Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FBXO18	84893	broad.mit.edu	37	10	5937086	5937086	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:5937086C>T	uc001iit.3	+	1	194	c.90C>T	c.(88-90)ggC>ggT	p.G30G	FBXO18_uc001iir.3_Intron|FBXO18_uc001iis.3_Intron|FBXO18_uc009xig.3_Intron	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	0					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGCCCCTGGGCCATCTCCACA	0.552000														69			12		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698702	187698702	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:187698702G>A	uc002upu.1	-	5	839	c.799C>T	c.(799-801)Cat>Tat	p.H267Y		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	267					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGGGAAAGATGGCAGCAGCTA	0.358000														95			8		0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31486981	31486981	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:31486981C>T	uc003ajl.2	+	9	1213	c.972C>T	c.(970-972)ttC>ttT	p.F324F	SMTN_uc003ajk.2_Silent_p.F324F|SMTN_uc003ajm.2_Silent_p.F324F|SMTN_uc011ale.2_Silent_p.F378F|SMTN_uc011alf.2_Silent_p.F380F|SMTN_uc003ajn.2_Silent_p.F316F|SMTN_uc011alg.2_5'UTR|SMTN_uc003ajo.2_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	324					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CTTCCTCATTCCAGCGGGCTG	0.602000														116			6		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942557	144942557	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:144942557T>C	uc003zaa.1	-	0	4878	c.4865A>G	c.(4864-4866)aAg>aGg	p.K1622R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1622						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.R1621W(1)		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)			CACGGTCAGCTTCCGGTTCTC	0.647000														68			31		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870625	51870625	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:51870625A>G	uc002xwo.3	+	1	1515	c.628A>G	c.(628-630)Aca>Gca	p.T210A	TSHZ2_uc021wex.1_Missense_Mutation_p.T207A	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	210					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GACTGTGTTCACAGGGGCCAG	0.572000														53			12		0	0	1	0	0
FAM76A	199870	broad.mit.edu	37	1	28075618	28075619	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:28075618_28075619CC>TT	uc001bor.3	+	6	756_757	c.654_655CC>TT	c.(652-657)atccca>atTTca	p.P219S	FAM76A_uc009vtb.3_Missense_Mutation_p.P185S|FAM76A_uc001boq.3_Missense_Mutation_p.P185S|FAM76A_uc001bos.3_Intron|FAM76A_uc001bot.3_Intron|FAM76A_uc010ofm.2_Intron	NM_001143912	NP_001137384	Q8TAV0	FA76A_HUMAN	Homo sapiens family with sequence similarity 76, member A (FAM76A), transcript variant 1, mRNA.	185										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AAAATGAAATCCCAAAGAAAAA	0.356000														60			5		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411555	23411555	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:23411555C>T	uc004dal.4	+	2	1928	c.1920C>T	c.(1918-1920)gtC>gtT	p.V640V		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	640					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						ATGATGAGGTCGATGTAGTGG	0.398000														34			17		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	780983	780983	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:780983G>A	uc010krz.1	+	4	926	c.906_splice	c.e4-1	p.R302_splice	HEATR2_uc003siz.2_Splice_Site_p.R170_splice	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	302							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TTGTGCCTCAGGCAGCTGGCT	0.647000														17			8		0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18893611	18893611	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:18893611G>A	uc002dfm.3	-	9	1532	c.1169C>T	c.(1168-1170)cCt>cTt	p.P390L	SMG1_uc010bwb.3_Missense_Mutation_p.P250L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	390	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CACTGATGGAGGAGGGACATC	0.473000														38			8		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510897	110510897	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:110510897G>A	uc003yne.3	+	66	10829	c.10725G>A	c.(10723-10725)ggG>ggA	p.G3575G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3575					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)			GGAGAAGTGGGATTTGTTGGC	0.393000										HNSCC(38;0.096)				49			9		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57958276	57958276	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:57958276C>T	uc001sor.1	+	4	638	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	KIF5A_uc010srr.1_Missense_Mutation_p.R55C	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	144	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.R144C(2)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGACAAAATTCGTGACCTTCT	0.418000														105			26		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22202128	22202128	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:22202128C>T	uc003svg.3	-	12	1169	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	RAPGEF5_uc011jyl.1_5'UTR	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	136					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCTGAGTTTTCCTCTTTGCCT	0.348000														47			5		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265760	10265760	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:10265760C>T	uc002gmk.1	-	3	355	c.265G>A	c.(265-267)Gag>Aag	p.E89K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	89	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCATGTCCTCGATCTTGTCA	0.473000														201			25		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178551987	178551987	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:178551987C>T	uc003mjw.3	-	18	3047	c.2945G>A	c.(2944-2946)gGg>gAg	p.G982E		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	982	TSP type-1 4.				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)		GGACCAGGGCCCGGCTCGCCA	0.692000														58			10		0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	C	C	rs143747399	by1000genomes	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:43915893G>C	uc004ada.2	+	22	4151	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I	CNTNAP3B_uc004adb.3_Missense_Mutation_p.M161I	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	1247					cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433000														15			5		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804803	54804803	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:54804803T>A	uc003pck.3	+	4	1150	c.1034T>A	c.(1033-1035)tTa>tAa	p.L345*		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	345										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATATATACTTTAAATGAACAT	0.343000														66			10		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902822	22902822	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:22902822G>A	uc001bfx.1	+	2	397	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	EPHA8_uc001bfw.3_Missense_Mutation_p.R91Q	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	91						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGGTCCCCCGAGACGGCGCC	0.612000														72			12		0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2906795	2906795	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:2906795C>T	uc003gfq.3	+	9	1654	c.1466C>T	c.(1465-1467)tCg>tTg	p.S489L	ADD1_uc003gfo.3_Missense_Mutation_p.S489L|ADD1_uc003gfp.3_Intron|ADD1_uc003gfr.3_Intron|ADD1_uc003gfs.3_Intron|ADD1_uc003gft.3_Missense_Mutation_p.S489L	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	471					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGTCTCTCTCGTCCGGTGTC	0.522000														74			20		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906752	13906752	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:13906752G>A	uc001rbt.2	-	2	688	c.509C>T	c.(508-510)tCt>tTt	p.S170F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	170					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTGACGATAGAAAAGATGTA	0.463000														112			14		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161021228	161021228	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:161021228C>T	uc001fxl.3	-	9	1642	c.1296G>A	c.(1294-1296)ccG>ccA	p.P432P	ARHGAP30_uc001fxk.3_Silent_p.P432P|ARHGAP30_uc001fxm.3_Silent_p.P278P|ARHGAP30_uc009wtx.3_Silent_p.P105P|ARHGAP30_uc001fxn.1_Silent_p.P278P	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	432					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGATGATGTTCGGGGGCACAC	0.622000														108			23		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70533446	70533446	+	Silent	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:70533446A>G	uc003xyg.2	+	12	2115	c.1554A>G	c.(1552-1554)agA>agG	p.R518R	SULF1_uc010lza.1_Silent_p.R518R|SULF1_uc003xyd.2_Silent_p.R518R|SULF1_uc003xye.2_Silent_p.R518R|SULF1_uc003xyf.2_Silent_p.R518R|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	518					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GAAGCCAAAGAAAGAGTCAAC	0.522000														36			4		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19068000	19068000	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:19068000C>T	uc002dfp.2	+	13	2138	c.2008C>T	c.(2008-2010)Cct>Tct	p.P670S	TMC7_uc002dfq.3_Missense_Mutation_p.P670S|TMC7_uc010vap.2_Missense_Mutation_p.P560S	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	670						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTTTGCAGTTCCTTTCTTCAT	0.587000														99			16		0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050909	110050910	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:110050909_110050910GG>AA	uc021org.1	-	0	625_626	c.625_626CC>TT	c.(625-627)ccg>TTg	p.P209L	AMIGO1_uc001dxx.4_Missense_Mutation_p.P209L	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	209					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GATCCAGGCCGGCAGCTTCTGC	0.530000														109			9		0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217394	150217395	+	Missense_Mutation	DNP	CC	TT	TT	rs144054418		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:150217394_150217395CC>TT	uc003whk.3	+	1	462_463	c.332_333CC>TT	c.(331-333)acc>aTT	p.T111I	GIMAP7_uc022apu.1_Missense_Mutation_p.T111I	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	111							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCAGAAAACCGTTGCATTGA	0.535000														60			22		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193209121	193209121	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:193209121C>T	uc003ftd.3	-	5	708	c.600G>A	c.(598-600)aaG>aaA	p.K200K	ATP13A4_uc003fte.1_Silent_p.K200K|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	200					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)		AAATTACCTCCTTGATGAGCA	0.363000														98			23		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124419271	124419272	+	Silent	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:124419271_124419272CC>TT	uc001uft.4	+	76	13252_13253	c.13227_13228CC>TT	c.(13225-13230)atcctg>atTTtg	p.4409_4410IL>IL	DNAH10_uc001ufu.4_Silent_p.322_323IL>IL	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4409					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCTGCCGATCCTGAAGATCAT	0.530000														46			4		0	0	1	0	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117013787	117013787	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:117013787G>A	uc009zwk.1	+	1	194	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	MAP1LC3B2_uc021rej.1_Missense_Mutation_p.E14K	NM_001085481	NP_001078950	A6NCE7	MP3B2_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 beta 2 (MAP1LC3B2), mRNA.	14					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						GCGCACCTTCGAACAAAGAGT	0.587000														78			28		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554681	52554681	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:52554681G>A	uc003dej.3	+	53	5747	c.5673G>A	c.(5671-5673)ctG>ctA	p.L1891L	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1891					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTGTGGGCTGGAGCCACCCT	0.647000														202			11		0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71094430	71094430	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:71094430G>A	uc004agr.3	+	7	1485	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	419					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	p.R419*(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GAAATTGTCCGAGATCACTGG	0.537000														97			36		0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65705894	65705894	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:65705894C>T	uc003tuw.3	+	1	834	c.482C>T	c.(481-483)cCt>cTt	p.P161L	TPST1_uc010kzy.2_Intron	NM_003596	NP_003587	O60507	TPST1_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA.	161					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AATAAAGATCCTTTTGCCCTG	0.423000														49			7		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	333660	333660	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:333660G>A	uc001qic.2	-	9	1170	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	SLC6A13_uc009zdj.2_Silent_p.I350I|SLC6A13_uc010sdl.2_Silent_p.I268I	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	360					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GCGGGTAAGCGATGAAAGCCA	0.622000														57			15		0	0	1	0	0
UBD	10537	broad.mit.edu	37	6	29523699	29523699	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:29523699C>T	uc003nmo.3	-	1	680	c.456G>A	c.(454-456)aaG>aaA	p.K152K	GABBR1_uc003nmp.4_3'UTR	NM_006398	NP_006389	O15205	UBD_HUMAN	Homo sapiens ubiquitin D (UBD), mRNA.	152	Ubiquitin 2.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of apoptosis|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GTAAGTTGCCCTTTCTGATGC	0.463000														106			19		0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51446259	51446259	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:51446259C>T	uc001wyx.4	-	8	2681	c.1916G>A	c.(1915-1917)gGa>gAa	p.G639E	TRIM9_uc001wyy.2_Missense_Mutation_p.G720E	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	639	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.E638*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGTGATCCCTCCCTCAGTTCT	0.433000														139			40		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58240877	58240877	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:58240877G>C	uc001vhq.1	+	2	3599	c.2707G>C	c.(2707-2709)Gac>Cac	p.D903H	PCDH17_uc010aec.1_Missense_Mutation_p.D902H|PCDH17_uc001vhr.1_5'UTR	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	903					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGTGACCAAGACACTAACAA	0.473000														60			9		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424369	125424369	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:125424369C>T	uc022bmz.1	+	0	375	c.375C>T	c.(373-375)gcC>gcT	p.A125A		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCTATGTGGCCATATGTAATC	0.473000														214			75		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113580	55113580	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:55113580G>A	uc003pcl.3	+	1	682	c.367G>A	c.(367-369)Gga>Aga	p.G123R	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.G58R	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	123					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGGTTTTTTGGACAGTCCCT	0.428000														258			55		0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61650938	61650938	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:61650938C>T	uc002ljv.3	+	4	719	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F	SERPINB8_uc002ljt.3_Missense_Mutation_p.L184F|SERPINB8_uc002lju.3_Missense_Mutation_p.L184F|SERPINB8_uc010xex.2_Missense_Mutation_p.L2F	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	184					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AAGGGGAATGCTCTTTAAAAC	0.363000														77			26		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154593138	154593138	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:154593138G>A	uc003wlk.3	+	12	1502	c.1373G>A	c.(1372-1374)gGg>gAg	p.G458E	DPP6_uc003wli.3_Missense_Mutation_p.G394E|DPP6_uc003wlm.3_Missense_Mutation_p.G396E|DPP6_uc011kvq.2_Missense_Mutation_p.G351E	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	458					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGAGGACGAGGGAAATTCTAT	0.537000														16			4		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518327	233518327	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:233518327C>T	uc001hvt.4	+	9	3242	c.2981C>T	c.(2980-2982)tCc>tTc	p.S994F	KIAA1804_uc001hvu.4_Missense_Mutation_p.S440F	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	994					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AGAACTAAATCCCATGTGCCT	0.552000														111			23		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134968304	134968304	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:134968304C>T	uc003eqt.3	+	14	3192	c.2817C>T	c.(2815-2817)tcC>tcT	p.S939S	EPHB1_uc003equ.3_Silent_p.S500S	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	939	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCTTCACCTCCCTCCAGCTGG	0.552000														155			24		0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112182658	112182658	+	Silent	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:112182658T>C	uc009zvx.3	+	13	2219	c.2019T>C	c.(2017-2019)gcT>gcC	p.A673A	ACAD10_uc001tsp.3_Silent_p.A642A|ACAD10_uc001tsq.3_Silent_p.A642A|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	642							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TTCCAGAAGCTTCCCCAGCTC	0.572000														79			5		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56101443	56101443	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:56101443G>A	uc001shh.3	-	0	244	c.24C>T	c.(22-24)gaC>gaT	p.D8D	ITGA7_uc001shg.3_Silent_p.D8D|ITGA7_uc010sps.2_Intron	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	8					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCCCCAAGGGTCGCGGCTCC	0.662000														6			3		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65181320	65181320	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:65181320C>T	uc002lke.1	-	1	1780	c.556G>A	c.(556-558)Ggt>Agt	p.G186S	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Missense_Mutation_p.G186S	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	176						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTGGCAAAACCTGTTAAGGAA	0.373000														50			9		0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40850805	40850806	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:40850805_40850806CC>TT	uc002iay.3	+	23	4248_4249	c.4032_4033CC>TT	c.(4030-4035)acccct>acTTct	p.P1345S	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	1345					axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGGTCCCCACCCCTACAGCAGC	0.649000														77			5		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54758680	54758680	+	Silent	SNP	T	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:54758680T>G	uc010yer.1	-	5	1257	c.1146A>C	c.(1144-1146)ggA>ggC	p.G382G	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.G391G|LILRB5_uc002qez.3_Silent_p.G291G|LILRB5_uc002qex.3_Silent_p.G391G|LILRB5_uc002qfa.1_Silent_p.G281G|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	391	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCGGTAGGTTCCACCCTGGG	0.587000														77			5		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71576996	71576997	+	Missense_Mutation	DNP	CC	TT	TT	rs145388354		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:71576996_71576997CC>TT	uc002shx.3	+	1	1235_1236	c.912_913CC>TT	c.(910-915)gtcctt>gtTTtt	p.L305F	ZNF638_uc010fec.2_Missense_Mutation_p.L411F|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.L305F|ZNF638_uc002shz.3_Missense_Mutation_p.L305F|ZNF638_uc002shy.3_Missense_Mutation_p.L305F|ZNF638_uc002sia.3_Missense_Mutation_p.L305F|ZNF638_uc002sib.1_Missense_Mutation_p.L305F	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	305					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GACAGTCAGTCCTTGAACCCAT	0.441000														143			15		0	0	1	0	0
VAT1	10493	broad.mit.edu	37	17	41170630	41170630	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:41170630C>T	uc002icm.1	-	1	694	c.574G>A	c.(574-576)Gtc>Atc	p.V192I	VAT1_uc010cyw.1_Missense_Mutation_p.V58I|VAT1_uc010whk.1_Missense_Mutation_p.V124I	NM_006373	NP_006364	Q99536	VAT1_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica) (VAT1), mRNA.	192						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGTACCAAGACGCTGTGGCCA	0.557000														44			8		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107299020	107299020	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:107299020G>A	uc004bcb.1	-	0	75	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTGCTTTCAGGAAATCAAAAG	0.348000														37			8		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51200372	51200372	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:51200372C>T	uc002psx.1	-	13	1964	c.1945G>A	c.(1945-1947)Gat>Aat	p.D649N		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	649					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCAATCCCATCCATTAAGCTT	0.647000														224			16		0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39040771	39040771	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:39040771G>A	uc003ooj.4	+	5	703	c.643G>A	c.(643-645)Gat>Aat	p.D215N	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	215					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GCACCAGTGGGATGGGCTCCT	0.612000														113			18		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457192	110457192	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:110457192C>T	uc003yne.3	+	37	5198	c.5094C>T	c.(5092-5094)ttC>ttT	p.F1698F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1698	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P1701fs*7(1)		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)			TGGGTCATTTCCCATGTAAAG	0.438000										HNSCC(38;0.096)				149			39		0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136605704	136605704	+	Missense_Mutation	SNP	G	A	A	rs142938887		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:136605704G>A	uc002tuw.3	-	13	2048	c.1972C>T	c.(1972-1974)Cgt>Tgt	p.R658C		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	658					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GTTTCCACACGGATGATTGAT	0.393000														86			12		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185818	8185818	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:8185818G>A	uc003wsh.4	-	3	2474	c.2474C>T	c.(2473-2475)tCa>tTa	p.S825L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	825							ATP binding|non-membrane spanning protein tyrosine kinase activity										GCCATCCGGTGAAGAGGCTGC	0.612000														117			27		0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6426893	6426893	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:6426893C>T	uc003spx.3	+	1	327	c.86C>T	c.(85-87)cCt>cTt	p.P29L	RAC1_uc003spw.3_Missense_Mutation_p.P29L|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	29					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	AATGCATTTCCTGGAGAATAT	0.353000														126			21		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76472765	76472765	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:76472765G>A	uc010dhp.2	-	51	8168	c.8043C>T	c.(8041-8043)gtC>gtT	p.V2681V		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCAAAGGCGGACGAGGTCCA	0.502000														23			4		0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74133668	74133668	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:74133668C>T	uc002jqx.3	-	2	1387	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	344					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			TGGTGAGGTCCACGTCCACGT	0.697000														14			3		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086747	39086747	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:39086747C>T	uc011aej.1	-	2	766	c.713G>A	c.(712-714)aGa>aAa	p.R238K	KCNJ6_uc002ywo.2_Missense_Mutation_p.R238K	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	238					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CAACTTGGCTCTGATGGAAGC	0.527000														83			10		0	0	1	0	0
MBL2	4153	broad.mit.edu	37	10	54530490	54530490	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:54530490G>A	uc001jjt.3	-	1	309	c.244C>T	c.(244-246)Cca>Tca	p.P82S		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	82	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GAAGGCCCTGGATTTCCTGGA	0.547000														58			28		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57399072	57399072	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:57399072G>A	uc001cyp.3	-	9	1555	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	C8B_uc010oon.2_Silent_p.F434F|C8B_uc010ooo.2_Silent_p.F444F	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	496	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTTCCTTCTGGAACTCCTCCA	0.532000														72			4		0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38287858	38287858	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:38287858C>T	uc001cce.1	-	8	1843	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R	MTF1_uc009vvj.1_Missense_Mutation_p.G259R	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	568						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	p.M567I(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCTGTTCTCCCATGACTAGG	0.448000														69			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481477	179481477	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179481477C>T	uc021vsy.1	-	204	40660	c.40435G>A	c.(40435-40437)Gaa>Aaa	p.E13479K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E7174K|TTN_uc021vta.1_Missense_Mutation_p.E7107K|TTN_uc021vtb.1_Missense_Mutation_p.E6982K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14406	Ig-like 91.						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)			ACATCAATTTCCCCAGAAATT	0.358000														139			19		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115350520	115350520	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:115350520C>T	uc001lal.3	-	39	4937	c.4773G>A	c.(4771-4773)aaG>aaA	p.K1591K	NRAP_uc009xyb.3_Silent_p.K344K|NRAP_uc001laj.3_Silent_p.K1591K|NRAP_uc001lak.3_Silent_p.K1556K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1591						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGGCAAAGTCCTTCTTGTACT	0.572000														114			29		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19467963	19467963	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:19467963G>A	uc001bbi.3	-	56	8370	c.8366C>T	c.(8365-8367)cCc>cTc	p.P2789L	UBR4_uc001bbk.1_Missense_Mutation_p.P471L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2789					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCCTCCAGGGGAGAGGGGTT	0.567000														78			7		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2369795	2369795	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:2369795C>T	uc002cpy.1	-	7	1372	c.660G>A	c.(658-660)cgG>cgA	p.R220R	ABCA3_uc010bsk.1_Silent_p.R220R|ABCA3_uc010bsl.1_Silent_p.R220R	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	220					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCATGATGGCCCGGTCCACAG	0.647000														103			12		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41566302	41566302	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:41566302C>T	uc003xok.3	-	16	2076	c.1992G>A	c.(1990-1992)ggG>ggA	p.G664G	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_5'Flank|ANK1_uc003xoi.3_Silent_p.G664G|ANK1_uc003xoj.3_Silent_p.G664G|ANK1_uc003xol.3_Silent_p.G664G|ANK1_uc003xom.3_Silent_p.G697G	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	664	89 kDa 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)			CTACCTTGTTCCCCAGGTTGC	0.567000														199			31		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671936	45671937	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:45671936_45671937CC>TT	uc021qgn.1	-	0	537_538	c.537_538GG>AA	c.(535-540)ggggac>ggAAac	p.D180N	CHST1_uc001mys.2_Missense_Mutation_p.D180N	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	180					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGCACACAGTCCCCCTCCTCCA	0.723000														59			5		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27172647	27172647	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:27172647A>G	uc011lno.2	+	4	1104	c.662A>G	c.(661-663)aAc>aGc	p.N221S	TEK_uc010mjc.1_Missense_Mutation_p.N74S|TEK_uc011lnn.1_Missense_Mutation_p.N221S|TEK_uc003zqi.4_Missense_Mutation_p.N221S|TEK_uc011lnp.2_Missense_Mutation_p.N117S|TEK_uc003zqj.1_Missense_Mutation_p.N198S	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	221	EGF-like 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CCTGAATGCAACCATCTCTGT	0.473000														45			11		0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899900	4899900	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:4899900T>G	uc003snk.3	-	0	1726	c.1542A>C	c.(1540-1542)agA>agC	p.R514S	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	513					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CTGTCAATCTTCTACCTTCTG	0.438000														65			10		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55086301	55086301	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:55086301C>T	uc010ern.3	+	4	925	c.456C>T	c.(454-456)ttC>ttT	p.F152F	LILRA1_uc002qgg.4_Silent_p.F152F|LILRA1_uc002qgf.3_Silent_p.F152F|LILRA1_uc010yfe.1_Silent_p.F152F|LILRA1_uc010yff.1_Silent_p.F140F|LILRA1_uc010ero.3_Silent_p.F140F|LILRA1_uc010yfg.1_Silent_p.F152F			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	154	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.G152G(1)|p.F151L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTGACGGCTTCATTCTGTGTA	0.587000														133			31		0	0	1	0	0
FAM98A	25940	broad.mit.edu	37	2	33810001	33810001	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:33810001G>A	uc002rpa.1	-	7	1473	c.1399C>T	c.(1399-1401)Cgt>Tgt	p.R467C	FAM98A_uc010yne.1_Missense_Mutation_p.R272C|FAM98A_uc010ynd.1_Missense_Mutation_p.R298C|FAM98A_uc002roz.1_Missense_Mutation_p.R305C	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	468	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					cggcctccacgaccacctcgc	0.592000														94			8		0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28282243	28282243	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:28282243A>T	uc001bpg.3	+	5	930	c.739A>T	c.(739-741)Aac>Tac	p.N247Y	SMPDL3B_uc001bpf.3_Missense_Mutation_p.N247Y|SMPDL3B_uc010ofq.2_Missense_Mutation_p.N41Y|SMPDL3B_uc010ofr.2_Missense_Mutation_p.N199Y	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	247					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GAAGACGCAAAACAAGGCATG	0.567000														118			7		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72147133	72147133	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:72147133G>A	uc021rkj.1	-	3	1567	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	432	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ATCATAAAAGGAAGTTCCAGT	0.398000														54			5		0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88723968	88723968	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:88723968C>T	uc002flg.1	-	3	286	c.279G>A	c.(277-279)cgG>cgA	p.R93R	MVD_uc002flf.1_5'Flank	NM_002461	NP_002452	P53602	MVD1_HUMAN	Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.	93					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|Hsp70 protein binding|diphosphomevalonate decarboxylase activity|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GTGAGTTCCTCCGCTTCCGGG	0.697000														67			11		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561798	142561798	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:142561798C>T	uc011kst.2	+	6	1027	c.240C>T	c.(238-240)gcC>gcT	p.A80A	EPHB6_uc011ksu.2_Silent_p.A80A|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	80						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGGCAGGGGCCCCTCCAGGCA	0.627000														294			58		0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892707	72892707	+	Missense_Mutation	SNP	G	A	A	rs147580745		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:72892707G>A	uc003tyc.3	-	6	1436	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	362	Lys-rich.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	p.P362S(2)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGTTCTTCAGGAGATTTGGAA	0.418000														41			6		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809129	48809129	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:48809129G>A	uc002rwp.2	+	1	1471	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E453K|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.E453K|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.E453K|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E453K	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	453					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGGGAACCTGGAATGCTTTTT	0.383000														126			10		0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	64985141	64985141	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:64985141C>T	uc021qlg.1	+	2	654	c.621C>T	c.(619-621)atC>atT	p.I207I	SLC22A20_uc021qlh.1_5'UTR	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA.	205					ion transport	integral to membrane	transmembrane transporter activity	p.I207V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CTGGCATCATCCTCAACTCCG	0.647000														51			20		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25568610	25568610	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:25568610G>A	uc002kwg.2	-	10	2078	c.1619C>T	c.(1618-1620)cCt>cTt	p.P540L	CDH2_uc010xbn.1_Missense_Mutation_p.P509L	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	540	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCAATTGGCAGGATCAGATAA	0.284000														23			4		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615429	55615429	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:55615429C>T	uc010spf.2	+	0	621	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCCTGTTTATCATGTTTCCCT	0.443000														69			8		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941042	52941042	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:52941042G>A	uc002pzk.3	+	3	435	c.368G>A	c.(367-369)gGa>gAa	p.G123E	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.G110E	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G123V(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AATCAACATGGATTAACTCTT	0.358000														34			8		0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10434207	10434207	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:10434207G>A	uc002moa.3	-	3	923	c.843C>T	c.(841-843)ttC>ttT	p.F281F		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	264	RRM 3.					cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCAGCACCGCGAAGCCCTTCA	0.677000														76			14		0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67786786	67786786	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:67786786C>T	uc003xwz.4	+	3	421	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F	MCMDC2_uc003xwv.3_Missense_Mutation_p.L84F|MCMDC2_uc011lev.2_Missense_Mutation_p.L84F|MCMDC2_uc011lew.2_Missense_Mutation_p.L15F|MCMDC2_uc011lex.2_5'UTR|MCMDC2_uc003xwy.4_Missense_Mutation_p.L84F	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	84					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TGTTAAGACTCTCTCATTAAT	0.294000														18			8		0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133355132	133355132	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:133355132G>A	uc010mza.3	+	10	1454	c.946G>A	c.(946-948)Gat>Aat	p.D316N	ASS1_uc004bzm.3_Missense_Mutation_p.D240N|ASS1_uc004bzn.3_Missense_Mutation_p.D240N	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	240					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CAACGTCAAGGATGGCACCAC	0.647000														90			20		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244586	46244586	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:46244586C>T	uc001ros.1	+	14	2680	c.2680C>T	c.(2680-2682)Cag>Tag	p.Q894*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q894*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q350*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q521*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q228*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	894	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGTAGGGTTTCAGAACATTGC	0.458000			"""N, S, F"""		hepatocellular carcinoma									67			24		0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100244204	100244204	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:100244204G>A	uc003uvy.3	-	11	1190	c.1083C>T	c.(1081-1083)ctC>ctT	p.L361L	ACTL6B_uc003uvz.3_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	361					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCTCTCGATTGAGCCTGTCAG	0.632000														116			11		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105811955	105811955	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:105811955G>A	uc001kxr.3	-	23	2129	c.1960C>T	c.(1960-1962)Cct>Tct	p.P654S		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	654	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGCCATGAGGACCTGGTTCA	0.567000														177			54		0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151545384	151545384	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:151545384C>T	uc003eze.3	+	4	714	c.624C>T	c.(622-624)gtC>gtT	p.V208V		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	208					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)			ACCCAGATGTCAAGATCAAAC	0.318000														52			7		0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109778669	109778669	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:109778669C>T	uc001dwu.2	+	7	1140	c.1040C>T	c.(1039-1041)aCc>aTc	p.T347I		NM_006513	NP_006504	P49591	SYSC_HUMAN	Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA.	347					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|RNA binding|protein binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	ATGATTACCACCGCAGAGGAG	0.488000														90			16		0	0	1	0	0
CERS1	10715	broad.mit.edu	37	19	18995023	18995024	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:18995023_18995024GG>AA	uc002nki.1	-	2	534_535	c.462_463CC>TT	c.(460-465)ctccag>ctTTag	p.Q155*	CERS1_uc002nkj.3_Nonsense_Mutation_p.Q155*|CERS1_uc010ebx.3_Nonsense_Mutation_p.Q57*	NM_021267	NP_067090	P27544	CERS1_HUMAN	Homo sapiens ceramide synthase 1 (CERS1), transcript variant 1, mRNA.	155	TLC.				ceramide biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						AAGCTTCCCTGGAGCAGGTAGG	0.604000														22			5		0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80646596	80646596	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:80646596G>A	uc002ffs.3	-	4	1250	c.1145C>T	c.(1144-1146)cCc>cTc	p.P382L		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	382						nucleus	catalytic activity|protein binding	p.T381M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGTGGCGTAGGGCGTCTGGAA	0.652000														67			17		0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100625025	100625025	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:100625025C>T	uc010nno.2	-	4	687	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	BTK_uc004ehg.2_Missense_Mutation_p.E118K|BTK_uc010nnn.2_Missense_Mutation_p.E118K|BTK_uc004ehi.3_Missense_Mutation_p.E118K	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	118					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTAGTTCTTCAGTTGGGGAG	0.418000									Agammaglobulinemia, X-linked					43			33		0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31322465	31322465	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:31322465G>A	uc002hhs.1	+	1	148	c.73G>A	c.(73-75)Gga>Aga	p.G25R	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	25					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			TTCTGTGAGTGGACCACGGAG	0.617000														135			16		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768049	57768049	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:57768049C>T	uc002yan.3	+	0	1975	c.1975C>T	c.(1975-1977)Cct>Tct	p.P659S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	659						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTGGGCTTTCCTCTGCAGAA	0.582000														71			13		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802688	185802688	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:185802688G>A	uc002uph.3	+	3	3159	c.2565G>A	c.(2563-2565)gaG>gaA	p.E855E		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	855						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACAAAAAAGAGAAAATGAAAC	0.333000														34			3		0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7727918	7727918	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:7727918C>T	uc010rbf.2	-	0	24	c.24G>A	c.(22-24)ctG>ctA	p.L8L		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											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)		GTAGTAAAATCAGCTTGTTCC	0.358000														5			4		0	0	1	0	0
GFI1	2672	broad.mit.edu	37	1	92941724	92941724	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:92941724G>A	uc001dou.4	-	6	1295	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	GFI1_uc001dov.4_Silent_p.F377F|GFI1_uc001dow.4_Silent_p.F377F	NM_001127215	NP_005254	Q99684	GFI1_HUMAN	Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA.	377					negative regulation of NF-kappaB transcription factor activity|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		AGCTCTGGCTGAATGCCTTGC	0.582000														27			4		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517365	140517365	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140517365G>A	uc003liq.3	+	0	2566	c.2349G>A	c.(2347-2349)ggG>ggA	p.G783G		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	783					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGAAATAGGGAAAACTGCTG	0.468000														119			14		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207741189	207741189	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:207741189C>T	uc001hfy.3	+	16	2763	c.2623C>T	c.(2623-2625)Cca>Tca	p.P875S	CR1_uc009xcl.1_Missense_Mutation_p.P425S|CR1_uc001hfx.3_Missense_Mutation_p.P1325S|CR1_uc021pij.1_Missense_Mutation_p.P875S|CR1_uc009xck.1_Missense_Mutation_p.P425S	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	875	Sushi 14.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.I874I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCAAGTCCTCCAGTTATTCC	0.433000														259			21		0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089382	43089382	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:43089382C>T	uc001jaf.1	-	4	1131	c.1016G>A	c.(1015-1017)tGg>tAg	p.W339*	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Nonsense_Mutation_p.W227*|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	339						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGACTTCTCCCAGAAAGCTTT	0.413000														186			27		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27333070	27333070	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:27333070G>A	uc003cdt.2	-	17	1655	c.1381C>T	c.(1381-1383)Ccc>Tcc	p.P461S	NEK10_uc003cds.1_5'UTR	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	461							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGTCTGTGGGGAAAAGTCTA	0.358000														33			5		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31439085	31439085	+	Splice_Site	SNP	C	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:31439085C>G	uc002hht.3	-	2	1582	c.709_splice	c.e2-1	p.V237_splice	ASIC2_uc002hhu.3_Splice_Site_p.V186_splice	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	186					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TTTGTAAACACCTGAAGGAGA	0.522000														21			3		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78340189	78340189	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:78340189G>A	uc003kfs.3	-	5	938	c.932C>T	c.(931-933)cCa>cTa	p.P311L	DMGDH_uc011cte.1_Missense_Mutation_p.P161L|DMGDH_uc011ctf.1_Missense_Mutation_p.P110L|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	311					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACTTTCATATGGACCAAACAA	0.453000														64			11		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150911042	150911042	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:150911042C>T	uc004fey.1	+	5	741	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	173					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCTACTACCTGGTGTGGCT	0.552000														102			64		0	0	1	0	0
CELF6	60677	broad.mit.edu	37	15	72580713	72580713	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:72580713G>A	uc002aui.2	-	9	2033	c.1572C>T	c.(1570-1572)ccC>ccT	p.P524P	BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Non-coding_Transcript|CELF6_uc010biv.1_Non-coding_Transcript|CELF6_uc010ukl.1_Silent_p.P281P|CELF6_uc010biw.2_Silent_p.P305P|CELF6_uc002auh.2_Silent_p.P418P|CELF6_uc010ukm.1_Silent_p.P391P|CELF6_uc002auj.2_Silent_p.P305P	NM_001172685	NP_001166156	Q96J87	CELF6_HUMAN	Homo sapiens CUGBP, Elav-like family member 6 (CELF6), transcript variant 3, mRNA.	418					mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CGGCTCCAAAGGGCAGGAATG	0.532000														147			22		0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23709814	23709814	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:23709814C>T	uc003xdw.1	-	1	486	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	68					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TACATCCCATCTGTGTCACAG	0.493000														98			29		0	0	1	0	0
MBD4	8930	broad.mit.edu	37	3	129156739	129156739	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:129156739C>T	uc003emh.1	-	1	335	c.159G>A	c.(157-159)atG>atA	p.M53I	IFT122_uc003eml.3_5'Flank|IFT122_uc003emm.3_5'Flank|IFT122_uc003emn.3_5'Flank|IFT122_uc003emo.3_5'Flank|IFT122_uc003emp.3_5'Flank|IFT122_uc010htc.3_5'Flank|IFT122_uc011bky.2_5'Flank|MBD4_uc003emi.1_Missense_Mutation_p.M53I|MBD4_uc003emj.1_Missense_Mutation_p.M53I|MBD4_uc003emk.1_Missense_Mutation_p.M53I|MBD4_uc011bkw.1_Missense_Mutation_p.M53I|IFT122_uc011bkx.1_5'Flank	NM_003925	NP_003916	O95243	MBD4_HUMAN	Homo sapiens methyl-CpG binding domain protein 4 (MBD4), mRNA.	53					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTTTTATCATCATTTGTTCCT	0.383000								Base excision repair (BER), DNA glycosylases						171			33		0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	167962580	167962580	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:167962580C>T	uc001gew.3	+	6	1158	c.805C>T	c.(805-807)Ctc>Ttc	p.L269F	DCAF6_uc001gex.3_Missense_Mutation_p.L269F|DCAF6_uc010plk.2_Missense_Mutation_p.L238F|DCAF6_uc001gev.3_Missense_Mutation_p.L269F|DCAF6_uc001gey.3_Missense_Mutation_p.L122F	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	269					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCAAGAGATTCTCGTTAGTTA	0.408000														57			13		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47574946	47574946	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:47574946C>T	uc003gxk.1	+	17	3462	c.3298C>T	c.(3298-3300)Ctt>Ttt	p.L1100F	ATP10D_uc003gxl.1_Missense_Mutation_p.L348F	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1100					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAAGCTCCTTCTTGTCCATGG	0.443000														176			39		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102955354	102955354	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:102955354G>A	uc002tbu.1	+	2	390	c.119G>A	c.(118-120)gGa>gAa	p.G40E	IL1RL1_uc010ywa.2_Intron|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.G40E	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	40	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTAGACAAGGAAAACCTAGT	0.383000														86			6		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6167054	6167054	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:6167054T>C	uc001qnn.1	-	13	1940	c.1690A>G	c.(1690-1692)Aag>Gag	p.K564E	VWF_uc010set.1_Missense_Mutation_p.K564E	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	564	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGTGCTGCTTCTGCAGGTCC	0.657000														171			36		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43406446	43406446	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:43406446C>T	uc003ouy.1	+	7	2255	c.2040C>T	c.(2038-2040)atC>atT	p.I680I	ABCC10_uc003ouz.1_Silent_p.I652I|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	680	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TTGCCACCATCCGAGACAACA	0.597000														96			23		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176011587	176011587	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:176011587G>A	uc021yie.1	+	18	2579	c.2305G>A	c.(2305-2307)Gag>Aag	p.E769K	CDHR2_uc003mem.2_Missense_Mutation_p.E769K|CDHR2_uc003men.1_Missense_Mutation_p.E769K	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	769	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.E769E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCTGGATTACGAGACACAGCC	0.602000														86			9		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130293212	130293212	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:130293212C>T	uc010htl.3	+	6	3421	c.3390C>T	c.(3388-3390)atC>atT	p.I1130I		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1130	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.I1130I(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACAGAGGTATCGACATCTACT	0.552000														63			14		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630382	74630382	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:74630382G>A	uc002axt.2	-	8	1652	c.1497C>T	c.(1495-1497)ctC>ctT	p.L499L	CYP11A1_uc002axs.2_Silent_p.L341L|CYP11A1_uc010bjm.1_Silent_p.L341L|CYP11A1_uc010bjn.1_Non-coding_Transcript	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	499					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCATCAGAATGAGGTTGAATG	0.532000														103			14		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121358740	121358740	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:121358740G>A	uc001pxx.3	+	4	658	c.529_splice	c.e4-1	p.Y177_splice		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	177					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCCCTTGCAGTACATCTTTG	0.522000														492			67		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679405	100679405	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:100679405G>A	uc003uxp.1	+	2	4761	c.4708G>A	c.(4708-4710)Gaa>Aaa	p.E1570K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1570	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTTATAGTGAAGGAAGCAC	0.483000														365			76		0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75290531	75290531	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:75290531G>A	uc001juo.3	-	10	1395	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Missense_Mutation_p.R460C|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Missense_Mutation_p.R460C	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	460					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CTCCTCTTGCGCTCTATCAGT	0.502000														90			9		0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57147363	57147363	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:57147363C>T	uc010cct.2	+	3	769	c.422C>T	c.(421-423)tCc>tTc	p.S141F	CPNE2_uc002eks.2_Missense_Mutation_p.S115F|CPNE2_uc010ccu.2_Missense_Mutation_p.S115F	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	Homo sapiens copine II (CPNE2), mRNA.	115	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GGCCAGTTCTCCTGCAGCCTG	0.597000														31			13		0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111413475	111413475	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:111413475C>T	uc002tgc.3	-	15	1829	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	BUB1_uc010yxh.2_Missense_Mutation_p.E553K|BUB1_uc010fkb.3_Missense_Mutation_p.E573K	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	573					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AAAAACTCTTCAGCATGAGGC	0.428000														166			21		0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438694	58438694	+	Silent	SNP	A	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:58438694A>T	uc002qqs.1	-	3	1147	c.855T>A	c.(853-855)ccT>ccA	p.P285P	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Silent_p.P200P	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P285P(2)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CACATTCATAAGGTCTTTTCC	0.433000														186			21		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90106986	90106986	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:90106986C>T	uc003kju.3	+	73	16005	c.15909C>T	c.(15907-15909)ttC>ttT	p.F5303F	GPR98_uc003kjt.3_Silent_p.F3009F|GPR98_uc003kjw.3_Silent_p.F964F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5303	Calx-beta 34.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.F5303F(2)		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)		CCCTTATATTCCTAGATGGAG	0.408000														24			5		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124979357	124979357	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:124979357A>C	uc010flu.3	+	1	522	c.158A>C	c.(157-159)cAc>cCc	p.H53P	CNTNAP5_uc002tno.3_Missense_Mutation_p.H53P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	53	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACTGGCACTCACAGCCCAGCT	0.478000														25			3		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103343610	103343610	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:103343610C>T	uc001dum.3	-	66	5740	c.5422G>A	c.(5422-5424)Gga>Aga	p.G1808R	COL11A1_uc001duk.3_Missense_Mutation_p.G992R|COL11A1_uc001dul.3_Missense_Mutation_p.G1796R|COL11A1_uc001dun.3_Missense_Mutation_p.G1757R|COL11A1_uc009weh.3_Missense_Mutation_p.G1680R	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1796					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.F1807F(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACTTCAAATCCGAACTTCTGA	0.348000														89			10		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45823576	45823576	+	Splice_Site	SNP	G	A	A	rs141869919	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:45823576G>A	uc011bai.2	-	2	386	c.262_splice	c.e2+1	p.G88_splice	SLC6A20_uc011baj.2_Splice_Site_p.G88_splice	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	88					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCCACGTACCGACACCACTGA	0.662000														14			5		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185878571	185878571	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:185878571C>T	uc001grq.1	+	4	953	c.724C>T	c.(724-726)Ccc>Tcc	p.P242S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	242					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCTTTTGATCCCAGCCTGAA	0.388000														72			13		0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89732029	89732029	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:89732029G>A	uc001dnc.3	-	7	1405	c.868_splice	c.e7+1	p.R290_splice	GBP5_uc001dnd.3_Splice_Site_p.R290_splice|GBP5_uc001dne.1_Splice_Site_p.R290_splice	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	290						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TAATACTCACGAGATCCATTG	0.358000														36			10		0	0	1	0	0
C17orf56	146705	broad.mit.edu	37	17	79205669	79205669	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:79205669C>T	uc002jzu.2	-	7	737	c.679G>A	c.(679-681)Gag>Aag	p.E227K	C17orf56_uc002jzr.2_5'Flank|C17orf56_uc002jzs.2_Missense_Mutation_p.E143K|C17orf56_uc002jzt.2_Missense_Mutation_p.E143K|C17orf56_uc002jzv.2_Missense_Mutation_p.E75K|AL832593_uc002jzw.1_Non-coding_Transcript	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA.	227						integral to membrane				endometrium(1)|kidney(1)|lung(5)|prostate(1)|skin(3)	11	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCACCCGGCTCCCGGCTGGCC	0.662000														116			7		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120185	38120185	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:38120185C>T	uc003atr.3	+	6	1893	c.1622C>T	c.(1621-1623)cCc>cTc	p.P541L	TRIOBP_uc003atu.3_Missense_Mutation_p.P369L|TRIOBP_uc003atq.1_Missense_Mutation_p.P541L|TRIOBP_uc003ats.1_Missense_Mutation_p.P369L	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	541					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCTCCTCTCCCAATAGAGCT	0.587000														258			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583665	179583665	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179583665C>T	uc021vsy.1	-	80	20755	c.20530G>A	c.(20530-20532)Gaa>Aaa	p.E6844K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3505K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7771	Ig-like 50.						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)			GGCAAAACTTCCACAGAATCA	0.473000														17			3		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95892047	95892047	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:95892047C>G	uc001kjk.3	+	2	1957	c.1323C>G	c.(1321-1323)tgC>tgG	p.C441W	PLCE1_uc010qnx.2_Missense_Mutation_p.C441W|PLCE1_uc001kjm.3_Missense_Mutation_p.C133W	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	441					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTGGTCCATGCTTAAAGCAAT	0.488000														121			24		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720650	140720650	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140720650C>T	uc003ljk.2	+	0	2297	c.2112C>T	c.(2110-2112)ttC>ttT	p.F704F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Silent_p.F704F|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	705					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCGTCTTCCTGGCCTTCG	0.657000														179			20		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581022	234581022	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:234581022G>A	uc002vus.3	+	0	479	c.442G>A	c.(442-444)Gat>Aat	p.D148N	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.D148N	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	151					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	p.D148N(1)		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)	AGTGTTTCTCGATCCTTTTGA	0.373000														106			9		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171546720	171546720	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:171546720C>T	uc010pmg.2	+	25	7363	c.7097C>T	c.(7096-7098)tCc>tTc	p.S2366F	PRRC2C_uc010pmh.2_Missense_Mutation_p.S1278F|PRRC2C_uc010pmi.2_Missense_Mutation_p.S203F|PRRC2C_uc010pmj.2_5'Flank	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2366	Gln-rich.						protein C-terminus binding										TGTATGCCTTCCCTTATTGCC	0.413000														46			6		0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105927123	105927123	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:105927123C>T	uc001yqx.3	+	9	962	c.775C>T	c.(775-777)Cac>Tac	p.H259Y	MTA1_uc001yqy.3_Missense_Mutation_p.H259Y|MTA1_uc021seq.1_Missense_Mutation_p.H259Y|MTA1_uc001yqz.1_Missense_Mutation_p.H173Y|MTA1_uc001yra.1_Missense_Mutation_p.H173Y|MTA1_uc001yrb.3_Missense_Mutation_p.H20Y	NM_004689	NP_004680	Q13330	MTA1_HUMAN	Homo sapiens metastasis associated 1 (MTA1), transcript variant 1, mRNA.	259	ELM2.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GGATACTCTCCACAAGAACAT	0.627000														27			7		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620811	7620811	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:7620811C>T	uc003bqm.2	+	7	2492	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.P740S|GRM7_uc003bql.2_Missense_Mutation_p.P740S|GRM7_uc003bqn.1_Missense_Mutation_p.P323S|GRM7_uc010hch.1_Missense_Mutation_p.P251S	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	740					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GACAATGAACCCTGAGCAAGC	0.418000														95			30		0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44056253	44056253	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:44056253G>A	uc002owt.2	-	8	1118	c.998C>T	c.(997-999)cCc>cTc	p.P333L	XRCC1_uc010xwp.1_Missense_Mutation_p.P302L	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	333	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GGAGCGGAAGGGGTTCTGGAA	0.647000								Other BER factors						81			21		0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71275406	71275406	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:71275406C>T	uc003twb.4	-	5	964	c.573G>A	c.(571-573)acG>acA	p.T191T	CALN1_uc003twa.4_Silent_p.T149T|CALN1_uc003twc.4_Silent_p.T149T	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	149						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.T149T(1)|p.R190Q(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGTCCTTCATCGTTAGGTGGT	0.463000														113			24		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227919415	227919415	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:227919415C>T	uc021vxr.1	-	29	2856	c.2755G>A	c.(2755-2757)Gaa>Aaa	p.E919K	COL4A4_uc021vxs.1_Missense_Mutation_p.E919K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	919	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTCCTCTTTCTCCGGGAAAA	0.517000														33			4		0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35864598	35864598	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:35864598C>T	uc001byt.3	+	21	3467	c.3387C>T	c.(3385-3387)ttC>ttT	p.F1129F	ZMYM4_uc009vuu.3_Silent_p.F1097F|ZMYM4_uc001byu.3_Silent_p.F805F|ZMYM4_uc009vuv.3_Silent_p.F868F	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	1129					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAAGCAGTTCTCAAAAGGGG	0.428000														62			10		0	0	1	0	0
