Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SMARCC2	6601	broad.mit.edu	37	12	56575853	56575853	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56575853A>G	uc001skb.3	-	7	749	c.643T>C	c.(643-645)Tgg>Cgg	p.W215R	SMARCC2_uc001skd.3_Missense_Mutation_p.W215R|SMARCC2_uc001ska.3_Missense_Mutation_p.W215R|SMARCC2_uc001skc.3_Missense_Mutation_p.W215R|SMARCC2_uc010sqf.2_Missense_Mutation_p.W104R	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.	215					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)			GCTGGGATCCACGTGTCGTAA	0.443000													7	31					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95502188	95502188	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:95502188A>G	uc003ygo.2	-	22	5334	c.5263T>C	c.(5263-5265)Tta>Cta	p.L1755L	KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1755					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGGGGTCGTAATGGTGGAAGA	0.418000													13	36					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091250	74091250	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:74091250G>A	uc021ulp.1	-	3	3138	c.2820C>T	c.(2818-2820)ggC>ggT	p.G940G	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	940					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGGGCTGCGCGCCAGCCCGGG	0.701000													7	33					0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176981919	176981919	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:176981919C>T	uc002ukj.3	+	0	428	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	120						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TTCTGATAAGCGCAACAAACT	0.493000													24	90					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152807165	152807165	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:152807165G>A	uc004fht.1	+	2	571	c.445G>A	c.(445-447)Gag>Aag	p.E149K	ATP2B3_uc004fhs.1_Missense_Mutation_p.E149K	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	149					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATGAGGGCGAGGCCGAAGC	0.602000													15	26					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14157260	14157260	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:14157260G>A	uc002mxx.3	+	7	1394	c.971G>A	c.(970-972)cGt>cAt	p.R324H		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	324	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	p.R324fs*2(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TCTGCCCCCCGTAGCGTGGCA	0.637000													6	106					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149514471	149514471	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:149514471A>G	uc003lro.3	-	3	942	c.473T>C	c.(472-474)gTg>gCg	p.V158A	PDGFRB_uc010jhd.3_5'UTR|PDGFRB_uc011dcg.1_Missense_Mutation_p.V158A	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	158	Ig-like C2-type 2.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGCAGTGTCACCACCAGCTG	0.498000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								15	70					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53663786	53663786	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:53663786C>T	uc001sck.2	+	2	1151	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	ESPL1_uc001scj.2_Missense_Mutation_p.R29C	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	354					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						CACCAAGAGGCGCTATAGACT	0.537000													8	39					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56840987	56840987	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:56840987G>A	uc003hbi.3	+	10	1559	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	CEP135_uc003hbj.3_Missense_Mutation_p.R148H	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	442					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCACCTTCTCGTTTAGATACA	0.373000													4	38					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33236870	33236870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:33236870G>A	uc003odm.1	-	5	679	c.469C>T	c.(469-471)Cga>Tga	p.R157*	VPS52_uc003odn.1_Nonsense_Mutation_p.R32*|VPS52_uc003odo.1_Nonsense_Mutation_p.R82*|VPS52_uc011dqy.1_Nonsense_Mutation_p.R32*|VPS52_uc011dqz.1_Nonsense_Mutation_p.R32*|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	157					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTTCGAAGTCGAATGTTCATG	0.537000													24	107					0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46638334	46638334	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:46638334A>G	uc002eec.4	-	5	769	c.729T>C	c.(727-729)ctT>ctC	p.L243L		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA.	243										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AGTCAACAATAAGTCCTGATG	0.373000													16	69					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86106421	86106421	+	Silent	SNP	A	A	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:86106421A>C	uc001pbx.2	+	4	1029	c.601A>C	c.(601-603)Agg>Cgg	p.R201R	CCDC81_uc001pbw.2_Silent_p.R111R|CCDC81_uc010rtq.2_5'UTR|CCDC81_uc001pby.2_5'UTR	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	201										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AGAGGCCTTGAGGAAGTGGCC	0.547000													7	40					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483360	26483360	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:26483360G>A	uc003gse.1	-	4	1340	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	396					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CTCTCCCCTCGCCCCTGGGGG	0.627000													17	77					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128488072	128488072	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:128488072C>T	uc003vnz.4	+	25	4739	c.4530C>T	c.