTAC	0.532000													34	7					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117053535	117053535	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:117053535G>A	ENST00000371876.1	-	3	2787	c.366C>T	c.(364-366)ttC>ttT	p.F122F	KLHL13_ENST00000540167.1_Silent_p.F157F|KLHL13_ENST00000371878.1_Silent_p.F122F|KLHL13_ENST00000262820.3_Silent_p.F173F|KLHL13_ENST00000541812.1_Silent_p.F157F|KLHL13_ENST00000469946.1_Silent_p.F122F|KLHL13_ENST00000371882.1_Silent_p.F122F|KLHL13_ENST00000539496.1_Silent_p.F176F|KLHL13_ENST00000545703.1_Silent_p.F131F			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	173	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GAATCTGTAGGAAACTGGCAG	0.383000													40	6					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52605077	52605077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:52605077C>T	ENST00000521776.2	+	2	2870	c.2137C>T	c.(2137-2139)Caa>Taa	p.Q713*		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	713					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GAGGGCTTTCCAAAAGCTGAC	0.498000													66	183					0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62671279	62671279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:62671279C>T	ENST00000337910.5	-	3	359	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E8K	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	8	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TTGGGTCTTTCGTAGTCCATG	0.498000													92	125					0	0	1	0	0
TSPAN17	26262	broad.mit.edu	37	5	176084570	176084570	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:176084570C>T	ENST00000310032.8	+	9	1099	c.870C>T	c.(868-870)tcC>tcT	p.S290S	TSPAN17_ENST00000508164.1_Silent_p.S287S|TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000503045.1_Silent_p.S267S|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000515708.1_3'UTR	NM_012171.2|NM_130465.4	NP_036303.1|NP_569732.2	Q96FV3	TSN17_HUMAN	tetraspanin 17	134						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACCATTTCCGAGGTCCTGT	0.547000													11	8					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61621682	61621682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:61621682G>A	ENST00000583023.1	+	12	2425	c.2414G>A	c.(2413-2415)aGg>aAg	p.R805K	KCNH6_ENST00000581784.1_Missense_Mutation_p.R716K|KCNH6_ENST00000314672.5_Missense_Mutation_p.R769K|KCNH6_ENST00000456941.2_Missense_Mutation_p.R716K	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	805					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ATGCCCCCAAGGCACAGCCCC	0.607000													12	27					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99448865	99448865	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:99448865C>T	ENST00000397899.2	-	5	817	c.486G>A	c.(484-486)agG>agA	p.R162R	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like																		CTGGGGGGCTCCTGGGCAGCC	0.617000													56	37					0	0	1	0	0
C1orf61	10485	broad.mit.edu	37	1	156376944	156376944	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:156376944G>A	ENST00000368243.1	-	6	467	c.351C>T	c.(349-351)tcC>tcT	p.S117S		NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	117						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					ggttagacatggagaaggact	0.473000													10	27					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631202	32631202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:32631202G>A	ENST00000242310.4	-	1	4465	c.4376C>T	c.(4375-4377)cCa>cTa	p.P1459L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1459	Bromo 1.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCCCGAGATGGGTAGAGGCA	0.443000													126	14					0	0	1	0	0
GPR68	8111	broad.mit.edu	37	14	91700825	91700825	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:91700825G>A	ENST00000531499.2	-	2	909	c.570C>T	c.(568-570)ttC>ttT	p.F190F	GPR68_ENST00000535815.1_Silent_p.F190F|GPR68_ENST00000238699.3_Silent_p.F200F			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	190					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AGCCCACCAGGAAGCGGTAGT	0.647000													13	14					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525795	176525795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:176525795G>A	ENST00000367662.3	+	2	1501	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E113K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	113					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						AGACCTGACTGAAAATCCAGC	0.562000													114	179					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922053	24922053	+	Missense_Mutation	SNP	G	G	A	rs34629208	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:24922053G>A	ENST00000329468.2	+	1	1513	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ATTGCTGTGGGATCGAGGTGA	0.577000													21	39					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220502522	220502522	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:220502522C>T	ENST00000358055.3	+	17	3267	c.2755C>T	c.(2755-2757)Ctg>Ttg	p.L919L	SLC4A3_ENST00000273063.6_Silent_p.L946L|SLC4A3_ENST00000373760.2_Silent_p.L919L|SLC4A3_ENST00000317151.3_Silent_p.L919L|SLC4A3_ENST00000373762.3_Silent_p.L946L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	919	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCCGCTTCCTGGGGGGCAA	0.617000													28	20					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54605456	54605456	+	Missense_Mutation	SNP	G	G	A	rs140548583		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:54605456G>A	ENST00000371330.1	-	4	1934	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	CDCP2_ENST00000530059.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	363	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						AAGCCCCTGCGGGTGGTGCTG	0.627000													44	3					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921413	24921413	+	Silent	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:24921413G>A	ENST00000329468.2	+	1	873	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P133P(1)									CACGTGAGCCGGCGGTCAAGG	0.632000													17	28					0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114825234	114825234	+	Silent	SNP	C	C	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:114825234C>T	ENST00000374270.3	-	13	2005	c.1833G>A	c.(1831-1833)gaG>gaA	p.E611E	SUSD1_ENST00000374263.3_Silent_p.E611E|SUSD1_ENST00000374264.2_Silent_p.E611E	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	611						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTCCATTTTTCTCCTTGGCTT	0.478000													49	67					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4622657	4622657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:4622657G>A	ENST00000269260.2	+	11	1092	c.859G>A	c.(859-861)Ggt>Agt	p.G287S	ARRB2_ENST00000572457.1_Missense_Mutation_p.G95S|ARRB2_ENST00000346341.2_Missense_Mutation_p.G272S|ARRB2_ENST00000571206.1_Missense_Mutation_p.G95S|ARRB2_ENST00000412477.3_Missense_Mutation_p.G308S|ARRB2_ENST00000574954.1_Missense_Mutation_p.G95S|ARRB2_ENST00000575877.1_Intron|ARRB2_ENST00000381488.6_Missense_Mutation_p.G272S	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	287	Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						GGAGAAGCGGGGTCTCGCCCT	0.627000													31	34					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)ccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								7	252	---	---	---	---					
TNXB	7148	broad.mit.edu	37	6	32063513	32063514	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:32063513_32063514delAC	ENST00000375244.3	-	3	2317_2318	c.2116_2117delGT	c.(2116-2118)afs	p.V706fs	TNXB_ENST00000479795.1_Frame_Shift_Del_p.V706fs|TNXB_ENST00000375247.2_Frame_Shift_Del_p.V706fs			P22105	TENX_HUMAN	tenascin XB	706	EGF-like 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAAGCCCTCTACACACACACAC	0.668													11	696	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32522380	32522381	+	RNA	INS	-	-	G	rs67825284		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:32522380_32522381insG	ENST00000411500.1	-	0	740					NR_001298.1																						GAAAATAGGATTGGGAGAGTAG	0.475													17	51	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77617546	77617547	+	Frame_Shift_Ins	INS	-	-	G	rs13252403		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:77617546_77617547insG	ENST00000521891.2	+	2	1671_1672	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.R408fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	408						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)			GAAGTGAATCTGGGGGGGCTGT	0.535										HNSCC(33;0.089)			11	32	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21142454	21142455	+	RNA	INS	-	-	C	rs45603533	by1000genomes	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:21142454_21142455insC	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							AAAAAAAAAAACCCCACCTAAT	0.376													6	13	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:56099187delT	ENST00000426658.2	-	1	736	c.75delA	c.(73-75)aafs	p.K25fs	CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													7	493	---	---	---	---					