COX7B2	170712	broad.mit.edu	37	4	46737025	46737025	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:46737025C>T	uc003gxf.3	-	2	365	c.185G>A	c.(184-186)gGa>gAa	p.G62E	COX7B2_uc010ige.3_Non-coding_Transcript|COX7B2_uc021xny.1_Missense_Mutation_p.G62E	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIb2 (COX7B2), mRNA.	62						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						CCATTCTATTCCAATCTGAGT	0.408000														89			19		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133802642	133802642	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:133802642G>A	uc011ecs.2	+	11	1346	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	EYA4_uc011ecq.2_Missense_Mutation_p.D284N|EYA4_uc011ecr.2_Missense_Mutation_p.D290N|EYA4_uc003qec.4_Missense_Mutation_p.D338N|EYA4_uc003qed.4_Missense_Mutation_p.D338N|EYA4_uc003qee.4_Missense_Mutation_p.D315N|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	338					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACCCATCAAAGATCTTGATGA	0.458000														131			43		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229628	39229628	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:39229628C>T	uc003cjk.2	-	1	1538	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N	XIRP1_uc003cji.3_Missense_Mutation_p.D437N|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.D437N	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	437							actin binding	p.G436A(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTCTTCACATCCCCCTTTAGC	0.557000														290			51		0	0	1	0	0
TEFM	79736	broad.mit.edu	37	17	29226332	29226332	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:29226332G>A	uc002hfu.2	-	3	1008	c.938C>T	c.(937-939)cCt>cTt	p.P313L	TEFM_uc002hfv.2_Non-coding_Transcript	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	Homo sapiens transcription elongation factor, mitochondrial (TEFM), nuclear gene encoding mitochondrial protein, mRNA.	313					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										GAACACCCGAGGATCCGCCTT	0.403000														72			9		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10210316	10210316	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:10210316C>T	uc002gmk.1	-	35	5325	c.5235G>A	c.(5233-5235)gtG>gtA	p.V1745V		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1745					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.V1745V(3)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCGAGTTCTCCACCTCTGCCT	0.493000														46			8		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32205232	32205232	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:32205232G>A	uc001btn.3	-	14	2526	c.2172C>T	c.(2170-2172)atC>atT	p.I724I	BAI2_uc010ogn.2_5'Flank|BAI2_uc010ogo.2_Silent_p.I366I|BAI2_uc010ogp.2_Silent_p.I657I|BAI2_uc010ogq.2_Silent_p.I724I|BAI2_uc001bto.3_Silent_p.I724I|BAI2_uc001btp.1_5'Flank|BAI2_uc001btq.1_Silent_p.I657I|BAI2_uc010ogr.1_3'UTR	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	724					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCTGAATGCTGATCACTGCAG	0.607000														69			6		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740180	37740180	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:37740180C>T	uc004aag.1	+	14	1699	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L	FRMPD1_uc004aah.1_Missense_Mutation_p.S552L|FRMPD1_uc011lqm.2_Missense_Mutation_p.S374L|FRMPD1_uc011lqn.2_Missense_Mutation_p.S421L	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	552						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCCTGCAGATCACTCATAAAG	0.627000														53			12		0	0	1	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654785	161654785	+	RNA	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:161654785G>A	uc001gbc.3	-	0		c.258C>T								Homo sapiens ribosomal protein L31 pseudogene 11 (RPL31P11), non-coding RNA.																		CTTTGGCCCAGACAGCTTTGT	0.483000														22			5		0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113058942	113058942	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:113058942G>A	uc001ecb.3	+	2	1099	c.584G>A	c.(583-585)gGt>gAt	p.G195D	WNT2B_uc001eca.3_Missense_Mutation_p.G176D|WNT2B_uc009wgg.3_Missense_Mutation_p.G103D	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	195					Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCCACTACGGTGTCCGTTTT	0.577000														95			25		0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														5			2		0	0	1	0	0
TSC22D4	81628	broad.mit.edu	37	7	100074916	100074916	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:100074916G>A	uc003uva.3	-	1	1501	c.746C>T	c.(745-747)cCa>cTa	p.P249L	TSC22D4_uc011kjv.2_Missense_Mutation_p.P10L|TSC22D4_uc010lgx.3_Missense_Mutation_p.P249L|TSC22D4_uc003uvc.4_Missense_Mutation_p.P249L	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN	Homo sapiens TSC22 domain family, member 4 (TSC22D4), mRNA.	249					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATCTCTTCTGGAGCACCCAA	0.642000														132			26		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764158	184764158	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:184764158C>T	uc001gra.3	-	13	2934	c.2740G>A	c.(2740-2742)Gga>Aga	p.G914R	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	914					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCACCTTCTCCCTCCTTCACG	0.512000														204			45		0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16170557	16170557	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:16170557C>T	uc004cxj.3	+	2	1597	c.944C>T	c.(943-945)tCc>tTc	p.S315F		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	315					cell proliferation	integral to plasma membrane	bombesin receptor activity	p.S315Y(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TTCACCAACTCCTGCGTGAAC	0.562000														104			40		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542556	179542556	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179542556C>T	uc021vsy.1	-	142	30576	c.30351G>A	c.(30349-30351)gaG>gaA	p.E10117E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.E6778E|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11044	Glu-rich.						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)			GTAGAACTTCCTCTTCAGGAA	0.428000														108			12		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117304901	117304901	+	Missense_Mutation	SNP	C	T	T	rs146947665	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:117304901C>T	uc003vjd.3	+	24	4255	c.4123C>T	c.(4123-4125)Cat>Tat	p.H1375Y	CFTR_uc011knq.2_Missense_Mutation_p.H781Y	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1375	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ACCCAGTGCTCATTTGGATCC	0.458000									Cystic Fibrosis					181			34		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25370322	25370322	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:25370322T>A	uc001upr.3	+	10	1329	c.1288T>A	c.(1288-1290)Ttc>Atc	p.F430I	RNF17_uc010tdd.1_Missense_Mutation_p.F289I|RNF17_uc010tde.2_Missense_Mutation_p.F430I|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.F369I|RNF17_uc001upq.1_3'UTR	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	430					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCCTTGCCATTTCTACATTCG	0.348000														71			10		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75042615	75042615	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:75042615C>T	uc001dgg.3	-	12	2401	c.2182G>A	c.(2182-2184)Gat>Aat	p.D728N	CR627203_uc001dgh.3_5'Flank	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	728	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGCAATGAATCCTTTCCTAGT	0.388000														32			7		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200113	155200113	+	Silent	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:155200113A>G	uc021xge.1	-	22	4003	c.3726T>C	c.(3724-3726)ttT>ttC	p.F1242F	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.F1204F	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1242					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)			TTCCCTTGCAAAAACCATGCT	0.473000														66			11		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8825245	8825245	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:8825245C>T	uc002knr.2	+	14	3879	c.3737C>T	c.(3736-3738)tCc>tTc	p.S1246F	SOGA2_uc002knq.2_Missense_Mutation_p.S1205F|SOGA2_uc002kns.2_Missense_Mutation_p.S586F	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1556																	CCCAGGCACTCCCGGGACTAT	0.652000														23			9		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73537628	73537628	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:73537628C>T	uc001jrx.4	+	36	5418	c.5028C>T	c.(5026-5028)atC>atT	p.I1676I		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1679	Cadherin 16.				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						CAGGCAACATCGTCAACACCT	0.572000														46			10		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141724851	141724851	+	Splice_Site	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:141724851A>G	uc003vwy.3	+	8	937	c.883_splice	c.e8-1	p.N295_splice		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	295	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTCTGCAGAACGGAACTAAT	0.403000														47			10		0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61249316	61249316	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:61249316C>T	uc001nru.2	+	1	167	c.35C>T	c.(34-36)cCt>cTt	p.P12L	PPP1R32_uc009ynq.2_Missense_Mutation_p.P12L	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	12																	GTCGTCTCCCCTTATGTGAAG	0.632000														35			6		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131984449	131984449	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:131984449G>A	uc002tsn.2	+	3	916	c.864G>A	c.(862-864)gtG>gtA	p.V288V	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	288							ATP binding										AGCAAGTCGTGAAATTTTTAA	0.338000														184			7		0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110259097	110259097	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:110259097C>T	uc010ywt.1	+	9	2498	c.2498C>T	c.(2497-2499)tCg>tTg	p.S833L		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	833	SH3 4.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GTGGTGGTCTCGTACCCACCC	0.587000														20			5		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201521584	201521584	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:201521584T>C	uc002uvx.3	+	26	3196	c.3095T>C	c.(3094-3096)aTt>aCt	p.I1032T	AOX1_uc010zhf.2_Missense_Mutation_p.I588T|AOX1_uc010fsu.3_Missense_Mutation_p.I398T	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1032					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGGTTCACATTTATCTTGAT	0.408000														76			11		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059501	248059501	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:248059501G>A	uc010pzb.2	+	0	613	c.613G>A	c.(613-615)Ggt>Agt	p.G205S	OR2W3_uc001idp.1_Missense_Mutation_p.G205S	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTGGCGGTGGGTGTTGTGCT	0.577000														174			53		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423515	56423515	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:56423515G>A	uc010ygg.2	-	4	1693	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	556	NACHT.						ATP binding	p.E555K(1)		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)		AATGGGGAGGGAATTCTCTAG	0.458000														106			21		0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7010600	7010600	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:7010600G>A	uc002gep.3	-	5	728	c.461C>T	c.(460-462)cCc>cTc	p.P154L	ASGR2_uc002gen.1_Missense_Mutation_p.P135L|ASGR2_uc002geo.2_Missense_Mutation_p.P149L|ASGR2_uc002geq.3_Missense_Mutation_p.P130L|ASGR2_uc002ger.3_Missense_Mutation_p.P154L	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	154					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	CAGGTCCACGGGGAAGTGCTT	0.652000														49			6		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325207	31325207	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:31325207C>T	uc010dmg.1	+	11	5450	c.5395C>T	c.(5395-5397)Ccg>Tcg	p.P1799S	ASXL3_uc002kxq.2_Missense_Mutation_p.P1506S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1799					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						CGTTGAAATTCCGCCCAGCTC	0.498000														93			25		0	0	1	0	0
STS	412	broad.mit.edu	37	X	7175566	7175566	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:7175566C>T	uc004cry.4	+	3	579	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	112					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	GGGAGGACTTCCCACCGATGA	0.473000									Ichthyosis					40			17		0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38117619	38117619	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:38117619C>T	uc003xlc.3	+	16	2316	c.2116C>T	c.(2116-2118)Ctt>Ttt	p.L706F	DDHD2_uc003xlb.3_Missense_Mutation_p.L706F|DDHD2_uc003xld.3_Missense_Mutation_p.L325F	NM_001164232	NP_056029	O94830	DDHD2_HUMAN	Homo sapiens DDHD domain containing 2 (DDHD2), transcript variant 2, mRNA.	706					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GGGTATCTTCCTTGATCAGCC	0.328000														96			21		0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234345049	234345049	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:234345049C>G	uc002vui.1	+	6	793	c.781C>G	c.(781-783)Cgc>Ggc	p.R261G	DGKD_uc002vuj.1_Missense_Mutation_p.R217G|DGKD_uc010fyh.1_Missense_Mutation_p.R128G|DGKD_uc010fyi.1_5'Flank|DGKD_uc002vuk.1_Missense_Mutation_p.R128G	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	261					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CAGTGTGCTGCGCCTGCAGGA	0.637000														48			8		0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8758052	8758052	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:8758052G>A	uc001qur.2	-	2	265	c.186C>T	c.(184-186)ctC>ctT	p.L62L	AICDA_uc001qup.1_Silent_p.L57L|AICDA_uc001quq.1_Silent_p.L57L|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	62					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AGATGTAGCGGAGGAAGAGCA	0.577000														87			17		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75301980	75301980	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:75301980G>A	uc001xqj.4	+	19	6431	c.6307G>A	c.(6307-6309)Gac>Aac	p.D2103N	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1908					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAGATGGGCAGACCTGGAAGA	0.468000														56			11		0	0	1	0	0
IL15	3600	broad.mit.edu	37	4	142640628	142640628	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:142640628C>T	uc003iis.3	+	3	386	c.12_splice	c.e3+1	p.S4_splice	IL15_uc010iol.3_Splice_Site|IL15_uc003iit.3_Splice_Site_p.S4_splice	NM_000585	NP_000576	P40933	IL15_HUMAN	Homo sapiens interleukin 15 (IL15), transcript variant 3, mRNA.	4					cell-cell signaling|immune response|positive regulation of interleukin-17 production	Golgi apparatus|endosome|extracellular space|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					ATGAGAATTTCGGTAAGAAAA	0.393000														30			10		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152771891	152771891	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:152771891G>A	uc021zhb.1	-	24	3487	c.3264C>T	c.(3262-3264)ctC>ctT	p.L1088L	SYNE1_uc003qot.4_Silent_p.L1095L|SYNE1_uc003qou.4_Silent_p.L1088L|SYNE1_uc010kjb.1_Silent_p.L1071L|SYNE1_uc003qow.3_Silent_p.L383L|SYNE1_uc003qox.1_Silent_p.L604L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1088					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCGCACTGGGAGTTTCACAC	0.468000										HNSCC(10;0.0054)				152			44		0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736351	24736351	+	RNA	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:24736351G>A	uc001rgb.1	-	0		c.752C>T								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		GGGGCACGTAGAACCTGAGAC	0.557000														22			6		0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5920144	5920144	+	Nonsense_Mutation	SNP	A	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:5920144A>C	uc003zjq.4	-	7	6068	c.5852T>G	c.(5851-5853)tTa>tGa	p.L1951*	KIAA2026_uc010mht.3_Nonsense_Mutation_p.L1126*	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	1951										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGGCCACTTAAGGAATTATT	0.398000														69			30		0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7324240	7324240	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:7324240C>T	uc002ggv.3	+	2	271	c.246C>T	c.(244-246)ccC>ccT	p.P82P	SPEM1_uc010vtw.1_Intron	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	Homo sapiens spermatid maturation 1 (SPEM1), mRNA.	82					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				AGACCCAGCCCCCTAAGAAGC	0.597000														121			20		0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43647320	43647320	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:43647320C>T	uc003cmv.3	-	1	196	c.25G>A	c.(25-27)Gat>Aat	p.D9N	ANO10_uc011azs.2_Missense_Mutation_p.D9N|ANO10_uc003cmw.3_Missense_Mutation_p.D9N|ANO10_uc010hil.3_Missense_Mutation_p.D9N|ANO10_uc011azt.2_Missense_Mutation_p.D9N	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.	9					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TCAGAAGTATCCAAAGCTGAT	0.348000														41			10		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57358037	57358037	+	Missense_Mutation	SNP	C	T	T	rs146401083	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:57358037C>T	uc004dvc.3	+	3	568	c.419C>T	c.(418-420)cCc>cTc	p.P140L		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	140						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TTAGGAATGCCCAATTCTTCT	0.423000										HNSCC(52;0.14)				31			13		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210559080	210559080	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:210559080C>T	uc002vde.1	+	6	2434	c.2186C>T	c.(2185-2187)tCc>tTc	p.S729F	MAP2_uc002vdc.1_Missense_Mutation_p.S729F|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.S725F	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	729					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.S729S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCTCTGGCTTCCGATATTCTA	0.468000														168			20		0	0	1	0	0
FAM58BP	339521	broad.mit.edu	37	1	200183024	200183024	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:200183024C>T	uc009wzi.1	+	0	369	c.333C>T	c.(331-333)ccC>ccT	p.P111P		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	111					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						GCAGTGAGCCCCTGGGATTGG	0.567000														110			26		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404357	197404357	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:197404357G>A	uc001gtz.3	+	8	3573	c.3364G>A	c.(3364-3366)Gaa>Aaa	p.E1122K	CRB1_uc010poz.2_Missense_Mutation_p.E1098K|CRB1_uc009wza.3_Missense_Mutation_p.E1010K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.E603K|CRB1_uc001gub.1_Missense_Mutation_p.E771K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1122	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.Q1121_E1122>H*(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAAACCTCAGGAAGAGCAATT	0.398000														95			17		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74285296	74285296	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:74285296C>T	uc003hgs.4	+	12	1798	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	ALB_uc011cbe.2_Silent_p.F254F|ALB_uc003hgw.4_Silent_p.F383F|ALB_uc011cbf.2_Silent_p.F465F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	575	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGGATGATTTCGCAGCTTTTG	0.413000														67			17		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120745847	120745847	+	Splice_Site	SNP	G	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:120745847G>T	uc001pxn.2	+	11	1347	c.1060_splice	c.e11-1	p.V354_splice	GRIK4_uc009zav.1_Splice_Site_p.V354_splice|GRIK4_uc009zaw.1_Splice_Site_p.V354_splice|GRIK4_uc009zax.1_Splice_Site_p.V354_splice	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	354					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTCTTGGACAGGTAGAATTGG	0.468000														51			12		0.00185496	0.00186588	1	1	0
COL1A2	1278	broad.mit.edu	37	7	94044561	94044562	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:94044561_94044562CC>TT	uc003ung.1	+	29	2214_2215	c.1743_1744CC>TT	c.(1741-1746)ctccct>ctTTct	p.P582S	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_5'Flank	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	582					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGTTTGGTCTCCCTGGTCCTGC	0.361000										HNSCC(75;0.22)				173			36		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169505801	169505801	+	Silent	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:169505801T>C	uc001ggg.1	-	13	5059	c.4914A>G	c.(4912-4914)gaA>gaG	p.E1638E		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1638	F5/8 type A 3.|Plastocyanin-like 5.				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)	CGAGATGCTCTTCATACTCCC	0.408000														69			14		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187656	152187656	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:152187656C>T	uc001ezt.1	-	2	6525	c.6449G>A	c.(6448-6450)gGa>gAa	p.G2150E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2150					keratinization		calcium ion binding|protein binding	p.G2150*(1)		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)			TGAGCTAGATCCGTGTCGTTC	0.582000														692			13		0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166451662	166451662	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:166451662C>T	uc002udf.3	+	3	463	c.87C>T	c.(85-87)tcC>tcT	p.S29S	CSRNP3_uc002udg.3_Silent_p.S29S	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	29	Ser-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ATGAAGTTTCCAGCAGTGAAA	0.463000														108			22		0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59067406	59067406	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:59067406C>T	uc002iyv.4	+	14	1405	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	BCAS3_uc010wow.1_Silent_p.F219F|BCAS3_uc002iyu.4_Silent_p.F432F|BCAS3_uc002iyw.4_Silent_p.F428F|BCAS3_uc002iyx.1_Silent_p.F247F|BCAS3_uc002iyy.4_Silent_p.F203F|BCAS3_uc002iyz.4_5'UTR|BCAS3_uc002iza.4_5'UTR	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	432						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCCACGTTTTCCCCATCAACC	0.493000														73			20		0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46313413	46313413	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:46313413C>T	uc002rut.3	+	10	1701	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	502	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	p.R502*(4)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			TCAGCGCTCCCGAAAATTCGA	0.493000														79			7		0	0	1	0	0
VSNL1	7447	broad.mit.edu	37	2	17773481	17773481	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:17773481A>T	uc002rcm.3	+	1	524	c.140A>T	c.(139-141)gAa>gTa	p.E47V		NM_003385	NP_003376	P62760	VISL1_HUMAN	Homo sapiens visinin-like 1 (VSNL1), mRNA.	47	EF-hand 1.						calcium ion binding	p.E46Q(1)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATCTCGAGGAATTTCAGCAG	0.428000														149			18		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5186263	5186263	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:5186263G>A	uc003jdl.3	+	4	1000	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	ADAMTS16_uc003jdk.1_Missense_Mutation_p.E288K|ADAMTS16_uc003jdj.1_Missense_Mutation_p.E288K	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	288					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCATAGAAATGAAGAACTGAA	0.473000														67			6		0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013407	149013407	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:149013407C>T	uc022cgq.1	+	0	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	MAGEA8_uc022cgo.1_Missense_Mutation_p.R121C|MAGEA8_uc004fdw.2_Missense_Mutation_p.R121C|MAGEA8_uc022cgp.1_Missense_Mutation_p.R121C	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	121	MAGE.		R -> H (in dbSNP:rs35744768).					p.R121C(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTTAGTTCGTTTCCTGCT	0.493000														61			24		0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60707011	60707011	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:60707011C>T	uc001nqn.2	-	5	1610	c.1376G>A	c.(1375-1377)tGg>tAg	p.W459*	SLC15A3_uc001nqo.2_Missense_Mutation_p.G403S	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	459					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GATCTGCCACCAGATGGACAG	0.587000														40			13		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2063806	2063806	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:2063806C>T	uc003wpx.4	+	25	3373	c.3235C>T	c.(3235-3237)Cga>Tga	p.R1079*	MYOM2_uc011kwi.2_Nonsense_Mutation_p.R504*	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1079					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)		GGTGATGGATCGATTTAGTAT	0.378000														100			22		0	0	1	0	0
CBX5	23468	broad.mit.edu	37	12	54651414	54651414	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:54651414C>T	uc001sfh.4	-	1	339	c.21G>A	c.(19-21)cgG>cgA	p.R7R	CBX5_uc001sfk.4_Silent_p.R7R|CBX5_uc001sfj.4_Silent_p.R7R	NM_001127322	NP_036249	P45973	CBX5_HUMAN	Homo sapiens chromobox homolog 5 (CBX5), transcript variant 1, mRNA.	7					blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TGTCAGCTGTCCGCTTGGTTT	0.493000														98			25		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173596204	173596204	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:173596204C>T	uc001gja.1	-	4	652	c.591_splice	c.e4+1	p.K197_splice		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	213										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						AATACAGTACCTTGTCTTCCT	0.358000														93			24		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51857446	51857446	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:51857446G>A	uc001rys.1	+	10	1475	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K	SLC4A8_uc010sni.2_Missense_Mutation_p.E380K|SLC4A8_uc001rym.3_Missense_Mutation_p.E380K|SLC4A8_uc001ryn.3_Missense_Mutation_p.E380K|SLC4A8_uc001ryo.2_Missense_Mutation_p.E380K|SLC4A8_uc010snj.2_Missense_Mutation_p.E460K|SLC4A8_uc001ryq.4_Missense_Mutation_p.E433K|SLC4A8_uc001ryr.3_Missense_Mutation_p.E433K|SLC4A8_uc010snk.2_Missense_Mutation_p.E380K	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	433					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTGCCACATAGAACAGGAACC	0.458000														75			11		0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011438	138011438	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:138011438C>T	uc010nar.3	+	5	891	c.872C>T	c.(871-873)tCc>tTc	p.S291F	OLFM1_uc004cfl.4_Missense_Mutation_p.S273F|OLFM1_uc004cfn.4_Missense_Mutation_p.S42F	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	291	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		AATTTCACCTCCCACCGTCTC	0.532000														83			30		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23909470	23909470	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:23909470G>A	uc001uon.2	-	9	9134	c.8545C>T	c.(8545-8547)Cca>Tca	p.P2849S	SACS_uc001uoo.2_Missense_Mutation_p.P2702S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2849					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCACCACGTGGGAAAAGAGTA	0.408000														57			7		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7470725	7470725	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:7470725G>A	uc001qsx.1	+	4	868	c.868G>A	c.(868-870)Gcc>Acc	p.A290T		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	290					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GCTGTGTGGAGCCTGTGTTTT	0.478000														82			12		0	0	1	0	0
FAM8A1	51439	broad.mit.edu	37	6	17608469	17608469	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:17608469T>G	uc003ncc.3	+	4	1264	c.1141T>G	c.(1141-1143)Ttt>Gtt	p.F381V		NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	Homo sapiens family with sequence similarity 8, member A1 (FAM8A1), mRNA.	381	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			AATTGCTTCTTTTTTCCCTGC	0.348000														154			10		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272677	52272677	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:52272677C>T	uc002pxr.3	+	1	811	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	FPR2_uc002pxs.4_Missense_Mutation_p.P256S|FPR2_uc010epf.3_Missense_Mutation_p.P256S|FPR2_uc021uyp.1_Missense_Mutation_p.P256S	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	256					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.P256S(2)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTGTTGGTTTCCCTTTCAACT	0.488000														36			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542492	179542492	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179542492C>T	uc021vsy.1	-	142	30640	c.30415G>A	c.(30415-30417)Gaa>Aaa	p.E10139K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6800K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11066	Glu-rich.						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)			GGTAGAACTTCCTCTTCTTCA	0.423000														114			14		0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88478395	88478395	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:88478395C>T	uc002ssy.4	+	3	2356	c.665C>T	c.(664-666)tCg>tTg	p.S222L	THNSL2_uc002ssw.4_Missense_Mutation_p.S222L|THNSL2_uc002sta.4_Missense_Mutation_p.S64L|THNSL2_uc010fhe.3_Missense_Mutation_p.S64L|THNSL2_uc021vkr.1_Missense_Mutation_p.S222L	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	222					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGCCTGAATTCGATCAACTGG	0.537000														270			31		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101720364	101720364	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:101720364G>A	uc001vox.1	-	38	4541	c.4352C>T	c.(4351-4353)tCc>tTc	p.S1451F		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1451						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.S1451F(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATAAAACAAGGAGAAATTCTC	0.318000														35			6		0	0	1	0	0
GTPBP10	85865	broad.mit.edu	37	7	90014223	90014223	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:90014223G>A	uc003ukm.2	+	9	996	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	GTPBP10_uc003ukn.2_Missense_Mutation_p.E228K|GTPBP10_uc003uko.2_Missense_Mutation_p.E117K|CLDN12_uc003ukp.3_5'UTR|CLDN12_uc003ukq.3_5'UTR	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	Homo sapiens GTP-binding protein 10 (putative) (GTPBP10), transcript variant 2, mRNA.	307					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						GCATTTATTTGAAAAAAACAT	0.328000														48			9		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93636491	93636491	+	Silent	SNP	C	T	T	rs146732805		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:93636491C>T	uc004aqz.3	+	7	1126	c.921C>T	c.(919-921)tcC>tcT	p.S307S	SYK_uc004ara.3_Silent_p.S284S|SYK_uc004arb.3_Silent_p.S284S|SYK_uc004arc.3_Silent_p.S307S|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	307	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TTTAGTCCTCCCCTGCCCAAG	0.413000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									52			9		0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66207884	66207884	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:66207884C>A	uc002apm.2	-	18	2538	c.2397G>T	c.(2395-2397)atG>atT	p.M799I	MEGF11_uc002apl.2_Missense_Mutation_p.M724I|MEGF11_uc002apn.1_Missense_Mutation_p.M799I	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	799	EGF-like 14.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGGAGTTGTTCATGCACTCAC	0.552000														37			4		1	1	1	1	0
ATP5J	522	broad.mit.edu	37	21	27097555	27097555	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:27097555G>A	uc002ylv.3	-	2	994	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	ATP5J_uc002ylw.3_Missense_Mutation_p.P91S|ATP5J_uc002yls.3_Missense_Mutation_p.P91S|ATP5J_uc002ylt.3_Missense_Mutation_p.P91S|ATP5J_uc002ylu.3_Missense_Mutation_p.P91S	NM_001003701	NP_001676	P18859	ATP5J_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 (ATP5J), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	91					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity			cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						TTGAAGGTGGGAAATGTATTC	0.388000														77			11		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185906104	185906104	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:185906104G>A	uc003fqa.3	-	21	2519	c.1982C>T	c.(1981-1983)cCc>cTc	p.P661L	DGKG_uc003fqb.3_Missense_Mutation_p.P622L|DGKG_uc003fqc.3_Missense_Mutation_p.P636L|DGKG_uc011brx.2_Missense_Mutation_p.P602L	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	661					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GTACATGCTGGGAATGTTGAG	0.527000														84			15		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775665	77775665	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:77775665G>A	uc003yau.2	+	10	10102	c.9715G>A	c.(9715-9717)Gat>Aat	p.D3239N		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3190						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P3238Q(1)		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)			AACACATGTCGATCCTATTCA	0.448000										HNSCC(33;0.089)				130			25		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489289	42489289	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:42489289G>A	uc002osh.3	-	7	928	c.774C>T	c.(772-774)ggC>ggT	p.G258G	ATP1A3_uc010xwf.2_Silent_p.G269G|ATP1A3_uc010xwg.2_Silent_p.G228G|ATP1A3_uc002osg.3_Silent_p.G258G|ATP1A3_uc010xwh.2_Silent_p.G271G			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	258					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	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						TGGCGATACGGCCCATGACAG	0.667000														37			7		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080544	54080544	+	Missense_Mutation	SNP	G	A	A	rs143007880		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:54080544G>A	uc002qbx.1	+	6	2164	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	ZNF331_uc002qby.1_Missense_Mutation_p.E244K|ZNF331_uc002qbz.1_Missense_Mutation_p.E244K|ZNF331_uc010eqr.1_Missense_Mutation_p.E244K|ZNF331_uc002qca.1_Missense_Mutation_p.E244K|ZNF331_uc021uzg.1_Missense_Mutation_p.E244K|ZNF331_uc021uzh.1_Missense_Mutation_p.E244K|ZNF331_uc002qcb.1_Missense_Mutation_p.E244K|ZNF331_uc002qcc.1_Missense_Mutation_p.E244K|ZNF331_uc002qcd.1_Missense_Mutation_p.E244K	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GAAAGACTACGAATGCAAAGA	0.463000			T	?	follicular thyroid adenoma									75			15		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	75986677	75986677	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:75986677G>A	uc021xat.1	+	0	33	c.33G>A	c.(31-33)agG>agA	p.R11R		NM_001128929	NP_001122401	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 1, mRNA.	0					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCACTAGAAGGATGTGGACAT	0.443000														30			3		0	0	1	0	0
ZNHIT1	10467	broad.mit.edu	37	7	100865994	100865994	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:100865994C>T	uc003uye.3	+	1	624	c.132C>T	c.(130-132)ccC>ccT	p.P44P	ZNHIT1_uc003uyf.3_Non-coding_Transcript	NM_006349	NP_006340	O43257	ZNHI1_HUMAN	Homo sapiens zinc finger, HIT-type containing 1 (ZNHIT1), mRNA.	44							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					AGGATGACCCCCACGCGGGAC	0.667000														114			16		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647845	121647845	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:121647845C>T	uc003eep.2	+	15	1511	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	SLC15A2_uc011bjn.1_Missense_Mutation_p.S422F	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	453					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CCACACTATTCCAAACTGCAC	0.403000														121			20		0	0	1	0	0
BC070322	0	broad.mit.edu	37	9	69634677	69634677	+	RNA	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:69634677C>T	uc004afu.3	-	2		c.394G>A								Homo sapiens aquaporin 7 pseudogene 2, mRNA (cDNA clone IMAGE:30406582).																		GGGGGCAGGTCCCGGGACGGA	0.567000														319			5		0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78156504	78156504	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:78156504C>T	uc002jxw.1	+	2	458	c.264C>T	c.(262-264)ttC>ttT	p.F88F	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Silent_p.F88F|CARD14_uc010wud.1_5'Flank	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	88	CARD.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCATCGCCTTCCTGGAGAGCC	0.582000														42			6		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90500779	90500779	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:90500779G>A	uc004app.4	+	3	1412	c.1377G>A	c.(1375-1377)agG>agA	p.R459R	FAM75E1_uc004apo.1_Silent_p.R271R	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	459						integral to membrane											GGGTTTCTAGGAACCCTTCCT	0.547000														213			45		0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132239014	132239014	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:132239014A>G	uc001uja.1	+	8	1564	c.1424A>G	c.(1423-1425)gAg>gGg	p.E475G	SFSWAP_uc010tbn.1_Missense_Mutation_p.E475G|SFSWAP_uc001ujb.1_Missense_Mutation_p.E268G|SFSWAP_uc001uiz.1_Missense_Mutation_p.E349G	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	475					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTGAAGTTCGAGACCAGTGTT	0.512000														49			16		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114680278	114680278	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:114680278A>G	uc021osa.1	-	2	988	c.910T>C	c.(910-912)Tat>Cat	p.Y304H	SYT6_uc021orz.1_Missense_Mutation_p.Y219H|SYT6_uc001eev.3_Missense_Mutation_p.Y219H	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	304	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTCCTCATAGGGCACAGGG	0.567000														55			3		0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111490906	111490906	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:111490906C>T	uc001eaa.3	-	3	2241	c.1985G>A	c.(1984-1986)gGt>gAt	p.G662D	LRIF1_uc001dzz.3_Missense_Mutation_p.G126D|LRIF1_uc001eab.3_Missense_Mutation_p.G126D	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GAGTTGGGAACCGGTGACATT	0.368000														114			22		0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74651883	74651883	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:74651883G>A	uc009yub.3	-	2	373	c.41C>T	c.(40-42)cCt>cTt	p.P14L	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovo.3_Intron|XRRA1_uc001ovp.4_Intron|XRRA1_uc001ovq.4_Missense_Mutation_p.P14L|XRRA1_uc001ovr.2_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.	14					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GTTCAGGTAAGGCTTCCCATC	0.517000														14			8		0	0	1	0	0
STXBP6	29091	broad.mit.edu	37	14	25281928	25281928	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:25281928T>C	uc001wpu.3	-	5	1335	c.620A>G	c.(619-621)aAg>aGg	p.K207R	STXBP6_uc001wpv.3_Missense_Mutation_p.K207R|STXBP6_uc001wpw.3_Missense_Mutation_p.K207R|STXBP6_uc001wpt.3_Missense_Mutation_p.K105R	NM_014178	NP_054897	Q8NFX7	STXB6_HUMAN	Homo sapiens syntaxin binding protein 6 (amisyn) (STXBP6), mRNA.	207	v-SNARE coiled-coil homology.				vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		ACATTTGTGCTTCATGGCAAG	0.438000														41			12		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026497	79026497	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:79026497G>A	uc003kgc.3	+	1	1981	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	637	Glu-rich.					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)		AGAGAATGAGGAATTTGAGGC	0.463000														50			9		0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129823	1129823	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:1129823C>T	uc021taf.1	+	1	1026	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.L319L	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	319					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CCAGAAGGTTCTGTGCCTCCG	0.642000														28			3		0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31711477	31711477	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:31711477G>A	uc001utl.3	-	17	2832	c.2561C>T	c.(2560-2562)tCt>tTt	p.S854F	HSPH1_uc001utj.3_Missense_Mutation_p.S852F|HSPH1_uc001utk.3_Missense_Mutation_p.S808F|HSPH1_uc010aaw.3_Missense_Mutation_p.S811F|HSPH1_uc010tds.2_Missense_Mutation_p.S776F	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	852					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	p.S852Y(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CATATTAACAGAATTTTTCTC	0.308000														97			12		0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68379016	68379016	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:68379016C>T	uc002aqz.3	+	1	490	c.397C>T	c.(397-399)Cat>Tat	p.H133Y	PIAS1_uc010ujx.2_Missense_Mutation_p.H133Y	NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	133	PINIT.				JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						TCACCCAGTCCATCCGGATAT	0.403000														79			4		0	0	1	0	0
RPL29	6159	broad.mit.edu	37	3	52027815	52027815	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:52027815G>A	uc003dcs.3	-	3	524	c.430C>T	c.(430-432)Cca>Tca	p.P144S		NM_000992	NP_000983	P47914	RL29_HUMAN	Homo sapiens ribosomal protein L29 (RPL29), mRNA.	144					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|heparin binding|protein binding|structural constituent of ribosome			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCTGAGCTGGAACTGAAGCT	0.612000														70			18		0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304404	115304404	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:115304404G>A	uc022cdd.1	+	0	871	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	AGTR2_uc004eqh.4_Missense_Mutation_p.E291K	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	291					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	p.C290C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TAATAGCTGCGAAGTTATAGC	0.488000														70			35		0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99325744	99325744	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:99325744G>A	uc003htw.4	+	6	947	c.757G>A	c.(757-759)Gca>Aca	p.A253T	RAP1GDS1_uc003htx.4_Missense_Mutation_p.A252T|RAP1GDS1_uc003htv.4_Missense_Mutation_p.A253T|RAP1GDS1_uc003htz.4_Missense_Mutation_p.A203T|RAP1GDS1_uc003hty.4_Missense_Mutation_p.A204T|RAP1GDS1_uc003hua.4_Missense_Mutation_p.A161T	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA.	252							GTPase activator activity|binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TGCTCCATTGGCAGAAAATGG	0.323000			T	NUP98	T-ALL									61			5		0	0	1	0	0
ANKRD16	54522	broad.mit.edu	37	10	5925962	5925962	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:5925962G>A	uc010qat.2	-	3	1200	c.657C>T	c.(655-657)gaC>gaT	p.D219D	ANKRD16_uc009xie.3_Silent_p.D219D|ANKRD16_uc009xif.3_Silent_p.D219D|ANKRD16_uc001iiq.3_Silent_p.D219D	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN	Homo sapiens ankyrin repeat domain 16 (ANKRD16), transcript variant 1, mRNA.	219										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						GCCTAGCGACGTCGATGTGCC	0.463000														56			5		0	0	1	0	0
MRPL20	55052	broad.mit.edu	37	1	1342292	1342292	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:1342292C>T	uc010nyn.1	-	1	291	c.195G>A	c.(193-195)agG>agA	p.R65R	MRPL20_uc001afo.4_Silent_p.R65R	NM_017971	NP_060441	Q9BYC9	RM20_HUMAN	Homo sapiens mitochondrial ribosomal protein L20 (MRPL20), nuclear gene encoding mitochondrial protein, mRNA.	65							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGCTTACGGTCCTCATGTTCT	0.622000														179			17		0	0	1	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75804310	75804310	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:75804310C>T	uc001sxr.1	+	1	339	c.331C>T	c.(331-333)Cct>Tct	p.P111S	GLIPR1L2_uc001sxp.1_Missense_Mutation_p.P111S|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.P4S	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 2 (GLIPR1L2), mRNA.	111						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						AATGGTCCATCCTAAATTTTA	0.363000														70			8		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103237482	103237482	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:103237482C>T	uc001tjq.1	-	10	1614	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	381					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GGCTGGAACTCCGTGACAGTG	0.502000														62			4		0	0	1	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206902417	206902417	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:206902417C>T	uc001hem.2	+	2	667	c.457C>T	c.(457-459)Cga>Tga	p.R153*	MAPKAPK2_uc001hel.2_Nonsense_Mutation_p.R153*	NM_032960	NP_116584	P49137	MAPK2_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.	153	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|stress-activated MAPK cascade|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|protein binding|protein serine/threonine kinase activity|signal transducer activity	p.R153Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AATCCAGGATCGAGGAGACCA	0.577000														48			8		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180031404	180031404	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:180031404G>A	uc001gnt.3	+	25	5695	c.5312G>A	c.(5311-5313)aGa>aAa	p.R1771K	CEP350_uc009wxl.2_Missense_Mutation_p.R1770K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1771						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CGGAAGGAAAGACAGCTGATT	0.423000														18			7		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101716029	101716029	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:101716029G>A	uc001kqj.2	-	3	1294	c.1202C>T	c.(1201-1203)cCc>cTc	p.P401L	DNMBP-AS1_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	401					intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GTCAGATGTGGGAGAGTCTGT	0.517000														98			24		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815353	106815353	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:106815353C>T	uc003ymd.3	+	7	3066	c.3043C>T	c.(3043-3045)Cct>Tct	p.P1015S	ZFPM2_uc011lhs.2_Missense_Mutation_p.P746S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1015					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAATGAATCTCCTAAAGGCCA	0.418000														58			8		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9318781	9318781	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:9318781C>T	uc001qvl.3	-	17	2154	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	PZP_uc009zgl.3_Missense_Mutation_p.E578K|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Missense_Mutation_p.E41K	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.									p.E709D(1)|p.V708E(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TATGGTCTCTCTACTACTCCT	0.378000														44			11		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422498	26422498	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:26422498C>T	uc003abz.1	+	42	6808	c.6558C>T	c.(6556-6558)acC>acT	p.T2186T	MYO18B_uc003aca.1_Silent_p.T2067T|MYO18B_uc010guy.1_Silent_p.T2068T|MYO18B_uc010guz.1_Silent_p.T2066T|MYO18B_uc011aka.1_Silent_p.T1340T|MYO18B_uc011akb.1_Silent_p.T1699T|MYO18B_uc010gva.1_Silent_p.T169T|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2186						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin 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						ACAGCAAGACCTCAGGAGACA	0.562000														84			24		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150945927	150945927	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:150945927G>A	uc003lue.4	-	0	2579	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	FAT2_uc010jhx.1_Missense_Mutation_p.R856C	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	856	Cadherin 7.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGGTGTAGCGAACCCTGCCA	0.542000														67			8		0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096315	41096315	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:41096315C>T	uc002oob.3	+	15	1804	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	SHKBP1_uc002ooc.3_Silent_p.L560L|SHKBP1_uc010xvl.1_Silent_p.L508L|SHKBP1_uc002ooe.3_Silent_p.L422L|SHKBP1_uc010xvm.2_Silent_p.L365L|SHKBP1_uc010xvn.2_Silent_p.L463L|LTBP4_uc002oog.1_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	585						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGACGGCCTCGGCCAGGCCC	0.687000														30			3		0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44491944	44491944	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:44491944G>A	uc003cnf.2	-	5	1163	c.815C>T	c.(814-816)tCc>tTc	p.S272F	ZNF445_uc011azv.1_Missense_Mutation_p.S260F|ZNF445_uc011azw.1_Missense_Mutation_p.S272F	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	272	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CTTACCCAGGGAAGCCATGTT	0.493000														72			21		0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034718	150034718	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:150034718C>T	uc003wgz.4	+	0	768	c.768C>T	c.(766-768)tcC>tcT	p.S256S	LRRC61_uc003wgv.3_Silent_p.S256S|LRRC61_uc003wgx.3_Silent_p.S256S|LRRC61_uc003wgw.3_Silent_p.S256S	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	Homo sapiens leucine rich repeat containing 61 (LRRC61), transcript variant 2, mRNA.	256										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCACCTCTTCCTTCGTCTTCT	0.657000														20			7		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					90			24		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117679018	117679018	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:117679018A>G	uc003pxp.1	-	23	4002	c.3803T>C	c.(3802-3804)aTt>aCt	p.I1268T	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1268					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCTATTGTGAATCTTCACCTC	0.313000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									29			10		0	0	1	0	0
APP	351	broad.mit.edu	37	21	27462274	27462274	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:27462274G>A	uc002ylz.3	-	2	540	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	APP_uc010glk.3_Missense_Mutation_p.P109S|APP_uc002yma.3_Missense_Mutation_p.P114S|APP_uc011ach.2_Missense_Mutation_p.P58S|APP_uc021whz.1_Missense_Mutation_p.P114S|APP_uc021wia.1_Missense_Mutation_p.P114S|APP_uc002ymb.3_Missense_Mutation_p.P114S|APP_uc010glj.3_Missense_Mutation_p.P58S|APP_uc021wib.1_Missense_Mutation_p.P114S|APP_uc011aci.2_Missense_Mutation_p.P79S|APP_uc011acj.2_Missense_Mutation_p.P114S	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	114					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CAGCGGTAGGGAATCACAAAG	0.572000														121			19		0	0	1	0	0
C1GALT1	56913	broad.mit.edu	37	7	7278223	7278223	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:7278223C>A	uc003srb.2	+	2	781	c.558C>A	c.(556-558)taC>taA	p.Y186*	C1GALT1_uc003sra.3_Nonsense_Mutation_p.Y186*|C1GALT1_uc010kto.2_Nonsense_Mutation_p.Y186*	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA.	186					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)		TTTCAAAATACGACCCTGAAG	0.388000														51			13		0.000151284	0.000152303	1	1	0
FOXI1	2299	broad.mit.edu	37	5	169535371	169535371	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:169535371C>T	uc003mai.4	+	1	938	c.893C>T	c.(892-894)cCc>cTc	p.P298L	FOXI1_uc003maj.4_Missense_Mutation_p.P203L	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	298					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACGAGCCACCCCTTGGTCACA	0.622000									Pendred syndrome					71			11		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160786616	160786616	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:160786616G>A	uc001fwu.3	+	4	1355	c.1305G>A	c.(1303-1305)agG>agA	p.R435R	LY9_uc001fwv.3_Silent_p.R435R|LY9_uc001fww.3_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Silent_p.R87R	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	435	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGTCAGCAGGAGTTCCCACC	0.498000														115			23		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467460	10467461	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:10467460_10467461CC>TT	uc003wtc.3	-	3	4376_4377	c.4147_4148GG>AA	c.(4147-4149)gga>AAa	p.G1383K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1383					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTGCAGTCCTCCTTCTGGCCCT	0.530000														318			66		0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98254283	98254283	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:98254283C>T	uc003upl.2	+	2	870	c.693C>T	c.(691-693)ctC>ctT	p.L231L		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	231	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)			CCCTCCCACTCCGCACAAACT	0.592000														281			42		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228462334	228462334	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:228462334G>A	uc009xez.1	+	19	5789	c.5745G>A	c.(5743-5745)gaG>gaA	p.E1915E	OBSCN_uc001hsn.3_Silent_p.E1915E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1915	Ig-like 19.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				AGGGCGGCGAGGCCACCTTCC	0.627000														31			3		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161006178	161006178	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:161006178G>A	uc003qtl.3	-	26	4309	c.4189C>T	c.(4189-4191)Cga>Tga	p.R1397*		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3905	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)	AGTGTGCCTCGATAACTCTGT	0.463000														193			55		0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8083141	8083141	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:8083141G>A	uc001qtr.3	-	4	870	c.608C>T	c.(607-609)cCa>cTa	p.P203L		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	203					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.P203T(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AGGGCAAAATGGAAGGGCTGC	0.433000														121			29		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153173	105153173	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:105153173G>A	uc004emd.3	+	12	1843	c.1540G>A	c.(1540-1542)Gac>Aac	p.D514N	NRK_uc010npc.1_Missense_Mutation_p.D182N	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	514	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACAAGATTTGGACCAGGTACC	0.547000										HNSCC(51;0.14)				24			14		0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37618599	37618599	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:37618599A>C	uc010cvv.3	+	0	861	c.275A>C	c.(274-276)gAc>gCc	p.D92A	CDK12_uc010wef.1_Missense_Mutation_p.D92A|CDK12_uc002hrw.4_Missense_Mutation_p.D92A	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	92					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTCAAACTAGACCGAAGGGAG	0.527000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				52			8		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538171	55538171	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:55538171G>A	uc003xsd.1	+	3	1877	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	577					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTCAATTGTGGAGGAAGATGT	0.348000														121			26		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93116311	93116311	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:93116311C>T	uc003umv.2	-	3	337	c.37G>A	c.(37-39)Gat>Aat	p.D13N	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_5'UTR|CALCR_uc003umw.2_5'UTR|MIR489_uc022ahk.1_5'Flank	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	0					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TTTTGAAGATCTCTTTGTCCT	0.289000														52			13		0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43859874	43859874	+	Silent	SNP	A	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:43859874A>C	uc002owi.3	+	3	483	c.441A>C	c.(439-441)acA>acC	p.T147T	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	147	UPAR/Ly6 1.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				AGGGGACAACAGAAGAGATCT	0.582000														59			6		0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083219	66083219	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:66083219G>A	uc001ohm.1	-	0	1297	c.1280C>T	c.(1279-1281)cCc>cTc	p.P427L		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	427	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGGCCAGGTGGGCTCCGGGTA	0.657000														181			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082490	9082490	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:9082490C>T	uc002mkp.3	-	0	9529	c.9325G>A	c.(9325-9327)Gaa>Aaa	p.E3109K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3110	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						GTCTGTGTTTCAGCTGTTGTT	0.483000														244			18		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156931484	156931484	+	Silent	SNP	G	A	A	rs36029227	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:156931484G>A	uc001fqo.3	-	12	2144	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	ARHGEF11_uc001fqn.3_Silent_p.F408F	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	368	RGSL.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTTTCTCCAGGAAAATATTCC	0.418000														88			11		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639257	3639257	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:3639257G>A	uc002cvp.2	-	11	5009	c.4382C>T	c.(4381-4383)gCc>gTc	p.A1461V		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1461	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCTGTCGGCGGCCTCGTTCAT	0.652000								Direct reversal of damage						174			38		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142566873	142566873	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:142566873G>A	uc011kst.2	+	15	3217	c.2430G>A	c.(2428-2430)aaG>aaA	p.K810K	EPHB6_uc011ksu.2_Silent_p.K810K|EPHB6_uc003wbs.3_Silent_p.K518K|EPHB6_uc003wbt.3_Silent_p.K284K|EPHB6_uc003wbu.3_Silent_p.K518K|EPHB6_uc003wbv.3_Silent_p.K194K	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	810	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGGTGTGCAAGGTGGCCCGTC	0.642000														96			20		0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1558805	1558805	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:1558805C>T	uc001agg.3	+	2	363	c.318C>T	c.(316-318)gcC>gcT	p.A106A	MIB2_uc001agh.3_Intron|MIB2_uc001agi.3_Silent_p.A106A|MIB2_uc001agj.3_5'UTR|MIB2_uc001agk.3_Silent_p.A106A|MIB2_uc001agl.2_Silent_p.A5A|MIB2_uc001agm.3_Intron|MIB2_uc010nyq.2_Silent_p.A5A|MIB2_uc009vkh.3_5'Flank|MIB2_uc001agn.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	49	MIB/HERC2 1.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCCCTCTGCCCACAGGTCCC	0.716000														13			7		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324919	150324919	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:150324919C>T	uc022apv.1	-	2	1457	c.977G>A	c.(976-978)gGc>gAc	p.G326D	GIMAP6_uc003whn.3_Missense_Mutation_p.G256D|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	256							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAGCCTTGGCCCTGGCTTAC	0.512000														130			18		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640269	7640269	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:7640269C>T	uc001qsz.3	-	8	1864	c.1736_splice	c.e8-1	p.R579_splice	CD163_uc001qta.3_Splice_Site_p.R579_splice|CD163_uc009zfw.2_Missense_Mutation_p.G612E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	579					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						TTCTGTGTATCCTGGAAGGAG	0.488000														88			17		0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141162981	141162981	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:141162981C>T	uc010hup.3	+	1	1801	c.1754C>T	c.(1753-1755)tCt>tTt	p.S585F	ZBTB38_uc003etw.3_Missense_Mutation_p.S584F|ZBTB38_uc010hun.3_Missense_Mutation_p.S581F|ZBTB38_uc010huo.3_Missense_Mutation_p.S584F|ZBTB38_uc003ety.3_Missense_Mutation_p.S584F|ZBTB38_uc021xes.1_Missense_Mutation_p.S584F	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	584					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TACCGAAATTCTTCCTATGAA	0.418000														82			17		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33470070	33470070	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:33470070G>A	uc003zsz.3	-	3	599	c.498C>T	c.(496-498)taC>taT	p.Y166Y	NOL6_uc003zta.3_Silent_p.Y166Y|NOL6_uc010mjv.3_Silent_p.Y166Y|NOL6_uc011lob.2_Intron|NOL6_uc003ztb.1_Silent_p.Y166Y	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	166					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)		TGCCCAGAAGGTAGCTGCCCA	0.607000														56			9		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776784	77776784	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:77776784G>A	uc003yau.2	+	10	11221	c.10834G>A	c.(10834-10836)Gat>Aat	p.D3612N		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3563						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)			CATCCGAATGGATATGTTCAG	0.368000										HNSCC(33;0.089)				20			3		0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9489222	9489222	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:9489222C>T	uc010coc.3	+	2	462	c.233C>T	c.(232-234)tCc>tTc	p.S78F	WDR16_uc002gly.3_Missense_Mutation_p.S68F|WDR16_uc002glz.3_Intron			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	68						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AACAACGTCTCCTGCTTGGCC	0.463000														165			24		0	0	1	0	0