(4528-4530)gaC>gaT	p.D1510D	FLNC_uc003voa.4_Silent_p.D1510D	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1510					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						CAGCCACTGACGGGCCCTACA	0.657000													6	9					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53086233	53086233	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:53086233G>A	uc001saw.3	-	6	1428	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	KRT77_uc009zmi.3_Missense_Mutation_p.R225C	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	467	Coil 2.|Rod.					keratin filament	structural molecule activity	p.R467S(2)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGCAGCTGGCGGTAGGTGGCG	0.632000													13	63					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8138396	8138396	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:8138396T>C	uc002gkq.4	-	7	1473	c.1414A>G	c.(1414-1416)Aag>Gag	p.K472E	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	472					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TCCAGGGCCTTGGTAGCCCAC	0.632000													5	63					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49434174	49434174	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49434174C>A	uc001rta.4	-	30	7379	c.7379G>T	c.(7378-7380)cGt>cTt	p.R2460L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2460	Pro-rich.		R -> C.		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						AAATGGGTCACGGGACTGAGG	0.632000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			17	74					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964315	32964315	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:32964315G>A	uc002hif.3	+	9	2347	c.2019G>A	c.(2017-2019)gtG>gtA	p.V673V		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	673						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGGCCACTGTGACCCAGGACC	0.617000													23	128					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52664400	52664400	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:52664400C>T	uc002aby.2	-	20	2982	c.2738G>A	c.(2737-2739)cGc>cAc	p.R913H	MYO5A_uc002abx.3_Missense_Mutation_p.R913H|MYO5A_uc010uge.1_Missense_Mutation_p.R782H	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	913	IQ 6.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTCCACTGAGCGAGCCTCGAT	0.522000													12	35					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50208490	50208490	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:50208490G>A	uc010eng.3	+	9	1215	c.899G>A	c.(898-900)cGc>cAc	p.R300H	CPT1C_uc002ppl.4_Missense_Mutation_p.R266H|CPT1C_uc002ppi.3_Missense_Mutation_p.R217H|CPT1C_uc002ppk.3_Missense_Mutation_p.R289H|CPT1C_uc010enh.3_Missense_Mutation_p.R300H|CPT1C_uc002ppj.3_Missense_Mutation_p.R300H|CPT1C_uc010ybc.1_Missense_Mutation_p.R171H|CPT1C_uc010eni.1_5'Flank	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	300					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATGGGAATGCGCCCCTTATGC	0.587000													20	98					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47407560	47407560	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:47407560G>A	uc002zhu.1	+	7	898	c.796G>A	c.(796-798)Ggc>Agc	p.G266S		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	266	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GGGCGACCCCGGCTTTGAGGT	0.682000													10	62					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24031220	24031220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:24031220G>A	uc001wkl.2	-	16	2021	c.1684C>T	c.(1684-1686)Cag>Tag	p.Q562*	AP1G2_uc001wkk.3_Nonsense_Mutation_p.Q490*|AP1G2_uc001wkn.2_Nonsense_Mutation_p.Q181*|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.	562					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)		ACAGCCCGCTGCTGCAGCTCC	0.602000											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	20					0	0	1	0	0
LHX6	26468	broad.mit.edu	37	9	124975893	124975893	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:124975893T>C	uc004blx.4	-	7	1118	c.1046A>G	c.(1045-1047)tAc>tGc	p.Y349C	LHX6_uc022bmw.1_Missense_Mutation_p.Y133C|LHX6_uc010mvw.3_Missense_Mutation_p.Y320C|LHX6_uc022bmx.1_Missense_Mutation_p.Y338C|LHX6_uc004bly.4_Missense_Mutation_p.Y349C	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	Homo sapiens LIM homeobox 6 (LHX6), transcript variant 1, mRNA.	320					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						ACTCTCAATGTAGCCGTGCAG	0.736000													7	25					0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722740	58722740	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:58722740G>A	uc001nnh.2	+	5	548	c.498G>A	c.(496-498)acG>acA	p.T166T	GLYATL1_uc001nnf.3_Silent_p.T135T|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Silent_p.T135T|GLYATL1_uc001nnj.2_Silent_p.T135T	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	135						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TCTTGGTTACGGAAGATATTC	0.443000													8	67					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52481974	52481974	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:52481974C>T	uc001wzo.3	-	14	3282	c.3048G>A	c.(3046-3048)ccG>ccA	p.P1016P	NID2_uc010tqs.2_Silent_p.P968P|NID2_uc010tqt.1_Silent_p.P1016P|NID2_uc001wzp.3_Silent_p.P1016P	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1016	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CACAGATGGTCGGGGGCCTCT	0.577000													9	47					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56713245	56713245	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56713245C>T	uc001skx.3	-	22	3506	c.3129G>A	c.(3127-3129)tcG>tcA	p.S1043S	PAN2_uc001skw.3_Silent_p.S191S|PAN2_uc001sky.3_Silent_p.S1039S|PAN2_uc001skz.3_Silent_p.S1042S	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	1043	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	p.S1039S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCTTTATACCCGAGTATTGAG	0.443000													10	64					0	0	1	0	0