ZNF419	79744	broad.mit.edu	37	19	58004500	58004500	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:58004500G>A	uc010ety.1	+	4	818	c.578G>A	c.(577-579)aGt>aAt	p.S193N	ZNF419_uc002qov.2_Missense_Mutation_p.S192N|ZNF419_uc010etz.1_Missense_Mutation_p.S180N|ZNF419_uc002qow.2_Missense_Mutation_p.S160N|ZNF419_uc010eua.1_Missense_Mutation_p.S179N|ZNF419_uc010eub.1_Missense_Mutation_p.S147N|ZNF419_uc010euc.1_Missense_Mutation_p.S146N	NM_001098491	NP_001091961	Q96HQ0	ZN419_HUMAN	Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA.	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AGCTCCAAAAGTAGGGAGGCC	0.478000														33			4		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559726	20559726	+	Missense_Mutation	SNP	C	T	T	rs138313532	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:20559726C>T	uc002dhj.4	-	7	1174	c.964G>A	c.(964-966)Gat>Aat	p.D322N	ACSM2B_uc002dhk.4_Missense_Mutation_p.D322N|ACSM2B_uc010bwf.1_Missense_Mutation_p.D322N	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	322					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGGAAAGATCCTGCTGTAGC	0.493000														104			31		0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890456	23890456	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:23890456C>T	uc001ywj.4	-	0	2538	c.2434G>A	c.(2434-2436)Gag>Aag	p.E812K		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTTGGGGTCTCTGAGGCAGCA	0.567000														67			30		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155098601	155098601	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:155098601C>T	uc002tyt.4	+	2	474	c.370C>T	c.(370-372)Cat>Tat	p.H124Y	GALNT13_uc002tyr.4_Missense_Mutation_p.H124Y|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	124	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CATTGTGTTTCATAATGAAGC	0.383000														70			5		0	0	1	0	0
TMSB15B	286527	broad.mit.edu	37	X	103219165	103219165	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:103219165G>A	uc010noz.3	+	1	790	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	TMSB15B_uc004elo.4_Non-coding_Transcript|TMSB15B_uc004elq.4_Non-coding_Transcript	NM_194324	NP_919305	P0CG34	TB15A_HUMAN	Homo sapiens thymosin beta 15B (TMSB15B), mRNA.	24					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			skin(1)	1						AACTAATACTGAAGAAAAAAA	0.353000														23			22		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40687408	40687408	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:40687408C>T	uc001rmg.4	+	20	2872	c.2751C>T	c.(2749-2751)taC>taT	p.Y917Y	LRRK2_uc001rmh.1_Silent_p.Y539Y|LRRK2_uc009zjw.3_5'Flank	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	917					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GAGAATTTTACCGAGATGCCG	0.333000														49			5		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56357836	56357837	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:56357836_56357837GG>AA	uc003pcy.4	-	64	12684_12685	c.12576_12577CC>TT	c.(12574-12579)ctccaa>ctTTaa	p.Q4193*	DST_uc003pda.4_5'Flank	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6605					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGAAGTCTTGGAGAGAATTGT	0.426000														25			5		0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701725	8701725	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:8701725G>A	uc002glp.2	-	0	943	c.714C>T	c.(712-714)tcC>tcT	p.S238S		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	238						integral to membrane		p.S238L(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						ACGCCTCCAAGGACAGGTCAA	0.607000														57			16		0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105243202	105243202	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:105243202G>A	uc003dvx.3	+	2	940	c.244G>A	c.(244-246)Gat>Aat	p.D82N	ALCAM_uc003dvv.3_Missense_Mutation_p.D82N|ALCAM_uc003dvw.2_Missense_Mutation_p.D82N|ALCAM_uc003dvy.3_Missense_Mutation_p.D82N|ALCAM_uc011bhh.1_Missense_Mutation_p.D31N	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	82	Ig-like V-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GCAGTACGACGATGTACCAGA	0.363000														71			11		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55085958	55085958	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:55085958C>T	uc010ern.3	+	3	730	c.261C>T	c.(259-261)atC>atT	p.I87I	LILRA1_uc002qgg.4_Silent_p.I87I|LILRA1_uc002qgf.3_Silent_p.I87I|LILRA1_uc010yfe.1_Silent_p.I87I|LILRA1_uc010yff.1_Silent_p.I75I|LILRA1_uc010ero.3_Silent_p.I75I|LILRA1_uc010yfg.1_Silent_p.I87I			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	88	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCCCATCCATCACCTGGGAAC	0.527000														93			10		0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42950300	42950300	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:42950300C>T	uc003cmk.2	+	2	416	c.230C>T	c.(229-231)cCc>cTc	p.P77L	ZNF662_uc003cmi.2_Missense_Mutation_p.P17L|ZNF662_uc003cmj.2_5'UTR	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTTCCATTTCCCAAACCGGCT	0.577000														268			62		0	0	1	0	0
CWC25	54883	broad.mit.edu	37	17	36963057	36963057	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:36963057G>A	uc002hqu.3	-	6	1016	c.863C>T	c.(862-864)tCc>tTc	p.S288F	CWC25_uc010wdv.2_Missense_Mutation_p.S225F|CWC25_uc010wdw.1_Non-coding_Transcript|CWC25_uc010wdx.1_Non-coding_Transcript	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	Homo sapiens CWC25 spliceosome-associated protein homolog (S. cerevisiae) (CWC25), mRNA.	288										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						TCTGCCCAGGGATCGAGACCT	0.587000														53			5		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79428193	79428193	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:79428193C>T	uc002kaf.2	+	24	6318	c.6318C>T	c.(6316-6318)ttC>ttT	p.F2106F	BAHCC1_uc002kae.2_Silent_p.F1398F	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	2168							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			ACGCGCCCTTCGTCGGGGGGA	0.721000														9			4		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57286596	57286596	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:57286596C>T	uc002qnr.2	-	10	1426	c.1044G>A	c.(1042-1044)cgG>cgA	p.R348R	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Silent_p.R144R|PEG3_uc010ygq.1_Silent_p.R144R|PEG3_uc010etp.2_Silent_p.R348R|PEG3_uc010ygs.1_Silent_p.R348R|PEG3_uc002qnq.2_Silent_p.R348R	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	497					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGTATGGATCCGTTCGTGTC	0.463000														99			19		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147360	77147360	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:77147360C>T	uc011bgk.2	+	1	900	c.257C>T	c.(256-258)cCc>cTc	p.P86L	ROBO2_uc021xat.1_Missense_Mutation_p.P102L|ROBO2_uc003dpy.4_Missense_Mutation_p.P86L|ROBO2_uc003dpz.3_Missense_Mutation_p.P86L|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	86	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGCTTCTGCCCAGCGGATCC	0.567000														59			17		0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24975609	24975609	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:24975609G>A	uc002dnb.3	-	6	575	c.482C>T	c.(481-483)tCc>tTc	p.S161F	ARHGAP17_uc002dnc.3_Missense_Mutation_p.S161F|ARHGAP17_uc010vcf.2_5'UTR|ARHGAP17_uc002dng.1_Missense_Mutation_p.S161F	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	161	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGTTCCTGAGGATTTGTGAGC	0.458000														106			20		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44952563	44952563	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:44952563G>A	uc003coc.4	+	11	1793	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	574					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGAGTCTAAGGAAATCATGGC	0.468000														66			20		0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56345508	56345508	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:56345508G>C	uc001sij.3	+	17	1792	c.1528G>C	c.(1528-1530)Gaa>Caa	p.E510Q	DGKA_uc001sih.1_Missense_Mutation_p.E398Q|DGKA_uc001sii.1_Missense_Mutation_p.E368Q|DGKA_uc009zod.1_Missense_Mutation_p.E429Q|DGKA_uc001sik.3_Missense_Mutation_p.E510Q|DGKA_uc001sil.3_Missense_Mutation_p.E510Q|DGKA_uc001sim.3_Missense_Mutation_p.E510Q|DGKA_uc001sin.3_Missense_Mutation_p.E510Q|DGKA_uc009zof.3_Missense_Mutation_p.E156Q|DGKA_uc001sio.3_Missense_Mutation_p.E252Q	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	510					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCAACAAACTGAAGAAAAAAG	0.458000														57			3		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94879518	94879518	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:94879518G>A	uc003unp.3	+	8	2563	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K	PPP1R9A_uc010lfj.3_Missense_Mutation_p.E783K|PPP1R9A_uc011kif.2_Missense_Mutation_p.E761K|PPP1R9A_uc003unq.3_Missense_Mutation_p.E761K|PPP1R9A_uc011kig.2_Missense_Mutation_p.E761K	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	761	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAGGCCTTGGAAAAGAAATA	0.373000										HNSCC(28;0.073)				65			10		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329565	152329565	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:152329565C>T	uc001ezw.4	-	2	770	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	233	Ser-rich.						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)			CCTTTCCTTTCCCAACTGTTT	0.438000														267			69		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139727077	139727077	+	Splice_Site	SNP	A	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:139727077A>C	uc003vvl.1	-	10	2502	c.1628_splice	c.e10+1	p.W543_splice	PARP12_uc010lnf.1_Splice_Site	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	543	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCAACGCACCACTGGTAGACT	0.562000														92			4		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12164439	12164439	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:12164439C>T	uc003nac.3	+	8	8081	c.7902C>T	c.(7900-7902)gaC>gaT	p.D2634D	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2634					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)				GTAAAATGGACACAGAGAAGG	0.537000														54			12		0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117982545	117982545	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:117982545G>A	uc021qrd.1	+	7	964	c.673G>A	c.(673-675)Gac>Aac	p.D225N	TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.D220N|TMPRSS4_uc010rxo.2_Missense_Mutation_p.D223N|TMPRSS4_uc010rxs.2_Missense_Mutation_p.D185N|TMPRSS4_uc010rxq.2_Missense_Mutation_p.D78N|TMPRSS4_uc010rxr.2_Missense_Mutation_p.D200N|TMPRSS4_uc010rxt.2_Missense_Mutation_p.D200N	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	225	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CATCCAGTACGACAAACAGCA	0.617000														72			7		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144096266	144096266	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:144096266G>A	uc022aoj.1	-	7	1246	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	416	Pro-rich.				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGCAGCATGGGGGGCTCTAGG	0.597000														25			9		0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37265141	37265141	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:37265141G>A	uc002rpp.1	-	20	3169	c.3073C>T	c.(3073-3075)Cgt>Tgt	p.R1025C		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1025							binding	p.R1025H(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAAGAGGAACGAATTGTAGAA	0.363000														58			12		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23768735	23768735	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:23768735G>A	uc003sws.4	+	5	417	c.350G>A	c.(349-351)gGa>gAa	p.G117E	STK31_uc003swt.4_Missense_Mutation_p.G94E|STK31_uc011jze.2_Missense_Mutation_p.G117E|STK31_uc010kuq.3_Missense_Mutation_p.G94E	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	117	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTGACTATGGAAATACTGAA	0.358000														59			16		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064844	63064844	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:63064844C>T	uc009yor.3	+	2	784	c.576C>T	c.(574-576)ttC>ttT	p.F192F	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	192						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCGCTGCCTTCGCTCCCACCT	0.428000														113			34		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99264287	99264287	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:99264287C>T	uc003urq.3	-	5	560	c.458G>A	c.(457-459)gGa>gAa	p.G153E	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.G40E|CYP3A7_uc011kiy.2_Missense_Mutation_p.G143E|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	153					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CAATACATCTCCATACTGGGC	0.478000														149			23		0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25312884	25312884	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:25312884G>A	uc001isi.4	+	2	1061	c.732G>A	c.(730-732)caG>caA	p.Q244Q	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Silent_p.Q244Q	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	244					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	ACTGTGAACAGAAGGTTTCAG	0.423000														85			20		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488005	24488006	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:24488005_24488006CC>AT	uc003jgr.2	-	11	2639_2640	c.2133_2134GG>AT	c.(2131-2136)cgggat>cgATat	p.D712Y	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	712					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTAATGAAATCCCGGACGTCCG	0.470000										HNSCC(23;0.051)				67			7		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334242	37334242	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:37334242G>A	uc003aqa.4	+	13	2609	c.2392G>A	c.(2392-2394)Gaa>Aaa	p.E798K	CSF2RB_uc003aqc.4_Missense_Mutation_p.E804K	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	798					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GAACCCAGGGGAACGCCCGGC	0.657000														96			4		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110861212	110861212	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:110861212C>T	uc001vqw.4	-	11	799	c.677G>A	c.(676-678)gGa>gAa	p.G226E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	226	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACCTTTTGGTCCTTGAAAACT	0.413000														136			11		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26310574	26310574	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:26310574C>A	uc001isn.2	+	7	1088	c.728C>A	c.(727-729)cCa>cAa	p.P243Q	MYO3A_uc009xko.1_Missense_Mutation_p.P243Q|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.P243Q|MYO3A_uc001ism.2_Missense_Mutation_p.P243Q	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	243	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTCAAAATACCAAGGTCAGAT	0.488000														95			25		9.39395e-14	9.55371e-14	1	1	0
LDHAL6A	160287	broad.mit.edu	37	11	18498021	18498021	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:18498021A>T	uc001mop.1	+	5	944	c.683A>T	c.(682-684)gAa>gTa	p.E228V	LDHAL6A_uc001moq.2_Missense_Mutation_p.E228V	NM_001144071	NP_659409	Q6ZMR3	LDH6A_HUMAN	Homo sapiens lactate dehydrogenase A-like 6A (LDHAL6A), transcript variant 2, mRNA.	228					glycolysis	cytoplasm	L-lactate dehydrogenase activity|binding	p.W227S(1)		large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	GAGCAGTGGGAAAATGTCCAC	0.418000														67			21		0	0	1	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186572004	186572004	+	Silent	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:186572004A>G	uc010hyy.3	+	3	381	c.246A>G	c.(244-246)gaA>gaG	p.E82E	ADIPOQ_uc003fra.3_Silent_p.E82E	NM_001177800	NP_004788	Q15848	ADIPO_HUMAN	Homo sapiens adiponectin, C1Q and collagen domain containing (ADIPOQ), transcript variant 1, mRNA.	82	Collagen-like.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of blood pressure|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		ACATCGGTGAAACCGGAGTAC	0.512000														61			9		0	0	1	0	0
NPFFR1	64106	broad.mit.edu	37	10	72026036	72026036	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:72026036G>T	uc021psj.1	-	1	137	c.119C>A	c.(118-120)tCc>tAc	p.S40Y		NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN	Homo sapiens neuropeptide FF receptor 1 (NPFFR1), mRNA.	40						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						CGCCACAGGGGAGGTGTGCTG	0.572000														25			8		0.0477658	0.0478859	1	1	0
OGDH	4967	broad.mit.edu	37	7	44706363	44706363	+	Silent	SNP	C	T	T	rs140413676		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:44706363C>T	uc003tln.3	+	4	705	c.546C>T	c.(544-546)ctC>ctT	p.L182L	OGDH_uc003tlm.3_Silent_p.L182L|OGDH_uc011kbx.2_Silent_p.L178L|OGDH_uc011kby.2_Missense_Mutation_p.S84L|OGDH_uc003tlp.3_Silent_p.L193L|OGDH_uc011kbz.2_Missense_Mutation_p.S29L|OGDH_uc003tlo.1_Silent_p.L15L	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	182					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGTCTGACCTCGACAAGGTCT	0.577000														139			29		0	0	1	0	0
SERGEF	26297	broad.mit.edu	37	11	18025994	18025994	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:18025994G>A	uc001mnm.3	-	3	521	c.441C>T	c.(439-441)gcC>gcT	p.A147A	SERGEF_uc009yhd.3_Non-coding_Transcript|SERGEF_uc001mnn.3_Silent_p.A147A|SERGEF_uc010rcz.1_Silent_p.A33A	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN	Homo sapiens secretion regulating guanine nucleotide exchange factor (SERGEF), mRNA.	147					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	Ran guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TCACCTCAATGGCCTGGGGAA	0.443000														33			4		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238287818	238287818	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:238287818G>A	uc002vwl.2	-	5	2243	c.1958C>T	c.(1957-1959)aCc>aTc	p.T653I	COL6A3_uc002vwo.2_Missense_Mutation_p.T447I|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.T447I|COL6A3_uc002vwr.3_Missense_Mutation_p.T246I|COL6A3_uc010znk.1_Intron	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	653	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGGAAATTGGTTTTTCCAAC	0.378000														69			4		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110822001	110822001	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:110822001C>T	uc001vqw.4	-	42	3973	c.3851G>A	c.(3850-3852)gGa>gAa	p.G1284E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1284	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCAGGGTCTCCCTTGGGCCC	0.502000														78			10		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76456161	76456161	+	Silent	SNP	G	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:76456161G>T	uc003yaq.3	+	2	363	c.93G>T	c.(91-93)ggG>ggT	p.G31G	HNF4G_uc003yap.1_Silent_p.G31G|HNF4G_uc003yar.3_Silent_p.G68G	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	31					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GCTGTGATGGGTGCAAGGGTT	0.448000														146			12		1.5842e-08	1.60704e-08	1	1	0
XPO6	23214	broad.mit.edu	37	16	28188617	28188617	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:28188617G>A	uc002dpa.1	-	2	632	c.131C>T	c.(130-132)gCc>gTc	p.A44V	XPO6_uc002dpb.1_Missense_Mutation_p.A30V|XPO6_uc010vcp.1_Missense_Mutation_p.A44V	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	44	Importin N-terminal.				protein export from nucleus		protein binding|protein transporter activity	p.A44A(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GAATCTCCAGGCTCCTATTTG	0.368000														50			5		0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153740201	153740201	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:153740201C>T	uc009wom.3	+	21	2363	c.2142C>T	c.(2140-2142)acC>acT	p.T714T	INTS3_uc001fct.3_Silent_p.T714T|INTS3_uc001fcu.3_Silent_p.T406T|INTS3_uc001fcv.3_Silent_p.T508T|INTS3_uc010peb.2_Silent_p.T508T|INTS3_uc001fcw.3_Silent_p.T227T|INTS3_uc010pec.2_Silent_p.T227T|INTS3_uc001fcx.3_Silent_p.T11T|INTS3_uc001fcy.3_Silent_p.T11T	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	715					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	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)			CCCAGGCTACCCAGCTGGGCG	0.627000														121			36		0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26788126	26788126	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:26788126G>A	uc001uqo.3	-	4	2238	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Silent_p.I631I|RNF6_uc001uqq.3_Silent_p.I631I|RNF6_uc010tdk.2_Silent_p.I275I	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	631	Required for polyubiquitination (By similarity).				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		AAACACTACAGATTTTACCTA	0.383000														132			11		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234526431	234526431	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:234526431G>A	uc002vup.3	+	0	141	c.78G>A	c.(76-78)ggG>ggA	p.G26G	UGT1A1_uc010zmv.1_Silent_p.G26G	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	28					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)	CTGAGGCAGGGAAGCTGCTGG	0.582000														115			17		0	0	1	0	0
NBPF7	343505	broad.mit.edu	37	1	120381976	120381976	+	Silent	SNP	T	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:120381976T>G	uc010oxk.2	-	4	1290	c.669A>C	c.(667-669)tcA>tcC	p.S223S		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	223	NBPF 1.					cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		ATTCCTCCAGTGAGTCCTCAG	0.478000														207			15		0	0	1	0	0
STMN3	50861	broad.mit.edu	37	20	62275112	62275112	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:62275112C>T	uc002yfr.1	-	2	370	c.288G>A	c.(286-288)agG>agA	p.R96R	STMN3_uc021wgd.1_Non-coding_Transcript	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Homo sapiens stathmin-like 3 (STMN3), mRNA.	96					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of Rac GTPase activity|regulation of cytoskeleton organization	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TCCTTGCCTTCCTCCGCTCCT	0.657000														49			7		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17402195	17402195	+	Silent	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:17402195A>G	uc001baf.3	-	11	1516	c.1434T>C	c.(1432-1434)ttT>ttC	p.F478F	PADI2_uc010ocm.2_Silent_p.F362F	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	478					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGATGGGGACAAAGGACATGA	0.597000											OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		145			27		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167672	27167672	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:27167672A>C	uc002rhu.4	+	11	1747	c.1589A>C	c.(1588-1590)gAa>gCa	p.E530A	DPYSL5_uc002rhv.4_Missense_Mutation_p.E530A|DPYSL5_uc021vev.1_Missense_Mutation_p.E530A	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	530					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCTTCACGAATCCAGCTTC	0.622000														110			6		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60788641	60788641	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:60788641C>T	uc010dds.3	-	9	2678	c.2393G>A	c.(2392-2394)aGg>aAg	p.R798K	MARCH10_uc010ddr.3_Missense_Mutation_p.R760K|MARCH10_uc002jag.4_Missense_Mutation_p.R760K|MARCH10_uc002jah.2_Missense_Mutation_p.R759K|BC037347_uc002jaj.1_Intron|BC037347_uc002jak.3_Intron	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	760							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTCTGCAAACCTCTGCTCATA	0.507000														136			8		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167489207	167489207	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:167489207C>T	uc010jjd.3	+	6	1452	c.1452C>T	c.(1450-1452)tcC>tcT	p.S484S	ODZ2_uc003lzq.2_Silent_p.S363S|ODZ2_uc003lzr.4_Silent_p.S252S	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TCAACATCTCCCTCGGGAAGG	0.458000														91			15		0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13251260	13251260	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:13251260C>T	uc001ima.3	+	19	2706	c.2578C>T	c.(2578-2580)Ctg>Ttg	p.L860L	MCM10_uc001imb.3_Silent_p.L859L|MCM10_uc001imc.3_3'UTR	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	860					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGGAGAAACTCTGTTACCAAG	0.398000														69			6		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21150439	21150440	+	Silent	DNP	GG	AA	AA			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:21150439_21150440GG>AA	uc002zsz.4	-	17	2358_2359	c.2097_2098CC>TT	c.(2095-2100)gcccta>gcTTta	p.699_700AL>AL		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	699					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCTACCTTTAGGGCAGGGCCCT	0.574000														40			6		0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391897	58391897	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:58391897A>G	uc001nna.4	+	1	585	c.505A>G	c.(505-507)Aca>Gca	p.T169A	CNTF_uc010rkm.2_Non-coding_Transcript	NM_000614	NP_000605	P26441	CNTF_HUMAN	Homo sapiens ciliary neurotrophic factor (CNTF), mRNA.	169					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TTCACAGTGGACAGTAAGGTC	0.478000														88			8		0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157186669	157186670	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:157186669_157186670GG>AA	uc002tyz.4	-	2	451_452	c.29_30CC>TT	c.(28-30)tcc>tTT	p.S10F	NR4A2_uc021vri.1_Missense_Mutation_p.S10F|NR4A2_uc002tyx.4_Intron|NR4A2_uc010zcf.2_Missense_Mutation_p.S10F|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	10					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CTTGAGGCGAGGACCCATACTG	0.520000														31			8		0	0	1	0	0
CTSL2	1515	broad.mit.edu	37	9	99799644	99799644	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:99799644G>A	uc010msi.3	-	3	493	c.286C>T	c.(286-288)Cga>Tga	p.R96*	CTSL2_uc004awt.3_Nonsense_Mutation_p.R96*|CTSL2_uc004awu.3_Nonsense_Mutation_p.R41*|CTSL2_uc010msj.2_Nonsense_Mutation_p.R41*|CTSL2_uc010msk.3_Nonsense_Mutation_p.R41*	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	96						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				TTCTGGTTTCGAAAGCAACCC	0.423000														71			14		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49189956	49189956	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:49189956C>T	uc002rww.3	-	9	2114	c.2004G>A	c.(2002-2004)agG>agA	p.R668R	FSHR_uc010fbn.3_Silent_p.R642R|FSHR_uc002rwx.3_Silent_p.R606R	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	668					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AGTGGCCATTCCTTGGATGGG	0.438000									Gonadal Dysgenesis, 46 XX					72			11		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8235348	8235348	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:8235348C>T	uc003wsh.4	-	1	571	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	191							ATP binding|non-membrane spanning protein tyrosine kinase activity										GAGGGTTTTTCTTTGTGCACA	0.597000														121			23		0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38233932	38233932	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:38233932G>A	uc001zjw.3	+	7	606	c.504_splice	c.e7+1	p.K168_splice	TMCO5A_uc001zjv.1_Splice_Site_p.K168_splice|TMCO5A_uc010bbc.1_Splice_Site_p.K168_splice	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	168						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						CTACATAAAGGTAGAGCTTCT	0.363000														73			4		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55924003	55924003	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:55924003C>T	uc003pcs.3	-	28	2878	c.2646G>A	c.(2644-2646)ggG>ggA	p.G882G	COL21A1_uc010jzz.3_Silent_p.G267G|COL21A1_uc011dxg.2_Silent_p.G255G|COL21A1_uc011dxh.2_Silent_p.G233G|COL21A1_uc003pcr.3_Silent_p.G239G	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	882	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GATACCCAAACCCTTGGCTCC	0.443000														68			10		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11733176	11733176	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:11733176G>A	uc002rbk.1	+	10	1920	c.1620G>A	c.(1618-1620)aaG>aaA	p.K540K	GREB1_uc002rbo.1_Silent_p.K174K	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	540						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCGAGGGCAAGCTTGCCAAGA	0.662000														34			9		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247398	164247398	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:164247398C>T	uc003iqm.2	-	1	774	c.309G>A	c.(307-309)atG>atA	p.M103I	NPY1R_uc021xtv.1_Missense_Mutation_p.M103I|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	103					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCCAGTGGTCCATTAATGTGT	0.423000														41			15		0	0	1	0	0
LHFPL4	375323	broad.mit.edu	37	3	9543941	9543941	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:9543941C>T	uc003bry.3	-	3	984	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	233						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GACTCCCCATCCAGAGACATC	0.552000														61			8		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84075655	84075655	+	Silent	SNP	G	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:84075655G>C	uc002fhg.1	-	0	108	c.108C>G	c.(106-108)tcC>tcG	p.S36S		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	36					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCCAGCGCGGACTTCATGA	0.637000														143			12		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158656289	158656289	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:158656289C>T	uc001fst.1	-	0	218	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	7					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.K6R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTACGGTTTCCTTTGGAAAT	0.333000														71			12		0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132047117	132047117	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:132047117C>T	uc010htp.2	+	1	217	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ACPP_uc003eon.3_Missense_Mutation_p.R43W|ACPP_uc003eop.4_Missense_Mutation_p.R43W	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	43						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TCAGGTGTTTCGGCATGGAGA	0.443000														69			14		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330723	125330723	+	Missense_Mutation	SNP	C	T	T	rs143007621		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:125330723C>T	uc004bmp.1	-	0	34	c.34G>A	c.(34-36)Gag>Aag	p.E12K		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGGATAAACTCGGAGACACTG	0.458000														46			16		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39023143	39023143	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:39023143G>A	uc002oit.3	+	76	11285	c.11155G>A	c.(11155-11157)Gat>Aat	p.D3719N	RYR1_uc002oiu.3_Missense_Mutation_p.D3714N|RYR1_uc002oiv.1_Missense_Mutation_p.D634N|RYR1_uc010xuf.1_Missense_Mutation_p.D639N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3719					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACTGGATGAGGATTACCTGTA	0.572000														65			14		0	0	1	0	0
PHYH	5264	broad.mit.edu	37	10	13336470	13336470	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:13336470G>A	uc001imf.3	-	3	460	c.372C>T	c.(370-372)ttC>ttT	p.F124F	PHYH_uc001ime.3_Silent_p.F24F	NM_006214	NP_001032626	O14832	PAHX_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA.	124					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TATCTTCCTGGAAATCCTGGA	0.468000														78			12		0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129962492	129962492	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:129962492G>A	uc003vpr.3	+	10	1289	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E	CPA4_uc011kpd.2_Silent_p.E381E|CPA4_uc011kpe.2_Silent_p.E310E	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA.	414					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					CCATCATGGAGCATGTGCGGG	0.532000														178			35		0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62373358	62373358	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:62373358C>T	uc002ygq.3	+	3	583	c.528C>T	c.(526-528)ccC>ccT	p.P176P	SLC2A4RG_uc002ygr.3_Silent_p.P71P|SLC2A4RG_uc011abj.2_Silent_p.P71P|SLC2A4RG_uc002ygs.3_Intron	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	Homo sapiens SLC2A4 regulator (SLC2A4RG), mRNA.	176						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCCCACTGCCCCCCGAGGCAG	0.687000														54			15		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62871721	62871721	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:62871721G>A	uc002yii.3	+	22	3650	c.3286G>A	c.(3286-3288)Gac>Aac	p.D1096N	MYT1_uc002yij.3_Missense_Mutation_p.D755N	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	1096					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)					CACCCTCACCGACATGTACTC	0.562000														68			9		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012269	29012269	+	Silent	SNP	C	T	T	rs144276666		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:29012269C>T	uc003nlw.2	-	0	684	c.684G>A	c.(682-684)acG>acA	p.T228T	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T228T(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTTTTGACTTCGTTCTCAGCA	0.393000														157			43		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823438	97823438	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:97823438C>T	uc003upd.2	+	10	3954	c.3661C>T	c.(3661-3663)Cgc>Tgc	p.R1221C		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1221					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACAGGACGATCGCCCCTGCAC	0.617000														44			11		0	0	1	0	0
OR7E91P	79315	broad.mit.edu	37	2	71256137	71256137	+	RNA	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:71256137C>T	uc002sho.3	+	2		c.307C>T			OR7E91P_uc010fdz.3_Non-coding_Transcript					Homo sapiens olfactory receptor, family 7, subfamily E, member 91 pseudogene (OR7E91P), non-coding RNA.																		GCAGCCCATCCTCGCTGGGCT	0.587000														31			6		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103444977	103444977	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:103444977G>A	uc001dum.3	-	31	2925	c.2607C>T	c.(2605-2607)ttC>ttT	p.F869F	COL11A1_uc001duk.3_Silent_p.F53F|COL11A1_uc001dul.3_Silent_p.F857F|COL11A1_uc001dun.3_Silent_p.F818F|COL11A1_uc009weh.3_Silent_p.F741F	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	857	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G868V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GAAACCCAGGGAATCCAGTGG	0.343000														43			11		0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51569480	51569480	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:51569480G>A	uc010lxy.1	+	14	1232	c.861G>A	c.(859-861)atG>atA	p.M287I	SNTG1_uc003xqs.1_Missense_Mutation_p.M287I|SNTG1_uc010lxz.1_Missense_Mutation_p.M287I|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	287	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTGTCTACATGGGCTGGTGTG	0.423000														127			37		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129785596	129785596	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:129785596G>A	uc001qfm.3	-	16	2729	c.2497C>T	c.(2497-2499)Ccc>Tcc	p.P833S	PRDM10_uc001qfj.3_Missense_Mutation_p.P747S|PRDM10_uc001qfk.3_Missense_Mutation_p.P743S|PRDM10_uc001qfl.3_Missense_Mutation_p.P747S|PRDM10_uc010sbx.2_Missense_Mutation_p.P743S|PRDM10_uc001qfn.3_Missense_Mutation_p.P829S|PRDM10_uc009zcs.1_Missense_Mutation_p.P16S	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	833					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAGCAGACGGGAGGGGTGGCG	0.602000														121			25		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43783279	43783279	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:43783279G>A	uc001ciu.3	+	15	2842	c.2665G>A	c.(2665-2667)Gaa>Aaa	p.E889K	TIE1_uc010oke.2_Missense_Mutation_p.E844K|TIE1_uc009vwq.3_Missense_Mutation_p.E845K|TIE1_uc010okg.2_Missense_Mutation_p.E534K	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	889	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGAGAACTGGAAGTTCTGTG	0.498000														206			39		0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654807	247654807	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:247654807C>T	uc001icz.2	+	0	438	c.378C>T	c.(376-378)gtC>gtT	p.V126V		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ATGTGGCCGTCTGCCGGTCCC	0.587000														143			24		0	0	1	0	0
LDHB	3945	broad.mit.edu	37	12	21807538	21807538	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:21807538T>C	uc001rfd.3	-	1	401	c.68A>G	c.(67-69)aAg>aGg	p.K23R	LDHB_uc001rfe.3_Missense_Mutation_p.K23R	NM_001174097	NP_002291	P07195	LDHB_HUMAN	Homo sapiens lactate dehydrogenase B (LDHB), transcript variant 2, mRNA.	23					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	p.N22Y(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	TACAGTGATCTTATTGTTTGG	0.413000														144			39		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755265	140755265	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140755265G>T	uc003ljy.2	+	0	1615	c.1615G>T	c.(1615-1617)Gac>Tac	p.D539Y	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.D539Y	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	541	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACAGCGGGGACCCGCCTCT	0.597000														177			21		4.54149e-19	4.63844e-19	1	1	0
C6orf222	389384	broad.mit.edu	37	6	36287271	36287271	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:36287271G>A	uc003oly.3	-	10	1963	c.1785C>T	c.(1783-1785)aaC>aaT	p.N595N		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	595										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCCTGGCGCGGTTCCTGTCCA	0.537000														106			29		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34209041	34209041	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:34209041G>A	uc001bxm.1	-	13	2190	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F	CSMD2_uc001bxn.1_Silent_p.F631F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	631	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGATGACCAGGAAATCAAACT	0.617000														103			9		0	0	1	0	0
VSNL1	7447	broad.mit.edu	37	2	17773479	17773479	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:17773479G>A	uc002rcm.3	+	1	522	c.138G>A	c.(136-138)gaG>gaA	p.E46E		NM_003385	NP_003376	P62760	VISL1_HUMAN	Homo sapiens visinin-like 1 (VSNL1), mRNA.	46	EF-hand 1.						calcium ion binding	p.E46Q(1)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAAATCTCGAGGAATTTCAGC	0.433000														151			19		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769160	247769160	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:247769160G>A	uc010pyz.2	+	0	273	c.273G>A	c.(271-273)acG>acA	p.T91T		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAAAGAAGACGATCACTTACG	0.463000														282			86		0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159273834	159273834	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:159273834T>A	uc001ftq.3	+	3	290	c.193T>A	c.(193-195)Ttc>Atc	p.F65I		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	65	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CACCAAATGGTTCCACAATGG	0.383000														99			22		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65415770	65415770	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:65415770G>T	uc003dmn.3	-	11	2118	c.1592C>A	c.(1591-1593)aCa>aAa	p.T531K	MAGI1_uc003dmm.3_Missense_Mutation_p.T531K|MAGI1_uc003dmo.3_Missense_Mutation_p.T531K|MAGI1_uc003dmp.3_Missense_Mutation_p.T531K|MAGI1_uc010hny.2_Missense_Mutation_p.T416K	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	531	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTGAGCATGTGTGTGTCCCAA	0.478000														62			13		2.23348e-06	2.25803e-06	1	1	0
FCRL1	115350	broad.mit.edu	37	1	157771298	157771298	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:157771298G>A	uc001frg.3	-	5	1069	c.956C>T	c.(955-957)cCa>cTa	p.P319L	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.P319L|FCRL1_uc001fri.3_Intron|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	319						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACGGTGGCTGGACCAAGGGT	0.468000														67			11		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733045	152733045	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:152733045C>T	uc001fal.1	+	1	1039	c.981C>T	c.(979-981)atC>atT	p.I327I	KPRP_uc021ozf.1_Silent_p.I327I	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	327	Pro-rich.					cytoplasm		p.R326Q(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGCCGAATCGAGATTTCCT	0.627000														62			21		0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50191451	50191451	+	Splice_Site	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:50191451A>G	uc011arg.2	-	6	2259	c.2245_splice	c.e6+1	p.V749_splice	BRD1_uc011arf.2_Splice_Site_p.V295_splice|BRD1_uc021wrv.1_Splice_Site|BRD1_uc003biv.3_Splice_Site_p.V700_splice|BRD1_uc021wrw.1_Splice_Site|BRD1_uc003biu.4_Splice_Site_p.V700_splice	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	700					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCAGTTCTTACCGTCTTCCC	0.652000														40			3		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56581139	56581139	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:56581139G>A	uc002iwj.2	-	14	1887	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	593						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTGGCTCTGGGCCACTGGG	0.527000														134			19		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36215909	36215910	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:36215909_36215910CC>TT	uc021usv.1	+	9	3449_3450	c.3449_3450CC>TT	c.(3448-3450)ccc>cTT	p.P1150L	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	912	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCCCTGGCCCCTTTGCTTCTT	0.594000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				50			11		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655339	19655339	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:19655339C>T	uc002nmw.4	+	7	2088	c.2003C>T	c.(2002-2004)gCc>gTc	p.A668V	CILP2_uc002nmv.4_Missense_Mutation_p.A662V	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	662						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGGCCGGTGGCCGTGCGGGTG	0.711000														24			5		0	0	1	0	0
BDH1	622	broad.mit.edu	37	3	197238997	197238997	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:197238997G>A	uc003fxr.3	-	7	1203	c.801C>T	c.(799-801)gtC>gtT	p.V267V	BDH1_uc003fxs.3_Silent_p.V267V|BDH1_uc003fxu.3_Silent_p.V267V	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	267					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CCTTGCGCACGACCTCAGGCA	0.572000														81			23		0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247987	5247987	+	Silent	SNP	G	A	A	rs35811659		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:5247987G>A	uc001mae.1	-	1	185	c.135C>T	c.(133-135)tcC>tcT	p.S45S	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	45			S -> C (in Mississippi).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	GATCCCCAAAGGACTCAAAGA	0.527000									Sickle Cell Trait					75			10		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72146818	72146818	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:72146818G>A	uc002atl.4	-	34	6719	c.6246C>T	c.(6244-6246)ctC>ctT	p.L2082L	MYO9A_uc002atk.3_Silent_p.L877L	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2082	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTAGTTTATGAGCTTTTCCA	0.413000														145			15		0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438711	58438711	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:58438711G>T	uc002qqs.1	-	3	1130	c.838C>A	c.(838-840)Cac>Aac	p.H280N	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.H195N	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TTCCCAGTGTGAACTCGCTGA	0.433000														186			19		2.39187e-15	2.4367e-15	1	1	0
OR6K3	391114	broad.mit.edu	37	1	158687706	158687706	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:158687706G>A	uc021pbn.1	-	0	200	c.200C>T	c.(199-201)tCc>tTc	p.S67F		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R66S(1)|p.S83F(1)		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)					CTCCAGAAAGGAAAATATACT	0.408000														200			47		0	0	1	0	0
CRELD2	79174	broad.mit.edu	37	22	50315377	50315377	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:50315377C>T	uc010hal.2	+	4	695	c.560C>T	c.(559-561)tCg>tTg	p.S187L	CRELD2_uc003biz.3_Missense_Mutation_p.S187L|CRELD2_uc010haj.3_Missense_Mutation_p.S187L|CRELD2_uc003bja.2_Missense_Mutation_p.S187L|CRELD2_uc010hak.2_Missense_Mutation_p.S187L|CRELD2_uc010ham.2_Missense_Mutation_p.S187L	NM_001135101	NP_001128573	Q6UXH1	CREL2_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 2 (CRELD2), transcript variant 1, mRNA.	187						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TACTTCAGCTCGCTCCGGAAC	0.672000														124			25		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79685854	79685854	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:79685854G>A	uc001sys.3	+	6	1089	c.418G>A	c.(418-420)Gag>Aag	p.E140K	SYT1_uc001syt.3_Missense_Mutation_p.E140K|SYT1_uc001syu.3_Missense_Mutation_p.E137K|SYT1_uc001syv.3_Missense_Mutation_p.E140K	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	140	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACCCAAAGAAGAGGAGAAACT	0.373000														35			5		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110246231	110246231	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:110246231G>A	uc001tpj.2	-	1	524	c.429C>T	c.(427-429)ccC>ccT	p.P143P	TRPV4_uc001tpg.2_Silent_p.P109P|TRPV4_uc021rdp.1_Silent_p.P143P|TRPV4_uc001tph.2_Silent_p.P143P|TRPV4_uc001tpi.2_Silent_p.P143P|TRPV4_uc001tpk.2_Silent_p.P143P	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	143					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGAGGATGGGGGGCGGCTGAG	0.637000														60			11		0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56113940	56113940	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:56113940G>A	uc010rjg.2	+	0	426	c.426G>A	c.(424-426)atG>atA	p.M142I		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGATCATCATGGCAGAGAAAG	0.393000										HNSCC(65;0.19)				213			14		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641246	156641246	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:156641246C>T	uc001fpq.3	-	3	2867	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	912	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTTGACTTTCCTTGTCTACC	0.507000														85			16		0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164789376	164789376	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:164789376G>A	uc001gct.3	+	6	1528	c.1065G>A	c.(1063-1065)ggG>ggA	p.G355G	PBX1_uc010pku.2_Silent_p.G355G|PBX1_uc001gcs.3_Intron|PBX1_uc010pkv.2_Silent_p.G272G|PBX1_uc010pkw.1_Silent_p.G245G	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	355					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CACTCAATGGGGATTCTTACC	0.498000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									132			22		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657345	143657345	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:143657345C>T	uc003wds.1	+	0	326	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCATCCCATTCCAGAGCTGTG	0.517000														204			36		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141027857	141027857	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:141027857C>T	uc002tvj.1	-	85	14173	c.13201G>A	c.(13201-13203)Ggt>Agt	p.G4401S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4401	EGF-like 14.				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)		CATGTGCCACCATTGTAACAG	0.403000										TSP Lung(27;0.18)				100			12		0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183887886	183887886	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:183887886C>T	uc003fms.3	+	13	1731	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	DVL3_uc011bqw.2_Missense_Mutation_p.P514S|DVL3_uc003fmt.3_Missense_Mutation_p.P202S|DVL3_uc003fmu.3_Missense_Mutation_p.P363S	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	531					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGGGGCCGCCCCTTGGCCCAT	0.682000														92			19		0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966333	2966333	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:2966333G>A	uc021tns.1	-	0	569	c.569C>T	c.(568-570)tCc>tTc	p.S190F		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						GTGGGTGTTGGAACATGCCAG	0.527000														61			6		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240969562	240969562	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:240969562C>T	uc001hyt.2	-	7	697	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	RGS7_uc010pyh.2_Missense_Mutation_p.E357K|RGS7_uc010pyj.1_Missense_Mutation_p.E299K|RGS7_uc001hyu.2_Missense_Mutation_p.E383K|RGS7_uc009xgn.1_Missense_Mutation_p.E330K|RGS7_uc001hyv.2_Missense_Mutation_p.E383K|RGS7_uc001hyw.2_Missense_Mutation_p.E383K	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	383					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGCCATATTTCCTGAACTCTT	0.473000														111			13		0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27425705	27425705	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:27425705G>A	uc010eyv.1	-	12	1573	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S	SLC5A6_uc002rjd.3_Silent_p.S417S	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	417					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	p.S417F(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CCATCTGGGAGGAAATATAGG	0.468000														188			11		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174694	150174694	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:150174694G>A	uc003whj.3	+	4	2154	c.1824G>A	c.(1822-1824)caG>caA	p.Q608Q		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	608						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AAACAGGCCAGGCCCAGGAAA	0.463000														135			20		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241328	3241328	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:3241328C>T	uc004crg.4	-	4	2555	c.2398G>A	c.(2398-2400)Gaa>Aaa	p.E800K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	800						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)				GGGGGTACTTCTGTGCCCTTA	0.468000														68			31		0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89720741	89720741	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:89720741C>T	uc001kfb.3	+	7	1924	c.892C>T	c.(892-894)Caa>Taa	p.Q298*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	298	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.Q298*(10)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.Q298fs*9(2)|p.W274_F341del(2)|p.G165_*404del(1)|p.G165_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTATGTGATCAAGAAATCGA	0.323000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				40			14		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18552700	18552700	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:18552700G>A	uc001rdt.3	+	14	2227	c.2111G>A	c.(2110-2112)aGg>aAg	p.R704K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R745K|PIK3C2G_uc010sic.2_Missense_Mutation_p.R523K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	704					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGGGATGAAAGGACTGTTTCA	0.398000														52			16		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596654	24596654	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:24596654G>A	uc011djo.2	-	2	748	c.248C>T	c.(247-249)cCc>cTc	p.P83L	KIAA0319_uc011djp.2_Missense_Mutation_p.P38L|KIAA0319_uc003neh.1_Missense_Mutation_p.P83L|KIAA0319_uc011djq.1_Missense_Mutation_p.P74L|KIAA0319_uc011djr.1_Missense_Mutation_p.P83L	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	83	MANSC.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTCTTTGTGGGGGCAGCTCAC	0.597000														52			15		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147019247	147019247	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:147019247G>A	uc010jgo.1	-	8	1626	c.1478C>T	c.(1477-1479)gCc>gTc	p.A493V	JAKMIP2_uc003loq.1_Missense_Mutation_p.A493V|JAKMIP2_uc011dbx.1_Missense_Mutation_p.A451V|JAKMIP2_uc003lor.1_Missense_Mutation_p.A493V|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	493						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTAGGAGGGCATATGCTCT	0.463000														281			69		0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78199644	78199645	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:78199644_78199645GG>AA	uc002jyb.2	+	5	828_829	c.522_523GG>AA	c.(520-525)ctggga>ctAAga	p.G175R	SLC26A11_uc002jyc.2_Missense_Mutation_p.G175R|SLC26A11_uc002jyd.2_Missense_Mutation_p.G175R|SLC26A11_uc010dhv.2_Missense_Mutation_p.G175R	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	175						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGAACCTGCTGGGACTACAGAA	0.579000														166			53		0	0	1	0	0
UCK1	83549	broad.mit.edu	37	9	134405904	134405904	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:134405904G>A	uc004cay.3	-	1	338	c.237C>T	c.(235-237)gcC>gcT	p.A79A	UCK1_uc010mzk.3_Silent_p.A70A|UCK1_uc004cba.3_Silent_p.A79A|UCK1_uc004caz.3_Non-coding_Transcript	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	Homo sapiens uridine-cytidine kinase 1 (UCK1), transcript variant 1, mRNA.	79					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GTCCTTTCAAGGCCTTGGCCT	0.587000														90			26		0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110919263	110919263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:110919263G>A	uc002tfn.4	-	9	1130	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	NPHP1_uc002tfm.4_Nonsense_Mutation_p.R291*|NPHP1_uc002tfl.4_Nonsense_Mutation_p.R347*|NPHP1_uc002tfo.4_Nonsense_Mutation_p.R228*|NPHP1_uc010ywx.2_Nonsense_Mutation_p.R290*|NPHP1_uc010fjv.1_Nonsense_Mutation_p.R290*	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	346					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TAATTTGCTCGAAATTGATTC	0.353000														33			3		0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52369269	52369269	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:52369269C>T	uc010snn.2	+	1	389	c.312C>T	c.(310-312)atC>atT	p.I104I	ACVR1B_uc001rzl.3_Silent_p.I104I|ACVR1B_uc001rzm.3_Silent_p.I104I|ACVR1B_uc001rzn.3_Silent_p.I104I|ACVR1B_uc021qya.1_Silent_p.I52I	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	104					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GCAACAGGATCGACTTGAGGG	0.567000														62			5		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113232261	113232261	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:113232261C>T	uc001eck.3	+	3	836	c.566C>T	c.(565-567)cCa>cTa	p.P189L	MOV10_uc001ecl.2_Missense_Mutation_p.P189L|MOV10_uc001ecn.3_Missense_Mutation_p.P189L|MOV10_uc001ecm.3_Missense_Mutation_p.P129L|MOV10_uc009wgj.1_Missense_Mutation_p.P129L	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	189					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TTGCCCTGTCCACTGGGCCCC	0.557000														127			10		0	0	1	0	0
HTRA3	94031	broad.mit.edu	37	4	8293230	8293230	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:8293230G>A	uc003gla.3	+	3	1049	c.842G>A	c.(841-843)gGc>gAc	p.G281D	HTRA3_uc003gkz.3_Missense_Mutation_p.G281D	NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	281	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CAGCGGGAGGGCAGGGAGCTG	0.652000														22			7		0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78260239	78260239	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:78260239C>T	uc003kfq.3	-	3	1976	c.690_splice	c.e3+1	p.K230_splice	ARSB_uc003kfr.4_Splice_Site_p.K230_splice	NM_000046	NP_000037	P15848	ARSB_HUMAN	Homo sapiens arylsulfatase B (ARSB), transcript variant 1, mRNA.	230					lysosomal transport|lysosome organization	lysosome	N-acetylgalactosamine-4-sulfatase activity|arylsulfatase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CAAAACTTACCTTCTCTGGTG	0.348000														41			7		0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36708223	36708223	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:36708223C>T	uc002hqd.3	-	13	2851	c.2626G>A	c.(2626-2628)Ggg>Agg	p.G876R	SRCIN1_uc002hqf.1_Missense_Mutation_p.G748R|SRCIN1_uc002hqe.2_Missense_Mutation_p.G730R|SRCIN1_uc002hqg.3_Missense_Mutation_p.G182R	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	748	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCAGCTGGCCCGCTCAGCTCA	0.602000														54			7		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66944362	66944362	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:66944362G>A	uc002eql.3	-	14	2162	c.1968C>T	c.(1966-1968)ttC>ttT	p.F656F	CDH16_uc010cdy.3_Intron|CDH16_uc021tjx.1_Intron|CDH16_uc002eqm.3_Silent_p.F559F	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	656	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGGCCTTTAGGAAGTGGATCA	0.632000														106			10		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6228338	6228338	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:6228338C>T	uc001amb.2	-	2	191	c.80_splice	c.e2-1	p.E27_splice		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	27					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCTTCTTCTTCTGGAAAAATC	0.532000														98			31		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53663228	53663228	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:53663228C>T	uc001sck.2	+	2	593	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	168					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATTTGCAGCTCGGCTGAAGGC	0.582000														118			9		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325567	57325567	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:57325567C>T	uc002qnu.2	-	6	4594	c.4243G>A	c.(4243-4245)Gct>Act	p.A1415T	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.A1386T|PEG3_uc002qnv.2_Missense_Mutation_p.A1415T|PEG3_uc002qnw.2_Missense_Mutation_p.A1291T|PEG3_uc002qnx.2_Missense_Mutation_p.A1289T|PEG3_uc010etr.2_Missense_Mutation_p.A1415T	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1415	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCTCAGCAGCCTCCACTTCT	0.587000														71			16		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27192514	27192514	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:27192514A>T	uc011lno.2	+	9	1830	c.1388A>T	c.(1387-1389)tAt>tTt	p.Y463F	TEK_uc003zqi.4_Missense_Mutation_p.Y506F|TEK_uc011lnp.2_Missense_Mutation_p.Y359F|TEK_uc003zqj.1_Missense_Mutation_p.Y440F	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	506	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ACACTCAACTATTTGGAACCT	0.468000														89			25		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858007	9858007	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:9858007G>A	uc010uym.2	-	13	3704	c.3394C>T	c.(3394-3396)Cca>Tca	p.P1132S	GRIN2A_uc002czo.4_Missense_Mutation_p.P1132S|GRIN2A_uc010uyn.2_Missense_Mutation_p.P975S|GRIN2A_uc002czr.4_Missense_Mutation_p.P1132S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1132					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P1132L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACTGGGGTGGATCTAAGTGG	0.527000														138			15		0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27875154	27875154	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:27875154G>T	uc021ojw.1	-	0	3473	c.3473C>A	c.(3472-3474)gCt>gAt	p.A1158D	AHDC1_uc009vsy.3_Missense_Mutation_p.A1158D|AHDC1_uc009vsz.1_Missense_Mutation_p.A1158D	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	1158							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTCCGACACAGCCGTCTGCTG	0.582000														102			26		1.08312e-15	1.10436e-15	1	1	0
SLC22A6	9356	broad.mit.edu	37	11	62749325	62749325	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:62749325G>C	uc001nwk.3	-	3	1119	c.786C>G	c.(784-786)ttC>ttG	p.F262L	SLC22A6_uc001nwl.3_Missense_Mutation_p.F262L|SLC22A6_uc001nwj.3_Missense_Mutation_p.F262L|SLC22A6_uc001nwm.3_Missense_Mutation_p.F262L	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	262					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGAGTAGATGAAGAAGGCAA	0.617000														21			5		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905072	55905072	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:55905072C>T	uc010riz.2	-	0	123	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TGCCCAGGTTCCCTGCCATGG	0.493000														139			15		0	0	1	0	0
GLOD4	51031	broad.mit.edu	37	17	681865	681865	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:681865G>A	uc002frv.3	-	2	258	c.182C>T	c.(181-183)tCa>tTa	p.S61L	GLOD4_uc002frt.3_5'Flank|GLOD4_uc002fru.3_Intron|GLOD4_uc010vqc.2_Missense_Mutation_p.S37L	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN	Homo sapiens glyoxalase domain containing 4 (GLOD4), mRNA.	61						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TACTCACTTTGAGAAACTGTC	0.428000														12			7		0	0	1	0	0
BSDC1	55108	broad.mit.edu	37	1	32842311	32842311	+	Silent	SNP	T	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:32842311T>A	uc001bvi.3	-	8	806	c.759A>T	c.(757-759)ccA>ccT	p.P253P	BSDC1_uc001bvh.4_Silent_p.P236P|BSDC1_uc010ohg.2_Silent_p.P253P|BSDC1_uc010ohh.2_Silent_p.P180P|BSDC1_uc010ohi.2_Silent_p.P141P|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Silent_p.P132P			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	236							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTGCCTCTTTTGGAGATATGG	0.512000														35			16		0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151261177	151261177	+	Silent	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:151261177A>G	uc001exq.3	+	2	2387	c.2289A>G	c.(2287-2289)ggA>ggG	p.G763G	ZNF687_uc009wmo.3_Silent_p.G763G|ZNF687_uc009wmp.3_Silent_p.G763G	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCGTGTAGGATACAGGTGCC	0.567000														118			18		0	0	1	0	0
PNKP	11284	broad.mit.edu	37	19	50370393	50370393	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:50370393G>A	uc002pqj.3	-	1	179	c.69C>T	c.(67-69)ttC>ttT	p.F23F	PNKP_uc002pqg.3_5'Flank|PNKP_uc002pqi.3_5'UTR|PNKP_uc021uxx.1_Silent_p.F23F	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA.	23					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCGAGGGCAGGAAGATGGGGG	0.711000								Other BER factors						43			11		0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51705264	51705264	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:51705264C>T	uc010lxy.1	+	19	1800	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	SNTG1_uc003xqs.1_Missense_Mutation_p.H477Y|SNTG1_uc010lxz.1_Missense_Mutation_p.H440Y|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	477					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.L476L(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGCTGTTCTTCACTGCATTCA	0.368000														141			24		0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132071617	132071617	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:132071617C>T	uc010htp.2	+	8	1008	c.918C>T	c.(916-918)ctC>ctT	p.L306L	ACPP_uc003eon.3_Silent_p.L273L|ACPP_uc003eop.4_Silent_p.L306L	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	306						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ACAACGGACTCCTTCCTCCCT	0.433000														102			19		0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20045506	20045506	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:20045506C>T	uc002non.3	+	3	1918	c.1742C>T	c.(1741-1743)tCt>tTt	p.S581F		NM_031218	NP_112495	P35789	ZNF93_HUMAN	Homo sapiens zinc finger protein 93 (ZNF93), mRNA.	581						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GCAACCCTTTCTTCACATAAG	0.378000														53			15		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38851670	38851670	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:38851670G>A	uc021yzh.1	+	55	8264	c.8155G>A	c.(8155-8157)Gtg>Atg	p.V2719M	DNAH8_uc003ooe.2_Missense_Mutation_p.V2502M	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAAAGCTACGTGGATAAGCG	0.363000														94			16		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183714469	183714469	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:183714469G>A	uc003ivd.1	+	24	6719	c.6644G>A	c.(6643-6645)cGa>cAa	p.R2215Q		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2215					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTTCTAACTCGAGTTTACAGT	0.483000														44			11		0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12010487	12010487	+	Missense_Mutation	SNP	T	C	C	rs144702307		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:12010487T>C	uc010obb.2	+	4	630	c.517T>C	c.(517-519)Ttc>Ctc	p.F173L	PLOD1_uc001atm.3_Missense_Mutation_p.F126L	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	126					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCAGGTGGTCTTCTCTGCTGA	0.622000														67			6		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7649726	7649726	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:7649726C>T	uc001qsz.3	-	4	910	c.782G>A	c.(781-783)gGa>gAa	p.G261E	CD163_uc001qta.3_Missense_Mutation_p.G261E|CD163_uc009zfw.2_Missense_Mutation_p.G261E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	261					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						CAGATCTGCTCCCTCTGTAAC	0.448000														132			33		0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16067851	16067851	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:16067851C>T	uc003jfo.2	-	3	1151	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	MARCH11_uc010itw.1_Missense_Mutation_p.R69Q	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	313						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ATTCACAGCTCGCCAGCGCTT	0.423000														27			7		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36156082	36156082	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:36156082C>T	uc004ddk.1	+	8	1239	c.1053C>T	c.(1051-1053)atC>atT	p.I351I		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	351						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						CAGATGTTATCCCTTCTGAGA	0.333000														19			15		0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47850197	47850197	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:47850197C>T	uc002xuh.3	+	10	1378	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	439						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCAGGAGTTCATCCGGATCC	0.577000														127			26		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122261757	122261757	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:122261757G>A	uc022akp.1	-	4	1304	c.882C>T	c.(880-882)ccC>ccT	p.P294P	CADPS2_uc003vkg.4_5'UTR|CADPS2_uc022akq.1_Silent_p.P294P|CADPS2_uc010lkq.3_Silent_p.P294P|CADPS2_uc022akr.1_Silent_p.P294P	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	294					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTATAAATTTGGGGAATTTTC	0.274000														27			6		0	0	1	0	0
PHF7	51533	broad.mit.edu	37	3	52456844	52456844	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:52456844G>A	uc003ddy.3	+	9	1672	c.866G>A	c.(865-867)aGa>aAa	p.R289K	PHF7_uc003ddz.3_Missense_Mutation_p.R250K	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.	289						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TCCTCTCTTAGATCTAACAGT	0.577000														171			38		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72064629	72064629	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:72064629G>A	uc004ahh.2	-	9	2328	c.2052C>T	c.(2050-2052)atC>atT	p.I684I		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	684	PDZ 1.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGTTGGCAATGATCACGGTGG	0.517000														104			19		0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37618601	37618601	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:37618601C>T	uc010cvv.3	+	0	863	c.277C>T	c.(277-279)Cga>Tga	p.R93*	CDK12_uc010wef.1_Nonsense_Mutation_p.R93*|CDK12_uc002hrw.4_Nonsense_Mutation_p.R93*	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	93					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAAACTAGACCGAAGGGAGAA	0.522000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				51			8		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179718195	179718195	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179718195C>T	uc002une.2	-	19	3335	c.3217G>A	c.(3217-3219)Gcc>Acc	p.A1073T	CCDC141_uc002unf.1_Missense_Mutation_p.A552T	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	498							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGGTCAGTGGCCTCCTGAATC	0.438000														136			15		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48314304	48314304	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:48314304C>T	uc003toq.2	+	16	5065	c.5041C>T	c.(5041-5043)Cag>Tag	p.Q1681*	ABCA13_uc010kyr.2_Nonsense_Mutation_p.Q1184*|ABCA13_uc022acp.1_Nonsense_Mutation_p.Q180*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1681					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTAGTGGATCAGCTTGAACA	0.393000														129			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486322	179486322	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179486322C>T	uc021vsy.1	-	193	37750	c.37525G>A	c.(37525-37527)Gaa>Aaa	p.E12509K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E6204K|TTN_uc021vta.1_Missense_Mutation_p.E6137K|TTN_uc021vtb.1_Missense_Mutation_p.E6012K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13436	Ig-like 83.						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)			GTCAGTATTTCATATCTTCCT	0.453000														95			9		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105263863	105263863	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:105263863C>T	uc003yls.3	+	27	4160	c.3919C>T	c.(3919-3921)Cac>Tac	p.H1307Y	RIMS2_uc003ylp.3_Missense_Mutation_p.H1289Y|RIMS2_uc003ylq.3_Missense_Mutation_p.H1103Y|RIMS2_uc003ylr.3_Missense_Mutation_p.H1128Y	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1351	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCGCATGGATCACAAATCTTT	0.398000										HNSCC(12;0.0054)				152			24		0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52131448	52131448	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:52131448G>A	uc003pan.1	-	14	2229	c.2119C>T	c.(2119-2121)Ccc>Tcc	p.P707S	MCM3_uc011dwu.1_Missense_Mutation_p.P661S	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	707					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					AAGTCATAGGGGTCGTATGAA	0.468000														375			87		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200960848	200960848	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:200960848C>T	uc001gvs.2	-	16	2708	c.2391G>A	c.(2389-2391)caG>caA	p.Q797Q	KIF21B_uc009wzl.2_Silent_p.Q797Q|KIF21B_uc001gvr.2_Silent_p.Q797Q|KIF21B_uc010ppn.2_Silent_p.Q797Q	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	797					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GAGCTCGGATCTGAAACTGTG	0.617000														32			7		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173042	126173042	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:126173042G>A	uc003vlr.2	-	7	2705	c.2394C>T	c.(2392-2394)atC>atT	p.I798I	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.I798I|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	798					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AAAAGATGGGGATGAAAGCTA	0.388000										HNSCC(24;0.065)				50			13		0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27168487	27168487	+	Missense_Mutation	SNP	C	T	T	rs145238225		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:27168487C>T	uc003xfl.1	-	0	348	c.266G>A	c.(265-267)gGc>gAc	p.G89D	PTK2B_uc003xfn.2_5'Flank|TRIM35_uc010lup.1_Missense_Mutation_p.G89D|TRIM35_uc003xfm.1_Non-coding_Transcript	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	89					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	p.E88V(1)		breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CCAGCGCGCGCCCTCGGCCTC	0.677000														22			6		0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28202874	28202874	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:28202874C>T	uc001zbh.4	-	15	1754	c.1644G>A	c.(1642-1644)aaG>aaA	p.K548K	OCA2_uc010ayv.3_Silent_p.K524K	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	548					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding	p.K548N(4)|p.K548K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GAATCTCGTGCTTCAGTTCTG	0.612000									Oculocutaneous Albinism					43			4		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	19015505	19015505	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:19015505G>A	uc003sui.3	+	23	3140	c.3099G>A	c.(3097-3099)gaG>gaA	p.E1033E	HDAC9_uc003sue.3_Silent_p.E1030E|HDAC9_uc003suj.3_Silent_p.E989E|HDAC9_uc003suk.3_Silent_p.E278E	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	0					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGCAAGAGGAGACAGAGACCG	0.522000														63			9		0	0	1	0	0
MED6	10001	broad.mit.edu	37	14	71067384	71067384	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:71067384C>T	uc010tth.2	-	1	1	c.-29_splice	c.e1-1		MED6_uc001xmf.3_Splice_Site|MED6_uc010tti.2_Splice_Site|MED6_uc001xmg.1_Splice_Site|MED6_uc010ttj.2_Splice_Site	NM_005466	NP_005457	O75586	MED6_HUMAN	Homo sapiens mediator complex subunit 6 (MED6), mRNA.						positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		GGTTCTCTTTCCGGCGCAAAG	0.547000														27			7		0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17271887	17271887	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:17271887G>A	uc001iou.2	+	1	879	c.466G>A	c.(466-468)Gag>Aag	p.E156K	BC078172_uc001iot.1_Non-coding_Transcript	NM_003380	NP_003371	P08670	VIME_HUMAN	Homo sapiens vimentin (VIM), mRNA.	156	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGATGCGGGAGCTGCGCCG	0.642000														16			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587534	179587534	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179587534C>T	uc021vsy.1	-	72	18585	c.18360G>A	c.(18358-18360)cgG>cgA	p.R6120R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.R2781R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7047	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)			CAGGAGTTGGCCGTAATTTGG	0.428000														38			5		0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96273426	96273426	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:96273426T>G	uc001tek.2	-	11	1372	c.1138A>C	c.(1138-1140)Aaa>Caa	p.K380Q		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	380										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTACGTTTTATCCTGTATA	0.373000														46			3		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152730297	152730297	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:152730297C>T	uc021zhb.1	-	41	6669	c.6446G>A	c.(6445-6447)gGa>gAa	p.G2149E	SYNE1_uc003qot.4_Missense_Mutation_p.G2156E|SYNE1_uc003qou.4_Missense_Mutation_p.G2149E|SYNE1_uc010kjb.1_Missense_Mutation_p.G2132E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2149					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAAGTGTTTTCCTTTGCTGGT	0.358000										HNSCC(10;0.0054)				50			9		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095896	124095896	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:124095896C>T	uc010saf.2	+	0	499	c.499C>T	c.(499-501)Ctt>Ttt	p.L167F		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	167						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TTTAGGCATCCTTGGATCTAC	0.443000														306			39		0	0	1	0	0
ZNF275	10838	broad.mit.edu	37	X	152612854	152612854	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:152612854C>T	uc011myn.2	+	1	1424	c.522C>T	c.(520-522)ttC>ttT	p.F174F	ZNF275_uc004fhg.2_Silent_p.F237F|ZNF275_uc022cht.1_Silent_p.F174F|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	237						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGCCTTTCGCCTGCAAGG	0.577000														39			23		0	0	1	0	0
FAM19A5	25817	broad.mit.edu	37	22	49042449	49042449	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:49042449C>T	uc003bim.4	+	1	270	c.153C>T	c.(151-153)gaC>gaT	p.D51D	FAM19A5_uc003bio.4_Silent_p.D44D	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 (FAM19A5), transcript variant 1, mRNA.	51						extracellular region|integral to membrane		p.D44D(1)|p.D51D(1)		large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		TGACCTTGGACCGGGACAGCA	0.677000														64			5		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262420	158262420	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:158262420C>T	uc001fru.3	+	3	937	c.645C>T	c.(643-645)agC>agT	p.S215S	CD1C_uc021pbl.1_Non-coding_Transcript	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	215	Ig-like.				T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.P214P(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTCGCCCCAGCCTTGGGTCTG	0.527000														60			17		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38508285	38508285	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:38508285G>A	uc003auy.1	-	16	2440	c.2304C>T	c.(2302-2304)atC>atT	p.I768I	PLA2G6_uc003auz.1_Silent_p.I714I|PLA2G6_uc003ava.1_Silent_p.I768I|PLA2G6_uc003avb.2_Silent_p.I714I|BAIAP2L2_uc003auw.3_5'Flank|PLA2G6_uc003aux.1_Missense_Mutation_p.H160Y	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	768					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CATCCAGCATGATGTCCGTCC	0.622000														53			12		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470537	10470537	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:10470537G>A	uc003wtc.3	-	3	1300	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	357					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCCCAGAACGGGGTCTTCCC	0.677000														94			22		0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7193602	7193602	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:7193602G>A	uc002gfq.2	-	4	769	c.712C>T	c.(712-714)Ccc>Tcc	p.P238S		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	238	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GGAGGCCGGGGGCCTCGCACA	0.622000														182			49		0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48327804	48327804	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:48327804C>T	uc010dpa.3	-	4	691	c.542G>A	c.(541-543)tGg>tAg	p.W181*	MRO_uc010xdn.2_Intron|MRO_uc002lew.4_Nonsense_Mutation_p.W167*|MRO_uc010dpb.3_Intron|MRO_uc010dpc.3_Intron|MRO_uc002lex.4_Nonsense_Mutation_p.W167*	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	167						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		AAATTTTTTCCATTTCCTCCC	0.468000														89			12		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73680711	73680711	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:73680711T>C	uc002sje.1	+	7	7165	c.7054T>C	c.(7054-7056)Ttt>Ctt	p.F2352L	ALMS1_uc002sjf.1_Missense_Mutation_p.F2310L|ALMS1_uc002sjg.3_Missense_Mutation_p.F1740L|ALMS1_uc002sjh.1_Missense_Mutation_p.F1740L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2352					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAATTGGGAGTTTATTAGTTC	0.433000														54			7		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22194146	22194146	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:22194146G>A	uc003svg.3	-	16	1567	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	RAPGEF5_uc011jyl.1_Silent_p.I99I	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	268	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CGACTTTTAGGATCTCTTGGG	0.428000														53			19		0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15484782	15484782	+	Silent	SNP	C	T	T	rs114906270	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:15484782C>T	uc002nav.3	-	3	256	c.186G>A	c.(184-186)aaG>aaA	p.K62K	AKAP8_uc010dzy.3_5'Flank|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_Intron	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	62					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						CATCATTGGCCTTGGCGGCCT	0.607000														34			6		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48807854	48807854	+	Missense_Mutation	SNP	C	T	T	rs144911860		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:48807854C>T	uc002rwp.2	+	1	196	c.82C>T	c.(82-84)Cct>Tct	p.P28S	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.P28S|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.P28S|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.P28S|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.P28S	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	28					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.P28S(3)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGAATTTTCCTCTGGAGAA	0.473000														57			14		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153556	133153556	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:133153556G>A	uc003ytj.3	-	9	1510	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	KCNQ3_uc003yti.3_Missense_Mutation_p.R309W|KCNQ3_uc010mdt.3_Missense_Mutation_p.R429W	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	429					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R429L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGGCGAACCCGATCCAAGAGA	0.413000														53			11		0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681006	3681006	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:3681006G>A	uc001lye.1	+	2	358	c.257G>A	c.(256-258)tGg>tAg	p.W86*	ART1_uc009yeb.1_Nonsense_Mutation_p.W86*	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	86					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGCAGCCAATGGCAGGAGCGT	0.647000														34			5		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664489	169664489	+	RNA	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:169664489C>T	uc011bpp.2	-	1		c.3314G>A								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		CATACTTTTTCCTCTGCAAGG	0.522000														85			18		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52403858	52403858	+	Silent	SNP	C	T	T	rs61753444		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:52403858C>T	uc011bef.2	+	37	6222	c.5961C>T	c.(5959-5961)ttC>ttT	p.F1987F		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1987	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCATGATGTTCGAGGTGCAAG	0.622000														67			11		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128227	152128228	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:152128227_152128228GG>AA	uc001ezs.1	-	2	1412_1413	c.1347_1348CC>TT	c.(1345-1350)tcccac>tcTTac	p.H450Y		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	450	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGACCATAGTGGGAATTCTGGC	0.540000														701			156		0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116225054	116225054	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:116225054C>T	uc001efv.1	+	4	1153	c.882C>T	c.(880-882)ctC>ctT	p.L294L	VANGL1_uc009wgy.1_Silent_p.L292L|VANGL1_uc021ose.1_Silent_p.L294L	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	294					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ACCCAAACCTCCTAACAGCCT	0.443000														68			16		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18653121	18653121	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:18653121G>A	uc002gul.3	+	2	989	c.757G>A	c.(757-759)Gat>Aat	p.D253N	FBXW10_uc002guj.3_Missense_Mutation_p.D253N|FBXW10_uc002guk.3_Missense_Mutation_p.D253N|FBXW10_uc010cqh.2_Missense_Mutation_p.D253N	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	253										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GCCAGGGTACGATCCCTGCAA	0.483000														169			11		0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142030480	142030480	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:142030480G>A	uc003eus.3	-	41	5061	c.4994C>T	c.(4993-4995)tCt>tTt	p.S1665F	XRN1_uc010huu.3_Missense_Mutation_p.S1119F|XRN1_uc003eut.3_Missense_Mutation_p.S1652F|XRN1_uc003euu.3_Missense_Mutation_p.S1653F	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1665					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding	p.S1665Y(2)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AACTTGAAAAGAAGATGCAGG	0.423000														96			19		0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96180332	96180332	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:96180332G>A	uc001yfc.4	-	0	202	c.72C>T	c.(70-72)ttC>ttT	p.F24F	BX247990_uc001yfd.1_5'Flank|TCL1A_uc001yfb.4_Silent_p.F24F	NM_001098725	NP_068801	P56279	TCL1A_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA.	24					multicellular organismal development	endoplasmic reticulum|microsome		p.K23N(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCAAATACACGAACTTCTCCC	0.657000			T	TRA@	T-CLL									103			24		0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944934	55944934	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:55944934G>A	uc010rjb.2	+	0	841	c.841G>A	c.(841-843)Ggg>Agg	p.G281R		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTATACGCTAGGGATTCCCAT	0.388000														55			6		0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108330161	108330161	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:108330161C>T	uc003dxd.3	+	3	665	c.243C>T	c.(241-243)tcC>tcT	p.S81S	DZIP3_uc003dxf.1_Silent_p.S81S|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Silent_p.S81S	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	81					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAGATTTTTCCTTCCAAACTA	0.323000														54			15		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39871143	39871144	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:39871143_39871144CC>TT	uc010lwy.1	+	9	1060_1061	c.818_819CC>TT	c.(817-819)ccc>cTT	p.P273L	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.P14L|IDO2_uc003xnp.1_Missense_Mutation_p.P14L	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	260					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TCCCAAGAGCCCCTGAAATACT	0.500000														91			18		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161309653	161309653	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:161309653C>T	uc010jiw.3	+	7	1117	c.649C>T	c.(649-651)Cag>Tag	p.Q217*	GABRA1_uc010jix.3_Nonsense_Mutation_p.Q217*|GABRA1_uc010jiy.3_Nonsense_Mutation_p.Q217*|GABRA1_uc003lyx.4_Nonsense_Mutation_p.Q217*|GABRA1_uc010jiz.3_Nonsense_Mutation_p.Q217*|GABRA1_uc010jja.3_Nonsense_Mutation_p.Q217*|GABRA1_uc010jjb.3_Nonsense_Mutation_p.Q217*	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	217					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.Q217K(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ACGTCTAAACCAGTATGACCT	0.408000														59			8		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161281227	161281227	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:161281227G>A	uc010jiw.3	+	3	606	c.138G>A	c.(136-138)ttG>ttA	p.L46L	GABRA1_uc010jix.3_Silent_p.L46L|GABRA1_uc010jiy.3_Silent_p.L46L|GABRA1_uc003lyx.4_Silent_p.L46L|GABRA1_uc010jiz.3_Silent_p.L46L|GABRA1_uc010jja.3_Silent_p.L46L|GABRA1_uc010jjb.3_Silent_p.L46L	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	46					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCAGGATTTTGGACAGACTCC	0.363000														102			12		0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7852463	7852463	+	Silent	SNP	C	T	T	rs142142775		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:7852463C>T	uc002gjp.3	+	18	3590	c.2640C>T	c.(2638-2640)atC>atT	p.I880I	CNTROB_uc002gjq.3_Silent_p.I858I|CNTROB_uc002gjr.3_Silent_p.I761I	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	858	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TGGGTGAGATCCCCCGGAAAG	0.582000														107			12		0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57011995	57011995	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:57011995T>C	uc003pdm.1	+	9	1336	c.1112T>C	c.(1111-1113)tTt>tCt	p.F371S	ZNF451_uc003pdl.3_Missense_Mutation_p.F371S|ZNF451_uc003pdn.1_Missense_Mutation_p.F371S|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.F371S	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AATCAAGTCTTTGTGGATGAA	0.423000														87			19		0	0	1	0	0
MGAT4A	11320	broad.mit.edu	37	2	99291500	99291500	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:99291500C>A	uc002sze.3	-	3	715	c.401G>T	c.(400-402)gGa>gTa	p.G134V	MGAT4A_uc010fil.3_5'UTR	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA.	134					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|extracellular region|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AAACATACCTCCTGTTCTTCC	0.358000														51			4		1.024e-07	1.03701e-07	1	1	0
HRNR	388697	broad.mit.edu	37	1	152187841	152187841	+	Silent	SNP	G	A	A	rs144489730	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:152187841G>A	uc001ezt.1	-	2	6340	c.6264C>T	c.(6262-6264)tcC>tcT	p.S2088S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2088					keratinization		calcium ion binding|protein binding	p.S2088C(1)		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)			AAGACCGACCGGAGCCAGACC	0.622000														109			22		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24300070	24300070	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:24300070C>G	uc003xeb.3	+	1	250	c.137C>G	c.(136-138)aCc>aGc	p.T46S	ADAM7_uc003xea.1_Missense_Mutation_p.T46S	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	46					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTGGACACACCCATGATGAT	0.408000														159			35		0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99363184	99363184	+	Silent	SNP	C	T	T	rs56262026	by1000genomes	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:99363184C>T	uc003htw.4	+	14	1933	c.1743C>T	c.(1741-1743)gtC>gtT	p.V581V	RAP1GDS1_uc003htx.4_Silent_p.V580V|RAP1GDS1_uc003htv.4_Silent_p.V580V|RAP1GDS1_uc003htz.4_Silent_p.V531V|RAP1GDS1_uc003hty.4_Silent_p.V532V|RAP1GDS1_uc003hua.4_Silent_p.V489V	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA.	580							GTPase activator activity|binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTCTAGATGTCGTATCCAAAC	0.423000			T	NUP98	T-ALL									34			12		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47178371	47178371	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:47178371C>T	uc001rpi.2	-	6	846	c.447G>A	c.(445-447)ccG>ccA	p.P149P	SLC38A4_uc001rpj.2_Silent_p.P149P|SLC38A4_uc009zkl.2_Silent_p.P149P	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	149					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.P149P(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CAATTTTTCCCGGCCATCCAA	0.333000														41			9		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34640478	34640478	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:34640478C>T	uc010ucc.2	+	2	791	c.409C>T	c.(409-411)Ctt>Ttt	p.L137F	C15orf55_uc010ucd.2_Missense_Mutation_p.L127F|C15orf55_uc001zif.3_Missense_Mutation_p.L109F	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	109	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GAACTTTATCCTTACTCAGAC	0.562000			T	"""BRD3, BRD4"""	lethal midline carcinoma									81			11		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860935	16860935	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:16860935C>T	uc002neu.4	+	5	1904	c.1482C>T	c.(1480-1482)ccC>ccT	p.P494P	NWD1_uc002net.4_Silent_p.P359P|NWD1_uc002nev.4_Silent_p.P288P|NWD1_uc021uqg.1_Silent_p.P359P	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	494	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						AGGTGAAGCCCCTTTCCGGAA	0.637000														87			10		0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53215257	53215257	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:53215257C>T	uc003dgl.3	+	4	703	c.350C>T	c.(349-351)tCt>tTt	p.S117F	PRKCD_uc003dgm.3_Missense_Mutation_p.S117F|PRKCD_uc003dgn.2_Missense_Mutation_p.S117F|PRKCD_uc010hmt.1_5'Flank	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	117					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GTGTTGATGTCTGTTCAGTAT	0.617000														42			10		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086610	100086610	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:100086610G>A	uc003uvd.1	+	3	1425	c.1266G>A	c.(1264-1266)cgG>cgA	p.R422R	NYAP1_uc003uve.1_Silent_p.R204R	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	422	Pro-rich.																GGGGGGAGCGGGAGCTCCCCA	0.756000														3			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086743	9086743	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:9086743C>T	uc002mkp.3	-	0	5276	c.5072G>A	c.(5071-5073)aGa>aAa	p.R1691K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1691	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						GCTGATGCTTCTTCCTGGAGC	0.483000														152			18		0	0	1	0	0
CD40	958	broad.mit.edu	37	20	44750538	44750538	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:44750538G>A	uc002xrg.1	+	2	207	c.130_splice	c.e2+1	p.G44_splice	CD40_uc002xrf.1_Splice_Site_p.G44_splice|CD40_uc002xrh.1_Splice_Site_p.G44_splice|CD40_uc002xrj.1_Splice_Site|CD40_uc002xrk.1_Splice_Site	NM_001250	NP_001241	P25942	TNR5_HUMAN	Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA.	44					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of endothelial cell apoptosis|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	TGCCAGCCAGGTGAGATGCCA	0.478000									Immune Deficiency with Hyper-IgM					77			12		0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160851014	160851014	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:160851014G>A	uc001fxc.3	-	4	610	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	165	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCTCAGCAGGGAGCTGTTTCT	0.567000														169			40		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179364291	179364291	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:179364291C>T	uc001gmo.3	+	10	1450	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y	AXDND1_uc001gmn.2_Missense_Mutation_p.H143Y|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.H313Y	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	355										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGAAAAAGCCCACAAGGATTT	0.353000														192			35		0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1119535	1119535	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:1119535G>A	uc002lrk.4	-	12	1591	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	SBNO2_uc002lrj.4_Silent_p.F394F|SBNO2_uc010dse.3_Silent_p.F444F|SBNO2_uc010dsf.3_Silent_p.F394F	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	451					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TGGCGTGCAGGAACTCCTCAA	0.647000														18			3		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6030283	6030283	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:6030283C>T	uc001qnm.2	-	2	517	c.445G>A	c.(445-447)Gag>Aag	p.E149K	ANO2_uc021qtt.1_Missense_Mutation_p.E153K	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	153						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTCCTCTCCTCCTCCAGGGCA	0.617000														83			24		0	0	1	0	0
ZNF238	10472	broad.mit.edu	37	1	244218222	244218222	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:244218222C>T	uc001iad.4	+	1	1319	c.1146C>T	c.(1144-1146)ccC>ccT	p.P382P	ZNF238_uc001iae.3_Silent_p.P373P|ZNF238_uc001iaf.1_3'UTR	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	373	Interaction with DNMT3A.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			TCATGTGCCCCCTGTGCAACA	0.652000														73			15		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900733	51900733	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:51900733G>A	uc002iua.2	+	0	495	c.339G>A	c.(337-339)acG>acA	p.T113T	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	113					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.T113M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTACCGCCACGAAATGGGTTG	0.592000														129			36		0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53358364	53358364	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:53358364G>A	uc002ehb.3	+	37	8415	c.8251G>A	c.(8251-8253)Gaa>Aaa	p.E2751K	CHD9_uc002egy.3_Missense_Mutation_p.E2735K|CHD9_uc002ehc.3_Missense_Mutation_p.E2736K|CHD9_uc002ehf.3_Missense_Mutation_p.E1849K|CHD9_uc002ehg.2_Missense_Mutation_p.E1866K|CHD9_uc010cbw.3_Missense_Mutation_p.E817K	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2751					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TAAGGAGTCAGAAGGAAAAAC	0.453000														56			11		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113281570	113281570	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:113281570G>A	uc001pnz.3	-	6	1532	c.1211C>T	c.(1210-1212)cCg>cTg	p.P404L	DRD2_uc010rwv.2_Missense_Mutation_p.P403L|DRD2_uc001poa.4_Missense_Mutation_p.P404L|DRD2_uc001pob.4_Missense_Mutation_p.P375L	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	404					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CAGGACAGGCGGGATGTTGCA	0.562000														124			17		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43702471	43702471	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:43702471G>A	uc011aev.2	+	5	783	c.709G>A	c.(709-711)Gcc>Acc	p.A237T	ABCG1_uc002zam.3_Missense_Mutation_p.A204T|ABCG1_uc002zan.3_Missense_Mutation_p.A228T|ABCG1_uc002zao.3_Missense_Mutation_p.A223T|ABCG1_uc002zap.3_Missense_Mutation_p.A226T|ABCG1_uc002zaq.3_Missense_Mutation_p.A226T|ABCG1_uc002zar.3_Missense_Mutation_p.A237T	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	226	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CAAGCGCCTGGCCATCGCGCT	0.617000														57			8		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105920848	105920848	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:105920848C>T	uc001kxw.3	-	26	3603	c.3487G>A	c.(3487-3489)Gat>Aat	p.D1163N	WDR96_uc009xxq.3_Missense_Mutation_p.D471N	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1163										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCTCATAATCTTTGAATTGT	0.333000														19			3		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615075	55615075	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:55615075G>A	uc010spf.2	+	0	267	c.267G>A	c.(265-267)agG>agA	p.R89R		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89W(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TGTCCCCAAGGAAAATTATCT	0.403000														135			28		0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136083586	136083586	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:136083586C>T	uc004ccz.3	-	2	253	c.211G>A	c.(211-213)Gag>Aag	p.E71K	OBP2B_uc010nad.3_Non-coding_Transcript|OBP2B_uc011mcy.2_Missense_Mutation_p.E3K	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN	Homo sapiens odorant binding protein 2B (OBP2B), mRNA.	71					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CACCTATCCTCCCTCCTGGAA	0.627000														50			8		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24359078	24359078	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:24359078C>T	uc003xeb.3	+	19	2310	c.2197C>T	c.(2197-2199)Cat>Tat	p.H733Y	ADAM7_uc003xec.3_Missense_Mutation_p.H505Y	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	733					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GCCAGAAATTCATTTCCTAAA	0.388000														61			23		0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56403215	56403215	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:56403215G>A	uc002eiy.3	-	10	1610	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S	AMFR_uc002eix.3_Missense_Mutation_p.P103S	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	469	CUE.				ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GGAACCTGGGGAAACATCTCT	0.443000														47			5		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17547970	17547970	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:17547970C>T	uc001mnf.3	-	7	707	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	USH1C_uc001mne.3_Missense_Mutation_p.G200S|USH1C_uc009yhb.3_Missense_Mutation_p.G200S|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.G164S	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	200					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCAGGGGAGCCCAGGCTGCCT	0.607000														37			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074184	9074184	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:9074184G>A	uc002mkp.3	-	2	13466	c.13262C>T	c.(13261-13263)cCa>cTa	p.P4421L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4423	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						CATAAAATCTGGAGTCACAGC	0.498000														145			35		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42832784	42832784	+	Missense_Mutation	SNP	C	T	T	rs149708370		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:42832784C>T	uc003osn.1	+	12	2991	c.2840C>T	c.(2839-2841)tCg>tTg	p.S947L	KIAA0240_uc011duw.1_Missense_Mutation_p.S947L|KIAA0240_uc003osp.1_Missense_Mutation_p.S947L	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	947										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			TCATCCAGATCGGATCATGGT	0.532000														75			20		0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89449025	89449026	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:89449025_89449026GG>AA	uc021opo.1	-	0	484_485	c.484_485CC>TT	c.(484-486)cct>TTt	p.P162F	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.P162F|RBMXL1_uc001dms.3_Missense_Mutation_p.P162F	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	162							RNA binding|nucleotide binding										AGATCTCTTAGGAGAAGGACCC	0.495000														122			28		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182360647	182360647	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:182360647A>C	uc002unu.3	+	13	2286	c.1523A>C	c.(1522-1524)gAa>gCa	p.E508A	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	508					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAGGGCAAGGAAGTTCCAGGT	0.438000														127			14		0	0	1	0	0
PHF15	23338	broad.mit.edu	37	5	133914515	133914515	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:133914515G>A	uc003kzk.2	+	11	2099	c.2061G>A	c.(2059-2061)aaG>aaA	p.K687K	PHF15_uc011cxt.1_Silent_p.K671K|PHF15_uc003kzm.2_Silent_p.K628K|PHF15_uc003kzn.2_3'UTR|PHF15_uc003kzo.1_Silent_p.K627K	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	Homo sapiens PHD finger protein 15 (PHF15), mRNA.	627	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCCCAAGAAGACCTGGGGCC	0.657000														48			9		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10996626	10996626	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:10996626G>A	uc002daj.4	+	7	876	c.743G>A	c.(742-744)gGa>gAa	p.G248E	CIITA_uc002dai.4_Missense_Mutation_p.G247E|CIITA_uc002dak.4_Missense_Mutation_p.G198E|CIITA_uc002dag.2_Missense_Mutation_p.G247E|CIITA_uc002dah.2_Missense_Mutation_p.G199E|CIITA_uc010bup.1_Missense_Mutation_p.G247E	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	247					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCTGAGGCTGGAACAGGGGTC	0.592000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									80			21		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546821	11546821	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:11546821C>T	uc010shk.1	-	2	226	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGTTGCCTCCTTGTGGGGG	0.592000														244			57		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699182	60699182	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:60699182C>T	uc001nqi.3	+	5	1234	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	TMEM132A_uc001nqj.3_Silent_p.F346F|TMEM132A_uc001nqk.3_Silent_p.F359F|TMEM132A_uc001nql.1_Silent_p.F359F	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	346						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGTCTGAGTTCCTATGGGTGG	0.582000														139			38		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151123951	151123951	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:151123951G>A	uc004ffi.3	-	7	1080	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	342					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.F229L(1)|p.F342L(1)		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)					TGGCGATATAGAAATCCAAGG	0.493000														42			30		0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132352018	132352018	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:132352018G>A	uc004exb.1	-	0	359	c.270C>T	c.(268-270)tcC>tcT	p.S90S		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	90						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GTGAGGAGTAGGAATGCTGGT	0.552000														59			32		0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40042492	40042492	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:40042492A>T	uc002hyg.3	-	17	2108	c.1945T>A	c.(1945-1947)Tcc>Acc	p.S649T	ACLY_uc002hyh.3_Missense_Mutation_p.S639T|ACLY_uc002hyi.3_Missense_Mutation_p.S703T|ACLY_uc010wfx.2_Missense_Mutation_p.S693T|ACLY_uc010wfy.2_Missense_Mutation_p.S378T	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	649					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TACAGTTTGGAGGCCAGGATG	0.562000														57			16		0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121502739	121502739	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:121502739C>T	uc003ypc.1	+	12	1421	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	459					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CCACATTTTTCTGGGGAGCAG	0.333000														51			9		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221458	55221458	+	RNA	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:55221458G>A	uc002qgs.1	+	0		c.1858G>A			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GTACAAGGAGGGGGGACATGA	0.657000														40			13		0	0	1	0	0
SOX1	6656	broad.mit.edu	37	13	112722185	112722185	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:112722185G>A	uc001vsb.1	+	0	273	c.213G>A	c.(211-213)caG>caA	p.Q71Q		NM_005986	NP_005977	O00570	SOX1_HUMAN	Homo sapiens SRY (sex determining region Y)-box 1 (SOX1), mRNA.	71					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		AGATGGCCCAGGAGAACCCCA	0.682000														32			7		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8615459	8615459	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:8615459C>T	uc002mkg.3	-	8	1029	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	297	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCACACTCTCCACTCGGGCGT	0.617000														94			15		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062196	216062196	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:216062196G>A	uc001hku.1	-	40	8182	c.7795C>T	c.(7795-7797)Cag>Tag	p.Q2599*		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2599	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTTCTACCTGAAACTTATAG	0.463000										HNSCC(13;0.011)				103			22		0	0	1	0	0
OLA1	29789	broad.mit.edu	37	2	175094055	175094055	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:175094055G>T	uc002uih.3	-	2	412	c.226C>A	c.(226-228)Caa>Aaa	p.Q76K	OLA1_uc002uii.3_5'UTR|OLA1_uc010fqq.3_Missense_Mutation_p.Q76K|OLA1_uc010fqr.3_Missense_Mutation_p.Q76K	NM_013341	NP_001011708	Q9NTK5	OLA1_HUMAN	Homo sapiens Obg-like ATPase 1 (OLA1), transcript variant 1, mRNA.	76	G.				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						TTGTGGTATTGACAAAGAAAG	0.373000														57			3		1	1	1	1	0
TAS2R9	50835	broad.mit.edu	37	12	10962106	10962106	+	Missense_Mutation	SNP	G	A	A	rs115762530	by1000genomes	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:10962106G>A	uc001qyx.3	-	0	662	c.569C>T	c.(568-570)cCc>cTc	p.P190L	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	190					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGGATAAAGGGAACCATCAC	0.413000														67			19		0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	436574	436574	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:436574T>A	uc003gaf.4	-	2	2004	c.1778A>T	c.(1777-1779)gAa>gTa	p.E593V	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.E561V|ABCA11P_uc010ibe.3_Missense_Mutation_p.E549V	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TTTGCCACATTCTTCACATGT	0.413000														108			4		0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105212676	105212677	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:105212676_105212677GG>AA	uc001ypd.3	+	11	1349_1350	c.1275_1276GG>AA	c.(1273-1278)caggcc>caAAcc	p.A426T	ADSSL1_uc001ype.3_Missense_Mutation_p.A469T|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	426					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	TGCCCCCACAGGCCCAGAACTA	0.624000														41			5		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143013381	143013382	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:143013381_143013382CC>TT	uc003wcr.1	+	0	163_164	c.76_77CC>TT	c.(76-78)ccc>TTc	p.P26F	CLCN1_uc011ktc.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	26					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.P26T(2)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCAGTATATGCCCTTTGAACAC	0.634000														183			20		0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598322	49598322	+	Silent	SNP	C	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:49598322C>A	uc010rhy.2	+	1	913	c.435C>A	c.(433-435)acC>acA	p.T145T	LOC440040_uc009ymb.3_Silent_p.T145T					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		ACTCAGCAACCATCATGGATC	0.473000														69			4		1.23904e-05	1.24949e-05	1	1	0
ENOX2	10495	broad.mit.edu	37	X	129771314	129771314	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:129771314C>T	uc004evw.3	-	11	1705	c.1287G>A	c.(1285-1287)cgG>cgA	p.R429R	ENOX2_uc004evx.3_Silent_p.R400R|ENOX2_uc004evy.3_Silent_p.R400R|ENOX2_uc004evv.3_Silent_p.R254R	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	429					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	p.Y428*(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CTACTTCATTCCGGTAGGCAT	0.448000														84			38		0	0	1	0	0
ERMN	57471	broad.mit.edu	37	2	158182172	158182172	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:158182172G>A	uc002tzi.3	-	1	177	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	ERMN_uc010zcj.2_5'Flank|ERMN_uc002tzh.3_5'UTR|ERMN_uc010zck.2_5'UTR	NM_001009959	NP_065762	Q8TAM6	ERMIN_HUMAN	Homo sapiens ermin, ERM-like protein (ERMN), transcript variant 1, mRNA.	0						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						GGTTGAATCCGATCTGGAGAG	0.448000														137			19		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658447	142658447	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:142658447G>A	uc003wcb.3	-	3	433	c.223_splice	c.e3+1	p.R75_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	75					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCTTGCTTACGAGGGCCACAG	0.597000														97			13		0	0	1	0	0
C1orf131	128061	broad.mit.edu	37	1	231362769	231362769	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:231362769C>A	uc001hul.3	-	3	593	c.556G>T	c.(556-558)Gga>Tga	p.G186*	C1orf131_uc001hum.3_Nonsense_Mutation_p.G185*|C1orf131_uc001hun.1_Nonsense_Mutation_p.G186*|C1orf131_uc010pwd.1_Nonsense_Mutation_p.G185*	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	Homo sapiens chromosome 1 open reading frame 131 (C1orf131), mRNA.	186										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CTCTCCTTTCCTTTTCCATAA	0.473000														80			19		9.04412e-07	9.15124e-07	1	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77912865	77912865	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:77912865G>A	uc022bzi.1	-	0	1053	c.1053C>T	c.(1051-1053)aaC>aaT	p.N351N	ZCCHC5_uc004edc.1_Silent_p.N351N	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	351							nucleic acid binding|zinc ion binding	p.N351K(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTCATCCCAGTTCAGCTCTT	0.478000														30			14		0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94401016	94401016	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:94401016C>T	uc001ycd.3	-	9	2264	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	ASB2_uc001ycb.2_Missense_Mutation_p.E278K|ASB2_uc001ycc.2_Missense_Mutation_p.E584K	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	584					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGGGTGTTCTCGTATTTCAGG	0.542000														69			16		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538235	4538235	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:4538235C>T	uc002mau.3	-	1	772	c.761G>A	c.(760-762)gGt>gAt	p.G254D	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	254						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGAAGGCACCGGCTGCCAC	0.622000														207			50		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18865862	18865862	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:18865862C>T	uc021qvx.1	-	5	819	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	PLCZ1_uc001rdv.4_Missense_Mutation_p.E106K|PLCZ1_uc001rdw.4_Intron|PLCZ1_uc001rdu.1_5'UTR|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	210	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ACAACAGGTTCATTTTGTGCT	0.388000														85			16		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101746874	101746874	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:101746874G>A	uc001tia.1	+	39	5230	c.5074G>A	c.(5074-5076)Gaa>Aaa	p.E1692K		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1692					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAAACTCTTGAAGAACAAAT	0.264000														64			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262982	140262982	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140262982C>T	uc003lif.2	+	0	1129	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.R377C|PCDHAC2_uc003lid.3_Missense_Mutation_p.R377C	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	392	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTCCGATCGTGACTCTGG	0.507000														140			16		0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124729387	124729387	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:124729387G>A	uc011bke.2	-	7	3337	c.3269C>T	c.(3268-3270)gCt>gTt	p.A1090V	HEG1_uc003ehs.4_Missense_Mutation_p.A990V	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	990						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AGGGTTCACAGCACAGCTGTT	0.483000														5			4		0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54445475	54445475	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:54445475C>T	uc002qcr.2	+	4	851	c.756C>T	c.(754-756)atC>atT	p.I252I		NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	252				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ACGTGTCCATCCAAATGACGC	0.687000														221			63		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13410148	13410148	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:13410148G>A	uc002mwy.3	-	18	2535	c.2299C>T	c.(2299-2301)Caa>Taa	p.Q767*	CACNA1A_uc010dzc.2_Nonsense_Mutation_p.Q293*|CACNA1A_uc010xnd.2_Nonsense_Mutation_p.Q770*|CACNA1A_uc021ups.1_Nonsense_Mutation_p.Q767*|CACNA1A_uc010xne.2_Nonsense_Mutation_p.Q770*|CACNA1A_uc010dze.2_Nonsense_Mutation_p.Q767*|CACNA1A_uc021upt.1_Nonsense_Mutation_p.Q768*	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	768					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)	GCTGGCTTTTGATTCTTCTGT	0.552000														226			53		0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123346376	123346376	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:123346376G>A	uc003vkz.3	-	3	719	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	131	WH1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	p.R131*(2)|p.R131Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTGCTTTTCGAAATTTTTTT	0.363000														34			8		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815200	106815200	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:106815200C>T	uc003ymd.3	+	7	2913	c.2890C>T	c.(2890-2892)Cca>Tca	p.P964S	ZFPM2_uc011lhs.2_Missense_Mutation_p.P695S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	964					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTTGTTTCTTCCACAATGCCT	0.413000														21			4		0	0	1	0	0
RPUSD3	285367	broad.mit.edu	37	3	9881917	9881917	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:9881917C>T	uc011atk.2	-	6	679	c.675G>A	c.(673-675)gtG>gtA	p.V225V	TTLL3_uc003btc.2_Intron|RPUSD3_uc011atl.2_Silent_p.V210V|RPUSD3_uc011atm.1_3'UTR|RPUSD3_uc003btn.2_3'UTR	NM_173659	NP_775930	Q6P087	RUSD3_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 3 (RPUSD3), transcript variant 1, mRNA.	225					pseudouridine synthesis		RNA binding|pseudouridine synthase activity			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					CTGTGGCTACCACACGAAAGT	0.557000														173			34		0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29848353	29848353	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:29848353G>C	uc002hgn.1	+	4	962	c.733G>C	c.(733-735)Gac>Cac	p.D245H	RAB11FIP4_uc002hgo.2_Missense_Mutation_p.D143H	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.	245	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CGTCTACTCGGACCTGGGGTC	0.567000														47			10		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043350	56043350	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:56043350C>T	uc001nio.1	+	0	236	c.236C>T	c.(235-237)tCa>tTa	p.S79L		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	79					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)					GGTGTTTTATCATTCTTGGAT	0.373000														41			12		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280408	32280409	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:32280408_32280409CC>TT	uc001bts.1	-	1	584_585	c.526_527GG>AA	c.(526-528)ggg>AAg	p.G176K	SPOCD1_uc001btu.3_Missense_Mutation_p.G176K|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	176					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCTGTCACACCCTGGAGAACTC	0.609000														88			28		0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35579932	35579933	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:35579932_35579933GG>AA	uc002xgh.2	-	0	314_315	c.114_115CC>TT	c.(112-117)ctccat>ctTTat	p.H39Y		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	39					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TAGTCGGGATGGAGTTCCAGGC	0.634000														278			52		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65239972	65239972	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:65239972G>A	uc001xht.3	-	23	5195	c.5144C>T	c.(5143-5145)tCc>tTc	p.S1715F	SPTB_uc001xhr.3_Missense_Mutation_p.S1715F|SPTB_uc001xhs.3_Missense_Mutation_p.S1715F|SPTB_uc001xhu.3_Missense_Mutation_p.S1715F|SPTB_uc010aqi.3_Missense_Mutation_p.S376F	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1715					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)		CATTTCCGGGGAAGAGGCCAC	0.547000														38			15		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105815688	105815688	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:105815688C>T	uc001kxr.3	-	17	1708	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G	COL17A1_uc010qqv.1_Silent_p.G497G	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	513	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCATGCTGTCCCCATAGGGCA	0.592000														135			39		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78350124	78350124	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:78350124C>T	uc002jyh.2	+	52	13499	c.13356C>T	c.(13354-13356)ttC>ttT	p.F4452F	RNF213_uc021uen.1_Silent_p.F4403F|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGAGCAAATTCATTGGCGAAT	0.428000														163			12		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3078995	3078995	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:3078995G>A	uc003bpc.3	+	17	2414	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q	CNTN4_uc003bpb.1_Missense_Mutation_p.R363Q|CNTN4_uc021wsg.1_Missense_Mutation_p.R692Q|CNTN4_uc003bpd.1_Missense_Mutation_p.R692Q|CNTN4_uc003bpe.3_Missense_Mutation_p.R364Q|CNTN4_uc003bpf.3_Missense_Mutation_p.R363Q|CNTN4_uc003bpg.3_5'Flank	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	692	Fibronectin type-III 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)		TCAGAGAAACGGAGAACAGAA	0.522000														234			52		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117108984	117108984	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:117108984G>A	uc004biq.3	-	15	3614	c.3479C>T	c.(3478-3480)tCc>tTc	p.S1160F	AKNA_uc004bin.3_Missense_Mutation_p.S407F|AKNA_uc004bio.3_Missense_Mutation_p.S620F|AKNA_uc004bip.3_Missense_Mutation_p.S1079F|AKNA_uc004bir.3_Missense_Mutation_p.S1160F|AKNA_uc004bis.3_Missense_Mutation_p.S1160F|AKNA_uc010mve.2_Missense_Mutation_p.S1041F	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGGCACTGAGGAAGACCTGGC	0.547000														70			20		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20683155	20683155	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:20683155C>T	uc010kuh.3	+	6	815	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	379					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.S193L(1)|p.S193*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTACTTTTTCGATTGGCCTG	0.423000														101			21		0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62374338	62374338	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:62374338G>A	uc002ygq.3	+	7	1214	c.1159G>A	c.(1159-1161)Gac>Aac	p.D387N	SLC2A4RG_uc002ygr.3_Missense_Mutation_p.D282N|SLC2A4RG_uc011abj.2_Missense_Mutation_p.D282N|SLC2A4RG_uc002ygs.3_Missense_Mutation_p.D189N	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	Homo sapiens SLC2A4 regulator (SLC2A4RG), mRNA.	387						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCGGTTCCTGGACTAAGTCCG	0.657000														13			5		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76430278	76430278	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:76430278C>T	uc010dhp.2	-	74	12182	c.12057G>A	c.(12055-12057)aaG>aaA	p.K4019K	DNAH17_uc002jvq.3_Silent_p.K304K|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACTCCATCTCCTTGGTGCACA	0.602000														71			26		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24339764	24339764	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:24339764C>T	uc003xeb.3	+	8	928	c.815C>T	c.(814-816)tCa>tTa	p.S272L	ADAM7_uc003xec.3_Missense_Mutation_p.S44L	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	272	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTGCGTTTTTCATTTTGGCAA	0.338000														75			14		0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36170243	36170243	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:36170243C>T	uc003zzb.4	+	0	855	c.744C>T	c.(742-744)tcC>tcT	p.S248S		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	248					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ACACCTCATCCCATACAACCC	0.522000														28			8		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357043	13357043	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:13357043C>T	uc003wwm.2	-	1	982	c.538G>A	c.(538-540)Gag>Aag	p.E180K	DLC1_uc003wwn.3_Missense_Mutation_p.E180K|DLC1_uc011kxy.2_Missense_Mutation_p.E180K	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	180					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|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	p.E180K(3)		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						ACTTTTCTCTCCCCACTTTCT	0.388000														124			21		0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86920909	86920909	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:86920909C>T	uc001dlr.4	+	13	2693	c.2531C>T	c.(2530-2532)tCc>tTc	p.S844F		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	844					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCCCAAATTTCCACGAATGGA	0.403000														84			16		0	0	1	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571322	155571322	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:155571322C>A	uc003fan.4	-	0	927	c.465G>T	c.(463-465)atG>atT	p.M155I	SLC33A1_uc003fao.2_Missense_Mutation_p.M155I	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	155					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	p.F154F(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATAAATAGATCATGAAGAGTC	0.468000														62			10		3.86212e-05	3.8914e-05	1	1	0