MSL3P1	151507	broad.mit.edu	37	2	234775651	234775651	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:234775651C>T	uc010znf.2	-	1	429	c.191G>A	c.(190-192)cGt>cAt	p.R64H						Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA.																		GTGATGGTGACGAGGCCTCTC	0.438000													7	35					0	0	1	0	0
HTRA4	203100	broad.mit.edu	37	8	38835668	38835668	+	Splice_Site	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:38835668T>C	uc003xmj.3	+	4	1081	c.966_splice	c.e4+2	p.N322_splice		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	322	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			ACAATTAATGTAAGTCACTTA	0.537000													5	14					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38039124	38039124	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:38039124A>G	uc003chj.3	+	6	998	c.712A>G	c.(712-714)Acg>Gcg	p.T238A	VILL_uc003chk.1_Missense_Mutation_p.T238A|VILL_uc003chl.3_Missense_Mutation_p.T238A|VILL_uc010hgu.3_Missense_Mutation_p.T68A	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	238					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCGTGCCGCCACGCCCAGCAA	0.632000													8	54					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13098266	13098266	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:13098266G>A	uc002wod.1	+	7	1335	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	349					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CCAACCGGCCGGGGTGTCACG	0.498000													8	94					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200968581	200968581	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:200968581C>T	uc001gvs.2	-	12	2098	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q	KIF21B_uc009wzl.2_Missense_Mutation_p.R594Q|KIF21B_uc001gvr.2_Missense_Mutation_p.R594Q|KIF21B_uc010ppn.2_Missense_Mutation_p.R594Q	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	594					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						ACTCTCGTCTCGCTCTTCCTC	0.632000													18	81					0	0	1	0	0
FAM101A	144347	broad.mit.edu	37	12	124798868	124798868	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:124798868C>A	uc021rfy.1	+	4	711	c.205C>A	c.(205-207)Cgc>Agc	p.R69S	FAM101A_uc001ugd.2_Missense_Mutation_p.R69S|FAM101A_uc001uge.2_Missense_Mutation_p.R69S	NM_001204299	NP_001191228	Q6ZTI6	F101A_HUMAN	Homo sapiens protein FAM101A (ZNF664-FAM101A), mRNA.	150										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GCGCAACTACCGCAGCCAGCT	0.642000													15	110					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149915319	149915319	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:149915319T>C	uc003lsk.4	+	5	1811	c.1309T>C	c.(1309-1311)Tac>Cac	p.Y437H	NDST1_uc011dcj.2_Missense_Mutation_p.Y437H|NDST1_uc003lsl.3_Missense_Mutation_p.Y437H	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	437	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGGGCGTGTACCCCGTGCA	0.642000													13	48					0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90894692	90894692	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:90894692A>G	uc003ula.3	+	0	910	c.497A>G	c.(496-498)aAg>aGg	p.K166R		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	166	FZ.				G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GCTGAGCTCAAGTTCTTCCTG	0.657000													25	155					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118487710	118487710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:118487710C>T	uc010jcl.1	+	18	4862	c.4681C>T	c.(4681-4683)Cga>Tga	p.R1561*	DMXL1_uc003ksd.2_Nonsense_Mutation_p.R1561*|DMXL1_uc021ycw.1_Nonsense_Mutation_p.R1388*	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1561										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCCAGCCTATCGAGCTCAACT	0.383000													5	46					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88702895	88702895	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:88702895G>A	uc001kea.3	-	5	1773	c.1646C>T	c.(1645-1647)gCg>gTg	p.A549V	MMRN2_uc010qmn.2_Missense_Mutation_p.A192V|MMRN2_uc009xtb.2_Missense_Mutation_p.A506V	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	549						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGCTTTGTGCGCGTCCACGGC	0.751000													3	7					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558764	113558764	+	Silent	SNP	C	C	T	rs111896635	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:113558764C>T	uc010ljy.1	-	0	319	c.288G>A	c.(286-288)acG>acA	p.T96T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	96					glycogen metabolic process	integral to membrane		p.T96K(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GGAAAATGTCCGTCCCTAAGT	0.383000													11	55					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50994313	50994313	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:50994313G>A	uc002lfe.2	+	24	4285	c.3669G>A	c.