TMEM186	25880	broad.mit.edu	37	16	8889953	8889953	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:8889953T>G	uc002cze.3	-	1	532	c.498A>C	c.(496-498)gaA>gaC	p.E166D	PMM2_uc002czf.4_5'Flank|PMM2_uc010uyf.2_5'Flank|PMM2_uc010uyg.2_5'Flank|PMM2_uc010uyh.2_5'Flank|PMM2_uc010buj.3_5'Flank|PMM2_uc010uyi.2_5'Flank|PMM2_uc010uye.1_5'Flank	NM_015421	NP_056236	Q96B77	TM186_HUMAN	Homo sapiens transmembrane protein 186 (TMEM186), mRNA.	166						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GGTCCTTGGTTTCTGTCAGGG	0.572000														108			31		0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26721774	26721774	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:26721774C>T	uc003xfc.1	-	0	1149	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	ADRA1A_uc010lul.1_Missense_Mutation_p.R238Q|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.R238Q|ADRA1A_uc010lum.1_Missense_Mutation_p.R238Q|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.R238Q|ADRA1A_uc003xfh.1_Missense_Mutation_p.R238Q|ADRA1A_uc022atd.1_Missense_Mutation_p.R238Q	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	238					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|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)	GGCGTTTTTCCGATGGATGCG	0.637000														59			4		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84302218	84302218	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:84302218G>A	uc021zcf.1	-	19	1916	c.1886C>T	c.(1885-1887)tCg>tTg	p.S629L	SNAP91_uc011dzd.2_Missense_Mutation_p.S132L|SNAP91_uc003pka.3_Missense_Mutation_p.S627L|SNAP91_uc011dze.2_Missense_Mutation_p.S627L|SNAP91_uc003pkc.3_Intron|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Intron	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	629					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	p.S629S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CTTTGCTGGCGAGGCAGTGGT	0.453000														23			8		0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85928607	85928607	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:85928607C>T	uc004ams.2	-	6	854	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	FRMD3_uc004amr.1_Missense_Mutation_p.E218K|FRMD3_uc022bja.1_Missense_Mutation_p.E174K|FRMD3_uc022biz.1_Missense_Mutation_p.E24K	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	218	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.E218K(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CCGTAGGTTTCCAAAGTGTGA	0.463000														173			46		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189704627	189704627	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:189704627C>T	uc011bsk.2	-	5	1526	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	LEPREL1_uc003fsg.3_Missense_Mutation_p.E199K	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	380					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTTATCAGCTCAGACTCCAGC	0.343000														133			28		0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109017521	109017521	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:109017521C>T	uc010sxe.2	-	1	788	c.611G>A	c.(610-612)gGc>gAc	p.G204D	SELPLG_uc001tni.3_Missense_Mutation_p.G188D|SELPLG_uc021rdm.1_Missense_Mutation_p.G178D|SELPLG_uc001tnh.3_Missense_Mutation_p.G178D	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	188	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGCCTCCAGGCCTGTGGGTTG	0.637000														131			35		0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140332642	140332642	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:140332642G>A	uc004cmw.3	-	1	280	c.96C>T	c.(94-96)gcC>gcT	p.A32A	ENTPD8_uc004cmx.3_Silent_p.A32A|ENTPD8_uc004cmy.2_Silent_p.A32A	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA.	32						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCACGCTGGTGGCCTCCACCA	0.687000														12			3		0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806439	33806439	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:33806439C>T	uc002hjn.3	-	2	1591	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	SLFN12L_uc021tuy.1_Missense_Mutation_p.E264K	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	296						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CCAATTACTTCTTTATCTTCA	0.343000														16			4		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41312459	41312459	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:41312459G>A	uc001rmm.1	+	3	226	c.113G>A	c.(112-114)gGa>gAa	p.G38E	CNTN1_uc009zjy.2_Missense_Mutation_p.G38E|CNTN1_uc001rmn.1_Missense_Mutation_p.G27E|CNTN1_uc001rmo.3_Missense_Mutation_p.G38E	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	38					Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane		p.G38*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAAGACAAAGGATTTGGACCA	0.358000														48			10		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286555	240286555	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:240286555G>A	uc010pye.2	+	1	1917	c.1692G>A	c.(1690-1692)cgG>cgA	p.R564R	FMN2_uc010pyd.2_Silent_p.R564R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	564					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)			TTTGCTCCCGGATCATTGCCA	0.493000														76			17		0	0	1	0	0
C11orf40	143501	broad.mit.edu	37	11	4598983	4598983	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:4598983C>T	uc010qyg.2	-	0	68	c.68G>A	c.(67-69)aGa>aAa	p.R23K		NM_144663	NP_653264	Q8WZ69	CK040_HUMAN	Homo sapiens chromosome 11 open reading frame 40 (C11orf40), mRNA.	23										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		tgggtcccctctgtccatctg	0.552000														12			3		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183574987	183574987	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:183574987G>A	uc003ivd.1	+	4	1127	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	351					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TTTGAGAATGGAAAAGTGAAT	0.398000														43			14		0	0	1	0	0
VN1R10P	387316	broad.mit.edu	37	6	27293434	27293435	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:27293434_27293435GA>AC	uc010jqt.3	+	0	895_896	c.373_374GA>AC	c.(373-375)gag>ACg	p.E125T		NM_032030	NP_114419			SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b;																		CCTAATCCTGGAGAACATTACT	0.347000														39			10		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542984	14542984	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:14542984C>T	uc010dln.3	-	0	616	c.162G>A	c.(160-162)atG>atA	p.M54I	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	54										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGAGCATCTTCATAAAGGAGT	0.592000														326			36		0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	436544	436544	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:436544T>A	uc003gaf.4	-	2	2034	c.1808A>T	c.(1807-1809)aAc>aTc	p.N603I	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.N571I|ABCA11P_uc010ibe.3_Missense_Mutation_p.N559I	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TACATAAAGGTTTGCGGACTG	0.413000														129			4		0	0	1	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24242875	24242875	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:24242875C>T	uc001uov.2	+	8	1088	c.884C>T	c.(883-885)tCc>tTc	p.S295F	TNFRSF19_uc001uot.3_Missense_Mutation_p.S295F|TNFRSF19_uc010tcu.2_Missense_Mutation_p.S163F|TNFRSF19_uc001uow.3_Missense_Mutation_p.S295F	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.	295					JNK cascade|apoptosis|induction of apoptosis	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TTCTTCGGATCCCTCACGCAG	0.493000														139			18		0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120425692	120425692	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:120425692C>T	uc003idh.3	-	18	2486	c.2331_splice	c.e18+1	p.R777_splice	PDE5A_uc003idf.3_Splice_Site_p.R735_splice|PDE5A_uc003idg.3_Splice_Site_p.R725_splice	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	777	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTAACATACCCGTTGTTGAAT	0.348000														54			12		0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260714	30260714	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:30260714C>T	uc004dcb.3	+	0	658	c.462C>T	c.(460-462)gtC>gtT	p.V154V	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	154	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TCAGGAAAGTCTCTCAGCGCA	0.493000														15			7		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20790133	20790133	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:20790133G>A	uc001reh.2	+	8	2141	c.2101G>A	c.(2101-2103)Gaa>Aaa	p.E701K	PDE3A_uc021qwa.1_Missense_Mutation_p.E379K	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	701					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGATTTAGTGGAAAATATAGG	0.348000														39			7		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160786653	160786653	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:160786653G>A	uc001fwu.3	+	5	1392	c.1342_splice	c.e5+1	p.G448_splice	LY9_uc001fwv.3_Splice_Site_p.G448_splice|LY9_uc001fww.3_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Splice_Site_p.G100_splice	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	448	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATCTGTTCAGGTTTCTCTCC	0.493000														91			13		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69621256	69621256	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:69621256G>A	uc010lyz.3	+	8	1560	c.1269G>A	c.(1267-1269)agG>agA	p.R423R	C8orf34_uc003xyb.3_Silent_p.R312R	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	337					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)			TGGAAGAAAGGACAGAAGAGT	0.358000														29			3		0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651391	1651391	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:1651391G>A	uc001lty.3	+	0	359	c.321G>A	c.(319-321)ggG>ggA	p.G107G	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	107	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTCCAAGGGGGCCTGTGGCT	0.687000														176			13		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108719505	108719505	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:108719505C>T	uc003dxl.3	-	21	2173	c.2086_splice	c.e21-1	p.A696_splice	MORC1_uc011bhn.2_Splice_Site_p.A675_splice	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	696					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAAGAAGCGGCCTATAACAAG	0.373000														59			11		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121818	38121818	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:38121818C>T	uc003atr.3	+	6	3526	c.3255C>T	c.(3253-3255)ttC>ttT	p.F1085F	TRIOBP_uc003atu.3_Silent_p.F913F|TRIOBP_uc003atq.1_Silent_p.F1085F|TRIOBP_uc003ats.1_Silent_p.F913F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1085					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TTGACCCCTTCCCCTTCCTCC	0.622000														141			42		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95604014	95604014	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:95604014G>A	uc001tdp.4	-	1	1270	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	349	Poly-Ser.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AGTAAGACAGGAAGAGCTACT	0.403000														101			17		0	0	1	0	0
TRIM45	80263	broad.mit.edu	37	1	117660782	117660782	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:117660782G>A	uc001egz.2	-	1	1684	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S	TRIM45_uc009whe.2_Missense_Mutation_p.P366S	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA.	366						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TTTACTCCAGGACGGGTGCTA	0.488000														109			38		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36317477	36317477	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:36317477C>T	uc002oby.3	-	28	3821	c.3665G>A	c.(3664-3666)gGa>gAa	p.G1222E		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	1222	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCCAAGTCTCCGGCCACCTG	0.542000														58			8		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229653	39229653	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:39229653G>A	uc003cjk.2	-	1	1513	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	XIRP1_uc003cji.3_Silent_p.A428A|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.A428A	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	428							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCTCTGGGGGGCACTCTGAG	0.557000														232			68		0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6302531	6302531	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:6302531C>T	uc003wqi.3	+	7	1364	c.1288C>T	c.(1288-1290)Cct>Tct	p.P430S	MCPH1_uc003wqh.3_Missense_Mutation_p.P430S|MCPH1_uc011kwl.2_Missense_Mutation_p.P382S	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	430						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AGAGAATCTTCCTCCTGAATC	0.453000														124			10		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154824	22154824	+	Silent	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:22154824T>C	uc021urr.1	-	3	3161	c.3012A>G	c.(3010-3012)gaA>gaG	p.E1004E	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.K1004N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGCCACATTCTTCACATTTGT	0.368000														72			3		0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7358761	7358761	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:7358761C>T	uc002ghb.3	+	8	1244	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	CHRNB1_uc010vty.2_Silent_p.F329F|CHRNB1_uc010vtz.1_Silent_p.F235F	NM_000747	NP_000738	P11230	ACHB_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA.	401					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				ATTTTCTCTTCCCCAAACCCA	0.547000														99			19		0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12854889	12854889	+	Splice_Site	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:12854889T>C	uc003bxk.2	+	7	1055	c.1006_splice	c.e7+2	p.E336_splice	CAND2_uc003bxj.2_Splice_Site_p.E243_splice	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	336					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTGAGCAAGGTTGGTGGACAG	0.527000														54			14		0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39336578	39336578	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:39336578G>A	uc021uuh.1	-	2	550	c.539C>T	c.(538-540)tCc>tTc	p.S180F	HNRNPL_uc021uui.1_Missense_Mutation_p.S47F|HNRNPL_uc010xun.2_5'Flank	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	180					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCCAGGGCGGGAGATCTTCTG	0.542000														189			20		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632602	143632602	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:143632602C>T	uc011ktv.2	+	0	277	c.277C>T	c.(277-279)Cca>Tca	p.P93S		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TAAAGCCATCCCATTCCAGAG	0.517000														202			35		0	0	1	0	0
INTS9	55756	broad.mit.edu	37	8	28638383	28638383	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:28638383C>T	uc003xha.3	-	11	1526	c.1227G>A	c.(1225-1227)atG>atA	p.M409I	INTS9_uc011lav.2_Missense_Mutation_p.M385I|INTS9_uc011law.2_Missense_Mutation_p.M388I|INTS9_uc011lax.2_Missense_Mutation_p.M302I|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	409					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CCCAGAGCTCCATGAAGTGGA	0.502000														62			20		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141578292	141578292	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:141578292G>A	uc010ioj.3	-	12	2568	c.2296C>T	c.(2296-2298)Cct>Tct	p.P766S		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	766						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TCTACCTCAGGGTAAGGTTCC	0.493000														68			23		0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124120434	124120434	+	Silent	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:124120434A>G	uc001pzx.3	+	0	12	c.12A>G	c.(10-12)gaA>gaG	p.E4E		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		TGTCAGGAGAAAATAATTCCT	0.443000														30			7		0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67803270	67803270	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:67803270C>A	uc003xwz.4	+	9	1415	c.1244C>A	c.(1243-1245)tCa>tAa	p.S415*	MCMDC2_uc011lev.2_Nonsense_Mutation_p.S415*|MCMDC2_uc011lew.2_Nonsense_Mutation_p.S346*|MCMDC2_uc011lex.2_Nonsense_Mutation_p.S173*|MCMDC2_uc003xwy.4_Nonsense_Mutation_p.S415*	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	415					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						GACTTGGCTTCACACAAAAAA	0.373000														72			11		9.31168e-06	9.39812e-06	1	1	0
PCLO	27445	broad.mit.edu	37	7	82784523	82784523	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:82784523C>T	uc003uhx.2	-	1	1723	c.1434G>A	c.(1432-1434)aaG>aaA	p.K478K	PCLO_uc003uhv.2_Silent_p.K478K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	428	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|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						GAGGTGGGGGCTTTGCTGGGC	0.607000														118			41		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40944410	40944410	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:40944410G>A	uc002xkg.3	-	11	2276	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	PTPRT_uc010ggj.3_Silent_p.L698L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	698	Fibronectin type-III 4.				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)				TAGCTTTTCAGGGGAGAGAGA	0.493000														91			19		0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70597602	70597602	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:70597602C>T	uc004dzu.4	+	5	912	c.861C>T	c.(859-861)agC>agT	p.S287S	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.S308S	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	287	Protein kinase 1.				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAGAAGTCAGCCAGAAGTCTT	0.507000														33			18		0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150071431	150071431	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:150071431T>C	uc003lst.3	-	10	1267	c.1145A>G	c.(1144-1146)cAc>cGc	p.H382R		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	382	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGAACATGTGTGGCCCAAA	0.502000														65			7		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119324127	119324127	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:119324127T>G	uc003pyj.3	-	8	2373	c.2025A>C	c.(2023-2025)aaA>aaC	p.K675N	FAM184A_uc003pyk.4_Missense_Mutation_p.K555N|FAM184A_uc003pyl.4_Missense_Mutation_p.K555N	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	675										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCTCTCGATCTTTCAACTGCA	0.353000														65			20		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222476	27222476	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:27222476C>T	uc003nja.3	+	9	1170	c.1155C>T	c.(1153-1155)gtC>gtT	p.V385V	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Silent_p.V128V|PRSS16_uc003njd.3_Intron	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	385					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACACAGATGTCACCTGTGAGA	0.507000														172			37		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122418559	122418559	+	Silent	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:122418559T>C	uc003efq.4	+	5	1217	c.1158T>C	c.(1156-1158)gaT>gaC	p.D386D	PARP14_uc021xdc.1_Silent_p.D250D|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Silent_p.D103D|PARP14_uc003efs.1_Silent_p.D103D	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	386					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)		GGCAGGCAGATACTTCCACAA	0.443000														134			23		0	0	1	0	0
CYB5RL	606495	broad.mit.edu	37	1	54644969	54644969	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:54644969G>A	uc009vzo.3	-	6	917	c.597C>T	c.(595-597)atC>atT	p.I199I	CYB5RL_uc001cww.3_Silent_p.I89I|CYB5RL_uc001cwy.4_Silent_p.I51I|CYB5RL_uc001cwx.4_Non-coding_Transcript	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	Homo sapiens cytochrome b5 reductase-like (CYB5RL), mRNA.	199							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TGCTCTGCAGGATAGGCACCA	0.542000														16			8		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17855836	17855836	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:17855836G>A	uc003ncg.4	-	5	486	c.326C>T	c.(325-327)tCc>tTc	p.S109F	KIF13A_uc003ncf.3_Missense_Mutation_p.S109F|KIF13A_uc003nch.4_Missense_Mutation_p.S109F|KIF13A_uc003nci.4_Missense_Mutation_p.S109F	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	109	Kinesin-motor.				Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome 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)			CATGGAAAAGGATTTTCCCGA	0.463000														10			3		0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61388197	61388197	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:61388197G>A	uc002ljk.4	+	7	919	c.748G>A	c.(748-750)Gta>Ata	p.V250I	SERPINB11_uc010xes.2_Missense_Mutation_p.V76I|SERPINB11_uc010dqd.3_Missense_Mutation_p.V137I|SERPINB11_uc002ljj.4_Missense_Mutation_p.V137I|SERPINB11_uc010dqe.3_Missense_Mutation_p.V50I|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	251					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TCTGCTTCCAGTAGGCATAGC	0.383000														11			11		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107141298	107141298	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:107141298C>T	uc001tlt.3	+	15	1884	c.1744C>T	c.(1744-1746)Ccc>Tcc	p.P582S	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.P573S|RFX4_uc001tlv.3_Missense_Mutation_p.P479S	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	573					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CCAACAGCTGCCCTGTATGAG	0.512000														98			22		0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094957	46094957	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:46094957C>T	uc002pcm.3	-	1	1113	c.168G>A	c.(166-168)ctG>ctA	p.L56L	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.L56L	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	56						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		TGAGGTTCATCAGGTAGACGC	0.632000														78			30		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002224	98002224	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:98002224G>A	uc003dsj.1	+	0	493	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	165					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						CTTAATTCATGAAGTCCTTAT	0.348000														51			8		0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982883	57982883	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:57982883C>T	uc010rkc.2	+	0	667	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TATCATCTTCCCCTTTACACT	0.448000														69			21		0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79514095	79514095	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:79514095G>A	uc002kaq.3	-	4	2086	c.2013C>T	c.(2011-2013)ccC>ccT	p.P671P	C17orf70_uc002kao.1_Silent_p.P320P|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Silent_p.P520P	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	671					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGTCTCGGGTGGGGCCGAGTG	0.687000														28			11		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5485279	5485279	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:5485279C>T	uc002gci.3	-	2	1107	c.552G>A	c.(550-552)ggG>ggA	p.G184G	NLRP1_uc002gcg.1_Silent_p.G184G|NLRP1_uc002gch.4_Silent_p.G184G|NLRP1_uc002gck.3_Silent_p.G184G|NLRP1_uc002gcj.3_Silent_p.G184G|NLRP1_uc002gcl.3_Silent_p.G184G|NLRP1_uc010clh.3_Silent_p.G184G	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	184					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|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)				ATCCCCAGCTCCCCAGCACTG	0.597000														59			12		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117131389	117131389	+	Silent	SNP	C	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:117131389C>A	uc001egq.1	-	8	3132	c.2427G>T	c.(2425-2427)ctG>ctT	p.L809L	IGSF3_uc001egr.1_Silent_p.L789L|IGSF3_uc001egs.1_Silent_p.L462L	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	789						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGTTGGGGCTCAGCAGCCACT	0.627000														40			9		6.81908e-15	6.94095e-15	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144945154	144945154	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:144945154G>A	uc003zaa.1	-	0	2281	c.2268C>T	c.(2266-2268)atC>atT	p.I756I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	756						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)			GGTCCAACAGGATCAAGTTCA	0.637000														130			20		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651480	8651480	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:8651480C>T	uc002mkj.1	-	19	2639	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	ADAMTS10_uc002mki.1_Missense_Mutation_p.E276K|ADAMTS10_uc002mkk.1_Missense_Mutation_p.E421K	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	789	Spacer.				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						CCCAGGGCTTCGAGGCTCTGG	0.612000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		115			10		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949658	27949658	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:27949658C>T	uc003zqv.1	-	6	1662	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	LINGO2_uc010mjf.1_Missense_Mutation_p.E338K|LINGO2_uc003zqu.1_Missense_Mutation_p.E338K|LINGO2_uc022bfc.1_Missense_Mutation_p.E338K	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	338						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AAGACATTCTCTTCCAAAGTT	0.567000														52			16		0	0	1	0	0
AGPAT2	10555	broad.mit.edu	37	9	139568309	139568309	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:139568309G>A	uc004cii.1	-	5	834	c.732C>T	c.(730-732)ctC>ctT	p.L244L	AGPAT2_uc004cij.1_Silent_p.L212L	NM_006412	NP_006403	O15120	PLCB_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA.	244					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		AGGTGTCCACGAGCGCAGGGA	0.682000														14			8		0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178543421	178543421	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:178543421G>A	uc003fjd.3	+	2	445	c.102G>A	c.(100-102)agG>agA	p.R34R	AF279780_uc003fjb.1_Intron|AF279780_uc003fjc.1_Intron|KCNMB2_uc003fje.3_Silent_p.R34R|KCNMB2_uc003fjf.3_Silent_p.R34R|KCNMB2_uc011bqa.2_Silent_p.R34R|KCNMB2_uc011bqb.2_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 2 (KCNMB2), transcript variant 1, mRNA.	34	Ball and chain.				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TGGACAAAAGGAAAACAGTCA	0.433000														197			28		0	0	1	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														98			35		0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55282703	55282703	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:55282703G>A	uc001cyb.4	+	8	1146	c.1092G>A	c.(1090-1092)atG>atA	p.M364I	C1orf177_uc001cya.4_Missense_Mutation_p.M364I	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	364										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CCTGGCTGATGGAGACAAAGG	0.577000														63			16		0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53543377	53543377	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:53543377C>T	uc001cuv.3	+	6	1071	c.903C>T	c.(901-903)atC>atT	p.I301I	PODN_uc010onr.2_Silent_p.I282I|PODN_uc010ons.2_Silent_p.I159I|PODN_uc001cuw.3_Silent_p.I282I	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	253					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGGAGAAGATCCCCCCGGGGG	0.617000														221			19		0	0	1	0	0
SRSF5	6430	broad.mit.edu	37	14	70234911	70234911	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:70234911C>T	uc001xll.3	+	2	1489	c.38C>T	c.(37-39)cCa>cTa	p.P13L	SRSF5_uc021rvj.1_Missense_Mutation_p.P13L|LOC100289511_uc021rvk.1_5'Flank|SRSF5_uc001xln.1_Missense_Mutation_p.P13L|SRSF5_uc001xlo.3_Missense_Mutation_p.P13L|SRSF5_uc001xlp.3_Missense_Mutation_p.P13L	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	Homo sapiens serine/arginine-rich splicing factor 5 (SRSF5), transcript variant 2, mRNA.	13	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding			large_intestine(1)|liver(1)	2						AGACTAAATCCAGCGGCCAGG	0.428000														80			12		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249258	123249258	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:123249258G>A	uc003ieh.3	+	64	11041	c.10996_splice	c.e64-1	p.F3666_splice	KIAA1109_uc003iem.3_Splice_Site_p.F57_splice	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3666					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						TTTACAATCAGTTTCCAGAGG	0.289000														24			8		0	0	1	0	0
LOC729862	729862	broad.mit.edu	37	5	28927413	28927413	+	RNA	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:28927413G>A	uc003jgz.1	+	0		c.437G>A								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		AACGTGAACAGAAGGTAGTTC	0.443000														37			14		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57286151	57286151	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:57286151G>A	uc002qnr.2	-	10	1871	c.1489C>T	c.(1489-1491)Cag>Tag	p.Q497*	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Nonsense_Mutation_p.Q293*|PEG3_uc010ygq.1_Nonsense_Mutation_p.Q293*|PEG3_uc010etp.2_Nonsense_Mutation_p.Q497*|PEG3_uc010ygs.1_Nonsense_Mutation_p.Q497*|PEG3_uc002qnq.2_Nonsense_Mutation_p.Q497*	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	630					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCACATAGCTGACACTGGTAA	0.458000														57			5		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98816184	98816184	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:98816184C>T	uc001kmw.2	-	12	1447	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	SLIT1_uc009xvh.1_Missense_Mutation_p.D409N	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	399					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGAAGGCATCGGGCCGGATG	0.592000														108			21		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27495589	27495589	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:27495589G>A	uc002dov.2	-	24	3984	c.3944C>T	c.(3943-3945)tCc>tTc	p.S1315F	GTF3C1_uc002dou.3_Missense_Mutation_p.S1315F	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1315						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCGTCCAACGGAATGAGATGT	0.493000														72			23		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107589322	107589322	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:107589322G>A	uc004bcl.3	-	15	2648	c.2244C>T	c.(2242-2244)gcC>gcT	p.A748A		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	748					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGCCCCCACAGGCTGCTGCCA	0.552000														83			23		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97658780	97658780	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:97658780C>T	uc001drv.3	-	19	2604	c.2467G>A	c.(2467-2469)Gat>Aat	p.D823N		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	823					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACAGTGAAATCCTGATTCTGA	0.428000														32			3		0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21955042	21955042	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:21955042C>T	uc011kyx.2	+	3	364	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	FAM160B2_uc011kyy.2_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	105										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CCCAGGCATGCGGCAGCAGGT	0.672000														19			3		0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53114855	53114855	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:53114855C>T	uc004drw.3	+	5	1420	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A	TSPYL2_uc004drv.3_3'UTR|TSPYL2_uc004drx.1_Silent_p.A32A	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	Homo sapiens TSPY-like 2 (TSPYL2), mRNA.	427					cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						TGGAAGACGCCCCTGACTATT	0.483000														51			20		0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56879416	56879416	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:56879416G>A	uc003xsk.4	+	8	1215	c.933G>A	c.(931-933)agG>agA	p.R311R	LYN_uc003xsl.4_Silent_p.R290R	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	311	Protein kinase.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TGGTCACCAGGGAGGAGCCCA	0.522000														89			13		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121976231	121976231	+	Silent	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:121976231A>G	uc004bkc.2	-	5	1344	c.888T>C	c.(886-888)tcT>tcC	p.S296S	DBC1_uc004bkd.2_Silent_p.S296S	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	296					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						CTTCGGCCCAAGACTTGGCCA	0.547000														68			28		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967335	41967335	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:41967335C>T	uc010skn.2	+	9	2762	c.2754C>T	c.(2752-2754)atC>atT	p.I918I	PDZRN4_uc001rmq.4_Silent_p.I660I|PDZRN4_uc009zjz.3_Silent_p.I658I|PDZRN4_uc001rmr.3_Silent_p.I545I	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	918							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CCTTAAAGATCAAGGAAGAGC	0.517000														71			4		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119029407	119029407	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:119029407C>T	uc001pvs.3	+	10	1644	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	ABCG4_uc009zar.3_Silent_p.F436F	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	436	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCCTCATGTTCGCCGCCCTCA	0.627000														76			9		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18872489	18872489	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:18872489C>T	uc021qvx.1	-	4	636	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	PLCZ1_uc001rdv.4_Missense_Mutation_p.E45K|PLCZ1_uc001rdw.4_Intron|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	149					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTTCTACATTCATTTTTAAAC	0.274000														42			9		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216239936	216239936	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:216239936C>T	uc002vfa.3	-	38	6423	c.6157_splice	c.e38+1	p.G2053_splice	FN1_uc002vfc.3_Splice_Site_p.G1872_splice|FN1_uc002vfe.3_Splice_Site_p.G1962_splice|FN1_uc002vff.3_Splice_Site_p.G1962_splice|FN1_uc002vfg.3_Splice_Site_p.G1872_splice|FN1_uc002vfh.3_Splice_Site_p.G1872_splice|FN1_uc002vfi.3_Splice_Site_p.G2053_splice|FN1_uc002vfj.3_Splice_Site_p.G1963_splice|FN1_uc002vfb.3_Splice_Site_p.G1872_splice|FN1_uc002vez.3_Splice_Site_p.G247_splice|FN1_uc010zjp.2_Splice_Site_p.G590_splice|FN1_uc002vfk.1_Splice_Site|FN1_uc010fva.1_Splice_Site|FN1_uc010fvb.1_Splice_Site|FN1_uc010fvc.1_Splice_Site_p.G415_splice|FN1_uc010fvd.1_Splice_Site_p.G144_splice	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1962	Connecting strand 3 (CS-3) (V region).				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)	AGCAGCAATACCAGTAATAGT	0.498000														102			7		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106967197	106967197	+	RNA	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:106967197C>T	uc021ser.1	-	263		c.10303G>A								Parts of antibodies, mostly variable regions.																		GTTGATTATTCCCATCCACTC	0.547000														110			26		0	0	1	0	0
CT62	196993	broad.mit.edu	37	15	71403623	71403623	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:71403623C>T	uc002ata.2	-	3	791	c.278G>A	c.(277-279)cGg>cAg	p.R93Q		NM_001102658	NP_001096128	P0C5K7	CT62_HUMAN	Homo sapiens cancer/testis antigen 62 (CT62), mRNA.	93								p.R93W(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						CTTGACATTCCGTCTGGAAAC	0.493000														51			13		0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	7049150	7049150	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:7049150G>A	uc003zkh.3	+	16	2954	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	KDM4C_uc010mhu.2_Missense_Mutation_p.E814K|KDM4C_uc011lmi.1_Missense_Mutation_p.E792K|KDM4C_uc011lmj.1_Intron|KDM4C_uc003zkg.3_Missense_Mutation_p.E792K|KDM4C_uc011lmk.2_Missense_Mutation_p.E537K|KDM4C_uc011lml.2_Missense_Mutation_p.E479K	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.	792					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.P791L(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TAATGTCCCAGAAAGGACACA	0.403000														52			17		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9360725	9360725	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:9360725G>A	uc021wam.1	+	9	784	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	PLCB4_uc010gbw.1_Missense_Mutation_p.E257K|PLCB4_uc010gbx.3_Missense_Mutation_p.E257K|PLCB4_uc021wal.1_Missense_Mutation_p.E257K|PLCB4_uc002wnh.3_Missense_Mutation_p.E104K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	257					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCGATTGAATGAAATTTTATT	0.308000														35			7		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993791	140993791	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:140993791C>T	uc004fbt.3	+	3	925	c.601C>T	c.(601-603)Cct>Tct	p.P201S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	201							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCCAGATTCCTGTGAGCCG	0.502000										HNSCC(15;0.026)				116			18		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101198190	101198190	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:101198190G>A	uc001dti.3	+	6	1963	c.1742G>A	c.(1741-1743)gGa>gAa	p.G581E	VCAM1_uc010ouj.2_Missense_Mutation_p.G519E|VCAM1_uc001dtj.3_Missense_Mutation_p.G489E	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	581	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTATGTGAAGGAATTAACCAG	0.408000														144			40		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814023	137814023	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:137814023C>T	uc002tva.1	+	1	80	c.80C>T	c.(79-81)cCc>cTc	p.P27L	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACTGTGGTCCCGGAGGAGTC	0.493000														59			7		0	0	1	0	0
RPRD1A	55197	broad.mit.edu	37	18	33610771	33610771	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:33610771C>T	uc002kzg.3	-	4	492	c.486_splice	c.e4+1	p.Q162_splice	RPRD1A_uc002kze.1_Splice_Site_p.Q126_splice|RPRD1A_uc010dmw.3_Splice_Site_p.Q126_splice|RPRD1A_uc010dmx.3_Splice_Site_p.Q162_splice	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1A (RPRD1A), mRNA.	162										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						AAATTTCTACCTGTGGTGGTT	0.358000														32			9		0	0	1	0	0
HBEGF	1839	broad.mit.edu	37	5	139725585	139725585	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:139725585G>A	uc003lfi.3	-	1	406	c.131C>T	c.(130-132)aCt>aTt	p.T44I	HBEGF_uc010jfj.3_Intron	NM_001945	NP_001936	Q99075	HBEGF_HUMAN	Homo sapiens heparin-binding EGF-like growth factor (HBEGF), mRNA.	44					epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing	cell surface|extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGATACAGTGGGAGGGTC	0.642000											OREG0016844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			9		0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	137045491	137045491	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:137045491G>A	uc010jek.3	-	2	633	c.189C>T	c.(187-189)gcC>gcT	p.A63A	MYOT_uc011cye.2_Intron|KLHL3_uc010jem.1_Silent_p.A23A	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	63	BTB.					cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CCACACGGTGGGCTTCTATCT	0.547000														122			16		0	0	1	0	0
HSPD1	3329	broad.mit.edu	37	2	198363463	198363463	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:198363463C>T	uc002uui.3	-	1	247	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	HSPD1_uc010zgx.2_Missense_Mutation_p.R37Q|HSPD1_uc010fsm.3_5'UTR|HSPD1_uc002uuk.3_Missense_Mutation_p.R37Q|HSPD1_uc010zgy.1_Missense_Mutation_p.R37Q|HSPE1-MOB4_uc002uul.3_5'Flank|HSPE1-MOB4_uc021vum.1_5'Flank	NM_002156	NP_955472	P10809	CH60_HUMAN	Homo sapiens heat shock 60kDa protein 1 (chaperonin) (HSPD1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	37					'de novo' protein folding|B cell cytokine production|B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|T cell activation|activation of caspase activity|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|negative regulation of apoptosis|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|protein maturation|protein refolding|protein stabilization|response to unfolded protein	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|DNA replication origin binding|cell surface binding|chaperone binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	p.A36T(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CATTAAGGCTCGGGCATCTGC	0.463000														146			14		0	0	1	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285860	248285860	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:248285860C>T	uc001idy.1	+	0	423	c.423C>T	c.(421-423)ttC>ttT	p.F141F						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		TGCTTGTTTTCCCTGTTGCAA	0.413000														267			51		0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197511090	197511090	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:197511090G>A	uc002utp.1	+	1	173	c.38G>A	c.(37-39)aGa>aAa	p.R13K	CCDC150_uc002uto.1_Missense_Mutation_p.R13K|CCDC150_uc010zgq.1_Intron|CCDC150_uc010zgr.1_Non-coding_Transcript|CCDC150_uc010zgs.1_5'UTR	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	13										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ACAGTGTCCAGACCGGTCCTT	0.428000														110			15		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529366	57529366	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:57529366G>A	uc011kdi.1	+	3	1311	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TACCACAAGAGAACTCATACT	0.403000														47			11		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111551692	111551692	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:111551692G>A	uc010yxk.1	+	4	510	c.286G>A	c.(286-288)Ggc>Agc	p.G96S		NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	96					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GACCGAGAGGGGCCATGGGAG	0.552000														64			6		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195493607	195493607	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:195493607G>A	uc021xjp.1	-	7	13701	c.13545C>T	c.(13543-13545)ttC>ttT	p.F4515F	MUC4_uc003fuz.3_Intron|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_Intron|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Intron|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Silent_p.F24F|MUC4_uc021xjn.1_Silent_p.F204F|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Silent_p.F79F|MUC4_uc021xjj.1_Silent_p.F79F|MUC4_uc021xjk.1_Silent_p.F256F|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Silent_p.F279F|MUC4_uc003fvp.3_Silent_p.F228F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1272					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.F4387F(1)|p.F279F(1)|p.F4515F(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCTGTTTTCGAAATAGCCAT	0.547000														68			18		0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43022827	43022827	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:43022827C>T	uc001zql.3	-	13	2260	c.2143G>A	c.(2143-2145)Gac>Aac	p.D715N	CDAN1_uc001zqj.3_Non-coding_Transcript|CDAN1_uc001zqk.3_Silent_p.G40G	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	715						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GTGAAGATGTCCCGGTAATAT	0.587000														69			4		0	0	1	0	0
SUCLA2	8803	broad.mit.edu	37	13	48542773	48542773	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:48542773G>A	uc001vbs.3	-	5	816	c.759C>T	c.(757-759)acC>acT	p.T253T	SUCLA2_uc010tgb.2_Silent_p.T193T|SUCLA2_uc010tgc.2_Silent_p.T119T|SUCLA2_uc010tgd.2_Silent_p.T193T	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	Homo sapiens succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2), nuclear gene encoding mitochondrial protein, mRNA.	253	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TTTCTATCATGGTTGCATCGT	0.368000														49			5		0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217107	150217107	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:150217107G>A	uc003whk.3	+	1	175	c.45G>A	c.(43-45)ggG>ggA	p.G15G	GIMAP7_uc022apu.1_Silent_p.G15G	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	15							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTGGTAGGGAAAACTGGAA	0.498000														73			13		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118166	165118166	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:165118166C>T	uc011cjk.2	-	0	698	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	233								p.R233Q(2)		NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		ttctcattttcgcttctgacc	0.423000														27			7		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597537	136597537	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:136597537C>T	uc003qgx.1	-	4	1379	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	BCLAF1_uc003qgy.1_Missense_Mutation_p.E374K|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E374K|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	376					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCCTGATCTTCCCATTCTCCC	0.423000														331			20		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072326	9072326	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:9072326G>A	uc002mkp.3	-	2	15324	c.15120C>T	c.(15118-15120)ccC>ccT	p.P5040P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5042	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						GAAAGGAAGAGGGGGAGCTGG	0.468000														29			8		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155698	22155698	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:22155698C>T	uc021urr.1	-	3	2287	c.2138G>A	c.(2137-2139)aGa>aAa	p.R713K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTATGAATTCTCTTATGTTC	0.368000														68			7		0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28862197	28862197	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:28862197C>T	uc001urz.3	+	17	2613	c.2461C>T	c.(2461-2463)Cag>Tag	p.Q821*	PAN3_uc001ury.3_Nonsense_Mutation_p.Q509*|PAN3_uc001urx.3_Nonsense_Mutation_p.Q621*	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	821	Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TCTTTTTCATCAGGTGACAGA	0.393000														54			4		0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73188368	73188368	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:73188368G>A	uc002siq.3	-	12	968	c.837C>T	c.(835-837)ctC>ctT	p.L279L	SFXN5_uc002sip.3_Intron|SFXN5_uc002sio.3_Silent_p.L171L|SFXN5_uc010yrc.2_Silent_p.L128L|SFXN5_uc010fet.3_Missense_Mutation_p.S212F|SFXN5_uc010fer.3_Intron|SFXN5_uc010feq.3_Silent_p.L61L|SFXN5_uc010fes.3_Silent_p.L61L	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA.	279					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GTGCCTGCAGGAGAGCCGTCC	0.687000														29			5		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87785248	87785249	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:87785248_87785249CC>TT	uc003ujn.3	+	21	2049_2050	c.1834_1835CC>TT	c.(1834-1836)cca>TTa	p.P612L	ADAM22_uc003ujk.2_Missense_Mutation_p.P612L|ADAM22_uc003ujl.2_Missense_Mutation_p.P612L|ADAM22_uc003ujm.3_Missense_Mutation_p.P612L|ADAM22_uc003ujo.3_Missense_Mutation_p.P612L|ADAM22_uc003ujp.1_Missense_Mutation_p.P664L	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	612	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)			TGGCAATATCCCAAGGCTTGGA	0.366000														153			25		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121170405	121170405	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:121170405C>T	uc003yox.3	+	2	390	c.125C>T	c.(124-126)tCt>tTt	p.S42F		NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	42	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATGTAATATCTCATGACAGT	0.343000														44			16		0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224482088	224482088	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:224482088G>A	uc001hok.3	-	11	1268	c.1206C>T	c.(1204-1206)gcC>gcT	p.A402A	NVL_uc001hol.3_Silent_p.A296A|NVL_uc010pvd.2_Silent_p.A311A|NVL_uc010pve.2_Silent_p.A213A|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	402						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CTAGGACCCGGGCTGTAGCAG	0.463000														64			17		0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69397421	69397421	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:69397421G>A	uc002sfg.3	+	14	1445	c.1089_splice	c.e14+1	p.E363_splice	ANTXR1_uc002sff.3_Splice_Site_p.E363_splice	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	363	Asp/Glu-rich (highly acidic).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGGAGAGTGAGGTAAGTGACC	0.572000									Familial Infantile Hemangioma					47			9		0	0	1	0	0
PSPH	5723	broad.mit.edu	37	7	56082721	56082721	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:56082721G>A	uc003trj.3	-	4	967	c.652C>T	c.(652-654)Cct>Tct	p.P218S	PSPH_uc003trh.3_Missense_Mutation_p.P189S|PSPH_uc003tri.3_Missense_Mutation_p.P189S	NM_004577	NP_004568	P78330	SERB_HUMAN	Homo sapiens phosphoserine phosphatase (PSPH), mRNA.	189					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CATACAGCAGGAGGACAGGCT	0.294000														83			18		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141747642	141747642	+	Silent	SNP	A	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:141747642A>T	uc003vwy.3	+	21	2610	c.2556A>T	c.(2554-2556)ggA>ggT	p.G852G		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	852	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGCAAAAGGAGAACTTTTCT	0.453000														29			7		0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134501591	134501592	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:134501591_134501592GG>AA	uc022bos.1	-	9	1581_1582	c.1422_1423CC>TT	c.(1420-1425)ctcccc>ctTTcc	p.P475S	RAPGEF1_uc022bot.1_Missense_Mutation_p.P457S|RAPGEF1_uc010mzm.3_Non-coding_Transcript|RAPGEF1_uc022bou.1_Missense_Mutation_p.P462S|RAPGEF1_uc022bov.1_Missense_Mutation_p.P462S	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	457					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TTCTTCTCGGGGAGAGCAGGTG	0.649000														24			5		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136805	40136805	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:40136805C>T	uc021qgf.1	-	0	1038	c.1038G>A	c.(1036-1038)caG>caA	p.Q346Q	LRRC4C_uc001mxc.1_Silent_p.Q342Q|LRRC4C_uc001mxd.1_Silent_p.Q342Q|LRRC4C_uc001mxa.1_Silent_p.Q346Q|LRRC4C_uc001mxb.1_Silent_p.Q342Q	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	346	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding	p.D345Y(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGAAGTAATTCTGGTCGAGCT	0.537000														48			19		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1791840	1791840	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:1791840G>A	uc002ltw.3	-	19	2445	c.2211C>T	c.(2209-2211)atC>atT	p.I737I	ATP8B3_uc002ltv.3_Silent_p.I700I|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	737					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTGTCCTCGATGGCTGTGG	0.627000														37			10		0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503584	40503584	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:40503584G>A	uc002lav.3	-	3	552	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	RIT2_uc010dnf.3_Missense_Mutation_p.P127S	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	127					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCACCAGGGGAATTTCATAG	0.478000														209			55		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294827	5294827	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:5294827G>A	uc010zqw.2	-	0	197	c.189C>T	c.(187-189)atC>atT	p.I63I	PROKR2_uc010zqx.2_Silent_p.I63I|PROKR2_uc010zqy.2_Silent_p.I63I|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	63						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGACCAGCATGATGCCTGCCA	0.527000										HNSCC(71;0.22)				85			30		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53774333	53774333	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:53774333C>T	uc003dgv.4	+	20	2941	c.2778C>T	c.(2776-2778)ttC>ttT	p.F926F	CACNA1D_uc003dgu.4_Silent_p.F946F|CACNA1D_uc003dgy.4_Silent_p.F926F|CACNA1D_uc003dgw.4_Silent_p.F593F|CACNA1D_uc003dgx.1_Silent_p.F74F	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	926					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACTATGCCTTCACAGCCATCT	0.423000														160			37		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95001366	95001366	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:95001366G>A	uc002btj.3	+	19	2316	c.2251_splice	c.e19-1	p.E751_splice	MCTP2_uc010boj.3_Splice_Site_p.E480_splice|MCTP2_uc010bok.3_Splice_Site_p.E696_splice|MCTP2_uc002btl.3_Splice_Site_p.E339_splice	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	751					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)			TGTTTTCTAGGAATCTGAGAA	0.299000														52			4		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	605665	605665	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:605665C>T	uc001lqe.3	+	11	1526	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	PHRF1_uc010qwc.2_Silent_p.S464S|PHRF1_uc010qwd.2_Silent_p.S463S|PHRF1_uc010qwe.2_Silent_p.S461S|PHRF1_uc009ybz.1_Silent_p.S255S|PHRF1_uc009yca.2_5'Flank	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	465							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGGCTCTGTCCCGGTCAGCCC	0.637000														87			17		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766146	43766146	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:43766146C>T	uc002owd.4	-	2	674	c.575G>A	c.(574-576)aGg>aAg	p.R192K	PSG9_uc002owe.4_Missense_Mutation_p.R192K|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.R192K	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	192	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CAGCTGCAACCTGTGAGTCAC	0.507000														299			41		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480437	140480437	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140480437C>T	uc003lio.3	+	0	204	c.204C>T	c.(202-204)tcC>tcT	p.S68S	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	68	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGTTGTGTCCAAAGGGAACA	0.512000														100			11		0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4778692	4778692	+	Silent	SNP	G	A	A	rs34143688		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:4778692G>A	uc002wld.3	-	2	153	c.99C>T	c.(97-99)taC>taT	p.Y33Y	RASSF2_uc002wlc.3_5'Flank|RASSF2_uc002wlf.3_Silent_p.Y33Y	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	33					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GGCCTTCATAGTACAAGTTGT	0.478000														41			9		0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6089631	6089631	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:6089631G>A	uc003spp.3	-	2	469	c.323C>T	c.(322-324)aCt>aTt	p.T108I	EIF2AK1_uc003spq.3_Missense_Mutation_p.T108I|EIF2AK1_uc011jwm.1_Intron	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA.	108					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GTCACTACAAGTGAAAGAAGA	0.353000														57			15		0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447646	24447646	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:24447646G>A	uc001biq.2	-	6	1577	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	IL22RA1_uc010oeg.1_Silent_p.S390S|IL22RA1_uc009vrb.2_Silent_p.S322S|IL22RA1_uc010oeh.2_3'UTR	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	458						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TTGCTTCTTGGGATTCCTCCA	0.527000														75			15		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118537050	118537050	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:118537050C>T	uc001ehk.2	-	34	5225	c.5157G>A	c.(5155-5157)tgG>tgA	p.W1719*	SPAG17_uc021osr.1_Nonsense_Mutation_p.W229*	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1719						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GAAATGTTTCCCATGACCTTG	0.418000														102			10		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104735	168104735	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:168104735C>T	uc002udx.3	+	8	6922	c.6833C>T	c.(6832-6834)cCt>cTt	p.P2278L	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P2103L|XIRP2_uc010fpq.3_Missense_Mutation_p.P2056L|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2103					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						AACTTTAACCCTGAGAATAAT	0.408000														66			9		0	0	1	0	0
ANXA1	301	broad.mit.edu	37	9	75784010	75784010	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:75784010G>A	uc004ajf.1	+	11	998	c.924G>A	c.(922-924)atG>atA	p.M308I	ANXA1_uc004ajg.1_Missense_Mutation_p.M308I	NM_000700	NP_000691	P04083	ANXA1_HUMAN	Homo sapiens annexin A1 (ANXA1), mRNA.	308					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AAATTGACATGAATGATATCA	0.403000														144			54		0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	111685	111685	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:111685G>A	uc002cfl.4	-	8	1361	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	RHBDF1_uc010uty.2_Silent_p.F429F|RHBDF1_uc010utz.2_Silent_p.F406F|RHBDF1_uc010bqo.1_Non-coding_Transcript	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	406					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GCCAGTAGGTGAAGAAGGGCC	0.672000														52			9		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16681582	16681582	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:16681582G>A	uc003jft.4	-	31	4688	c.4220C>T	c.(4219-4221)cCa>cTa	p.P1407L	MYO10_uc011cnb.2_Missense_Mutation_p.P36L|MYO10_uc011cnc.2_Missense_Mutation_p.P286L|MYO10_uc011cnd.2_Missense_Mutation_p.P764L|MYO10_uc011cne.2_Missense_Mutation_p.P764L|MYO10_uc010itx.3_Missense_Mutation_p.P1029L	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1407	PH 2.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGACATCTTTGGACTGTTCTT	0.423000														145			17		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1093772	1093772	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:1093772C>T	uc001lsx.1	+	31	5606	c.5579C>T	c.(5578-5580)tCc>tTc	p.S1860F		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1942						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCTCTCGGTCCACCTCTTCC	0.627000														384			42		0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228588893	228588893	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:228588893C>T	uc001hss.3	-	2	762	c.507G>A	c.(505-507)aaG>aaA	p.K169K	TRIM11_uc010pvx.2_Splice_Site_p.M169_splice|TRIM11_uc001hst.1_Silent_p.K169K	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	Homo sapiens tripartite motif containing 11 (TRIM11), mRNA.	169					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				TCTCCACCATCTTCTGTGGAG	0.652000														52			4		0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152739827	152739827	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:152739827C>T	uc002tya.3	-	2	273	c.205G>A	c.(205-207)Gac>Aac	p.D69N	CACNB4_uc002txy.3_Missense_Mutation_p.D35N|CACNB4_uc002txz.3_Missense_Mutation_p.D51N|CACNB4_uc010fnz.3_Missense_Mutation_p.D69N|CACNB4_uc021vre.1_Missense_Mutation_p.D35N|CACNB4_uc002tyb.2_Missense_Mutation_p.D35N	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	69					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GCTTCCCGGTCCTCTTCCAAA	0.483000														149			15		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207789950	207789950	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:207789950T>C	uc001hfy.3	+	32	5482	c.5342T>C	c.(5341-5343)cTt>cCt	p.L1781P	CR1_uc001hfx.3_Missense_Mutation_p.L2231P|CR1_uc021pij.1_Missense_Mutation_p.L1781P	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1781	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCAGCTATCCTTAATGGGAGA	0.403000														99			24		0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152937353	152937353	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:152937353G>A	uc011myu.2	-	4	831	c.645C>T	c.(643-645)atC>atT	p.I215I	PNCK_uc011myt.2_Silent_p.I149I|PNCK_uc004fhz.4_Silent_p.I30I|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_Silent_p.I159I|PNCK_uc011myw.2_Silent_p.I159I	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	132	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGGTGCACGATCCCCAGGC	0.667000														11			6		0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49943421	49943421	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:49943421G>A	uc001ruh.1	+	8	1926	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	KCNH3_uc010smj.1_Missense_Mutation_p.E496K	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	556					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.E556K(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CGACACCACCGAGGTGCGGCC	0.592000														14			3		0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121488400	121488400	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:121488400C>T	uc003ksv.3	+	1	1091	c.715C>T	c.(715-717)Cat>Tat	p.H239Y	ZNF474_uc021ycy.1_Missense_Mutation_p.H239Y	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	239						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CCTTCCTATTCATGAGCCCAA	0.527000														102			17		0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153800796	153800796	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:153800796G>A	uc001fdb.4	-	1	272	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.	10						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGATTCAAGCGAAGAGCATCT	0.433000														105			22		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978256	10978256	+	Silent	SNP	T	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:10978256T>G	uc001qyy.1	-	0	613	c.613A>C	c.(613-615)Agg>Cgg	p.R205R		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	205					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGCATCTGCCTGTTGTGTCTC	0.348000														119			27		0	0	1	0	0
METTL24	728464	broad.mit.edu	37	6	110620208	110620208	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:110620208G>A	uc010kdu.1	-	3	703	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S	METTL24_uc003pub.2_Missense_Mutation_p.P38S	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	Homo sapiens chromosome 6 open reading frame 186 (C6orf186), mRNA.	235						extracellular region											GCTGGATGGGGATCCCGCCAG	0.468000														64			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179465768	179465769	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179465768_179465769CC>TT	uc021vsy.1	-	236	48383_48384	c.48158_48159GG>AA	c.(48157-48159)tgg>tAA	p.W16053*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W9748*|TTN_uc021vta.1_Nonsense_Mutation_p.W9681*|TTN_uc021vtb.1_Nonsense_Mutation_p.W9556*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16980	Ig-like 99.						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)			CAGTAGGGTCCCATGCAAGGCA	0.490000														117			7		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167245759	167245759	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:167245759G>A	uc003fev.1	-	10	1701	c.1397C>T	c.(1396-1398)aCt>aTt	p.T466I	WDR49_uc003feu.1_Missense_Mutation_p.T291I|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	466										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						TCTTATCAGAGTTGGGGCCTT	0.398000														83			12		0	0	1	0	0
MCU	90550	broad.mit.edu	37	10	74644032	74644032	+	Silent	SNP	T	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:74644032T>A	uc001jtc.3	+	6	891	c.870T>A	c.(868-870)gtT>gtA	p.V290V	MCU_uc010qjy.1_Non-coding_Transcript|MCU_uc009xqr.3_Silent_p.V269V|MCU_uc001jtd.3_Silent_p.V241V	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	Homo sapiens mitochondrial calcium uniporter (MCU), nuclear gene encoding mitochondrial protein, mRNA.	290					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						AGGAATATGTTTATCCAGAAG	0.323000														49			14		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99508279	99508279	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:99508279G>A	uc001vnt.2	-	33	3762	c.3707C>T	c.(3706-3708)cCa>cTa	p.P1236L	DOCK9_uc001vnw.2_Missense_Mutation_p.P1235L|DOCK9_uc021rlw.1_Missense_Mutation_p.P1235L|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.P1236L|DOCK9_uc010tis.1_3'UTR|DOCK9_uc010tit.1_3'UTR|DOCK9_uc010tip.1_5'Flank|DOCK9_uc010tiq.1_Missense_Mutation_p.P214L|DOCK9_uc010afu.1_3'UTR	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1236					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGTTGTATATGGAGAAGCTAA	0.363000														35			4		0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148596539	148596539	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:148596539C>T	uc003lpy.2	+	7	938	c.687C>T	c.(685-687)taC>taT	p.Y229Y	ABLIM3_uc003lpz.1_Silent_p.Y229Y|ABLIM3_uc003lqa.1_Silent_p.Y237Y|ABLIM3_uc003lqb.3_Silent_p.Y229Y|ABLIM3_uc003lqc.1_Silent_p.Y229Y|ABLIM3_uc003lqd.1_Silent_p.Y229Y|ABLIM3_uc003lqe.1_Silent_p.Y229Y|ABLIM3_uc003lqf.3_Silent_p.Y229Y	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	229	LIM zinc-binding 4.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCACTACCACCCAACCT	0.517000														64			9		0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30683096	30683096	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:30683096G>A	uc010gvs.2	-	2	612	c.214C>T	c.(214-216)Cca>Tca	p.P72S	TBC1D10A_uc003ahd.3_Intron|TBC1D10A_uc003ahf.3_Intron|TBC1D10A_uc003ahg.3_Intron|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc010gvr.3_Intron			Q9BXI6	TB10A_HUMAN	Homo sapiens GATS protein-like 3 (GATSL3), mRNA.	0						intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGACCCAGTGGGAAGAGGAGG	0.647000											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			5		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184103938	184103938	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:184103938C>T	uc003fov.3	+	14	2169	c.1923C>T	c.(1921-1923)ctC>ctT	p.L641L	CHRD_uc003fow.3_Silent_p.L271L|CHRD_uc003fox.3_Silent_p.L641L|CHRD_uc003foy.3_Silent_p.L271L|CHRD_uc010hyc.3_Silent_p.L231L|CHRD_uc011brr.2_Silent_p.L271L	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	641	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGGGGAGCTCCGAGGGCAGG	0.632000														59			16		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17482077	17482077	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:17482077G>A	uc001mnc.3	-	5	1095	c.969C>T	c.(967-969)atC>atT	p.I323I	ABCC8_uc010rcy.1_Silent_p.I322I	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	323	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGTGGTCCACGATCCCAAAGA	0.602000														151			19		0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24031768	24031768	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:24031768C>T	uc001wkl.2	-	14	1782	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E	AP1G2_uc001wkk.3_Missense_Mutation_p.G410E|AP1G2_uc001wkn.2_Missense_Mutation_p.G101E|AX747770_uc001wko.1_Intron|AP1G2_uc001wkp.1_Non-coding_Transcript	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	482					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CCCATACTCCCCAATGCACCA	0.597000											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			7		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534024	55534024	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:55534024G>A	uc003xsd.1	+	1	646	c.498G>A	c.(496-498)acG>acA	p.T166T	RP1_uc011ldy.1_Silent_p.T166T	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	166	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.T166M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCCGAAGACGAGGCGTGCGG	0.647000														165			27		0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57287820	57287821	+	Missense_Mutation	DNP	CC	TT	TT	rs147794106	by1000genomes	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:57287820_57287821CC>TT	uc002ixi.3	+	0	450_451	c.408_409CC>TT	c.(406-411)agcctt>agTTtt	p.L137F		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	137					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGGACTACAGCCTTCTGCAGGC	0.584000														24			9		0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167525048	167525048	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:167525048G>A	uc003ffa.4	+	5	1096	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	SERPINI1_uc003ffb.4_Missense_Mutation_p.E300K	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	300					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AGTGGAACAGGAAATTGATTT	0.338000														85			13		0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121766504	121766504	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:121766504G>A	uc003vka.3	-	2	493	c.397C>T	c.(397-399)Ctt>Ttt	p.L133F	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.L133F|AASS_uc011knw.2_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	133	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TAATCAATAAGGCGAATTTCC	0.378000														220			48		0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101174522	101174522	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:101174522A>C	uc003yjh.2	+	1	100	c.14A>C	c.(13-15)gAt>gCt	p.D5A	SPAG1_uc003yjg.1_Missense_Mutation_p.D5A|SPAG1_uc003yji.2_Missense_Mutation_p.D5A	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	5					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ACCACCAAAGATTATCCATCA	0.289000														34			8		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156378601	156378601	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:156378601T>C	uc003lwh.2	-	2	658	c.601A>G	c.(601-603)Acc>Gcc	p.T201A	TIMD4_uc010jii.2_Missense_Mutation_p.T201A	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	201	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGCTTGGGGTTAGTGAAAGG	0.542000														108			13		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48452118	48452118	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:48452118G>A	uc003toq.2	+	40	12421	c.12397G>A	c.(12397-12399)Gat>Aat	p.D4133N	ABCA13_uc010kys.1_Missense_Mutation_p.D1207N|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4133					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCAGGCCCTGGATGAGAACCT	0.493000														105			21		0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42341278	42341278	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:42341278G>A	uc002orp.1	-	4	1664	c.680C>T	c.(679-681)tCc>tTc	p.S227F	LYPD4_uc002orq.1_Missense_Mutation_p.S192F	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	227						anchored to membrane|plasma membrane		p.S227S(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						TTGCCTGGAGGATGCTGCACC	0.493000														103			20		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539790	55539790	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:55539790C>T	uc003xsd.1	+	3	3496	c.3348C>T	c.(3346-3348)ccC>ccT	p.P1116P	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1116					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGGTGTTCCCTTTCATTCTG	0.423000														47			9		0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118813129	118813129	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:118813129C>T	uc003ksj.3	+	6	500	c.367C>T	c.(367-369)Cat>Tat	p.H123Y	HSD17B4_uc011cwh.2_Missense_Mutation_p.H105Y|HSD17B4_uc011cwg.2_Missense_Mutation_p.H99Y|HSD17B4_uc011cwi.2_Missense_Mutation_p.H148Y|HSD17B4_uc003ksk.4_5'UTR|HSD17B4_uc011cwj.2_5'UTR|HSD17B4_uc010jcn.2_5'UTR	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	123	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	CCACAGAGTTCATTTGCGGGG	0.343000														113			14		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869853	4869854	+	Missense_Mutation	DNP	CC	TT	TT	rs80199695		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:4869853_4869854CC>TT	uc010qyo.2	-	0	585_586	c.585_586GG>AA	c.(583-588)ttggcc>ttAAcc	p.A196T		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGGGCAGGCCAAACGAGCCA	0.545000														98			25		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35161127	35161127	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:35161127C>T	uc003teq.1	-	13	1687	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		ACCGCTTTTTCCATGAAGTCA	0.343000														78			23		0	0	1	0	0
TMEM178	130733	broad.mit.edu	37	2	39944168	39944168	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:39944168C>T	uc002rrt.3	+	3	751	c.671C>T	c.(670-672)tCc>tTc	p.S224F	TMEM178_uc021vgg.1_Missense_Mutation_p.S42F|TMEM178_uc010fam.2_Missense_Mutation_p.S178F	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA.	224						integral to membrane				endometrium(1)|large_intestine(5)|lung(5)	11		all_hematologic(82;0.248)				TGCACCATTTCCCTCTGTACT	0.413000														139			16		0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19632568	19632568	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:19632568G>A	uc002ykv.3	+	3	990	c.599G>A	c.(598-600)gGa>gAa	p.G200E	CHODL_uc002ykr.3_Missense_Mutation_p.G159E|CHODL_uc002yks.3_Missense_Mutation_p.G159E|CHODL_uc021whr.1_Missense_Mutation_p.G159E|CHODL_uc002ykt.3_Missense_Mutation_p.G159E|CHODL_uc002yku.3_Missense_Mutation_p.G159E|CHODL_uc021whs.1_Missense_Mutation_p.G181E	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	200					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AATCAACCAGGAGACACCCAT	0.358000														108			34		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2676817	2676817	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:2676817C>T	uc009zdu.1	+	12	2065	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	CACNA1C_uc001qkc.2_Silent_p.F584F|CACNA1C_uc001qjz.2_Silent_p.F584F|CACNA1C_uc001qkd.2_Silent_p.F584F|CACNA1C_uc001qke.2_Silent_p.F584F|CACNA1C_uc001qkf.2_Silent_p.F584F|CACNA1C_uc009zdw.1_Silent_p.F584F|CACNA1C_uc001qkg.2_Silent_p.F584F|CACNA1C_uc001qkh.2_Silent_p.F584F|CACNA1C_uc001qkl.2_Silent_p.F584F|CACNA1C_uc001qkj.2_Silent_p.F584F|CACNA1C_uc001qkk.2_Silent_p.F584F|CACNA1C_uc001qkn.2_Silent_p.F584F|CACNA1C_uc001qkm.2_Silent_p.F584F|CACNA1C_uc001qko.2_Silent_p.F584F|CACNA1C_uc001qkp.2_Silent_p.F584F|CACNA1C_uc001qkq.2_Silent_p.F584F|CACNA1C_uc001qku.2_Silent_p.F584F|CACNA1C_uc001qkr.2_Silent_p.F584F|CACNA1C_uc001qks.2_Silent_p.F584F|CACNA1C_uc001qkt.2_Silent_p.F584F|CACNA1C_uc009zdv.1_Silent_p.F581F|CACNA1C_uc001qkb.2_Silent_p.F584F|CACNA1C_uc001qka.1_Silent_p.F119F|CACNA1C_uc001qki.1_Silent_p.F320F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	584					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGGCCTACTTCGTGTCCCTCT	0.607000														26			6		0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47753835	47753835	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:47753835G>A	uc002lee.2	-	7	1552	c.1461C>T	c.(1459-1461)gtC>gtT	p.V487V		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	487										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GGACCTCCTGGACCTTGTCCA	0.517000														68			18		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162735658	162735658	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:162735658G>A	uc002ubx.4	+	8	1150	c.966G>A	c.(964-966)atG>atA	p.M322I	SLC4A10_uc010fpa.1_Missense_Mutation_p.M334I|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.M303I|SLC4A10_uc002uby.4_Missense_Mutation_p.M292I	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	322					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGCATTTTATGAAAAAGATTC	0.398000														51			4		0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196748424	196748424	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:196748424G>A	uc001gtl.3	+	1	278	c.191G>A	c.(190-192)gGa>gAa	p.G64E	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.G64E|CFHR1_uc010poy.2_Missense_Mutation_p.G64E|CFHR1_uc001gtm.3_Missense_Mutation_p.G27E	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	64	Sushi 1.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ACTCCTTCAGGAAGTTACTGG	0.393000														137			18		0	0	1	0	0
TRAF6	7189	broad.mit.edu	37	11	36511689	36511689	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:36511689G>A	uc001mwq.2	-	7	1649	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L	TRAF6_uc001mws.2_Missense_Mutation_p.P423L	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	Homo sapiens TNF receptor-associated factor 6 (TRAF6), transcript variant 1, mRNA.	423	MATH.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of osteoclast differentiation|protein K63-linked ubiquitination|protein autoubiquitination|response to interleukin-1|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein N-terminus binding|protein kinase B binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GAAGGGCCAAGGGAGGTGGCT	0.483000														56			8		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4153796	4153796	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:4153796C>T	uc003smx.3	+	24	3852	c.3713C>T	c.(3712-3714)aCc>aTc	p.T1238I	SDK1_uc010kso.3_Missense_Mutation_p.T514I	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1238	Fibronectin type-III 6.				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)		AGAGAATTCACCATCGAGGAG	0.632000														64			15		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407152	38407152	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:38407152C>T	uc003jlc.2	+	7	1397	c.1051C>T	c.(1051-1053)Ctc>Ttc	p.L351F	EGFLAM_uc003jlb.2_Missense_Mutation_p.L351F|EGFLAM_uc003jle.2_Missense_Mutation_p.L117F|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	351	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGATGAAACTCTCTGCTCTGC	0.552000														72			8		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402473	248402473	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:248402473G>A	uc010pzh.2	+	0	243	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACCCAAGATGATCTTCAGCT	0.463000														115			27		0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123030766	123030766	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:123030766C>G	uc001ucv.3	+	8	876	c.713C>G	c.(712-714)tCc>tGc	p.S238C	KNTC1_uc010taf.2_Missense_Mutation_p.S201C	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	238					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCAGATTCTTCCAAGAAAGGA	0.323000														32			3		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48696750	48696750	+	Silent	SNP	G	A	A	rs149132560	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:48696750G>A	uc003cuf.1	-	2	3528	c.3528C>T	c.(3526-3528)atC>atT	p.I1176I	CELSR3_uc003cul.3_Silent_p.I1106I	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1106	Cadherin 9.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding	p.I1106I(1)		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)		TCCCCTCCACGATCTGGTACA	0.522000														94			24		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131521406	131521406	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:131521406G>A	uc021voy.1	+	0	1761	c.1761G>A	c.(1759-1761)ggG>ggA	p.G587G	FAM123C_uc002trw.2_Silent_p.G587G|FAM123C_uc010fmv.2_Silent_p.G587G|FAM123C_uc010fms.1_Silent_p.G587G|FAM123C_uc010fmt.1_Silent_p.G587G|FAM123C_uc010fmu.1_Silent_p.G587G	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	587										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CCCTCGGAGGGGCCACACAAG	0.642000														62			13		0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22779166	22779166	+	RNA	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:22779166C>T	uc002nqu.4	+	0		c.108C>T								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		CCTCCCTTCCCGCCCTGCCAT	0.602000														4			5		0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45014813	45014813	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:45014813C>A	uc010zxr.1	-	8	837	c.627G>T	c.(625-627)caG>caT	p.Q209H	ELMO2_uc002xrt.1_Missense_Mutation_p.Q209H|ELMO2_uc002xru.1_Missense_Mutation_p.Q209H|ELMO2_uc010zxs.1_Missense_Mutation_p.Q26H|ELMO2_uc002xrw.3_Missense_Mutation_p.Q26H|ELMO2_uc002xrx.1_Missense_Mutation_p.Q209H	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	209					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CGGCTATCTTCTGGTACAGAC	0.532000														123			17		1.56452e-12	1.58978e-12	1	1	0
ANO4	121601	broad.mit.edu	37	12	101505352	101505352	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:101505352G>A	uc010svm.1	+	23	2886	c.2314G>A	c.(2314-2316)Gga>Aga	p.G772R	ANO4_uc001thw.2_Missense_Mutation_p.G737R|ANO4_uc001thx.2_Missense_Mutation_p.G772R|ANO4_uc001thy.2_Missense_Mutation_p.G292R	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	772						chloride channel complex	chloride channel activity	p.G771G(1)|p.G771V(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AATTTGGTATGGAATTCTTGA	0.318000										HNSCC(74;0.22)				76			17		0	0	1	0	0
SLC37A3	84255	broad.mit.edu	37	7	140051896	140051896	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:140051896G>A	uc003vvo.3	-	7	835	c.669C>T	c.(667-669)atC>atT	p.I223I	SLC37A3_uc003vvp.3_Silent_p.I223I|SLC37A3_uc010lnh.3_Silent_p.I223I|SLC37A3_uc011kqz.2_Non-coding_Transcript|SLC37A3_uc011kra.1_Silent_p.I223I|SLC37A3_uc011krb.1_Silent_p.I195I	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 3 (SLC37A3), transcript variant 1, mRNA.	223					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GTCCAAAGAAGATAACGATCC	0.507000														32			3		0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178846721	178846721	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:178846721G>A	uc001glz.3	+	8	1034	c.696G>A	c.(694-696)atG>atA	p.M232I	RALGPS2_uc001gly.1_Missense_Mutation_p.M232I|RALGPS2_uc010pnb.2_Missense_Mutation_p.M232I	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	232	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CAAATTTAATGAATAATATCC	0.338000														53			12		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128477557	128477557	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:128477557C>T	uc003vnz.4	+	3	1014	c.805C>T	c.(805-807)Cga>Tga	p.R269*	FLNC_uc003voa.4_Nonsense_Mutation_p.R269*	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	269					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGCCCCTGTTCGATCCAAGCA	0.597000														90			20		0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44841617	44841617	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:44841617G>A	uc002zdf.2	-	4	527	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	134	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						ACGGCCGACAGGATTTGCCAG	0.562000														38			9		0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19553113	19553113	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:19553113C>T	uc002rdc.3	-	1	757	c.454G>A	c.(454-456)Gac>Aac	p.D152N		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	Homo sapiens odd-skipped related 1 (Drosophila) (OSR1), mRNA.	152					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TTGGTCACGTCGAGGAGGGCA	0.612000														57			7		0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12077166	12077166	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:12077166G>A	uc001ila.3	-	0	731	c.257C>T	c.(256-258)tCa>tTa	p.S86L	UPF2_uc001ilb.3_Missense_Mutation_p.S86L|UPF2_uc001ilc.3_Missense_Mutation_p.S86L|UPF2_uc009xiz.2_Missense_Mutation_p.S86L	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	86	Glu/Lys-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ttttttctttgattcttcctC	0.403000														35			8		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034594	52034594	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:52034594C>T	uc002pwy.3	-	1	455	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIGLEC6_uc002pwz.3_Missense_Mutation_p.E83K|SIGLEC6_uc010ydb.2_Missense_Mutation_p.E47K|SIGLEC6_uc010ydc.2_Missense_Mutation_p.E83K|SIGLEC6_uc002pxa.3_Missense_Mutation_p.E83K|SIGLEC6_uc010eoz.2_Missense_Mutation_p.E83K|SIGLEC6_uc010epa.2_Missense_Mutation_p.E72K|SIGLEC6_uc010epb.2_Missense_Mutation_p.E36K	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	83	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGCACTTCTTCGTCTGGGTCG	0.582000														86			19		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16259672	16259672	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:16259672C>T	uc002den.4	-	22	3151	c.3114G>A	c.(3112-3114)cgG>cgA	p.R1038R	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1038	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CAATGGGTGTCCGCTCAAAGA	0.587000														67			9		0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40093774	40093774	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:40093774G>A	uc001zkj.1	-	2	1973	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	GPR176_uc010uck.1_Silent_p.L309L	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	369					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		ACATCTCCAGGAGCTGGCTAC	0.567000														132			17		0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430419	29430419	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:29430419G>A	uc003nmi.3	+	2	1316	c.873G>A	c.(871-873)agG>agA	p.R291R	OR2H1_uc003nmj.1_Silent_p.R291R|OR2H1_uc010jri.2_Silent_p.R213R|OR2H1_uc021ytr.1_Silent_p.R291R	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						ACACCCTGAGGAACAAGGAGA	0.483000														51			14		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140251231	140251231	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:140251231G>A	uc003etn.3	+	8	1600	c.1410G>A	c.(1408-1410)atG>atA	p.M470I	CLSTN2_uc003etm.2_Missense_Mutation_p.M470I	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	470					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.Y469H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTTATACATGGATGGAGCAA	0.433000										HNSCC(16;0.037)				115			17		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582783	82582783	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:82582783C>T	uc003uhx.2	-	4	7775	c.7486G>A	c.(7486-7488)Gga>Aga	p.G2496R	PCLO_uc003uhv.2_Missense_Mutation_p.G2496R|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2427					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						AATACAAGTCCAGATGGAATT	0.453000														89			16		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96772123	96772123	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:96772123G>A	uc001yfi.3	-	30	4901	c.4536C>T	c.(4534-4536)atC>atT	p.I1512I		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1512										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CATCAACCATGATTTTTATAA	0.368000														35			12		0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599072	151599072	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:151599072C>T	uc003ezf.2	+	2	846	c.741C>T	c.(739-741)ccC>ccT	p.P247P		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	247						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TTTTTACACCCTATCACGTCA	0.488000														264			41		0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184008046	184008046	+	Missense_Mutation	SNP	G	A	A	rs142884324	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:184008046G>A	uc003fni.4	+	13	1947	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	ECE2_uc011brh.1_Missense_Mutation_p.E490K|ECE2_uc003fnl.4_Missense_Mutation_p.E565K|ECE2_uc003fnm.4_Missense_Mutation_p.E519K|ECE2_uc003fnk.4_Missense_Mutation_p.E490K|ECE2_uc011bri.1_Missense_Mutation_p.E552K|ECE2_uc010hxv.3_Missense_Mutation_p.E281K	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	637	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCACAGTACGAAATTTCTGA	0.448000														21			4		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42263110	42263110	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:42263110C>T	uc003bbi.3	+	1	533	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	bK250D10.C22.8_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	122	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CACCTCAGTTCCCACCACACC	0.582000														124			8		0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120079255	120079255	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:120079255C>T	uc003icp.4	+	3	538	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	109							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CTTGACTCCTCCCAACACCCC	0.453000														152			41		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106707	168106707	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:168106707G>A	uc002udx.3	+	8	8894	c.8805G>A	c.(8803-8805)cgG>cgA	p.R2935R	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.R2760R|XIRP2_uc010fpq.3_Silent_p.R2713R|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2760					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						AATCCCAGCGGGATGATGGAA	0.383000														91			11		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67040682	67040682	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:67040682C>T	uc003xvv.3	+	1	538	c.312C>T	c.(310-312)atC>atT	p.I104I	TRIM55_uc003xvu.3_Silent_p.I104I|TRIM55_uc003xvw.3_Silent_p.I104I|TRIM55_uc003xvx.3_Silent_p.I104I	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	104						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGGAAAATATCATTGACATCT	0.458000														112			29		0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45853043	45853043	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:45853043C>T	uc010zxy.1	-	18	3286	c.3204G>A	c.(3202-3204)tgG>tgA	p.W1068*	ZMYND8_uc010ghq.1_Nonsense_Mutation_p.W672*|ZMYND8_uc010ghr.1_Nonsense_Mutation_p.W943*|ZMYND8_uc002xst.1_Nonsense_Mutation_p.W923*|ZMYND8_uc002xsu.1_Nonsense_Mutation_p.W914*|ZMYND8_uc002xsv.1_Nonsense_Mutation_p.W969*|ZMYND8_uc002xsw.1_Nonsense_Mutation_p.W747*|ZMYND8_uc002xsx.1_Nonsense_Mutation_p.W747*|ZMYND8_uc002xsy.1_Nonsense_Mutation_p.W970*|ZMYND8_uc002xsz.1_Nonsense_Mutation_p.W932*|ZMYND8_uc002xta.1_Nonsense_Mutation_p.W1041*|ZMYND8_uc002xtb.1_Nonsense_Mutation_p.W1015*|ZMYND8_uc002xss.2_Nonsense_Mutation_p.W1041*|ZMYND8_uc010zxz.1_Nonsense_Mutation_p.W909*|ZMYND8_uc002xtc.1_Nonsense_Mutation_p.W1015*|ZMYND8_uc002xtd.1_Nonsense_Mutation_p.W990*|ZMYND8_uc002xte.1_Nonsense_Mutation_p.W995*|ZMYND8_uc010zya.1_Nonsense_Mutation_p.W1041*|ZMYND8_uc002xtf.1_Nonsense_Mutation_p.W1061*|ZMYND8_uc002xsr.1_Nonsense_Mutation_p.W140*	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	1041							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGCTAGTGTTCCAACAGCAGT	0.572000														193			52		0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23699316	23699316	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:23699316T>A	uc001rfw.3	-	11	1633	c.1531A>T	c.(1531-1533)Aaa>Taa	p.K511*	SOX5_uc001rfx.3_Nonsense_Mutation_p.K498*|SOX5_uc001rfy.3_Nonsense_Mutation_p.K390*|SOX5_uc001rfv.3_Nonsense_Mutation_p.K125*|SOX5_uc010siv.2_Nonsense_Mutation_p.K498*|SOX5_uc010siw.1_Intron|SOX5_uc001rfz.1_Nonsense_Mutation_p.K463*	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	511					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.K511*(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TCATTCTGTTTAACTGCCAGT	0.313000														89			27		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16918807	16918807	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:16918807C>T	uc002neu.4	+	17	4569	c.4147C>T	c.(4147-4149)Ccc>Tcc	p.P1383S	NWD1_uc002net.4_Missense_Mutation_p.P1248S|NWD1_uc002nev.4_Missense_Mutation_p.P1177S|NWD1_uc021uqg.1_Missense_Mutation_p.P1248S	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1383							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						CAAAGCGTTTCCCTTGGAGAC	0.587000														130			22		0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19389562	19389562	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:19389562G>A	uc002nmh.3	-	10	1588	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	SUGP1_uc002nmf.3_Silent_p.F74F|SUGP1_uc002nmg.3_Silent_p.F74F|SUGP1_uc002nmi.3_Silent_p.F314F|SUGP1_uc002nmj.3_Silent_p.F314F|SUGP1_uc002nme.3_Silent_p.F74F	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	524					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						AGTCTCCGATGAAGTGCTTGC	0.592000														40			3		0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58190113	58190113	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:58190113C>T	uc002qpu.3	+	4	1839	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	381					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGCCACAAAACCAACCTGCGG	0.468000														148			34		0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41895271	41895271	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:41895271C>T	uc003orl.3	+	1	764	c.428C>T	c.(427-429)gCc>gTc	p.A143V		NM_004053	NP_004044	Q13895	BYST_HUMAN	Homo sapiens bystin-like (BYSL), mRNA.	143					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AACCCTCCTGCCAGGTAGGCC	0.517000														95			23		0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36107150	36107150	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:36107150G>A	uc003ols.3	+	11	1196	c.1098G>A	c.(1096-1098)taG>taA	p.*366*	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	0					Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						TGAAGCTGTAGGGACTCATCT	0.537000														95			21		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71892430	71892430	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:71892430G>A	uc010fen.3	+	46	5454	c.5313G>A	c.(5311-5313)gaG>gaA	p.E1771E	DYSF_uc010fei.3_Silent_p.E1749E|DYSF_uc010feh.3_Silent_p.E1739E|DYSF_uc002sig.4_Silent_p.E1718E|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.E1763E|DYSF_uc010fee.3_Silent_p.E1753E|DYSF_uc010fef.3_Silent_p.E1770E|DYSF_uc002sie.3_Silent_p.E1732E|DYSF_uc010feo.3_Silent_p.E1764E|DYSF_uc010fej.3_Silent_p.E1740E|DYSF_uc010fel.3_Silent_p.E1719E|DYSF_uc010fem.3_Silent_p.E1754E|DYSF_uc002sif.3_Silent_p.E1733E|DYSF_uc010fek.3_Silent_p.E1750E|DYSF_uc010yqy.2_Silent_p.E613E|DYSF_uc010yqz.2_Silent_p.E493E	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1732						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCATTGAAGAGATAGGTGAGC	0.522000														81			13		0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5667130	5667130	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:5667130C>T	uc002mcg.3	+	17	2579	c.2408C>T	c.(2407-2409)tCt>tTt	p.S803F	SAFB_uc002mcf.3_Missense_Mutation_p.S803F|SAFB_uc002mce.4_Missense_Mutation_p.S802F|SAFB_uc010xis.2_Missense_Mutation_p.S734F|SAFB_uc010xit.2_Missense_Mutation_p.S645F|SAFB_uc010xir.2_Missense_Mutation_p.S802F|SAFB_uc010xiu.2_Missense_Mutation_p.S602F	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	803	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGCTATGGCTCTGACAAGAGG	0.677000														42			9		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77779699	77779699	+	Silent	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:77779699T>C	uc021rks.1	-	24	3891	c.3624A>G	c.(3622-3624)ttA>ttG	p.L1208L	MYCBP2_uc010aev.3_Silent_p.L574L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACCCATTTTTAAGTCCTGCA	0.333000														42			5		0	0	1	0	0
GOT1L1	137362	broad.mit.edu	37	8	37794358	37794358	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:37794358G>A	uc011lbj.1	-	5	743	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.	215					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ccttgacagggaatatcaaaa	0.408000														22			4		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82387949	82387949	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:82387949A>C	uc003uhx.2	-	24	15660	c.15371T>G	c.(15370-15372)cTc>cGc	p.L5124R		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	5047					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						TCTTTTTCTGAGATCCACTTT	0.378000														162			32		0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564297	139564297	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:139564297G>A	uc021zfy.1	-	9	1586	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	474						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTCTTCATCGGAGTTGTGCTG	0.463000														82			19		0	0	1	0	0
HCP5	10866	broad.mit.edu	37	6	31431022	31431022	+	RNA	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:31431022C>T	uc003ntl.3	+	0		c.66C>T			HCP5_uc021yup.1_5'Flank			Q6MZN7	HCP5_HUMAN	Homo sapiens HLA complex P5 (non-protein coding) (HCP5), non-coding RNA.						defense response					urinary_tract(1)	1						TCCTGCTGTTCTCGGGAGCCG	0.662000														15			3		0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136337266	136337266	+	Silent	SNP	G	A	A	rs139167395		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:136337266G>A	uc004cee.3	-	9	1496	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	SLC2A6_uc004cef.3_Silent_p.F405F|SLC2A6_uc004ceg.3_Silent_p.F444F	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	467						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TGGCCGCGAAGAAGAAGAAAG	0.647000														61			9		0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116833380	116833380	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:116833380C>T	uc003pwy.3	+	0	573	c.521C>T	c.(520-522)tCc>tTc	p.S174F	BET3L_uc003pwx.3_5'UTR|BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	174						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		CTGAAACTCTCCCTTCAGGCC	0.468000														73			16		0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48883249	48883249	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:48883249C>T	uc003xqk.2	+	11	2439	c.1613C>T	c.(1612-1614)tCc>tTc	p.S538F	MCM4_uc003xql.2_Missense_Mutation_p.S538F|MCM4_uc011ldi.2_Missense_Mutation_p.S525F	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	538	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GGGAAGGGCTCCAGTGCAGTT	0.582000														57			7		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43926839	43926839	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:43926839G>A	uc002xnn.2	-	6	1584	c.1397C>T	c.(1396-1398)tCg>tTg	p.S466L	MATN4_uc002xnp.2_Missense_Mutation_p.S384L|MATN4_uc002xno.2_Missense_Mutation_p.S425L|MATN4_uc010zwr.1_Missense_Mutation_p.S414L|MATN4_uc002xnr.1_Missense_Mutation_p.S466L	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	507	VWFA 2.					extracellular region	protein binding	p.S466S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGCCCACACCGAGATGTCATC	0.672000														101			29		0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49364935	49364935	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:49364935G>A	uc002pkx.3	-	3	758	c.207C>T	c.(205-207)ctC>ctT	p.L69L	PLEKHA4_uc010eml.3_Silent_p.L69L	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	69	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TCCAGAGACGGAGCCCCGAGC	0.617000														40			5		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39230485	39230485	+	Missense_Mutation	SNP	C	T	T	rs145798293		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:39230485C>T	uc003cjk.2	-	1	681	c.452G>A	c.(451-453)gGa>gAa	p.G151E	XIRP1_uc003cji.3_Missense_Mutation_p.G151E|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.G151E	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	151							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACGAACGTCTCCTCCACCTGG	0.622000														72			10		0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174228136	174228136	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:174228136T>G	uc002uic.1	+	3	698	c.567T>G	c.(565-567)agT>agG	p.S189R	CDCA7_uc002uid.1_Missense_Mutation_p.S110R|CDCA7_uc010zej.1_Missense_Mutation_p.S145R|CDCA7_uc010zek.1_Missense_Mutation_p.S68R	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	110					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			AAGATGAAAGTGGAATGAATT	0.418000														47			9		0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217688184	217688185	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:217688184_217688185GG>AA	uc001hlf.1	-	5	1241_1242	c.1145_1146CC>TT	c.(1144-1146)tcc>tTT	p.S382F		NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	382						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GAGAATCCGGGGAAAAATGAAC	0.356000														55			4		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39379267	39379267	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:39379267C>T	uc003thb.2	+	5	681	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	POU6F2_uc022acb.1_Nonsense_Mutation_p.Q180*|POU6F2_uc010kxo.3_Nonsense_Mutation_p.Q172*	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	180	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CTCCCAGCTCcagcagctcca	0.597000														26			6		0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39879936	39879936	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:39879936C>T	uc002old.3	-	5	622	c.447G>A	c.(445-447)gaG>gaA	p.E149E	PAF1_uc010xuv.2_Non-coding_Transcript|PAF1_uc002ole.1_Silent_p.E139E|MED29_uc002olf.3_5'Flank|MED29_uc010xux.2_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA.	149					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.E149K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|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)			CCTCAGGCTTCTCATTGGAGA	0.498000														68			17		0	0	1	0	0
KRTAP23-1	337963	broad.mit.edu	37	21	31720888	31720888	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:31720888G>A	uc002yny.1	-	0	37	c.37C>T	c.(37-39)Cat>Tat	p.H13Y		NM_181624	NP_853655	A1A580	KR231_HUMAN	Homo sapiens keratin associated protein 23-1 (KRTAP23-1), mRNA.	13						intermediate filament				large_intestine(1)|lung(4)|prostate(1)	6						TCACAGGAATGGGAGGAGAAG	0.547000														124			10		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400173	47400173	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:47400173G>A	uc001cqp.4	-	6	900	c.849C>T	c.(847-849)atC>atT	p.I283I	CYP4A11_uc001cqq.2_Silent_p.I283I|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	283					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TCTTCCTCTTGATCTTCTCCA	0.493000														133			12		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57286265	57286265	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:57286265C>T	uc002qnr.2	-	10	1757	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Missense_Mutation_p.D255N|PEG3_uc010ygq.1_Missense_Mutation_p.D255N|PEG3_uc010etp.2_Missense_Mutation_p.D459N|PEG3_uc010ygs.1_Missense_Mutation_p.D459N|PEG3_uc002qnq.2_Missense_Mutation_p.D459N	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	597					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCAACGTAGTCATGTTTCCGC	0.468000														58			14		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317348	30317348	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:30317348C>T	uc009xle.2	-	2	1866	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	KIAA1462_uc001iux.3_Missense_Mutation_p.E577K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.E439K	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	577								p.E577*(2)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AATATAGTCTCGTTCATTTTT	0.418000														110			24		0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96371777	96371777	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:96371777G>A	uc001tem.1	-	17	1896	c.1599C>T	c.(1597-1599)tcC>tcT	p.S533S	HAL_uc010sux.1_Silent_p.S533S|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Silent_p.S325S	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	533					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	p.S533F(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ATCCTCCCATGGAGACGTGGT	0.592000														90			16		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164783075	164783075	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:164783075A>G	uc003fei.3	-	6	844	c.781T>C	c.(781-783)Ttt>Ctt	p.F261L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	261	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|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)	TCTCGAGTAAAAATTGGCCAT	0.318000										HNSCC(35;0.089)				61			13		0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40696249	40696249	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:40696249C>T	uc002hzv.3	+	5	2565	c.2225C>T	c.(2224-2226)tCt>tTt	p.S742F		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	742						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GTGGCCGGCTCTTGGTGATAG	0.577000														40			12		0	0	1	0	0
CELA2A	63036	broad.mit.edu	37	1	15793991	15793991	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:15793991C>T	uc001awk.3	+	6	776	c.750C>T	c.(748-750)tcC>tcT	p.S250S		NM_033440	NP_254275	P08217	CEL2A_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA.	250	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						ACAAGCCCTCCGTCTTCACGC	0.627000														95			10		0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978286	45978286	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:45978286A>T	uc002zfj.1	-	0	358	c.313T>A	c.(313-315)Tgc>Agc	p.C105S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	105	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						actggcttgcagcagacaggc	0.647000														295			24		0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9876553	9876553	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:9876553G>A	uc003btg.3	+	11	2361	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	TTLL3_uc003btd.4_3'UTR|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_3'UTR|TTLL3_uc010hco.1_3'UTR|TTLL3_uc003bth.4_Missense_Mutation_p.D417N|TTLL3_uc011atj.2_Missense_Mutation_p.D600N|TTLL3_uc003btj.4_3'UTR|TTLL3_uc003bti.4_Missense_Mutation_p.D417N	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	629					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ACCGAACCTTGATTTCAAGGT	0.597000														90			25		0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28407116	28407116	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:28407116G>A	uc002het.3	+	15	3246	c.3054G>A	c.(3052-3054)aaG>aaA	p.K1018K	EFCAB5_uc010cse.3_Silent_p.K773K|EFCAB5_uc010csf.3_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	1018							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAAATAAAAAGATCAGTGCTC	0.433000														63			15		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112911	59112911	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:59112911C>T	uc001xdw.3	+	3	1734	c.1570C>T	c.(1570-1572)Ccc>Tcc	p.P524S	DACT1_uc010trv.2_Missense_Mutation_p.P243S|DACT1_uc001xdx.3_Missense_Mutation_p.P487S|DACT1_uc010trw.2_Missense_Mutation_p.P243S	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	524					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGCCACTCCTCCCCTGCTGTC	0.602000														104			40		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123742403	123742403	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:123742403G>A	uc004bkv.3	-	27	3646	c.3616C>T	c.(3616-3618)Cgt>Tgt	p.R1206C		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1206					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACAATTGAACGAAACTGTGGG	0.408000														63			18		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138640956	138640956	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:138640956C>T	uc003qhu.3	+	27	4762	c.4591C>T	c.(4591-4593)Cac>Tac	p.H1531Y		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1531					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAATTTCAAGCACGCTATTGG	0.498000														69			10		0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161681104	161681105	+	Nonsense_Mutation	DNP	CC	TT	TT	rs148028138	by1000genomes	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:161681104_161681105CC>TT	uc001gbe.3	+	3	650_651	c.408_409CC>TT	c.(406-411)taccga>taTTga	p.R137*	FCRLA_uc001gbg.3_Intron|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Nonsense_Mutation_p.R131*|FCRLA_uc001gbf.3_Intron|FCRLA_uc009wuo.3_Intron	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	114	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGACCTTCTACCGAGATGGCTC	0.589000														63			13		0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145608125	145608125	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:145608125G>A	uc001eog.3	-	3	654	c.611C>T	c.(610-612)cCt>cTt	p.P204L	RNF115_uc001eoj.3_5'Flank|POLR3C_uc001eoh.3_Missense_Mutation_p.P191L|POLR3C_uc009wix.3_Missense_Mutation_p.P191L	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.	191					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GCTGAGTTTAGGAACCAGGTA	0.453000														136			25		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800836	27800836	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:27800836G>A	uc002rkz.4	+	0	1448	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	466										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACAACCCCAGGACCACTGGGT	0.468000														85			12		0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228033180	228033180	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:228033180C>T	uc001hrh.3	+	3	593	c.593C>T	c.(592-594)tCa>tTa	p.S198L		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	198	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGTGAGACCTCAGACGAGCTG	0.642000														28			3		0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40034557	40034558	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:40034557_40034558GG>AA	uc001cdl.2	-	5	1690_1691	c.792_793CC>TT	c.(790-795)ggccgt>ggTTgt	p.R265C	PABPC4_uc010oiv.1_Missense_Mutation_p.R265C|PABPC4_uc001cdm.2_Missense_Mutation_p.R265C|SNORA55_uc001cdo.1_5'Flank	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	265	RRM 3.				RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTTGTGCACGGCCTACAAATA	0.396000														151			15		0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21988812	21988812	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:21988812C>T	uc002zve.3	+	2	667	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L	CCDC116_uc011aih.1_Silent_p.L192L	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	192										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GGACAAACTCCTGCTGGAGAA	0.637000														47			13		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175086223	175086223	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:175086223G>A	uc001gkl.1	+	9	2381	c.2268G>A	c.(2266-2268)ggG>ggA	p.G756G		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	756	Fibronectin type-III 6.				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)		TTCCGGTGGGGAAGGAGCAGA	0.652000														128			25		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155203396	155203396	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:155203396C>T	uc021xge.1	-	21	3024	c.2747G>A	c.(2746-2748)aGa>aAa	p.R916K	PLCH1_uc021xgd.1_Missense_Mutation_p.R916K|PLCH1_uc021xgf.1_Missense_Mutation_p.R878K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	916					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)			TCGCAGAATTCTATCTCCAAT	0.478000														51			10		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680100	43680100	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:43680100C>T	uc002ovu.3	-	2	762	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.E211K	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	211	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGTCCTGTTTCATTTCTCGTG	0.502000														147			32		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70450983	70450983	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:70450983C>T	uc002lkw.3	-	6	1082	c.798G>A	c.(796-798)gtG>gtA	p.V266V	NETO1_uc002lky.2_Silent_p.V266V	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	266	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ACATGCGGATCACCCCAAGAC	0.478000														151			51		0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190011	58190011	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:58190011G>A	uc010rkg.2	-	0	776	c.724C>T	c.(724-726)Cac>Tac	p.H242Y		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCAGTGAAGTGAGAGGCACAG	0.448000														44			16		0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18260571	18260571	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:18260571G>A	uc004cyl.2	-	13	2119	c.1962C>T	c.(1960-1962)ctC>ctT	p.L654L	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	654	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GTTGCCTGAAGAGGTCGGCGA	0.473000														67			32		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38860889	38860889	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:38860889C>T	uc002oih.4	+	27	3291	c.3204C>T	c.(3202-3204)ttC>ttT	p.F1068F	CATSPERG_uc002oig.4_Silent_p.F1028F|CATSPERG_uc002oif.4_Silent_p.F708F|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1068					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GGGCCCTTTTCATCATCATGG	0.587000														37			11		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463420	26463420	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:26463420G>A	uc001isn.2	+	29	4587	c.4227G>A	c.(4225-4227)aaG>aaA	p.K1409K	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1409					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCAAGAAGAAGGATAACAAAG	0.318000														91			16		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929509	121929509	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:121929509C>T	uc004bkc.2	-	7	2595	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	713					cell cycle arrest|cell death	cytoplasm	protein binding	p.P712L(1)|p.P712T(1)		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						GCTGGGGTTTCCCCGGGGCCA	0.552000														74			26		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394380	154394380	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:154394380G>A	uc010jih.1	+	0	1121	c.961G>A	c.(961-963)Gag>Aag	p.E321K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	321	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCAATCTAGAGGAAACATT	0.418000														231			18		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40770557	40770557	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:40770557G>A	uc002xkg.3	-	17	2952	c.2768C>T	c.(2767-2769)tCc>tTc	p.S923F	PTPRT_uc010ggj.3_Missense_Mutation_p.S942F|PTPRT_uc010ggi.3_Missense_Mutation_p.S126F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	923	Tyrosine-protein phosphatase 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)				GCACCTACAGGATATGATGTT	0.453000														211			40		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51507963	51507963	+	Silent	SNP	C	T	T	rs141974163		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:51507963C>T	uc001zyz.4	-	7	1046	c.795G>A	c.(793-795)agG>agA	p.R265R	CYP19A1_uc001zza.4_Silent_p.R265R|CYP19A1_uc001zzb.2_Silent_p.R265R|CYP19A1_uc001zzc.1_Non-coding_Transcript	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	265					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CTGTGGAAATCCTGCGTCTTT	0.373000														112			13		0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688321	55688321	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:55688321C>T	uc010sph.2	-	0	696	c.696G>A	c.(694-696)agG>agA	p.R232R		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATGCTTTGTTCCTTTGCTGTG	0.393000														69			16		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183696314	183696314	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:183696314C>T	uc003fmg.3	-	8	1438	c.1273G>A	c.(1273-1275)Ggc>Agc	p.G425S	ABCC5_uc011bqt.2_5'UTR|ABCC5_uc010hxl.3_Missense_Mutation_p.G425S	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	425	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGATCGAAGCCCAGGGTCATA	0.512000														56			14		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21733376	21733376	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:21733376G>A	uc001rfb.3	-	1	458	c.203C>T	c.(202-204)cCa>cTa	p.P68L		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	68					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTCAAAATATGGACCTATCAG	0.413000														133			26		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7833751	7833751	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:7833751A>T	uc010dvt.3	+	6	1195	c.1077A>T	c.(1075-1077)gaA>gaT	p.E359D	CLEC4M_uc002mih.3_Missense_Mutation_p.E336D|CLEC4M_uc010xjw.2_Missense_Mutation_p.E292D|CLEC4M_uc010dvs.3_Missense_Mutation_p.E335D|CLEC4M_uc010xjx.2_Missense_Mutation_p.E308D|CLEC4M_uc002mhz.3_Missense_Mutation_p.T230S|CLEC4M_uc002mic.3_Missense_Mutation_p.T294S|CLEC4M_uc002mia.3_Missense_Mutation_p.E223D	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	359	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						ACAGTGGAGAACCCAACAATA	0.507000														110			33		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148767728	148767728	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:148767728G>A	uc003wfh.2	-	3	2273	c.2136C>T	c.(2134-2136)aaC>aaT	p.N712N	ZNF786_uc011kuk.1_Silent_p.N675N|ZNF786_uc003wfi.2_Silent_p.N626N	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTTCCCGGAAGTTCTTGTCAC	0.582000														164			35		0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365848	7365848	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:7365848G>T	uc002ghc.4	-	3	2703	c.2453C>A	c.(2452-2454)gCc>gAc	p.A818D	ZBTB4_uc002ghd.4_Missense_Mutation_p.A818D	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	818					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CTCTTGGGGGGCTTCCTCCTT	0.652000														35			11		1.33987e-11	1.36034e-11	1	1	0
SORCS2	57537	broad.mit.edu	37	4	7666117	7666117	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:7666117C>T	uc003gkb.4	+	6	990	c.990C>T	c.(988-990)tcC>tcT	p.S330S	SORCS2_uc011bwi.2_Silent_p.S158S	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	330						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACAATTGCTCCGAGAAGATGC	0.587000														47			7		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32808805	32808805	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:32808805C>T	uc001utx.3	+	41	6118	c.5622C>T	c.(5620-5622)ttC>ttT	p.F1874F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1874					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)		TCCAGATATTCCGGGCCCTCA	0.517000														52			8		0	0	1	0	0
SCGB1A1	7356	broad.mit.edu	37	11	62189870	62189870	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:62189870T>A	uc001ntj.3	+	1	294	c.233T>A	c.(232-234)aTt>aAt	p.I78N		NM_003357	NP_003348	P11684	UTER_HUMAN	Homo sapiens secretoglobin, family 1A, member 1 (uteroglobin) (SCGB1A1), mRNA.	78					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity			lung(1)	1						GAAAGCATCATTAAGCTCATG	0.527000														77			16		0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234534127	234534127	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:234534127C>T	uc001hwd.3	-	26	4243	c.4243_splice	c.e26+1	p.G1415_splice		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1415					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTATTTTTTACCTATGTCTTG	0.328000														53			7		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42857946	42857946	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:42857946C>T	uc002otl.4	+	20	4215	c.3580C>T	c.(3580-3582)Cgg>Tgg	p.R1194W	MEGF8_uc002otm.4_Missense_Mutation_p.R802W	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1261	Laminin EGF-like 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TTCCTGCTTTCGGGAGTGTGG	0.682000														28			6		0	0	1	0	0