(3667-3669)tcG>tcA	p.S1223S	DCC_uc010dpf.2_Silent_p.S858S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1223					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGAGAGGTCGCTGGCTGCAC	0.522000													16	61					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167868736	167868736	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:167868736C>T	uc003lzu.3	+	15	2423	c.2330C>T	c.(2329-2331)tCg>tTg	p.S777L	WWC1_uc003lzv.3_Missense_Mutation_p.S777L|WWC1_uc011den.2_Missense_Mutation_p.S777L|WWC1_uc003lzw.3_Missense_Mutation_p.S576L|WWC1_uc010jjf.1_Missense_Mutation_p.S44L	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	777	C2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGGGAGAGGTCGACTCGCTGG	0.607000													7	47					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75053837	75053837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:75053837C>T	uc003udk.4	-	10	1728	c.843G>A	c.(841-843)tgG>tgA	p.W281*		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	523	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CCTGGTTGAACCACTGTAATG	0.468000													10	92					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23543822	23543822	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:23543822A>G	uc002nre.3	-	3	2072	c.1959T>C	c.(1957-1959)acT>acC	p.T653T	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Silent_p.T621T	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	653						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GTTTCTCTCCAGTATGAATTC	0.383000													7	35					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58022927	58022927	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:58022927G>A	uc001spg.1	-	6	1147	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	B4GALNT1_uc010sru.2_Missense_Mutation_p.R184W|B4GALNT1_uc010srv.2_Intron	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	239					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.R239W(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTGGAGAACCGGACTGGGAAG	0.532000													5	18					0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145535421	145535421	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145535421C>T	uc003zbt.4	+	7	929	c.759C>T	c.(757-759)taC>taT	p.Y253Y	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	253	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCAGCCTCTACGCCCCTGATG	0.672000													5	45					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12187198	12187198	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:12187198G>A	uc003bwm.3	+	6	699	c.535G>A	c.(535-537)Gtg>Atg	p.V179M	SYN2_uc003bwl.1_Missense_Mutation_p.V179M	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	183					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GCCAGACTTCGTGCTCATCCG	0.527000													7	30					0	0	1	0	0
EME2	197342	broad.mit.edu	37	16	1826215	1826215	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:1826215T>A	uc002cmq.1	+	7	1311	c.1311T>A	c.(1309-1311)gaT>gaA	p.D437E	EME2_uc010brw.1_Missense_Mutation_p.D372E	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 2 (S. pombe) (EME2), mRNA.	372					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CCAACCCTGATCTCCTGCTGG	0.692000								Direct reversal of damage;Homologous recombination					19	107					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145051834	145051834	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145051834G>A	uc003zal.4	-	10	3004	c.2896C>T	c.(2896-2898)Cgg>Tgg	p.R966W	PLEC_uc003zaj.2_5'Flank|PARP10_uc003zak.4_Missense_Mutation_p.R663W|PARP10_uc011lku.2_Missense_Mutation_p.R978W|PARP10_uc011lkv.2_Non-coding_Transcript	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA.	966	PARP catalytic.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	p.R966W(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGACCCCGCAGAGGGGGC	0.706000													3	12					0	0	1	0	0
WIBG	84305	broad.mit.edu	37	12	56297223	56297223	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56297223G>A	uc001sif.1	-	1	231	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	WIBG_uc001sie.1_Missense_Mutation_p.R26C	NM_032345	NP_115721	Q9BRP8	WIBG_HUMAN	Homo sapiens within bgcn homolog (Drosophila) (WIBG), transcript variant 1, mRNA.	27	Required for interaction with MAGOH and RBM8A.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	RNA binding|protein binding|ribosome binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGCTGCTTGCGCCAGGTCCCG	0.468000													9	55					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3750452	3750452	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:3750452G>A	uc001aky.2	-	11	1992	c.1633C>T	c.(1633-1635)Cgc>Tgc	p.R545C	CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Missense_Mutation_p.R545C	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	545						centriole	binding	p.R545C(2)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCTGTGACGCGGAGGCGGGCA	0.443000													5	53					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61924008	61924008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:61924008C>T	uc001xfn.3	+	7	1380	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	PRKCH_uc010tsa.2_Nonsense_Mutation_p.R198*	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	359	Protein kinase.		R -> Q (in dbSNP:rs55818778).		intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGAGTTCATCCGAGTGTTGGG	0.488000													13	65					0	0	1	0	0