PHF7	51533	broad.mit.edu	37	3	52456878	52456878	+	Silent	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:52456878T>C	uc003ddy.3	+	9	1706	c.900T>C	c.(898-900)tgT>tgC	p.C300C	PHF7_uc003ddz.3_Silent_p.C261C	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.	300						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GTGAGGAGTGTTCACCTGCTG	0.577000														153			21		0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24463788	24463788	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:24463788C>T	uc001biq.2	-	2	391	c.188G>A	c.(187-189)aGg>aAg	p.R63K	IL22RA1_uc010oeg.1_5'UTR|IL22RA1_uc009vrb.2_5'UTR|IL22RA1_uc010oeh.2_Missense_Mutation_p.R63K	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	63	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CACCCAGTCCCTCTCTCCGTA	0.577000														111			12		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43224018	43224018	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:43224018A>T	uc002lbe.3	+	9	2060	c.1244A>T	c.(1243-1245)aAc>aTc	p.N415I	SLC14A2_uc002lbb.3_Missense_Mutation_p.N415I|SLC14A2_uc010dnj.3_Missense_Mutation_p.N415I	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	415						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						CTGACGACAAACAACCCAGCC	0.552000														135			43		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726256	12726256	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:12726256C>T	uc001auf.3	+	3	734	c.734C>T	c.(733-735)tCc>tTc	p.S245F		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	245						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCATTACTTTCCCGGAAGTTC	0.517000														222			26		0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151340703	151340704	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:151340703_151340704GG>AA	uc010pcy.2	-	4	708_709	c.578_579CC>TT	c.(577-579)tcc>tTT	p.S193F	SELENBP1_uc001exx.3_Missense_Mutation_p.S151F|SELENBP1_uc010pcz.2_Missense_Mutation_p.S89F|SELENBP1_uc001eya.3_Missense_Mutation_p.S87F	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	151					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGTCTCCCAGGGAGCTGATCAT	0.554000														214			57		0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18235113	18235113	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:18235113C>T	uc002nhz.4	+	8	795	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	265							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.I287I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCAGCTTCATCGTCCAGCTTG	0.617000														25			4		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202905	56202905	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:56202905G>A	uc002lhj.4	-	4	4728	c.4514C>T	c.(4513-4515)cCa>cTa	p.P1505L	ALPK2_uc002lhk.1_Missense_Mutation_p.P836L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1505							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACATCCACTTGGAATTCTTTC	0.483000														54			17		0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267863	103267863	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:103267863G>A	uc004elr.3	-	0	394	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	124					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						GAGCGGGCCAGGCGACCAGCC	0.652000														30			10		0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154197657	154197657	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:154197657C>T	uc001fep.4	+	1	225	c.58C>T	c.(58-60)Caa>Taa	p.Q20*	UBAP2L_uc009wot.3_Nonsense_Mutation_p.Q20*|UBAP2L_uc010pek.2_Nonsense_Mutation_p.Q19*|UBAP2L_uc010pel.2_Nonsense_Mutation_p.Q19*|UBAP2L_uc021pad.1_Nonsense_Mutation_p.Q19*|UBAP2L_uc010pem.1_Nonsense_Mutation_p.Q19*	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	20					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCTCAAAACCAAAACCAGAC	0.453000														74			14		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142488820	142488820	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:142488820G>A	uc003ywi.2	-	9	1222	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	381							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCGTATGCCAGGAGGATGGTG	0.637000														17			8		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43679591	43679591	+	Missense_Mutation	SNP	G	A	A	rs144866823		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:43679591G>A	uc002ovu.3	-	3	871	c.740C>T	c.(739-741)tCa>tTa	p.S247L	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.S247L	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	247	Ig-like C2-type 2.				female pregnancy	extracellular region		p.S247L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATAGGTGAATGAAGGGTAAAT	0.483000														257			34		0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140378	178140378	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:178140378G>C	uc003mjj.3	-	4	699	c.501C>G	c.(499-501)aaC>aaG	p.N167K		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	167					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TTGGGCTGAAGTTTTGGCTCA	0.378000														203			12		0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5147811	5147811	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:5147811G>A	uc001ihr.3	+	7	1054	c.871G>A	c.(871-873)Gag>Aag	p.E291K	AKR1C3_uc021pml.1_Missense_Mutation_p.E291K|AKR1C3_uc010qap.2_Missense_Mutation_p.E268K|AKR1C3_uc001ihu.3_Missense_Mutation_p.E291K	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	291					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	GTTGACTGCAGAGGACATGAA	0.353000														28			6		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940896	22940896	+	Silent	SNP	G	A	A	rs79080989		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:22940896G>A	uc021urt.1	-	3	1970	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											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)				TAAGGGCTGAGAAGTGGTTAA	0.378000														49			7		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149515120	149515120	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:149515120G>A	uc010lpk.3	+	79	11501	c.11501G>A	c.(11500-11502)cGc>cAc	p.R3834H		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3837	TSP type-1 16.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCCGCAGCCGCCAGTGTGTG	0.697000														30			4		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080023	54080023	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:54080023G>A	uc002qbx.1	+	6	1643	c.209G>A	c.(208-210)aGg>aAg	p.R70K	ZNF331_uc002qby.1_Missense_Mutation_p.R70K|ZNF331_uc002qbz.1_Missense_Mutation_p.R70K|ZNF331_uc010eqr.1_Missense_Mutation_p.R70K|ZNF331_uc002qca.1_Missense_Mutation_p.R70K|ZNF331_uc021uzg.1_Missense_Mutation_p.R70K|ZNF331_uc021uzh.1_Missense_Mutation_p.R70K|ZNF331_uc002qcb.1_Missense_Mutation_p.R70K|ZNF331_uc002qcc.1_Missense_Mutation_p.R70K|ZNF331_uc002qcd.1_Missense_Mutation_p.R70K	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GCTTCCAAAAGGAATTCAGAT	0.388000			T	?	follicular thyroid adenoma									33			12		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65944316	65944316	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:65944316A>G	uc002jgf.3	+	22	7881	c.7820A>G	c.(7819-7821)aAt>aGt	p.N2607S	BPTF_uc002jge.3_Missense_Mutation_p.N2590S|BPTF_uc021uca.1_Missense_Mutation_p.N407S|BPTF_uc002jgg.3_Missense_Mutation_p.N264S|BPTF_uc002jgh.3_Missense_Mutation_p.N66S	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2733					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGCAAGCAGAATGCCACTAAG	0.443000														63			5		0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	879126	879126	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:879126G>A	uc001abw.1	+	12	1818	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K	SAMD11_uc001abx.1_Missense_Mutation_p.E443K	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA.	580	SAM.					nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACTGCTGACGGAGGAGCACCT	0.672000														37			9		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15702028	15702028	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:15702028G>A	uc001rcv.2	+	14	2775	c.2305_splice	c.e14-1	p.E769_splice	PTPRO_uc001rcw.2_Splice_Site_p.E769_splice|PTPRO_uc001rcx.2_Splice_Site|PTPRO_uc001rcy.2_Splice_Site|PTPRO_uc001rcz.2_Splice_Site|PTPRO_uc001rda.2_Splice_Site	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	769	Fibronectin type-III 8.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GAAACCCCAGGAACCAGTTGC	0.388000														194			38		0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29634018	29634018	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:29634018C>T	uc003nnf.3	+	2	755	c.526C>T	c.(526-528)Ctc>Ttc	p.L176F	MOG_uc003nmy.2_Missense_Mutation_p.L176F|MOG_uc003nna.3_Missense_Mutation_p.L60F|MOG_uc011dlt.2_Missense_Mutation_p.L106F|MOG_uc011dlv.2_Missense_Mutation_p.L60F|MOG_uc011dlu.2_Missense_Mutation_p.L60F|MOG_uc003nne.3_Missense_Mutation_p.L176F|MOG_uc003nng.3_Missense_Mutation_p.L176F|MOG_uc003nni.3_Missense_Mutation_p.L176F|MOG_uc003nnh.3_Missense_Mutation_p.L176F|MOG_uc003nnj.3_Missense_Mutation_p.L176F|MOG_uc003nnk.3_Missense_Mutation_p.L176F	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	176					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCTCATCTTCCTCTGCCTGCA	0.542000														216			45		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28499564	28499564	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:28499564T>C	uc001zbj.3	-	19	3078	c.2972A>G	c.(2971-2973)gAc>gGc	p.D991G	HERC2_uc001zbl.1_Missense_Mutation_p.D686G	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	991					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATTAATAAGGTCTTTATCCAG	0.408000														40			3		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40362910	40362910	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:40362910G>C	uc002omp.4	-	31	15168	c.15160C>G	c.(15160-15162)Cgg>Ggg	p.R5054G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5054	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGGGGTTCCGGAGCTGCCCG	0.657000														103			15		0	0	1	0	0
PDCD2	5134	broad.mit.edu	37	6	170892764	170892764	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:170892764C>T	uc003qxw.3	-	1	466	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	PDCD2_uc003qxv.3_Missense_Mutation_p.E86K|PDCD2_uc003qxx.2_Missense_Mutation_p.E119K|PDCD2_uc003qya.3_Missense_Mutation_p.E86K|PDCD2_uc003qxy.3_Missense_Mutation_p.E86K|PDCD2_uc021ziq.1_Missense_Mutation_p.E119K|PDCD2_uc003qxz.3_Missense_Mutation_p.E119K|PDCD2_uc003qyb.2_Intron	NM_002598	NP_002589	Q16342	PDCD2_HUMAN	Homo sapiens programmed cell death 2 (PDCD2), transcript variant 1, mRNA.	119					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		TCTCCTGTTTCTGGGGGAGGA	0.433000														49			5		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38921764	38921764	+	Silent	SNP	C	T	T	rs61747090		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:38921764C>T	uc003jln.2	+	11	2035	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	545	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGGATTCTCTCTGTCTTGGAA	0.428000														115			38		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18737028	18737028	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:18737028C>T	uc009yht.2	-	10	1672	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	494	Ig-like 3.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GGTCTCCATCCTGCATGGCCA	0.547000														177			10		0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155240702	155240702	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:155240702G>A	uc001fjy.3	-	1	357	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	CLK2_uc001fjw.3_Missense_Mutation_p.R23W|CLK2_uc001fjx.3_5'UTR|CLK2_uc009wqm.3_Missense_Mutation_p.R23W	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	23						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R23R(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTTCGGCTCCGATAGTGTTCA	0.572000								Other conserved DNA damage response genes						100			22		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34092474	34092474	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:34092474C>T	uc021wco.1	+	29	6924	c.6277C>T	c.(6277-6279)Cat>Tat	p.H2093Y	CEP250_uc010zve.2_Missense_Mutation_p.H1461Y	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	2093	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGGGGCCTTCATCAGAGTGT	0.527000														79			19		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531961	92531961	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:92531961G>A	uc001pdj.4	+	8	5799	c.5782G>A	c.(5782-5784)Gat>Aat	p.D1928N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1928	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGCAGTTTGGATCATTTTTT	0.423000										TCGA Ovarian(4;0.039)				22			4		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212812196	212812196	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:212812196C>T	uc002veg.1	-	2	478	c.380G>A	c.(379-381)gGa>gAa	p.G127E	ERBB4_uc002veh.1_Missense_Mutation_p.G127E|ERBB4_uc010zji.1_Missense_Mutation_p.G127E|ERBB4_uc010zjj.1_Missense_Mutation_p.G127E|ERBB4_uc010fut.1_Missense_Mutation_p.G127E	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	127					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)		TCCAAAGTTTCCATCTTTTCT	0.338000										TSP Lung(8;0.080)				36			4		0	0	1	0	0
STMN4	81551	broad.mit.edu	37	8	27098701	27098701	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:27098701G>A	uc011lak.2	-	4	383	c.269C>T	c.(268-270)tCc>tTc	p.S90F	STMN4_uc003xfj.3_Missense_Mutation_p.S90F|STMN4_uc011lai.2_Missense_Mutation_p.S90F|STMN4_uc011laj.2_Missense_Mutation_p.S54F|STMN4_uc003xfk.3_Missense_Mutation_p.S63F|STMN4_uc010luo.3_Missense_Mutation_p.S63F	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	Homo sapiens stathmin-like 4 (STMN4), mRNA.	63					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		GACTTCAAAGGATTGGCCCGA	0.567000														117			29		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241350	3241350	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:3241350C>T	uc004crg.4	-	4	2533	c.2376G>A	c.(2374-2376)ggG>ggA	p.G792G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	792						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)				GGAGATTTTTCCCACGGACTT	0.453000														56			27		0	0	1	0	0
GULP1	51454	broad.mit.edu	37	2	189449114	189449114	+	Silent	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:189449114T>C	uc010fru.3	+	9	1401	c.732T>C	c.(730-732)agT>agC	p.S244S	GULP1_uc002uqd.3_Silent_p.S244S|GULP1_uc010zfw.2_Silent_p.S141S|GULP1_uc002uqg.3_Silent_p.S244S|GULP1_uc002uqf.3_Silent_p.S244S|GULP1_uc002uqh.1_Silent_p.S64S	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	Homo sapiens GULP, engulfment adaptor PTB domain containing 1 (GULP1), transcript variant 1, mRNA.	244					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			CAGTACCTAGTAGATCTACTG	0.373000														76			10		0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26505250	26505250	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:26505250C>T	uc003xfb.2	+	10	1646	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	DPYSL2_uc003xfa.3_Silent_p.S510S|DPYSL2_uc011lah.2_Silent_p.S369S	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	405					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CTGTGGGATCCGATGCCGACC	0.537000														107			20		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187663	57187663	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:57187663G>A	uc010kzo.3	-	4	1730	c.1459C>T	c.(1459-1461)Cat>Tat	p.H487Y		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCAGTATGAATTCTCTTA	0.398000														70			11		0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385729	21385729	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:21385729C>T	uc002zud.3	-	1	441	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	SLC7A4_uc002zue.3_Missense_Mutation_p.E125K	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	125					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ATGATGTATTCGAGGAGAACA	0.607000														41			13		0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327463	28327463	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:28327463T>G	uc010jrc.3	+	2	433	c.100T>G	c.(100-102)Ttt>Gtt	p.F34V	ZKSCAN3_uc003nle.4_Missense_Mutation_p.F34V|ZKSCAN3_uc003nlf.4_Intron	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	34			F -> L (in dbSNP:rs3857555).		positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGAAGCCGGTTTTCCCAGTAG	0.597000														111			16		0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47814372	47814372	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:47814372G>A	uc003crq.2	-	1	368	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F	SMARCC1_uc011bbd.1_5'UTR	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	84					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		AACTGAAGAAGCTGCACCACC	0.463000														74			12		0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43656348	43656349	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:43656348_43656349GG>AA	uc001zrk.1	-	3	1601_1602	c.1454_1455CC>TT	c.(1453-1455)ccc>cTT	p.P485L	ZSCAN29_uc001zrj.1_Missense_Mutation_p.P365L|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc010bdf.1_Missense_Mutation_p.P484L|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_3'UTR	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	485					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTTCAAAGAAGGGACAGGTCTC	0.535000														112			13		0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127464369	127464369	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:127464369G>A	uc001liu.3	-	0	22	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	8					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGTGTCGGACGGAAGATGGAG	0.667000														71			21		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164228	26164228	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:26164228C>T	uc003abz.1	+	3	595	c.345C>T	c.(343-345)ccC>ccT	p.P115P	MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	115						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin 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						CCCGCAGCCCCGACCCTGAGC	0.597000														32			5		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27556771	27556771	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:27556771G>A	uc002dov.2	-	1	335	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	GTF3C1_uc002dou.3_Missense_Mutation_p.P99S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	99						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ATATGAATGGGGTAGACATCC	0.418000														72			10		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53908365	53908365	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:53908365G>A	uc002acj.2	-	14	2080	c.2038C>T	c.(2038-2040)Cat>Tat	p.H680Y	WDR72_uc010bfi.1_Missense_Mutation_p.H680Y	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	680										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGAAGAATATGAAAGCCAACG	0.388000														55			7		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71790711	71790711	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:71790711C>T	uc002llf.2	-	7	1110	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	FBXO15_uc002lle.2_Missense_Mutation_p.D268N	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	268										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GGGCTATCATCCAAAAAGGGG	0.443000														39			18		0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910596	35910596	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:35910596C>T	uc003jjt.1	-	2	282	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	CAPSL_uc003jju.1_Missense_Mutation_p.E63K	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	63	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TTCATAAATTCTTTAAAATCA	0.323000														35			12		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562770	11562770	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:11562770T>C	uc001ash.4	+	2	1270	c.1132T>C	c.(1132-1134)Tac>Cac	p.Y378H	PTCHD2_uc001asi.1_Missense_Mutation_p.Y378H	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	378					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCTGAGTTCTACTGGTATGT	0.592000														42			3		0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77936242	77936242	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:77936242G>A	uc001ozh.3	-	4	1316	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	GAB2_uc001ozg.3_Missense_Mutation_p.S367F	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	405					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGTCTCACAGGAAGAAGCTGA	0.507000														73			10		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30724110	30724110	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:30724110C>A	uc002dze.1	+	13	2489	c.2104C>A	c.(2104-2106)Cag>Aag	p.Q702K	SRCAP_uc021tgn.1_Missense_Mutation_p.Q702K|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.Q559K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	702	Helicase ATP-binding.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTATGGAGCCCAGAAAGAGAG	0.468000														94			7		0.00448238	0.00450498	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79441589	79441589	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:79441589C>T	uc010mpk.3	-	4	692	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	PRUNE2_uc022bih.1_Missense_Mutation_p.E12K|PRUNE2_uc004akn.3_Missense_Mutation_p.E190K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	190					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAAAGAATTTCCTCCTGCTTC	0.433000														65			14		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156390187	156390187	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:156390187A>T	uc003lwh.2	-	0	80	c.23T>A	c.(22-24)cTc>cAc	p.L8H	TIMD4_uc010jii.2_Missense_Mutation_p.L8H	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	8						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCAGCCAGAGAATGAGAGG	0.443000														96			17		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50768975	50768975	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:50768975G>A	uc002xwl.3	-	5	2105	c.1756C>T	c.(1756-1758)Ctc>Ttc	p.L586F	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.L584F|ZFP64_uc002xwn.3_Missense_Mutation_p.L532F	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGGGGATGAGAGTCTGGTGC	0.607000														96			17		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38892012	38892012	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:38892012C>T	uc021wvy.1	-	24	4486	c.4287G>A	c.(4285-4287)tgG>tgA	p.W1429*	SCN11A_uc003cis.1_Nonsense_Mutation_p.W94*	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1429					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.W1429*(1)		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)	CAAATAAATTCCAGCCATTGG	0.383000														134			24		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123333000	123333000	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:123333000C>T	uc003ego.3	-	33	5979	c.5697G>A	c.(5695-5697)gtG>gtA	p.V1899V	MYLK-AS1_uc003egk.3_Intron|MYLK_uc003egl.3_Silent_p.V139V|MYLK_uc003egm.3_Silent_p.V138V|MYLK_uc010hrr.3_Silent_p.V334V|MYLK_uc011bjv.2_Silent_p.V699V|MYLK_uc011bjw.2_Silent_p.V1898V|MYLK_uc003egp.3_Silent_p.V1830V|MYLK_uc003egq.3_Silent_p.V1848V|MYLK_uc003egr.3_Silent_p.V1779V|MYLK_uc003egs.3_Silent_p.V1723V	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1899					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCATCGTTTCCACAATGAGCT	0.453000														206			42		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76435269	76435269	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:76435269C>T	uc010dhp.2	-	72	11833	c.11708G>A	c.(11707-11709)gGa>gAa	p.G3903E	DNAH17_uc002jvq.3_Missense_Mutation_p.G188E|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATGGAGTTTTCCATTGTCTAT	0.458000														25			10		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066240	73066240	+	RNA	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:73066240G>A	uc004ebm.1	-	0		c.6349C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GAGGTATGTGGAGAGGACCCT	0.468000														20			12		0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42162712	42162712	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:42162712C>T	uc002xkn.1	+	6	716	c.585C>T	c.(583-585)gtC>gtT	p.V195V	L3MBTL1_uc010zwh.2_Silent_p.V504V|L3MBTL1_uc002xkm.3_Silent_p.V436V|L3MBTL1_uc010ggl.3_Silent_p.V436V|L3MBTL1_uc002xkl.3_Silent_p.V436V|L3MBTL1_uc002xko.3_Silent_p.V88V	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	436					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCTCTGCTGTCCCCACCTGGG	0.572000														94			28		0	0	1	0	0
DDAH1	23576	broad.mit.edu	37	1	85790432	85790432	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:85790432T>A	uc001dlb.3	-	4	893	c.732A>T	c.(730-732)gaA>gaT	p.E244D	DDAH1_uc001dlc.3_Missense_Mutation_p.E141D|LOC646626_uc001dla.2_Intron|DDAH1_uc010osb.2_Missense_Mutation_p.E144D|DDAH1_uc009wco.3_Missense_Mutation_p.E141D	NM_012137	NP_001127917	O94760	DDAH1_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 1 (DDAH1), transcript variant 1, mRNA.	244					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	CCTTTGCACTTTCTGGATACT	0.468000														121			14		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55587212	55587212	+	Silent	SNP	C	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:55587212C>G	uc010qhy.1	-	32	4718	c.4323G>C	c.(4321-4323)ccG>ccC	p.P1441P	PCDH15_uc010qhq.2_Silent_p.P1441P|PCDH15_uc010qhr.2_Silent_p.P1436P|PCDH15_uc021pqv.1_Silent_p.P1436P|PCDH15_uc021pqw.1_Silent_p.P1448P|PCDH15_uc010qht.2_Silent_p.P1443P|PCDH15_uc021pqx.1_Silent_p.P1436P|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.P1436P|PCDH15_uc021pqz.1_Silent_p.P1411P|PCDH15_uc010qhv.1_Silent_p.P1433P|PCDH15_uc010qhw.1_Silent_p.P1396P|PCDH15_uc010qhx.1_Silent_p.P1365P|PCDH15_uc010qhz.1_Silent_p.P1436P|PCDH15_uc010qia.1_Silent_p.P1414P|PCDH15_uc001jju.1_Silent_p.P1436P|PCDH15_uc010qib.1_Silent_p.P1411P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1436	Poly-Pro.				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)				gcggcggcggcgggggcgCTG	0.582000										HNSCC(58;0.16)				65			3		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44833296	44833296	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:44833296G>A	uc010xwy.2	-	4	1201	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S	ZFP112_uc010ejj.3_Silent_p.S344S|ZFP112_uc002ozc.4_Silent_p.S338S|ZFP112_uc010xwz.2_Silent_p.S343S	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						TGTTAAGAGGGGAACAGTGAT	0.378000														75			7		0	0	1	0	0
C8orf4	56892	broad.mit.edu	37	8	40011065	40011065	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:40011065G>A	uc003xnq.2	+	0	79	c.14G>A	c.(13-15)cGa>cAa	p.R5Q		NM_020130	NP_064515	Q9NR00	CH004_HUMAN	Homo sapiens chromosome 8 open reading frame 4 (C8orf4), mRNA.	5					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		AAAGCAAAGCGAAGCCACCAA	0.517000														59			19		0	0	1	0	0
ZNF10	7556	broad.mit.edu	37	12	133728428	133728428	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:133728428G>A	uc009zzb.3	+	3	641	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	ZNF268_uc010tbv.1_5'UTR|ZNF10_uc001ulq.3_Missense_Mutation_p.R65Q	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTGATCCTCCGGTTGGAGAAG	0.517000														62			5		0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86839324	86839324	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:86839324A>G	uc002srn.3	-	2	1431	c.440T>C	c.(439-441)tTt>tCt	p.F147S	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.F8S|RNF103_uc021vkg.1_Missense_Mutation_p.F143S|BC066991_uc002sro.3_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	147					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ACGTATTCCAAATCTTGACAC	0.373000														99			6		0	0	1	0	0
MSL2	55167	broad.mit.edu	37	3	135870900	135870900	+	Missense_Mutation	SNP	G	A	A	rs147779185		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:135870900G>A	uc003eqx.1	-	1	1556	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	MSL2_uc011bmb.1_Missense_Mutation_p.R201C|MSL2_uc021xel.1_Missense_Mutation_p.R201C	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN	Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.	275					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TCTAAGCTGCGGAGTACTTCC	0.438000														77			9		0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913710	77913710	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:77913710G>A	uc022bzi.1	-	0	208	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	ZCCHC5_uc004edc.1_Missense_Mutation_p.P70S	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	70	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCTGCTGGGGGATTCATGTGC	0.587000														6			4		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22216496	22216496	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:22216496G>A	uc009vqd.3	-	5	592	c.552C>T	c.(550-552)ttC>ttT	p.F184F	HSPG2_uc001bfj.3_Silent_p.F184F|HSPG2_uc009vqe.1_Missense_Mutation_p.S83F	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	184	SEA.				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)	GTCGGAACTGGAATCCCTGGG	0.622000														72			18		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143096875	143096875	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:143096875G>A	uc003wcz.3	-	3	791	c.704C>T	c.(703-705)gCg>gTg	p.A235V		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	235	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCTGGCCCGCGCGTGGGGCAA	0.677000														18			5		0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50667452	50667452	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:50667452C>T	uc002egg.2	+	9	1397	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	391					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CGGCCCTCCTCCCCTCCCTAG	0.721000														18			3		0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086473	144086473	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:144086473G>A	uc010khi.3	+	5	969	c.770G>A	c.(769-771)cGt>cAt	p.R257H	PHACTR2_uc003qjq.4_Missense_Mutation_p.R246H|PHACTR2_uc010khh.3_Missense_Mutation_p.R166H|PHACTR2_uc003qjr.4_Missense_Mutation_p.R177H	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	246							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		ACCTCATCTCGTCCCAAAGCT	0.468000														116			12		0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49321500	49321500	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:49321500G>A	uc003cwq.2	-	18	2539	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	USP4_uc003cwp.2_Silent_p.I550I|USP4_uc003cwr.2_Silent_p.I773I	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	820					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GGACCACCAGGATCTTGGGCA	0.478000														100			21		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20696606	20696606	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:20696606C>T	uc002dhm.1	-	1	380	c.312G>A	c.(310-312)caG>caA	p.Q104Q	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.Q104Q	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	104					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGCCACAGGTCTGTGTGAAGA	0.557000														107			16		0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240036809	240036809	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:240036809G>A	uc002vyk.4	-	12	2508	c.1716C>T	c.(1714-1716)ccC>ccT	p.P572P	HDAC4_uc010fyz.1_Silent_p.P567P|HDAC4_uc010zoa.1_Silent_p.P572P|HDAC4_uc010fza.2_Silent_p.P577P|HDAC4_uc010fyy.3_Silent_p.P529P|HDAC4_uc010znz.1_Silent_p.P455P	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	572					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCTCCCGTGGGGGCTCTGCCT	0.697000														105			11		0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10753125	10753125	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:10753125T>C	uc002mpf.3	+	20	2151	c.2012T>C	c.(2011-2013)tTc>tCc	p.F671S	SLC44A2_uc002mpe.4_Missense_Mutation_p.F669S|SLC44A2_uc002mpg.1_Missense_Mutation_p.F391S|SLC44A2_uc002mph.3_Missense_Mutation_p.F220S|SLC44A2_uc002mpi.3_Missense_Mutation_p.F87S	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	671					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	p.F671F(1)		NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TTCCTCTGCTTCTGTGAGTGA	0.572000														54			6		0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339612	13339612	+	RNA	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:13339612G>A	uc003gms.3	+	0		c.4576G>A								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						AGCAAGTATGGAAGCGGGACT	0.483000														29			6		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170805155	170805155	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:170805155G>A	uc003fhh.2	-	23	3207	c.2862C>T	c.(2860-2862)tcC>tcT	p.S954S	TNIK_uc003fhi.2_Silent_p.S899S|TNIK_uc003fhj.2_Silent_p.S925S|TNIK_uc003fhk.2_Silent_p.S946S|TNIK_uc003fhl.2_Silent_p.S870S|TNIK_uc003fhm.2_Silent_p.S891S|TNIK_uc003fhn.2_Silent_p.S917S|TNIK_uc003fho.2_Silent_p.S862S|TNIK_uc003fhg.2_Silent_p.S132S	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	954	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCATCTCCTGGGAATGGGTTG	0.557000														154			24		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202288019	202288020	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:202288019_202288020CC>TT	uc001gxu.3	+	17	2588_2589	c.2588_2589CC>TT	c.(2587-2589)tcc>tTT	p.S863F	LGR6_uc001gxv.3_Missense_Mutation_p.S811F|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.S724F	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	863						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GAGAAGAGCTCCTGTGATTCTA	0.639000														70			14		0	0	1	0	0
NECAP1	25977	broad.mit.edu	37	12	8242619	8242619	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:8242619G>A	uc001qtx.2	+	1	261	c.183G>A	c.(181-183)gaG>gaA	p.E61E	NECAP1_uc001qty.2_5'UTR	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	Homo sapiens NECAP endocytosis associated 1 (NECAP1), transcript variant 1, mRNA.	61					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		p.L60L(1)		cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TCAAACTCGAGGATAAAGTTT	0.428000														102			14		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55614885	55614885	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:55614885C>T	uc010spf.2	+	0	77	c.77C>T	c.(76-78)tCc>tTc	p.S26F		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						ATGCAAGTTTCCCTCTTTATT	0.383000														166			27		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269283	63269283	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:63269283G>A	uc001xfx.3	-	8	1637	c.1586C>T	c.(1585-1587)cCc>cTc	p.P529L	KCNH5_uc001xfy.3_Missense_Mutation_p.P529L|KCNH5_uc001xfz.1_Missense_Mutation_p.P471L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	529					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CATGTCCTTGGGACAGATGGA	0.438000														23			6		0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079834	29079834	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:29079834C>T	uc011dll.2	+	0	167	c.167C>T	c.(166-168)tCc>tTc	p.S56F		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	56					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						TACCTGGACTCCCATCTGCAC	0.453000														248			50		0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5248028	5248028	+	Splice_Site	SNP	G	A	A	rs63749977		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:5248028G>A	uc001mae.1	-	2	143	c.93_splice	c.e2-1	p.R31_splice	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	31			R -> S (in Tacoma; unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	ACCACCAGCAGCCTAAGGGTG	0.512000									Sickle Cell Trait					38			5		0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22846947	22846948	+	Silent	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:22846947_22846948CC>TT	uc001yuq.2	+	7	952_953	c.822_823CC>TT	c.(820-825)acccta>acTTta	p.274_275TL>TL	TUBGCP5_uc001yur.4_Silent_p.274_275TL>TL|TUBGCP5_uc010axz.1_5'Flank	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	274					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TTCGGGAAACCCTATGGTAAGA	0.361000														66			11		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404664	20404664	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:20404664C>T	uc001vwj.2	+	0	898	c.839C>T	c.(838-840)cCc>cTc	p.P280L		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P280P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTTTGTACTCCCTTGTTGAAC	0.418000														256			20		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179631290	179631290	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:179631290G>A	uc010pnp.2	+	14	2892	c.2374G>A	c.(2374-2376)Gat>Aat	p.D792N	TDRD5_uc021pfm.1_Missense_Mutation_p.D738N|TDRD5_uc001gnf.2_Missense_Mutation_p.D738N|TDRD5_uc021pfn.1_Missense_Mutation_p.D792N|TDRD5_uc001gnh.2_Missense_Mutation_p.D293N	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	790					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CATAGGTGATGATATTTGGGA	0.423000														118			24		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374895	8374895	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:8374895C>T	uc001qui.2	-	6	1477	c.918G>A	c.(916-918)aaG>aaA	p.K306K	FAM90A1_uc001quh.2_Silent_p.K306K	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	306							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)		GTCTCGGTTTCTTGGGGAAGT	0.637000														76			7		0	0	1	0	0
MRPS27	23107	broad.mit.edu	37	5	71528350	71528350	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:71528350C>T	uc011cse.2	-	7	589	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	MRPS27_uc003kca.4_Missense_Mutation_p.E115K|MRPS27_uc003kbz.4_Missense_Mutation_p.E171K|MRPS27_uc010iza.3_Missense_Mutation_p.E115K|MRPS27_uc010iyz.1_Non-coding_Transcript	NM_015084	NP_055899	Q92552	RT27_HUMAN	Homo sapiens mitochondrial ribosomal protein S27 (MRPS27), nuclear gene encoding mitochondrial protein, mRNA.	171						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TCAAAGGCTTCTTGCATCATG	0.373000														62			6		0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52312836	52312836	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:52312836G>A	uc001rzj.3	+	8	1597	c.1314G>A	c.(1312-1314)atG>atA	p.M438I	ACVRL1_uc001rzk.3_Missense_Mutation_p.M438I|ACVRL1_uc010snm.2_Missense_Mutation_p.M264I	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	438	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TTGAGGACATGAAGAAGGTGG	0.572000														98			11		0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29640457	29640457	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:29640457C>T	uc011dlw.2	-	3	1582	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	393					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.W477*(1)		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						GGCCCAGGATCACCCGGCATT	0.562000														73			20		0	0	1	0	0
WSB2	55884	broad.mit.edu	37	12	118481179	118481179	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:118481179G>C	uc001twr.2	-	2	284	c.186C>G	c.(184-186)atC>atG	p.I62M	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Missense_Mutation_p.I62M	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	Homo sapiens WD repeat and SOCS box containing 2 (WSB2), mRNA.	62					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCCTTTAGGGATGCTGGGAG	0.478000														89			11		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114372637	114372637	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:114372637G>A	uc001eds.3	-	16	2198	c.2068C>T	c.(2068-2070)Cgt>Tgt	p.R690C	PTPN22_uc021orx.1_Missense_Mutation_p.R662C|PTPN22_uc009wgq.3_Missense_Mutation_p.R635C|PTPN22_uc021ory.1_Missense_Mutation_p.R666C|PTPN22_uc010owo.2_Missense_Mutation_p.R446C|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.R690C|PTPN22_uc009wgs.2_Missense_Mutation_p.R563C	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	690					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity	p.R690H(1)		NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGAAGAACGATCTTGATGT	0.358000														60			5		0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8785182	8785182	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:8785182C>T	uc002glt.3	-	15	2289	c.2222G>A	c.(2221-2223)cGa>cAa	p.R741Q	PIK3R5_uc010vuz.2_Missense_Mutation_p.R741Q|PIK3R5_uc021tqc.1_Missense_Mutation_p.R355Q|PIK3R5_uc010cob.2_Missense_Mutation_p.R355Q|PIK3R5_uc010coa.2_Missense_Mutation_p.R355Q|PIK3R5_uc002glu.4_Missense_Mutation_p.R355Q	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	741	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCAGCGACTTCGTCCACTGAT	0.612000														35			9		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104081839	104081839	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:104081839G>A	uc003hxb.1	-	20	2319	c.2229C>T	c.(2227-2229)gtC>gtT	p.V743V	CENPE_uc003hxc.1_Silent_p.V718V	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	743					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AAAGCAAAATGACTTCTTCCC	0.318000														52			11		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502572	90502572	+	Missense_Mutation	SNP	C	T	T	rs145805743		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:90502572C>T	uc004app.4	+	3	3205	c.3170C>T	c.(3169-3171)tCg>tTg	p.S1057L		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1057						integral to membrane											AGGGCAAGTTCGGGAAGTGTT	0.597000														86			24		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222291222	222291222	+	Silent	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:222291222A>G	uc002vmq.3	-	15	2850	c.2808T>C	c.(2806-2808)ggT>ggC	p.G936G	EPHA4_uc002vmr.2_Silent_p.G936G|EPHA4_uc010zlm.1_Silent_p.G877G	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	936	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTGTGGTATAACCAGCAGCTG	0.438000														59			14		0	0	1	0	0
CLCA3P	9629	broad.mit.edu	37	1	87104713	87104713	+	RNA	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:87104713G>A	uc010osh.2	+	4		c.748G>A								Homo sapiens chloride channel accessory 3, pseudogene (CLCA3P), non-coding RNA.											endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						GCAAAATCTTGATTCTGTAAG	0.383000														61			9		0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165846588	165846588	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:165846588C>T	uc003qun.3	-	7	782	c.537G>A	c.(535-537)ctG>ctA	p.L179L	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Silent_p.L109L|PDE10A_uc003quo.3_Silent_p.L189L	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	179	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TCCCTGATTCCAGTCCAGTAC	0.393000														42			8		0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78430375	78430375	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:78430375G>A	uc001dii.3	-	9	882	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Missense_Mutation_p.R286W	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	265					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TACTCATTCCGAACTTCTCTG	0.348000			"""F, N"""		oligodendroglioma									208			17		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41019029	41019029	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:41019029G>A	uc003jmj.4	-	24	3023	c.2533C>T	c.(2533-2535)Ctg>Ttg	p.L845L	HEATR7B2_uc003jmi.4_Silent_p.L400L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	845							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCACTTTTCAGATTTTCCAGA	0.473000														42			3		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193408	28193408	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:28193408C>T	uc003adj.3	-	0	4079	c.3124G>A	c.(3124-3126)Ggt>Agt	p.G1042S		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1042							binding	p.V1041M(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGAACTCACCCACGTTTGGC	0.627000			T	ETV6	"""AML, meningioma"""									149			5		0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14610325	14610325	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:14610325G>A	uc003jfj.3	+	7	1086	c.973G>A	c.(973-975)Gac>Aac	p.D325N		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	325										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TAACTCCAGAGACTTTGAAGT	0.458000														76			11		0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72859026	72859026	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:72859026G>A	uc010wrl.2	-	11	1605	c.1518C>T	c.(1516-1518)gcC>gcT	p.A506A	GRIN2C_uc002jlu.1_5'Flank|GRIN2C_uc002jlv.1_5'Flank|FDXR_uc010wri.2_Silent_p.A411A|FDXR_uc010wrj.2_Silent_p.A461A|FDXR_uc002jlw.3_Silent_p.A220A|FDXR_uc002jlx.3_Silent_p.A469A|FDXR_uc002jly.3_Silent_p.A463A|FDXR_uc010wrk.2_Silent_p.A494A|FDXR_uc010wrm.2_Silent_p.A423A|FDXR_uc002jlz.3_Silent_p.A455A|FDXR_uc002jmb.3_Non-coding_Transcript	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	463					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCACCTCCTCGGCATCCAGCT	0.657000														93			29		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140227224	140227224	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:140227224G>A	uc010lnk.3	-	14	2919	c.2399C>T	c.(2398-2400)cCg>cTg	p.P800L	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.P800L|DENND2A_uc003vvw.3_Missense_Mutation_p.P800L	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	800	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGGCAGCACCGGGATGTAGGT	0.662000														13			3		0	0	1	0	0
MSTO2P	100129405	broad.mit.edu	37	1	155717585	155717585	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:155717585C>T	uc010pgo.1	+	6	803	c.792C>T	c.(790-792)ggC>ggT	p.G264G	GON4L_uc021paz.1_Intron|MSTO2P_uc010pgn.1_Silent_p.G237G|MSTO2P_uc010pgp.2_Non-coding_Transcript					Homo sapiens misato homolog 2 pseudogene (MSTO2P), non-coding RNA.																		TGCACGATGGCTTCTCTGGGG	0.562000														47			6		0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97370254	97370254	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:97370254C>T	uc010fia.3	+	51	6107	c.6107C>T	c.(6106-6108)cCc>cTc	p.P2036L	FER1L5_uc002sws.4_Missense_Mutation_p.P745L|FER1L5_uc010yus.2_Missense_Mutation_p.P744L	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	2036						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CTGTATCCTCCCATTAAAATA	0.458000														159			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179439664	179439664	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179439664C>T	uc021vsy.1	-	274	63716	c.63491G>A	c.(63490-63492)gGa>gAa	p.G21164E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G14859E|TTN_uc021vta.1_Missense_Mutation_p.G14792E|TTN_uc021vtb.1_Missense_Mutation_p.G14667E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22091	Fibronectin type-III 53.						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)			TTTGATTGGTCCAGTAGGTGG	0.443000														16			4		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086894	92086894	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:92086894C>T	uc001pdj.4	+	0	1633	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	539	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTGAATCCTCCCCAGAAATT	0.393000										TCGA Ovarian(4;0.039)				92			16		0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35705867	35705867	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:35705867C>T	uc003ola.3	+	1	335	c.308C>T	c.(307-309)tCt>tTt	p.S103F	FKBP5_uc010jvy.2_5'Flank|ARMC12_uc003olb.1_Missense_Mutation_p.S76F	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	76							binding										CTCCTCAACTCTTTGGAGTGC	0.592000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		158			19		0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142521062	142521062	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:142521062C>T	uc003evc.3	+	9	1769	c.1633C>T	c.(1633-1635)Ctt>Ttt	p.L545F	TRPC1_uc003evb.3_Missense_Mutation_p.L511F|TRPC1_uc011bni.1_Missense_Mutation_p.L64F	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	545					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.L511I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGGGATGTTTCTTCTTGTTTT	0.338000														55			9		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75036823	75036823	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:75036823G>A	uc001dgg.3	-	13	4790	c.4571C>T	c.(4570-4572)tCc>tTc	p.S1524F		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1524										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTTGTTGGGGGAAACATCTGC	0.512000														224			11		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111672892	111672892	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:111672892G>A	uc003puy.4	-	18	7628	c.7287C>T	c.(7285-7287)atC>atT	p.I2429I	REV3L_uc003pux.4_Silent_p.I2351I|REV3L_uc003puz.4_Silent_p.I2351I|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	2429					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCACCCGAGAGATCATCCGAC	0.388000								DNA polymerases (catalytic subunits)						45			15		0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56565110	56565110	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:56565110G>A	uc001skb.3	-	20	2305	c.2199C>T	c.(2197-2199)ttC>ttT	p.F733F	SMARCC2_uc001skd.3_Silent_p.F764F|SMARCC2_uc001ska.3_Silent_p.F764F|SMARCC2_uc001skc.3_Silent_p.F763F|SMARCC2_uc010sqf.2_Silent_p.F653F	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	733					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTTCCAGACCGAAGGCAGGGT	0.542000														50			17		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150437966	150437966	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:150437966G>A	uc022apw.1	+	5	747	c.607_splice	c.e5-1	p.E203_splice	GIMAP1-GIMAP5_uc003whr.2_Splice_Site	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		TTTTATTCCAGGAGAGAATGG	0.438000														78			16		0	0	1	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066996	46066996	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:46066996C>T	uc002zfr.4	+	0	666	c.621C>T	c.(619-621)gtC>gtT	p.V207V	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	201	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GTGTGCCTGTCTGCTCTAGGG	0.627000														338			31		0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95726821	95726821	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:95726821G>A	uc003uoc.4	+	16	2131	c.1854G>A	c.(1852-1854)tgG>tgA	p.W618*	DYNC1I1_uc003uod.4_Nonsense_Mutation_p.W601*|DYNC1I1_uc003uob.3_Nonsense_Mutation_p.W581*|DYNC1I1_uc003uoe.4_Nonsense_Mutation_p.W598*|DYNC1I1_uc010lfl.3_Nonsense_Mutation_p.W607*	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	618					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ATGATGAATGGACCCGATTTG	0.463000														98			16		0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79281235	79281235	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:79281235C>T	uc010nmg.1	+	4	726	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	TBX22_uc004edi.1_Missense_Mutation_p.R78C|TBX22_uc004edj.1_Missense_Mutation_p.R198C	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	198					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGCTTTGATCGCATGAAACT	0.527000														23			7		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561757	11561757	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:11561757C>T	uc001ash.4	+	1	846	c.708C>T	c.(706-708)atC>atT	p.I236I	PTCHD2_uc001asi.1_Silent_p.I236I	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	236					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCCCAGCATCCCGCCCCACG	0.682000														10			4		0	0	1	0	0
RABGGTB	5876	broad.mit.edu	37	1	76255701	76255701	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:76255701G>A	uc001dgy.1	+	3	445	c.374G>A	c.(373-375)gGt>gAt	p.G125D	RABGGTB_uc009wbt.1_Non-coding_Transcript	NM_004582	NP_004573	P53611	PGTB2_HUMAN	Homo sapiens Rab geranylgeranyltransferase, beta subunit (RABGGTB), mRNA.	125					protein modification process|visual perception		Rab geranylgeranyltransferase activity|metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TATGTTAAAGGTCTACAGAAA	0.323000														143			12		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60695878	60695878	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:60695878G>A	uc002sae.1	-	2	704	c.476C>T	c.(475-477)cCg>cTg	p.P159L	BCL11A_uc002sab.3_Missense_Mutation_p.P159L|BCL11A_uc002sac.3_Missense_Mutation_p.P159L|BCL11A_uc010ypi.2_Missense_Mutation_p.P7L|BCL11A_uc010ypj.2_Intron|BCL11A_uc002sad.1_Missense_Mutation_p.P7L|BCL11A_uc002saf.1_Intron	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	159	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AATACCCTGCGGGGCATATTC	0.458000			T	IGH@	B-CLL									56			6		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156906763	156906763	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:156906763G>A	uc001fqo.3	-	38	5395	c.4355C>T	c.(4354-4356)tCc>tTc	p.S1452F	ARHGEF11_uc010phu.2_Missense_Mutation_p.S868F|ARHGEF11_uc001fqn.3_Missense_Mutation_p.S1492F|MIR765_uc021pbj.1_5'Flank	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	1452					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.R1452H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCCCCAAGGGACTTGAGCAG	0.597000														231			38		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50959958	50959958	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:50959958G>A	uc009xog.3	-	4	779	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	OGDHL_uc001jie.3_Missense_Mutation_p.R222W|OGDHL_uc010qgt.2_Missense_Mutation_p.R165W|OGDHL_uc010qgu.2_Missense_Mutation_p.R13W|OGDHL_uc009xoh.2_Missense_Mutation_p.R13W	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	222					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.M249V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AACTTCTGCCGGATCCACTGG	0.592000														214			58		0	0	1	0	0
FAM41C	284593	broad.mit.edu	37	1	809624	809624	+	RNA	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:809624G>A	uc001abt.4	-	1		c.969C>T								Homo sapiens family with sequence similarity 41, member C (FAM41C), non-coding RNA.																		AATTCACCGAGGCCGAGAGCA	0.537000														133			12		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96963089	96963089	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:96963089C>T	uc010how.1	+	4	1607	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	EPHA6_uc003drp.1_Missense_Mutation_p.P522S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	427	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G522R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAGTTTTTCTCCCAAGCCATT	0.388000														118			20		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337405	19337405	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:19337405G>A	uc002nlz.3	+	6	1282	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	NCAN_uc010ecc.1_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	395					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GCCCACCCTGGAGGAGGAAGA	0.577000														34			5		0	0	1	0	0
F2RL2	2151	broad.mit.edu	37	5	75913830	75913830	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:75913830T>A	uc003kem.3	-	1	887	c.702A>T	c.(700-702)gaA>gaT	p.E234D	IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Missense_Mutation_p.E212D	NM_004101	NP_004092	O00254	PAR3_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA.	234					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		CAAGATAATATTCCTGCTTCA	0.468000														47			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179410188	179410188	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179410188C>T	uc021vsy.1	-	292	88170	c.87945G>A	c.(87943-87945)gtG>gtA	p.V29315V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V23010V|TTN_uc021vta.1_Silent_p.V22943V|TTN_uc021vtb.1_Silent_p.V22818V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30242	Ig-like 134.						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)			TCACTGCGGTCACCCGGAACT	0.498000														137			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222651	140222651	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140222651C>A	uc003lhs.2	+	0	1745	c.1745C>A	c.(1744-1746)cCg>cAg	p.P582Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.P582Q	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	595					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P582Q(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTGGTGCCGCGGTCTGTG	0.677000														75			12		3.27435e-08	3.31875e-08	1	1	0
MAGEA11	4110	broad.mit.edu	37	X	148798384	148798384	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:148798384C>T	uc004fdq.3	+	4	1393	c.1238C>T	c.(1237-1239)tCt>tTt	p.S413F	MAGEA11_uc004fdr.3_Missense_Mutation_p.S384F	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	413	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GATCCCACTTCTTACCCATCC	0.542000														62			40		0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43920370	43920370	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:43920370G>A	uc002owk.3	+	5	799	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	TEX101_uc010xwo.2_Missense_Mutation_p.E62K	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	62						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				ACTTTGCCAGGAAACCATACT	0.473000														48			16		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147349	129147349	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:129147349G>T	uc022cdu.1	+	2	645	c.601G>T	c.(601-603)Gcc>Tcc	p.A201S	BCORL1_uc010nrd.1_Missense_Mutation_p.A103S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	201	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCCTCTGCCAGCCCCTATCTG	0.587000														78			55		2.23399e-28	2.28364e-28	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151161580	151161580	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:151161580C>T	uc011bod.2	-	4	5155	c.5155G>A	c.(5155-5157)Gga>Aga	p.G1719R		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1719	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGTACTGTCCGCGGTCCTGA	0.507000											OREG0006779	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=IGSF10|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		84			9		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139362887	139362887	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:139362887G>A	uc004chx.3	-	4	4091	c.3782C>T	c.(3781-3783)tCc>tTc	p.S1261F	SEC16A_uc004chv.4_Missense_Mutation_p.S651F|SEC16A_uc004chw.3_Missense_Mutation_p.S1261F|SEC16A_uc010nbn.3_Missense_Mutation_p.S1261F	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1083					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane		p.S1261P(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTACTGGCTGGAGTAATAGCT	0.478000														75			19		0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50471847	50471847	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:50471847C>T	uc001rvv.3	+	4	1003	c.774C>T	c.(772-774)atC>atT	p.I258I	ASIC1_uc001rvw.3_Silent_p.I258I|ASIC1_uc009zln.3_Silent_p.I49I|ASIC1_uc009zlo.3_Silent_p.I258I|ASIC1_uc021qxr.1_Silent_p.I292I	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	258					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTCCTTTCATCGACCAGCTGG	0.612000														172			35		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53126799	53126799	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:53126799C>T	uc003xqz.2	-	1	175	c.19G>A	c.(19-21)Gat>Aat	p.D7N	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_5'UTR|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Missense_Mutation_p.D7N|ST18_uc003xrb.2_Missense_Mutation_p.D7N|ST18_uc010lyb.2_Non-coding_Transcript	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	7						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)				AGCGTTTTATCTTCAGCCTCT	0.428000														93			28		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27703012	27703012	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:27703012G>A	uc002rku.3	-	8	841	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	IFT172_uc002rkv.3_Missense_Mutation_p.R264W|IFT172_uc010yls.2_Missense_Mutation_p.R243W|IFT172_uc010ezc.3_Missense_Mutation_p.R264W	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	264					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTGAACACCCGAAGCCTGAAA	0.453000														46			4		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100410420	100410420	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:100410420G>A	uc003uwn.1	-	11	2558	c.2067C>T	c.(2065-2067)gtC>gtT	p.V689V	EPHB4_uc003uwm.1_Silent_p.V596V|EPHB4_uc010lhj.1_Silent_p.V689V	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	689	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.V689I(1)|p.P688P(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGAGAATCATGACGGGCATGC	0.622000														75			19		0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77528700	77528700	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:77528700C>T	uc001dhi.3	+	4	995	c.820C>T	c.(820-822)Cct>Tct	p.P274S	ST6GALNAC5_uc010ori.2_3'UTR|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript|ST6GALNAC5_uc001dhj.3_5'Flank	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	274					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TTATTATGAACCTTTTGGACC	0.398000														101			12		0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184931631	184931631	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:184931631C>T	uc003ivz.1	+	2	3075	c.1640C>T	c.(1639-1641)tCg>tTg	p.S547L	STOX2_uc003iwa.1_Missense_Mutation_p.S236L	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	547					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GCTCACATTTCGTCCACAAGC	0.532000														20			7		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20530690	20530690	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:20530690C>T	uc003gpr.1	+	15	1785	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	SLIT2_uc003gps.1_Silent_p.I519I	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	527	LRRNT 3.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCAACAAAATCCCGGAGCACA	0.443000														77			29		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325798	158325798	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:158325798C>T	uc001fse.3	+	3	1100	c.807C>T	c.(805-807)ctC>ctT	p.L269L	CD1E_uc010pid.2_Silent_p.L267L|CD1E_uc010pie.2_Silent_p.L170L|CD1E_uc001fsh.3_Silent_p.L80L|CD1E_uc001fry.3_Intron|CD1E_uc001fsf.3_Silent_p.L269L|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Silent_p.L170L|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Silent_p.L179L|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Intron|CD1E_uc001frz.3_Silent_p.L179L|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Silent_p.L80L|CD1E_uc021pbm.1_Intron|CD1E_uc009wsw.3_Silent_p.L27L	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	269	Ig-like.				antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CATGGTATCTCCGAGCAACCC	0.617000														178			38		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157494336	157494336	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:157494336G>A	uc009wsm.3	-	9	2130	c.1972C>T	c.(1972-1974)Cgt>Tgt	p.R658C	FCRL5_uc001fqu.3_Missense_Mutation_p.R658C|FCRL5_uc010phv.1_Missense_Mutation_p.R658C|FCRL5_uc010phw.1_Missense_Mutation_p.R573C	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	658						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGATGGGACGAGATACTGGA	0.502000														63			12		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76528909	76528909	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:76528909G>A	uc002fex.1	+	12	2331	c.2192G>A	c.(2191-2193)gGa>gAa	p.G731E	CNTNAP4_uc002feu.1_Missense_Mutation_p.G727E|CNTNAP4_uc002fev.1_Missense_Mutation_p.G592E|CNTNAP4_uc010chb.1_Missense_Mutation_p.G655E|CNTNAP4_uc002few.2_Missense_Mutation_p.G703E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	728	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGATTAGAGGGAAACTGCATT	0.403000														163			12		0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089292	43089292	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:43089292G>A	uc003bdb.3	-	2	927	c.666C>T	c.(664-666)gcC>gcT	p.A222A	A4GALT_uc021wqo.1_Silent_p.A222A|A4GALT_uc021wqp.1_Silent_p.A222A|A4GALT_uc010gzd.3_Silent_p.A222A|A4GALT_uc021wqq.1_Silent_p.A222A	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	222					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GGCGCTCGAAGGCCAGGAACG	0.632000														32			4		0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24109067	24109067	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:24109067G>A	uc001wkt.4	+	3	830	c.383G>A	c.(382-384)gGg>gAg	p.G128E	DHRS2_uc010aku.1_Missense_Mutation_p.G128E|DHRS2_uc001wku.4_Missense_Mutation_p.G128E|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	106					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CCTCTGGTAGGGAGCACTCTG	0.657000														48			11		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544610	82544610	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:82544610G>A	uc003uhx.2	-	6	12981	c.12692C>T	c.(12691-12693)tCc>tTc	p.S4231F	PCLO_uc003uhv.2_Missense_Mutation_p.S4231F|PCLO_uc010lec.3_Missense_Mutation_p.S1196F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4162	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4231F(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCCCTGGAGGAAATGCCACC	0.388000														39			10		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579624	140579624	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140579624G>A	uc003liy.3	+	0	277	c.277G>A	c.(277-279)Gag>Aag	p.E93K		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	93	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTAGACAGGGAGGAGCTCTG	0.493000														96			11		0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47569255	47569255	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:47569255C>T	uc003bib.3	+	12	1706	c.1540C>T	c.(1540-1542)Cac>Tac	p.H514Y	TBC1D22A_uc010haf.3_Missense_Mutation_p.H484Y|TBC1D22A_uc003bie.3_Missense_Mutation_p.H436Y|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.H467Y	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	514						intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGCCCCCAATCACTACAAGAA	0.652000														124			39		0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36508893	36508893	+	Splice_Site	SNP	C	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:36508893C>A	uc010eeq.2	-	9	1498	c.1184_splice	c.e9-1	p.G395_splice	BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Splice_Site_p.G395_splice	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	395					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTTCTTCTTGCCTAAGGGTAG	0.592000														41			3		1	1	1	1	0