SNX1	6642	broad.mit.edu	37	15	64418402	64418402	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:64418402C>T	uc002amv.3	+	5	765	c.635C>T	c.(634-636)cCg>cTg	p.P212L	SNX1_uc010bgv.3_5'UTR|SNX1_uc010uio.2_Missense_Mutation_p.P212L|SNX1_uc002amx.3_Missense_Mutation_p.P147L|SNX1_uc010bgw.3_Missense_Mutation_p.P114L	NM_003099	NP_003090	Q13596	SNX1_HUMAN	Homo sapiens sorting nexin 1 (SNX1), transcript variant 1, mRNA.	212	PX.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	Golgi apparatus|early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CCTCCGCCCCCGGAGAAGAGC	0.433000													6	25					0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349894	103349894	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:103349894G>A	uc022cbz.1	-	0	47	c.47C>T	c.(46-48)aCg>aTg	p.T16M	SLC25A53_uc004elu.3_Missense_Mutation_p.T16M	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	16					transport	integral to membrane|mitochondrial inner membrane		p.T16M(1)									CTCTGCTCGCGTCCTGTGCTG	0.522000													6	16					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821330	5821330	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:5821330G>A	uc010ndi.3	-	5	1964	c.1500C>T	c.(1498-1500)taC>taT	p.Y500Y	NLGN4X_uc004crp.3_Silent_p.Y483Y|NLGN4X_uc010ndh.3_Silent_p.Y463Y|NLGN4X_uc004crq.3_Silent_p.Y463Y|NLGN4X_uc004crr.3_Silent_p.Y463Y|NLGN4X_uc010ndj.3_Silent_p.Y463Y	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	463					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGGGGAGCCGTACTGCGCGT	0.612000													7	17					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32667453	32667453	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:32667453C>T	uc010ezu.3	+	18	4302	c.4168C>T	c.(4168-4170)Cgt>Tgt	p.R1390C		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1390					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGACATCGTACGTGTTTGCTT	0.398000													3	7					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315489	30315489	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:30315489C>T	uc009xle.2	-	2	3725	c.3588G>A	c.(3586-3588)ttG>ttA	p.L1196L	KIAA1462_uc001iux.3_Silent_p.L1196L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.L1058L	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1196										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						ACTTGGACTCCAAGGGGCTGG	0.547000													28	139					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61305232	61305232	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:61305232C>T	uc002ljf.3	-	7	980	c.894G>A	c.(892-894)acG>acA	p.T298T	SERPINB3_uc002lje.3_Silent_p.T277T|SERPINB3_uc002ljg.3_Silent_p.T298T	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	298					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.T298M(1)|p.D297N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGGTTCTCAACGTGTCCTTGA	0.453000													7	56					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951365	235951365	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:235951365G>A	uc002vvp.3	+	3	2345	c.1952G>A	c.(1951-1953)cGc>cAc	p.R651H	SH3BP4_uc010fym.3_Missense_Mutation_p.R651H|SH3BP4_uc002vvq.3_Missense_Mutation_p.R651H	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	651					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTCCAGGACCGCCCGGTGTCC	0.547000													11	70					0	0	1	0	0
MUTYH	4595	broad.mit.edu	37	1	45796900	45796900	+	Missense_Mutation	SNP	G	G	A	rs138353003		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:45796900G>A	uc001cnm.3	-	13	1637	c.1421C>T	c.(1420-1422)aCg>aTg	p.T474M	MUTYH_uc001cnf.3_Missense_Mutation_p.T449M|MUTYH_uc009vxo.3_Missense_Mutation_p.T449M|MUTYH_uc001cng.3_Missense_Mutation_p.T460M|MUTYH_uc001cnj.3_Missense_Mutation_p.T357M|MUTYH_uc001cni.3_Missense_Mutation_p.T449M|MUTYH_uc001cnh.3_Missense_Mutation_p.T450M|MUTYH_uc001cnl.3_Missense_Mutation_p.T463M|MUTYH_uc009vxp.3_Missense_Mutation_p.T477M|MUTYH_uc001cnn.3_Missense_Mutation_p.T464M|MUTYH_uc001cno.3_Missense_Mutation_p.T357M|MUTYH_uc010oll.2_Missense_Mutation_p.T158M	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.	474	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|MutSalpha complex binding|endonuclease activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TTCCTCCTGCGTCAGCCAGCG	0.507000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				13	62					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16532526	16532526	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16532526C>T	uc001ayc.1	-	7	1488	c.1351G>A	c.(1351-1353)Gtg>Atg	p.V451M	ARHGEF19_uc009voo.1_5'UTR	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	451	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTCGCACACGCTGAAGCGC	0.647000													4	3					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869697	151869697	+	Silent	SNP	G	G	A	rs144510184		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:151869697G>A	uc022chf.1	+	0	387	c.387G>A	c.(385-387)ccG>ccA	p.P129P	MAGEA6_uc004ffq.1_Silent_p.P129P|MAGEA6_uc004ffr.1_Silent_p.P129P	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	129	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGGAGCCGGTCACAAAGG	0.522000													21	140					0	0	1	0	0
TMEM201	199953	broad.mit.edu	37	1	9662288	9662288	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:9662288C>T	uc021ofy.1	+	5	1175	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	TMEM201_uc001apy.3_Missense_Mutation_p.A373V|TMEM201_uc021ofz.1_Missense_Mutation_p.A214V	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	Homo sapiens transmembrane protein 201 (TMEM201), transcript variant 1, mRNA.	373						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GCGGCTGTGGCCACAAGGAAG	0.647000													5	34					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110738255	110738255	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:110738255C>T	uc009wfq.3	+	9	2001	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	514					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.F511_R514del(2)|p.R514C(2)|p.R514R(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTTCGTCCAGCGCTCCGGAAA	0.582000													8	52					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4910928	4910928	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:4910928C>T	uc002cyb.3	+	6	1274	c.935C>T	c.(934-936)aCg>aTg	p.T312M	UBN1_uc010uxw.2_Missense_Mutation_p.T312M|UBN1_uc002cyc.3_Missense_Mutation_p.T312M	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	312					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GACTCGCTGACGGATTTGGAC	0.562000													13	60					0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22694893	22694893	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:22694893C>T	uc010ajp.1	+	1	129	c.84C>T	c.(82-84)agC>agT	p.S28S	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc021rpw.1_Non-coding_Transcript					SubName: Full=HADV36S1; Flags: Fragment;																		TGGTACAAAGCCCTCTATCTC	0.453000													7	50					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5743014	5743014	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:5743014G>A	uc003zjl.4	+	9	1237	c.1046_splice	c.e9+1	p.A349_splice	KIAA1432_uc003zjh.3_Splice_Site_p.A270_splice|KIAA1432_uc003zji.3_Splice_Site_p.A270_splice|KIAA1432_uc003zjj.1_Splice_Site	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	349						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GAGATTTTGCGTAAGTCAAAA	0.373000													7	24					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603650	13603650	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:13603650T>A	uc003gmz.1	-	9	4991	c.4874A>T	c.(4873-4875)gAc>gTc	p.D1625V	BOD1L1_uc010idr.1_Missense_Mutation_p.D962V	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1625							DNA binding										TGCTGCTCTGTCCTCAGATTC	0.502000													12	83					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401347	77401347	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:77401347G>A	uc002ffc.4	-	3	1188	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	257					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CATTTCTTGCGTCGTCCACAA	0.443000													7	43					0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72455746	72455746	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:72455746C>T	uc002atq.3	-	9	841	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	GRAMD2_uc010bis.2_Missense_Mutation_p.A273T|GRAMD2_uc010ukh.2_Missense_Mutation_p.A67T	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	273						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTAGGGCAGGCAGGACCCCAG	0.532000													5	81					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41813295	41813295	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:41813295G>A	uc001zod.3	-	21	3213	c.3089C>T	c.(3088-3090)tCg>tTg	p.S1030L		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	1030	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTTCCTAACGACAGCTGGTC	0.587000													11	67					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:29910693A>G	uc003nol.3	+	1	317	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Missense_Mutation_p.Q78R|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Silent_p.A121A|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.2_5'UTR|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity	p.Q78R(4)|p.Q78*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	28					0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17418973	17418973	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:17418973G>A	uc001baf.3	-	5	667	c.585C>T	c.(583-585)ccC>ccT	p.P195P	PADI2_uc010ocm.2_Intron|PADI2_uc001bag.1_Silent_p.P195P	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	195					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.P195Q(2)		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)	CGTATCCGGCGGGGAGGCGGT	0.537000													9	44					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93708993	93708993	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:93708993A>G	uc001ybo.3	-	10	3351	c.3025T>C	c.(3025-3027)Tat>Cat	p.Y1009H	BTBD7_uc010aur.3_Missense_Mutation_p.Y534H|BTBD7_uc010two.2_Missense_Mutation_p.Y829H|BTBD7_uc001ybp.3_Missense_Mutation_p.Y658H	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	1009										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GAAAGTGGATATTCTCTCCTA	0.498000													19	92					0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65553837	65553837	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:65553837C>T	uc003tup.3	+	9	997	c.762C>T	c.(760-762)agC>agT	p.S254S	ASL_uc003tuo.3_Silent_p.S254S|ASL_uc003tur.3_Silent_p.S228S|ASL_uc003tuq.3_Silent_p.S254S	NM_001024943	NP_001020114	P04424	ARLY_HUMAN	Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	254					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCCATCTCAGCAGGATGGCCG	0.582000													9	24					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84104352	84104352	+	Silent	SNP	G	G	A	rs141003439		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:84104352G>A	uc002fhi.3	-	12	2125	c.1623C>T	c.(1621-1623)aaC>aaT	p.N541N	MBTPS1_uc002fhh.3_Silent_p.N45N	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	541					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTTGTCTCCGTTCTGTGGCA	0.493000													13	53					0	0	1	0	0