CREBBP	1387	broad.mit.edu	37	16	3778737	3778737	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:3778737C>G	uc002cvv.3	-	30	6515	c.6311G>C	c.(6310-6312)cGc>cCc	p.R2104P	CREBBP_uc002cvw.3_Missense_Mutation_p.R2066P	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2104					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTTGGCTGTGCGCTGTTTGAT	0.622000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							411			47		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172001634	172001634	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:172001634C>T	uc001gie.3	+	4	858	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	DNM3_uc001gid.4_Missense_Mutation_p.R228C|DNM3_uc009wwb.2_Missense_Mutation_p.R228C|DNM3_uc001gif.3_Missense_Mutation_p.R228C	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	228					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTTGCCTCTTCGCAGGGGTAA	0.393000														120			25		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9353699	9353699	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:9353699G>A	uc021wam.1	+	8	707	c.692G>A	c.(691-693)gGa>gAa	p.G231E	PLCB4_uc010gbw.1_Missense_Mutation_p.G231E|PLCB4_uc010gbx.3_Missense_Mutation_p.G231E|PLCB4_uc021wal.1_Missense_Mutation_p.G231E|PLCB4_uc002wnh.3_Missense_Mutation_p.G78E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	231					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTCAGCAATGGAGACAAAACT	0.303000														12			4		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3683907	3683907	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:3683907A>T	uc002wja.3	-	4	1165	c.1165T>A	c.(1165-1167)Ttc>Atc	p.F389I	SIGLEC1_uc002wiz.4_Missense_Mutation_p.F389I|SIGLEC1_uc002wjc.3_Missense_Mutation_p.F300I	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	389	Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.F389L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCTCACAGAAGTAGAAGCCA	0.602000														63			17		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782167	54782167	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:54782167G>A	uc002qfb.3	-	6	1471	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.S402F|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.S402F|LILRB2_uc010yet.2_Missense_Mutation_p.S286F|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	402	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGGGTCGGAGTTGAGTGA	0.587000														135			24		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108812284	108812284	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:108812284C>T	uc003dxl.3	-	8	776	c.689_splice	c.e8+1	p.D230_splice	MORC1_uc011bhn.2_Splice_Site_p.D230_splice	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	230					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACACATACTCCTCCAGAGCT	0.438000														61			12		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003873	34003873	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:34003873G>A	uc002yqh.2	-	31	4271	c.4271C>T	c.(4270-4272)tCc>tTc	p.S1424F	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Missense_Mutation_p.S1338F|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.4_Missense_Mutation_p.S10F	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1385	Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ATTTTCCTGGGATTGACTCCG	0.448000														34			6		0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:58385762C>G	uc002qqo.2	-	2	1268	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(4)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000														9			3		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480303	10480303	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:10480303C>T	uc003wtc.3	-	1	638	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	137					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTGGGGCTTCACGCTGGCCT	0.602000														49			14		0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28206666	28206666	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:28206666G>A	uc003xgq.3	-	8	1494	c.1406C>T	c.(1405-1407)cCa>cTa	p.P469L	ZNF395_uc003xgt.3_Missense_Mutation_p.P469L|ZNF395_uc003xgr.3_Missense_Mutation_p.P469L|ZNF395_uc003xgs.3_Missense_Mutation_p.P469L	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	469					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGCCCGGGGTGGAGAAGTGAC	0.652000														224			44		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974661	49974661	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:49974661G>A	uc010rhz.2	+	0	719	c.687G>A	c.(685-687)gaG>gaA	p.E229E		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E229Q(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ACAGCTTAGAGGCAAGGCACG	0.478000														117			10		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101762998	101762998	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:101762998C>T	uc001vox.1	-	19	2525	c.2336G>A	c.(2335-2337)gGa>gAa	p.G779E		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	779						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGAGATTTTCCCCTGCTGAT	0.378000														123			10		0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462722	5462722	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:5462722G>A	uc010qze.2	-	0	62	c.23C>T	c.(22-24)cCc>cTc	p.P8L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTGGAAGGGGGTGCCATT	0.502000														110			13		0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24104250	24104250	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:24104250G>A	uc002dmd.3	+	5	865	c.668G>A	c.(667-669)tGg>tAg	p.W223*	PRKCB_uc002dme.3_Nonsense_Mutation_p.W223*	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	223	C2.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AACCCTGAGTGGAATGAGACA	0.478000														70			18		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116599802	116599802	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:116599802G>A	uc002tle.3	+	25	2305	c.2284G>A	c.(2284-2286)Ggt>Agt	p.G762S	DPP10_uc002tla.2_Missense_Mutation_p.G758S|DPP10_uc002tlb.2_Missense_Mutation_p.G708S|DPP10_uc002tlc.2_Missense_Mutation_p.G754S|DPP10_uc002tlf.2_Missense_Mutation_p.G751S	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	758					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCCAGATGAAGGTCATAACGT	0.393000														40			6		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816385	156816385	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:156816385C>T	uc021ygm.1	+	28	3531	c.3393C>T	c.(3391-3393)gcC>gcT	p.A1131A	CYFIP2_uc011ddn.2_Silent_p.A1106A|CYFIP2_uc011ddo.2_Silent_p.A936A|CYFIP2_uc021ygn.1_Silent_p.A1131A|CYFIP2_uc021ygo.1_Silent_p.A1131A|CYFIP2_uc003lwt.3_Silent_p.A1035A|CYFIP2_uc011ddp.2_Silent_p.A866A	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1157					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)			TGTGGAGCGCCATGCAGTTCG	0.622000														35			7		0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27325067	27325067	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:27325067G>A	uc010eyr.2	-	3	611	c.606C>T	c.(604-606)ctC>ctT	p.L202L	CGREF1_uc010ylf.2_5'UTR|CGREF1_uc021vez.1_Silent_p.L80L|CGREF1_uc002riq.3_Silent_p.L80L|CGREF1_uc021vfa.1_Silent_p.L80L|CGREF1_uc010eys.2_Silent_p.L80L|CGREF1_uc002rir.2_Silent_p.L80L	NM_006569	NP_006560	Q99674	CGRE1_HUMAN	Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA.	80					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATAGTCATGGAGGGCAAAGA	0.577000														26			5		0	0	1	0	0
AV2S1A1	0	broad.mit.edu	37	14	22356656	22356656	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:22356656C>T	uc021rph.1	+	1	419	c.317C>T	c.(316-318)tCa>tTa	p.S106L	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Missense_Mutation_p.S106L|AV2S1A1_uc021rpi.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 117-2.																		CCCAGTGATTCAGCCACCTAC	0.517000														200			60		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114682476	114682476	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:114682476C>A	uc021osa.1	-	1	351	c.273G>T	c.(271-273)aaG>aaT	p.K91N	SYT6_uc021orz.1_Missense_Mutation_p.K6N|SYT6_uc001eev.3_Missense_Mutation_p.K6N	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	91					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGAGGCCTCCTTGTTCCTCC	0.577000														101			10		3.07112e-06	3.10224e-06	1	1	0
RNF168	165918	broad.mit.edu	37	3	196215503	196215503	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:196215503C>T	uc003fwq.3	-	1	948	c.353G>A	c.(352-354)aGa>aAa	p.R118K	RNF168_uc010iah.3_Intron	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	118	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-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;0.00348)		TTCATATTCTCTTCTCAGTTC	0.308000														36			12		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941471	144941471	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:144941471C>T	uc003zaa.1	-	0	5964	c.5951G>A	c.(5950-5952)gGa>gAa	p.G1984E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1984						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)			GATCGTGTCTCCTGTGGCCGG	0.642000														61			9		0	0	1	0	0
RAB31	11031	broad.mit.edu	37	18	9859270	9859270	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr18:9859270G>A	uc002kog.2	+	6	711	c.536G>A	c.(535-537)gGa>gAa	p.G179E		NM_006868	NP_006859	Q13636	RAB31_HUMAN	Homo sapiens RAB31, member RAS oncogene family (RAB31), mRNA.	178					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						GGAAACAATGGAACAATCAAA	0.557000														56			6		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760199	133760200	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:133760199_133760200CC>TT	uc004bzw.3	+	10	2525_2526	c.2522_2523CC>TT	c.(2521-2523)gcc>gTT	p.A841V	ABL1_uc004bzv.3_Missense_Mutation_p.A860V	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	841	Pro-rich.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AAGGGCAGTGCCTTAGGGACCC	0.683000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									31			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262024	140262025	+	Missense_Mutation	DNP	GG	AA	AA	rs141467715		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:140262024_140262025GG>AA	uc003lif.2	+	0	171_172	c.171_172GG>AA	c.(169-174)gcggag>gcAAag	p.E58K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.E58K|PCDHAC2_uc003lid.3_Missense_Mutation_p.E58K	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	71	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGGAGCTGGTGCC	0.609000														88			9		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363357	42363357	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:42363357C>T	uc001zox.3	-	16	1935	c.1840G>A	c.(1840-1842)Gac>Aac	p.D614N		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	614	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTACAGTAGTCCTGGTGCAGC	0.657000														42			7		0	0	1	0	0
C22orf43	51233	broad.mit.edu	37	22	23962796	23962796	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:23962796G>A	uc002zxf.3	-	4	689	c.391C>T	c.(391-393)Ccg>Tcg	p.P131S		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.	131	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						ACACGTGACGGTAAAATCTGC	0.398000														224			9		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767897	77767897	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:77767897G>A	uc003yau.2	+	9	9127	c.8740G>A	c.(8740-8742)Gga>Aga	p.G2914R	ZFHX4_uc003yaw.1_Missense_Mutation_p.G2869R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2869						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)			AAATCCATTCGGATCCAGCAA	0.512000										HNSCC(33;0.089)				38			11		0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954911	30954911	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:30954911C>T	uc003nsh.2	+	1	1210	c.959C>T	c.(958-960)tCc>tTc	p.S320F	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S304F	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	320	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AACTCTGACTCCAGCACAACC	0.607000														373			22		0	0	1	0	0
MBL1P	8512	broad.mit.edu	37	10	81667430	81667430	+	RNA	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:81667430G>A	uc021puw.1	+	2		c.368G>A								Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) pseudogene (LOC100288974), non-coding RNA.																		ATAGGACTCAGGATTTGAAGA	0.348000														36			7		0	0	1	0	0
BCL7B	9275	broad.mit.edu	37	7	72966521	72966521	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:72966521C>T	uc003tyf.2	-	1	301	c.144G>A	c.(142-144)tgG>tgA	p.W48*	BCL7B_uc003tye.2_Non-coding_Transcript|BCL7B_uc003tyg.2_Nonsense_Mutation_p.W48*	NM_001707	NP_001698	Q9BQE9	BCL7B_HUMAN	Homo sapiens B-cell CLL/lymphoma 7B (BCL7B), transcript variant 1, mRNA.	48							actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCACAGGAACCCACTTAAATA	0.368000														114			22		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703093	33703093	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:33703093A>C	uc001uuw.3	-	4	1847	c.1721T>G	c.(1720-1722)gTa>gGa	p.V574G	STARD13_uc001uuu.3_Missense_Mutation_p.V566G|STARD13_uc001uuv.3_Missense_Mutation_p.V456G|STARD13_uc001uux.3_Missense_Mutation_p.V539G|STARD13_uc010abh.1_Missense_Mutation_p.V559G|STARD13_uc021rhz.1_Missense_Mutation_p.V566G|STARD13_uc021ria.1_Missense_Mutation_p.V456G	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	574					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGAGGCCCCTACACCAGAATC	0.453000														69			9		0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89998119	89998119	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:89998119A>T	uc001tbh.3	-	14	2628	c.2447T>A	c.(2446-2448)aTt>aAt	p.I816N	ATP2B1_uc001tbg.3_Missense_Mutation_p.I816N|ATP2B1_uc001tbf.3_Missense_Mutation_p.I486N	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	816					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						AGTTCCAGCAATACCCTGTTA	0.294000														31			3		0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152201873	152201873	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:152201873C>T	uc010kio.3	+	3	951	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	ESR1_uc003qom.4_Missense_Mutation_p.R243C|ESR1_uc010kin.3_Missense_Mutation_p.R243C|ESR1_uc010kip.3_Missense_Mutation_p.R243C|ESR1_uc003qon.4_Missense_Mutation_p.R243C|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Missense_Mutation_p.R243C|ESR1_uc010kiq.3_5'UTR|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Non-coding_Transcript|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Missense_Mutation_p.R70C|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Missense_Mutation_p.R24C	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	243	Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CTGCCGGCTCCGTAAATGCTA	0.547000														36			15		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145629453	145629453	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:145629453G>A	uc003ijs.2	+	6	1971	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	431						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TGGGCTCCACGATCCAGGCAG	0.517000														49			17		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831555	47831555	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr21:47831555C>T	uc002zji.4	+	27	5675	c.5568C>T	c.(5566-5568)atC>atT	p.I1856I	PCNT_uc002zjj.3_Silent_p.I1738I	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1856					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTCCCGGATCCAGGAGTTCG	0.617000														53			10		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230377642	230377642	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:230377642G>A	uc002vpv.3	-	5	1151	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F	DNER_uc010zly.1_Missense_Mutation_p.S63F	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	335	EGF-like 3.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ACAGGTACAGGAAAAAGTTGC	0.438000														22			3		0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079798	29079798	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:29079798G>A	uc011dll.2	+	0	131	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	44					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						ACACTGATAGGAAACCTGTTC	0.413000														206			39		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10912933	10912933	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:10912933G>A	uc003mzo.3	+	12	1242	c.946G>A	c.(946-948)Gag>Aag	p.E316K	SYCP2L_uc011din.1_Missense_Mutation_p.E157K|SYCP2L_uc010jow.3_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	316						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGAAAAATTAGAGAAATTTTG	0.353000														63			17		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52557975	52557975	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:52557975G>A	uc003dej.3	+	66	7558	c.7484G>A	c.(7483-7485)gGa>gAa	p.G2495E	STAB1_uc003del.3_Missense_Mutation_p.G407E	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2495					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTGGTGGCCGGAGCTCTCTAC	0.657000														31			4		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907868	12907868	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:12907868C>T	uc010obf.2	-	1	501	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	LOC649330_uc009vno.2_Missense_Mutation_p.R92Q	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	92							nucleic acid binding|nucleotide binding										TGCGTTTCCTCGGTTCACTTT	0.483000														167			4		0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56667389	56667389	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:56667389C>G	uc003did.4	-	16	3348	c.3247G>C	c.(3247-3249)Gat>Cat	p.D1083H	FAM208A_uc003dib.4_Missense_Mutation_p.D202H|FAM208A_uc003dic.4_Missense_Mutation_p.D707H|FAM208A_uc003die.4_Missense_Mutation_p.D1144H	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	Homo sapiens family with sequence similarity 208, member A (FAM208A), transcript variant 2, mRNA.	1144										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GAGTTGGTATCTTTCAAAGGA	0.423000														213			52		0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165693599	165693599	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:165693599C>T	uc003qum.4	-	9	1393	c.1357_splice	c.e9-1	p.G453_splice		NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	453										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCCAAAGGCCCCTTAAAATAC	0.308000														23			7		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157222	154157222	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:154157222C>T	uc004fmt.3	-	13	5014	c.4843G>A	c.(4843-4845)Gat>Aat	p.D1615N		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1615	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAAATGGTATCCTTTTTCTTA	0.413000														76			28		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469266	10469266	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:10469266G>A	uc003wtc.3	-	3	2571	c.2342C>T	c.(2341-2343)tCc>tTc	p.S781F		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	781					intracellular signal transduction			p.S781S(3)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCAGGAGTCGGATGTGTGGGG	0.662000														129			32		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188238	152188238	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:152188238G>A	uc001ezt.1	-	2	5943	c.5867C>T	c.(5866-5868)tCt>tTt	p.S1956F		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1956					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)			CCCAGAACCAGACCCATGTCG	0.617000														742			13		0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563644	75563644	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr16:75563644G>A	uc002fej.1	-	4	978	c.657C>T	c.(655-657)ccC>ccT	p.P219P	CHST5_uc002fei.3_Silent_p.P213P|CHST5_uc021tlk.1_Silent_p.P213P	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	213					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	p.P213P(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGTTGAGCGCGGGGTCGCTGA	0.711000														70			25		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141175	143141175	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:143141175C>T	uc011ktg.2	+	0	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	210					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTGTCTTTTTCATTTGCATGA	0.453000														153			36		0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081467	54081467	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:54081467G>A	uc021vhn.1	-	0	427	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Missense_Mutation_p.R143W	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	143						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATCCGGAGCCGGTGCAGGGCG	0.562000														132			11		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423747	107423747	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:107423747C>T	uc003ver.2	-	8	1233	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E	SLC26A3_uc003ves.2_Missense_Mutation_p.G306E	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	341					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAAGCAATCTCCTACGGTGTT	0.423000														60			22		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777717	237777717	+	Silent	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:237777717T>C	uc001hyl.1	+	36	5409	c.5289T>C	c.(5287-5289)ttT>ttC	p.F1763F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1763	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGATGCAGTTTTCCTCCCCCA	0.512000														71			8		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120837921	120837921	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:120837921G>A	uc001pxn.2	+	18	2571	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K	GRIK4_uc009zaw.1_Missense_Mutation_p.E762K|GRIK4_uc009zax.1_Missense_Mutation_p.E762K	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	762					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TTTCCGGGACGAGTTTGATCT	0.592000														55			7		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064086	7064086	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:7064086G>A	uc001mfb.1	+	3	1152	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	277	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGCACTGTGCGAAGACTGGAC	0.448000														74			17		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21938077	21938077	+	RNA	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:21938077C>T	uc010tzj.1	-	0		c.2663G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CCTGCTCATTCGCACGGGAGG	0.512000														279			22		0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220180604	220180604	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:220180604G>A	uc001hly.1	-	13	1952	c.1682C>T	c.(1681-1683)tCg>tTg	p.S561L	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Missense_Mutation_p.S312L|EPRS_uc001hlz.1_Missense_Mutation_p.S568L|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	561	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CTCACCCTCCGAAAAAGTCTC	0.368000														50			4		0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233715038	233715038	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:233715038C>T	uc002vtj.4	+	29	4081	c.3814C>T	c.(3814-3816)Caa>Taa	p.Q1272*	GIGYF2_uc002vti.4_Nonsense_Mutation_p.Q1251*|GIGYF2_uc002vtk.4_Nonsense_Mutation_p.Q1251*|GIGYF2_uc002vth.4_Nonsense_Mutation_p.Q1245*|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc002vtq.4_Nonsense_Mutation_p.Q584*	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	1251					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAGCAACAACCAACAATCCAA	0.453000														115			11		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595578	55595578	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:55595578A>G	uc001nhy.1	+	0	884	c.884A>G	c.(883-885)aAg>aGg	p.K295R		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTGAGAAATAAGGATGTGAAC	0.463000										HNSCC(27;0.073)				47			9		0	0	1	0	0
FAM221B	392307	broad.mit.edu	37	9	35819948	35819948	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:35819948C>T	uc010mlc.2	-	3	1077	c.792G>A	c.(790-792)cgG>cgA	p.R264R	FAM221B_uc003zyj.2_Non-coding_Transcript|FAM221B_uc011lpg.1_Silent_p.R264R	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	Homo sapiens chromosome 9 open reading frame 128 (C9orf128), mRNA.	264										endometrium(2)|kidney(1)|lung(4)	7						CATCCCCAATCCGGAAACAGT	0.512000														54			12		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943054	12943054	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:12943054C>T	uc001aun.2	-	1	233	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	54										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCAGCTTCAGGGCCTCAC	0.612000														48			21		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111078215	111078215	+	Silent	SNP	G	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:111078215G>T	uc004epl.1	-	6	2749	c.1830C>A	c.(1828-1830)gtC>gtA	p.V610V	TRPC5_uc004epm.1_Silent_p.V610V	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	610					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCAGGGAGATGACATTGTATG	0.423000														306			5		0.0293803	0.0294789	1	1	0
PRPS1L1	221823	broad.mit.edu	37	7	18066766	18066766	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:18066766G>A	uc003stz.3	-	0	721	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	214	Binding of phosphoribosylpyrophosphate (Potential).				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					ATAGCCACACGATCATTCACA	0.453000														130			23		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44828178	44828178	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:44828178G>A	uc002xrm.2	-	6	1706	c.1307C>T	c.(1306-1308)tCa>tTa	p.S436L	CDH22_uc010ghk.1_Missense_Mutation_p.S436L	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	436	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E435K(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GTCCAAATCTGATTCGCGGTC	0.612000														33			6		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193130071	193130071	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:193130071C>T	uc003ftd.3	-	26	3212	c.3104G>A	c.(3103-3105)aGt>aAt	p.S1035N	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	1035					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)		GTTCTCAAAACTTGTGAAGGT	0.398000														235			40		0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58723654	58723654	+	Silent	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:58723654T>C	uc002qrq.1	+	8	1563	c.1104T>C	c.(1102-1104)gaT>gaC	p.D368D	ZNF274_uc002qrr.1_Silent_p.D336D|ZNF274_uc002qrs.1_Silent_p.D263D|ZNF274_uc010eum.1_Silent_p.D128D	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	369					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CATTAGAAGATACCTTGCAGG	0.483000														38			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058283	9058283	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:9058283C>T	uc002mkp.3	-	2	29367	c.29163G>A	c.(29161-29163)gtG>gtA	p.V9721V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9723	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						TAGTTGTTTCCACAAAGCGAG	0.493000														30			5		0	0	1	0	0
SCGB2B2	284402	broad.mit.edu	37	19	35085113	35085113	+	Silent	SNP	G	A	A	rs139007213		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:35085113G>A	uc002nvn.3	-	1	235	c.213C>T	c.(211-213)tcC>tcT	p.S71S		NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN	Homo sapiens secretoglobin, family 2B, member 2 (SCGB2B2), mRNA.	71						extracellular region	binding										TTTCTGTCACGGAGACATTGG	0.542000														82			27		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111666393	111666393	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:111666393G>A	uc010yxk.1	+	10	1040	c.816G>A	c.(814-816)aaG>aaA	p.K272K	ACOXL_uc021vmm.1_Silent_p.K95K|ACOXL_uc021vmn.1_Silent_p.K95K	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	272					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CCAAAACCAAGGAAGAGGTGA	0.532000														81			9		0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2991877	2991877	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:2991877C>T	uc002lwt.2	+	13	1390	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	TLE6_uc002lwu.2_Silent_p.I304I	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	304					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		TCAAGAGTATCGTGGTCAAGG	0.557000														67			7		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936635	4936635	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:4936635G>A	uc001lzr.1	-	0	259	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGATGCCCAGGACTGTAGGG	0.493000														37			10		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57399080	57399080	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:57399080C>T	uc001cyp.3	-	9	1547	c.1480G>A	c.(1480-1482)Gag>Aag	p.E494K	C8B_uc010oon.2_Missense_Mutation_p.E432K|C8B_uc010ooo.2_Missense_Mutation_p.E442K	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	494	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGGAACTCCTCCAGTGCCTGC	0.527000														63			7		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123526147	123526147	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:123526147C>T	uc010nqy.3	-	27	5507	c.5443G>A	c.(5443-5445)Gga>Aga	p.G1815R	ODZ1_uc011muj.2_Missense_Mutation_p.G1814R|ODZ1_uc004euj.3_Missense_Mutation_p.G1808R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1808					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TAGATCTTTCCTGTGCGGGTT	0.413000														52			23		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690878	38690878	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:38690878C>T	uc021yzh.1	+	1	402	c.293C>T	c.(292-294)tCg>tTg	p.S98L	DNAH8_uc003ooe.2_5'UTR	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAGTGATTTCGGAAGTGCTG	0.502000														85			21		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137717748	137717748	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:137717748G>A	uc004cfe.3	+	62	5447	c.5065G>A	c.(5065-5067)Ggg>Agg	p.G1689R	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1689	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAAGTCCGAAGGGGTGAGTAG	0.562000														42			6		0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71906414	71906414	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:71906414G>A	uc001orz.2	+	3	544	c.268G>A	c.(268-270)Gga>Aga	p.G90R	FOLR1_uc001osa.2_Missense_Mutation_p.G90R|FOLR1_uc001osb.2_Missense_Mutation_p.G90R|FOLR1_uc001osd.2_Missense_Mutation_p.G90R	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	90					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						GAACCACTGTGGAGAGATGGC	0.547000														301			52		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111418398	111418398	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:111418398C>T	uc003vfy.3	-	36	3990	c.3721G>A	c.(3721-3723)Gag>Aag	p.E1241K	DOCK4_uc011kml.2_Missense_Mutation_p.E77K|DOCK4_uc011kmm.2_Missense_Mutation_p.E103K|DOCK4_uc003vfw.3_Missense_Mutation_p.E646K|DOCK4_uc003vfx.3_Missense_Mutation_p.E1196K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1196	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TACATCTCCTCCTTGTTCAGT	0.388000														84			21		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429121	135429121	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chrX:135429121C>T	uc004ezu.1	+	5	3547	c.3256C>T	c.(3256-3258)Cgt>Tgt	p.R1086C	GPR112_uc010nsb.1_Missense_Mutation_p.R881C|GPR112_uc010nsc.1_Missense_Mutation_p.R853C	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1086					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I1085S(1)		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)					AGACTTGATTCGTACCACTTC	0.463000														123			79		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528735	57528735	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:57528735G>A	uc011kdi.1	+	3	680	c.568G>A	c.(568-570)Gat>Aat	p.D190N		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATGTAAAAACGATGGCAAATC	0.328000														11			3		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7457003	7457003	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:7457003G>A	uc001qsx.1	+	0	76	c.76G>A	c.(76-78)Gat>Aat	p.D26N		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	26					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CTTACACAAAGATCACCAGCT	0.463000														183			35		0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29394788	29394788	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:29394788G>A	uc003nmg.3	-	0	722	c.631C>T	c.(631-633)Cct>Tct	p.P211S		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						AGTCCAAAAGGAATAGTGAGG	0.507000														46			15		0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40800412	40800412	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr22:40800412C>T	uc003ayu.1	+	4	528	c.319C>T	c.(319-321)Ctc>Ttc	p.L107F	SGSM3_uc010gyc.1_Missense_Mutation_p.L107F|SGSM3_uc011aos.1_Missense_Mutation_p.L40F|SGSM3_uc011aot.1_Missense_Mutation_p.L44F	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	107					Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CTCTGAGAAGCTCCGCTCCCT	0.637000														49			16		0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98209334	98209334	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:98209334G>A	uc004avk.4	-	22	4392	c.4204C>T	c.(4204-4206)Cct>Tct	p.P1402S	PTCH1_uc010mrn.3_Missense_Mutation_p.P194S|PTCH1_uc010mro.3_Missense_Mutation_p.P1251S|PTCH1_uc010mrp.3_Missense_Mutation_p.P1251S|PTCH1_uc010mrq.3_Missense_Mutation_p.P1251S|PTCH1_uc004avl.4_Missense_Mutation_p.P1251S|PTCH1_uc004avm.4_Missense_Mutation_p.P1401S|PTCH1_uc010mrr.3_Missense_Mutation_p.P1336S	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1402					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TCAGTCTCAGGGTAGCCTGGG	0.657000														89			21		0	0	1	0	0
WDR76	79968	broad.mit.edu	37	15	44158466	44158466	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr15:44158466C>T	uc001zti.2	+	12	1876	c.1757C>T	c.(1756-1758)tCg>tTg	p.S586L	WDR76_uc021skg.1_Missense_Mutation_p.S522L	NM_024908	NP_001161413	Q9H967	WDR76_HUMAN	Homo sapiens WD repeat domain 76 (WDR76), transcript variant 1, mRNA.	586										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		AGGGTGCATTCGTTTGGTGGA	0.483000														92			32		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16680143	16680143	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:16680143G>A	uc003jft.4	-	32	4923	c.4455C>T	c.(4453-4455)gcC>gcT	p.A1485A	MYO10_uc011cnb.2_Silent_p.A114A|MYO10_uc011cnc.2_Silent_p.A364A|MYO10_uc011cnd.2_Silent_p.A842A|MYO10_uc011cne.2_Silent_p.A842A|MYO10_uc010itx.3_Silent_p.A1107A	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1485	PH 2.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ACCACCGGGTGGCCTCGTTGA	0.587000														41			6		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80136772	80136773	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:80136772_80136773CC>TT	uc010ysh.2	+	5	910_911	c.905_906CC>TT	c.(904-906)tcc>tTT	p.S302F	CTNNA2_uc010yse.2_Missense_Mutation_p.S302F|CTNNA2_uc010ysf.2_Missense_Mutation_p.S302F|CTNNA2_uc010ysg.2_Missense_Mutation_p.S302F	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	302					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTCCGGCCGTCCCTGGAGGAGA	0.589000														82			9		0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45575004	45575004	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:45575004T>C	uc002pao.3	-	2	1340	c.1283A>G	c.(1282-1284)aAg>aGg	p.K428R		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	Homo sapiens zinc finger protein 296 (ZNF296), mRNA.	428					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GCGGTTGAGCTTACTGCTCTG	0.662000														77			24		0	0	1	0	0
HBP1	26959	broad.mit.edu	37	7	106822999	106822999	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:106822999C>T	uc003vdy.3	+	2	537	c.351C>T	c.(349-351)atC>atT	p.I117I	HBP1_uc011klv.2_Silent_p.I127I|HBP1_uc003vdz.3_Silent_p.I117I|HBP1_uc003vea.3_Silent_p.I117I|HBP1_uc003veb.1_Silent_p.I117I	NM_012257	NP_036389	O60381	HBP1_HUMAN	Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA.	117					Wnt receptor signaling pathway|cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TGGCAAATATCGCGACCAGTC	0.373000														43			5		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110825076	110825076	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:110825076C>T	uc001vqw.4	-	40	3669	c.3547G>A	c.(3547-3549)Gga>Aga	p.G1183R		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1183	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTGTCTCCTTTGGCCCCT	0.478000														134			12		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70451302	70451302	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:70451302T>C	uc001jok.4	+	11	6647	c.6142T>C	c.(6142-6144)Ttt>Ctt	p.F2048L		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	2048					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTCCCTTGTCTTTTACCAGCA	0.468000														54			17		0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157183325	157183325	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:157183325C>T	uc002tyz.4	-	5	1688	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	NR4A2_uc021vri.1_Silent_p.E397E|NR4A2_uc002tyx.4_Silent_p.E359E|NR4A2_uc010zcf.2_Silent_p.E422E|NR4A2_uc010zcg.1_Silent_p.E44E	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	422	Ligand-binding (Potential).				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CAGGGATCTTCTCTGCCCAGC	0.493000														191			28		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788353	42788353	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:42788353C>T	uc002xli.1	-	1	1947	c.1074G>A	c.(1072-1074)aaG>aaA	p.K358K		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	358					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCTTGTTGCTCTTGAGCTGCA	0.662000														55			14		0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128040441	128040441	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr7:128040441G>A	uc011kol.1	-	4	583	c.477C>T	c.(475-477)acC>acT	p.T159T	IMPDH1_uc011kom.1_Silent_p.T154T|IMPDH1_uc003vmt.2_Silent_p.T134T|IMPDH1_uc003vmu.2_Silent_p.T244T|IMPDH1_uc003vmx.2_Silent_p.T167T|IMPDH1_uc003vmy.2_Silent_p.T175T|IMPDH1_uc003vmw.2_Silent_p.T234T|IMPDH1_uc011kon.1_Silent_p.T211T|IMPDH1_uc003vmv.2_Silent_p.T208T	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	159	CBS 1.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	TGTCTCGGGAGGTGACGATGC	0.617000														28			3		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842008	8842008	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:8842008C>T	uc010xkg.2	+	0	618	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGTGCTGATCCTAATGCTCC	0.572000														102			12		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140284901	140284901	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:140284901G>A	uc003etn.3	+	16	2864	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	892	Glu-rich (highly acidic).				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCAGAAACATGAAGGACCAGG	0.488000										HNSCC(16;0.037)				35			7		0	0	1	0	0
GSC	145258	broad.mit.edu	37	14	95234853	95234853	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:95234853T>C	uc001ydu.3	-	2	896	c.749A>G	c.(748-750)aAa>aGa	p.K250R		NM_173849	NP_776248	P56915	GSC_HUMAN	Homo sapiens goosecoid homeobox (GSC), mRNA.	250					gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		CAAATCGCTTTTACCTTCCTC	0.557000														120			34		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63175092	63175092	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr14:63175092G>A	uc001xfx.3	-	10	2152	c.2101C>T	c.(2101-2103)Ccc>Tcc	p.P701S	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	701					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGGTCCACGGGAATGCTGAGG	0.532000														122			38		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8484375	8484375	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:8484375G>A	uc003zkk.3	-	29	3900	c.3157C>T	c.(3157-3159)Ctt>Ttt	p.L1053F	PTPRD_uc003zkp.3_Missense_Mutation_p.L642F|PTPRD_uc003zkq.3_Missense_Mutation_p.L642F|PTPRD_uc003zkr.3_Missense_Mutation_p.L637F|PTPRD_uc003zks.3_Missense_Mutation_p.L632F|PTPRD_uc022bdj.1_Missense_Mutation_p.L639F	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1053	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L1053I(4)|p.L1053V(2)		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)		TCATCATAAAGAATCTAAAGA	0.338000										TSP Lung(15;0.13)				16			3		0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879707	27879707	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:27879707G>A	uc011dkw.2	-	0	468	c.391C>T	c.(391-393)Cat>Tat	p.H131Y		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						ATTGAGTAATGGAGAGGCCGA	0.483000														94			15		0	0	1	0	0
FBP1	2203	broad.mit.edu	37	9	97365738	97365738	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:97365738C>T	uc004auw.4	-	6	1273	c.942G>A	c.(940-942)agG>agA	p.R314R	FBP1_uc010mrl.3_Silent_p.R314R	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	314					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TCACCGGCGCCCTCTGGTGAA	0.602000											OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			15		0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34858987	34858987	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:34858987G>A	uc010wcy.2	-	21	3022	c.2030C>T	c.(2029-2031)cCt>cTt	p.P677L	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.P477L	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	677	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGATGTGCAAGGATGAAGCCT	0.502000														273			23		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136594258	136594258	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:136594258G>A	uc002tuu.1	-	0	493	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	161	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTCCCCGAAGGAGTGGAAGGC	0.572000														59			8		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855057	53855057	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:53855057C>T	uc010ydv.1	+	3	1246	c.1129C>T	c.(1129-1131)Cat>Tat	p.H377Y	ZNF845_uc010ydw.1_Missense_Mutation_p.H377Y	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAGGAAAATTCATACTGGAGA	0.403000														50			9		0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33770918	33770918	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:33770918T>G	uc002hjk.1	-	1	1418	c.1088A>C	c.(1087-1089)gAg>gCg	p.E363A	SLFN13_uc010wch.1_Missense_Mutation_p.E363A|SLFN13_uc002hjl.2_Missense_Mutation_p.E363A|SLFN13_uc002hjm.2_Missense_Mutation_p.E32A|SLFN13_uc010ctt.2_Missense_Mutation_p.E45A	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	363						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTCAAAGGCCTCAGCAAAGTC	0.398000														52			4		0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28783309	28783309	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:28783309C>T	uc002hfb.2	+	15	3430	c.3373C>T	c.(3373-3375)Ctt>Ttt	p.L1125F	CPD_uc010wbo.2_Missense_Mutation_p.L878F|CPD_uc010wbp.2_Intron	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	1125	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TTTGGCATCTCTTTATGCAAA	0.363000														65			12		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249761	52249761	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:52249761G>A	uc021uyn.1	-	2	633	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	FPR1_uc002pxq.3_Missense_Mutation_p.R163C|FPR1_uc021uyo.1_Missense_Mutation_p.R163C	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	163					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTAGTCACACGAATGATAACT	0.537000														83			6		0	0	1	0	0
SH3BP5	9467	broad.mit.edu	37	3	15311315	15311315	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr3:15311315C>T	uc003bzp.1	-	3	589	c.400G>A	c.(400-402)Gag>Aag	p.E134K	SH3BP5_uc003bzq.1_5'UTR|SH3BP5_uc003bzr.1_5'UTR	NM_004844	NP_001018009	O60239	3BP5_HUMAN	Homo sapiens SH3-domain binding protein 5 (BTK-associated) (SH3BP5), transcript variant 1, mRNA.	134					intracellular signal transduction	mitochondrion	SH3 domain binding|protein kinase inhibitor activity			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GAGATGGTCTCCTTGGCGGCA	0.607000														222			41		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111158773	111158773	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr13:111158773C>T	uc001vqx.3	+	45	4703	c.4414C>T	c.(4414-4416)Cgt>Tgt	p.R1472C		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1472	Triple-helical region.				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)			TGCACCAGGCCGTCCAGGGAG	0.672000														24			4		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56496088	56496088	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:56496088G>A	uc003pcy.4	-	15	2560	c.2452C>T	c.(2452-2454)Cct>Tct	p.P818S	DST_uc021zay.1_Missense_Mutation_p.P1184S|DST_uc021zax.1_Missense_Mutation_p.P818S|DST_uc003pdc.4_Missense_Mutation_p.P818S|DST_uc003pdd.4_Missense_Mutation_p.P818S	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	1144					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGTAGGGTAGGGACTGATGAA	0.393000														62			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179545869	179545869	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:179545869C>T	uc021vsy.1	-	134	29770	c.29545G>A	c.(29545-29547)Gaa>Aaa	p.E9849K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6510K|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10776	Ig-like 79.						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)			CGTATTTTTTCCTCAAAAACT	0.318000														23			4		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933664	62933664	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:62933664G>A	uc001nwr.1	-	6	1137	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_3'UTR	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	379					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TCTGCAACAGGAAAACATTGT	0.478000														71			16		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46331287	46331287	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:46331287C>T	uc002xto.3	-	3	873	c.543G>A	c.(541-543)gaG>gaA	p.E181E	SULF2_uc002xtr.3_Silent_p.E181E|SULF2_uc002xtq.3_Silent_p.E181E|SULF2_uc010ghv.1_Silent_p.E181E	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	181					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGCCGTGCTTCTCTTTCACCC	0.572000														46			16		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363414	22363414	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:22363414C>T	uc002nqs.1	-	2	1423	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATCCTTCACATTTG	0.393000														80			10		0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98938116	98938117	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr12:98938116_98938117CC>GT	uc001tfj.3	+	4	1067_1068	c.772_773CC>GT	c.(772-774)cca>GTa	p.P258V	TMPO_uc001tfl.3_Intron|TMPO_uc001tfk.3_Intron	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 2, mRNA.	258	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGAAGAACTCCAAGGAAAAGG	0.376000														98			12		0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233407617	233407618	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:233407617_233407618CC>TT	uc002vsx.1	+	6	651_652	c.630_631CC>TT	c.(628-633)caccga>caTTga	p.R211*	CHRNG_uc010fye.1_Nonsense_Mutation_p.R159*	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	211					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCATCCAGCACCGACCAGCCAA	0.644000														32			4		0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077107	19077107	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr11:19077107G>A	uc001mph.3	-	1	931	c.843C>T	c.(841-843)ttC>ttT	p.F281F	MRGPRX2_uc021qer.1_Silent_p.F281F	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	281					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AAGAGCCCACGAAGAAGTAAA	0.498000														69			8		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50804990	50804990	+	Silent	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:50804990C>T	uc010enu.1	+	39	5589	c.5542C>T	c.(5542-5544)Ctg>Ttg	p.L1848L	MYH14_uc002prq.1_Silent_p.L1815L|MYH14_uc002prr.1_Silent_p.L1807L|MYH14_uc010ycb.2_Silent_p.L158L|MYH14_uc002prs.1_Silent_p.L158L	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1807					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCGGCAGCAGCTGGAACGGCA	0.612000														51			10		0	0	1	0	0
FBP2	8789	broad.mit.edu	37	9	97329558	97329558	+	Silent	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr9:97329558G>A	uc004auv.3	-	4	766	c.699C>T	c.(697-699)ttC>ttT	p.F233F	BC080653_uc004aus.1_Intron|BC080653_uc004aut.1_Intron	NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	233					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TCACCTCAGGGAATTTCTTTT	0.478000														121			27		0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249211370	249211370	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:249211370G>A	uc001ifh.3	+	2	734	c.587G>A	c.(586-588)aGg>aAg	p.R196K	PGBD2_uc001ifg.3_Intron|PGBD2_uc009xhd.3_Missense_Mutation_p.R193K|PGBD2_uc021pmh.1_5'Flank	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	196										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTTATCCAAGGAGAAGGATG	0.398000														197			44		0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70710060	70710060	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr4:70710060C>T	uc003heo.3	-	7	705	c.592_splice	c.e7-1	p.D198_splice		NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	198					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TTCTGATATCCTAGGGAGAGA	0.338000														32			13		0	0	1	0	0
SLFNL1	200172	broad.mit.edu	37	1	41483806	41483808	+	In_Frame_Del	DEL	TCC	-	-			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr1:41483806_41483808delTCC	uc009vwg.1	-	3	840_842	c.456_458delGGA	c.(454-459)gaggac>gac	p.E152del	LOC100507178_uc021omd.1_Non-coding_Transcript|SLFNL1_uc009vwf.1_In_Frame_Del_p.E152del|SLFNL1_uc001cgn.2_Intron|SLFNL1_uc001cgm.2_In_Frame_Del_p.E152del	NM_001168247	NP_659427	Q499Z3	SLNL1_HUMAN	Homo sapiens schlafen-like 1 (SLFNL1), transcript variant 2, mRNA.	152							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CAGGCCACTGtcctcctcctcct	0.626													---	4	---	---	3	---					
TP53I3	9540	broad.mit.edu	37	2	24303690	24303690	+	Splice_Site	DEL	T	-	-			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr2:24303690delT	uc002rey.2	-	4	1109	c.619_splice	c.e4+1	p.G207_splice	LOC375190_uc002rew.3_Intron|TP53I3_uc002rex.2_Splice_Site_p.V207_splice|TP53I3_uc002rez.2_Splice_Site_p.G207_splice|TP53I3_uc010ykk.2_Splice_Site_p.G118_splice	NM_147184	NP_671713	Q53FA7	QORX_HUMAN	Homo sapiens tumor protein p53 inducible protein 3 (TP53I3), transcript variant 2, mRNA.	207					NADP metabolic process|induction of apoptosis by oxidative stress		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGTTTACCTTTGGTGAATT	0.418													---	285	---	---	33	---					
GABRA1	2554	broad.mit.edu	37	5	161324335	161324336	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr5:161324335_161324336insT	uc010jiw.3	+	10	1746_1747	c.1278_1279insT	c.(1276-1281)gccttcfs	p.A426fs	GABRA1_uc010jix.3_Frame_Shift_Ins_p.A426fs|GABRA1_uc010jiy.3_Frame_Shift_Ins_p.A426fs|GABRA1_uc003lyx.4_Frame_Shift_Ins_p.A426fs|GABRA1_uc010jiz.3_Frame_Shift_Ins_p.A426fs|GABRA1_uc010jja.3_Frame_Shift_Ins_p.A426fs|GABRA1_uc010jjb.3_Frame_Shift_Ins_p.A426fs	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	426					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.A426S(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CAAGAATAGCCTTCCCGCTGCT	0.426													---	182	---	---	15	---					
TFEB	7942	broad.mit.edu	37	6	41658830	41658832	+	In_Frame_Del	DEL	TGC	-	-	rs150746914	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr6:41658830_41658832delTGC	uc021yzl.1	-	0	322_324	c.321_323delGCA	c.(319-324)cagcaa>caa	p.107_108QQ>Q	TFEB_uc003oqs.1_In_Frame_Del_p.40_41QQ>Q|TFEB_uc003oqt.1_In_Frame_Del_p.40_41QQ>Q|TFEB_uc003oqu.1_In_Frame_Del_p.40_41QQ>Q|TFEB_uc003oqv.1_In_Frame_Del_p.40_41QQ>Q|TFEB_uc010jxo.1_In_Frame_Del_p.40_41QQ>Q|TFEB_uc003oqx.1_In_Frame_Del_p.40_41QQ>Q|TFEB_uc003oqy.1_In_Frame_Del_p.A84del|TFEB_uc003oqz.1_Non-coding_Transcript|TFEB_uc010jxq.1_Non-coding_Transcript|TFEB_uc003oqr.1_In_Frame_Del_p.40_41QQ>Q|TFEB_uc003oqw.1_In_Frame_Del_p.40_41QQ>Q|TFEB_uc010jxp.1_Non-coding_Transcript	NM_007162	NP_009093	P19484	TFEB_HUMAN	Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.	40					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.Q44delQ(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ctgctgctgttgctgctgctgct	0.650			T	ALPHA	renal (childhood epithelioid)						OREG0004069	type=REGULATORY REGION|Gene=TFEB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	8	---	---	4	---					
CHRAC1	54108	broad.mit.edu	37	8	141525279	141525280	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr8:141525279_141525280delAA	uc003yvl.3	+	2	531_532	c.329_330delAA	c.(328-330)gaafs	p.E110fs	CHRAC1_uc010mem.2_Non-coding_Transcript|CHRAC1_uc022bbv.1_Non-coding_Transcript	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	Homo sapiens chromatin accessibility complex 1 (CHRAC1), transcript variant 1, mRNA.	110					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			CTTAAAGAGGAAAAGAGGGAAG	0.356													---	93	---	---	22	---					
ZNF438	220929	broad.mit.edu	37	10	31137605	31137608	+	Frame_Shift_Del	DEL	CAAA	-	-			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr10:31137605_31137608delCAAA	uc010qdz.2	-	6	2161_2164	c.1726_1729delTTTG	c.(1726-1731)tttggcfs	p.F576fs	ZNF438_uc001ivn.3_Frame_Shift_Del_p.F527fs|ZNF438_uc010qdy.2_Frame_Shift_Del_p.F566fs|ZNF438_uc001ivo.4_Frame_Shift_Del_p.F140fs|ZNF438_uc009xlg.3_Frame_Shift_Del_p.F576fs|ZNF438_uc001ivp.4_Frame_Shift_Del_p.F566fs|ZNF438_uc010qea.2_Frame_Shift_Del_p.F576fs|ZNF438_uc010qeb.2_Frame_Shift_Del_p.F576fs|ZNF438_uc010qec.1_Frame_Shift_Del_p.F140fs	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CGGATGTGGCCAAACACTTTTGCA	0.485													---	104	---	---	15	---					
FNDC8	54752	broad.mit.edu	37	17	33454271	33454271	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:33454271delC	uc002hix.3	+	1	502	c.420delC	c.(418-420)tgcfs	p.C140fs		NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN	Homo sapiens fibronectin type III domain containing 8 (FNDC8), mRNA.	140										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		TCGGCCCCTGCCCATGCCCAT	0.577													---	234	---	---	19	---					
VEZF1	7716	broad.mit.edu	37	17	56060475	56060476	+	Frame_Shift_Ins	INS	-	C	C	rs140158628		TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr17:56060475_56060476insC	uc002ivf.1	-	1	455_456	c.312_313insG	c.(310-315)cggccafs	p.R104fs	VEZF1_uc010dcn.1_5'UTR	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	104					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GTTTTCTTTGGCCGGGACACCA	0.535													---	116	---	---	22	---					
PTPRH	5794	broad.mit.edu	37	19	55697279	55697284	+	In_Frame_Del	DEL	CCTACC	-	-	rs61734259	byFrequency	TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr19:55697279_55697284delCCTACC	uc002qjq.3	-	16	2920_2925	c.2847_2852delGGTAGG	c.(2845-2853)ctggtaggt>ctt	p.VG950del	PTPRH_uc010esv.3_In_Frame_Del_p.VG772del	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	950	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CACTTCCTCACCTACCAGGGTTACCC	0.621													---	226	---	---	7	---					
ADAM33	80332	broad.mit.edu	37	20	3655458	3655458	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A3MR-06A-11D-A21A-08	TCGA-D3-A3MR-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca802053-8c00-476c-a7b4-ca9e047b5760	cbaa9547-d331-466f-bb13-1a14393c36bc	g.chr20:3655458delG	uc002wit.3	-	4	459	c.372delC	c.(370-372)cccfs	p.P124fs	ADAM33_uc002wir.1_Frame_Shift_Del_p.P124fs|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Frame_Shift_Del_p.P124fs|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Frame_Shift_Del_p.P136fs|ADAM33_uc010zqh.1_Frame_Shift_Del_p.P124fs	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	124					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCCAGGAGTCGGGGAAGCCCC	0.632													---	74	---	---	9	---