NOXO1	124056	broad.mit.edu	37	16	2030958	2030958	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:2030958G>A	uc002cnx.3	-	1	389	c.129C>T	c.(127-129)gaC>gaT	p.D43D	TCRBV20S1_uc021tak.1_Intron|NOXO1_uc002cny.3_Silent_p.D43D|NOXO1_uc002cnz.3_Silent_p.D43D|NOXO1_uc002coa.3_Silent_p.D43D	NM_172168	NP_751908	Q8NFA2	NOXO1_HUMAN	Homo sapiens NADPH oxidase organizer 1 (NOXO1), transcript variant c, mRNA.	43	PX.				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity			lung(2)	2						GCCTGAATTCGTCCCAACTCC	0.642000													12	36					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3180260	3180260	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:3180260G>A	uc009xhv.2	-	26	3149	c.3080C>T	c.(3079-3081)cCg>cTg	p.P1027L	PITRM1_uc001igr.2_3'UTR|PITRM1_uc001igt.2_Missense_Mutation_p.P1026L|PITRM1_uc010qah.2_Missense_Mutation_p.P928L	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	928					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GGCAATTTTCGGGTTCTCGGG	0.582000													4	18					0	0	1	0	0
CLDN15	24146	broad.mit.edu	37	7	100880655	100880655	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:100880655C>T	uc003uyg.2	-	0	573	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	CLDN15_uc003uyh.2_Missense_Mutation_p.A70T|CLDN15_uc003uyi.3_Missense_Mutation_p.A70T|CLDN15_uc022aja.1_Missense_Mutation_p.A70T	NM_014343	NP_001172009	P56746	CLD15_HUMAN	Homo sapiens claudin 15 (CLDN15), transcript variant 2, mRNA.	70					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CCAGAGAGGGCCAGCATGGAC	0.637000													3	16					0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151234660	151234660	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:151234660G>A	uc001exl.3	+	1	112	c.50G>A	c.(49-51)cGg>cAg	p.R17Q		NM_002810	NP_002801	P55036	PSMD4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4), mRNA.	17	VWFA.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|viral reproduction	proteasome complex	protein binding|zinc ion binding	p.M16I(1)		breast(2)|endometrium(1)|kidney(1)|lung(7)	11	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)			GAGTATATGCGGAATGGAGAC	0.493000													12	66					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47799780	47799780	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:47799780G>A	uc002lem.4	-	12	1945	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	MBD1_uc002lef.3_Intron|MBD1_uc002leg.3_Missense_Mutation_p.A453V|MBD1_uc010dow.2_Missense_Mutation_p.A503V|MBD1_uc010xdi.2_Missense_Mutation_p.A554V|MBD1_uc010xdj.2_Intron|MBD1_uc002lel.4_Intron|MBD1_uc002len.3_Intron|MBD1_uc002leh.4_Missense_Mutation_p.A447V|MBD1_uc002lei.4_Missense_Mutation_p.A503V|MBD1_uc002lej.4_Intron|MBD1_uc002lek.4_Missense_Mutation_p.A454V|MBD1_uc021ukd.1_Missense_Mutation_p.A527V|MBD1_uc021uke.1_Missense_Mutation_p.A472V|MBD1_uc010xdk.2_Missense_Mutation_p.A528V|MBD1_uc010dox.1_Intron|MBD1_uc002leo.2_Intron	NM_001204136	NP_001191065	Q9UIS9	MBD1_HUMAN	Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 6, mRNA.	503					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTGGGTATCCGCCTTCTCTTG	0.602000													11	50					0	0	1	0	0
LRRC10	376132	broad.mit.edu	37	12	70004150	70004150	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:70004150G>A	uc001svc.3	-	0	793	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA.	157						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGCAGCAAACGCAGGGCGTTG	0.627000													8	42					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22390048	22390048	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:22390048C>T	uc003gqm.1	-	18	3511	c.3246G>A	c.(3244-3246)acG>acA	p.T1082T	GPR125_uc010ieo.1_Silent_p.T938T|GPR125_uc003gql.1_Silent_p.T209T	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	1082					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCTCTCCATTCGTCCCATTAG	0.502000													5	30					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13423524	13423524	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:13423524G>A	uc002mwy.3	-	11	1863	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W	CACNA1A_uc010dzc.2_Missense_Mutation_p.R69W|CACNA1A_uc010xnd.2_Missense_Mutation_p.R543W|CACNA1A_uc021ups.1_Missense_Mutation_p.R543W|CACNA1A_uc010xne.2_Missense_Mutation_p.R543W|CACNA1A_uc010dze.2_Missense_Mutation_p.R543W|CACNA1A_uc021upt.1_Missense_Mutation_p.R544W	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	544					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.T543M(1)		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)	AAGTAAGGCCGCGTCCCAAGC	0.438000													9	45					0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54466610	54466610	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:54466610G>A	uc002qcs.2	+	0	321	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA.	72					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGGGGGCGGCGGCGCCTCGGA	0.726000													4	21					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634985	70634985	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:70634985G>A	uc001xly.3	-	1	909	c.155C>T	c.(154-156)tCg>tTg	p.S52L	SLC8A3_uc001xlw.3_Missense_Mutation_p.S52L|SLC8A3_uc001xlx.3_Missense_Mutation_p.S52L|SLC8A3_uc001xlz.3_Missense_Mutation_p.S52L|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	52					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTTGCAGTCCGATGACCCTGA	0.547000													6	34					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5139772	5139772	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:5139772G>A	uc010qaq.1	+	2	468	c.399G>A	c.(397-399)gcG>gcA	p.A133A	AKR1C3_uc001ihr.3_Intron|AKR1C3_uc021pml.1_Intron|AKR1C3_uc010qap.2_Intron|AKR1C3_uc001ihu.3_Intron	NM_001253909	NP_001240838	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 3, mRNA.	0					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)	ATAAAATTGCGCTTCTGCTGT	0.363000													4	31					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160080827	160080827	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:160080827C>T	uc002uag.3	+	22	4037	c.3763C>T	c.(3763-3765)Cgg>Tgg	p.R1255W	TANC1_uc010zcm.2_Missense_Mutation_p.R1247W|TANC1_uc010fom.1_Missense_Mutation_p.R1061W|TANC1_uc010fon.3_Missense_Mutation_p.R99W	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1255						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CATCGGCTGCCGGAACACATC	0.597000													4	51					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154147110	154147110	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:154147110C>T	uc003faa.3	-	0	395	c.295G>A	c.(295-297)Ggt>Agt	p.G99S		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	99						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGGAAGTAACCGGGGACCTCG	0.488000													21	77					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18657652	18657652	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:18657652T>C	uc003zne.4	+	7	1002	c.850T>C	c.(850-852)Tcc>Ccc	p.S284P	ADAMTSL1_uc003znb.3_Missense_Mutation_p.S284P|ADAMTSL1_uc003znc.4_Missense_Mutation_p.S284P	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	284						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TAACTCGGGCTCCGCTGACAG	0.493000													7	22					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151109506	151109506	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:151109506G>A	uc001ewv.3	-	10	1137	c.801C>T	c.(799-801)ggC>ggT	p.G267G	SEMA6C_uc001ewu.3_Silent_p.G267G|SEMA6C_uc001eww.3_Silent_p.G227G|SEMA6C_uc009wml.2_Non-coding_Transcript	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	267	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGGCGAGCCGCCCATGTCAC	0.567000													18	113					0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034682	150034682	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:150034682G>A	uc003wgz.4	+	0	732	c.732G>A	c.(730-732)gcG>gcA	p.A244A	LRRC61_uc003wgv.3_Silent_p.A244A|LRRC61_uc003wgx.3_Silent_p.A244A|LRRC61_uc003wgw.3_Silent_p.A244A	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	Homo sapiens leucine rich repeat containing 61 (LRRC61), transcript variant 2, mRNA.	244										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TGGCCCAGGCGGAGCAGGTAC	0.677000													4	32					0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103335662	103335662	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:103335662G>A	uc002tcb.2	-	5	710	c.642C>T	c.(640-642)ctC>ctT	p.L214L	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Silent_p.L153L	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	214					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGAACCAAACGAGACCTGTTA	0.483000													13	80					0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	107448	107448	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrGL000209.1:107448C>T	uc021vdb.1	+	4	719	c.708C>T	c.(706-708)tcC>tcT	p.S236S	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Silent_p.S236S	NM_014513	NP_055328	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 (KIR2DS5), mRNA.	236					regulation of immune response	integral to membrane|plasma membrane	receptor activity										AACCAAGCTCCGAAACCGGTG	0.502000													13	53					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3728407	3728407	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:3728407G>A	uc010xhv.2	+	0	34	c.34G>A	c.(34-36)Gct>Act	p.A12T	TJP3_uc010xhs.2_Intron|TJP3_uc010xht.2_Intron|TJP3_uc010xhu.2_Intron|TJP3_uc010xhw.2_Missense_Mutation_p.A12T	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	0	PDZ 1.					tight junction	protein binding	p.A12T(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCTTCCCCGCTCCCCTCGA	0.632000													8	20					0	0	1	0	0
CCDC78	124093	broad.mit.edu	37	16	775122	775122	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:775122C>T	uc002cjg.3	-	5	622	c.516G>A	c.(514-516)gcG>gcA	p.A172A	CCDC78_uc002cjh.3_5'UTR|CCDC78_uc002cji.3_Missense_Mutation_p.A277T|CCDC78_uc002cjj.3_Missense_Mutation_p.A147T|CCDC78_uc010uuo.1_Missense_Mutation_p.A203T|CCDC78_uc002cjk.2_Missense_Mutation_p.A192T|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	Homo sapiens coiled-coil domain containing 78 (CCDC78), mRNA.	172										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GATGCTCCAGCGCCCACTTCA	0.652000													14	75					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135790919	135790919	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:135790919C>T	uc004fab.3	-	7	1300	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	ARHGEF6_uc011mwd.2_Missense_Mutation_p.V153M|ARHGEF6_uc011mwe.2_Missense_Mutation_p.V126M	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	280	DH.				JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GTAACCTCCACAGTACTCAGA	0.358000													6	13					0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579134	49579134	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49579134G>A	uc009zlf.3	-	3	1287	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C	TUBA1A_uc001rtp.3_Missense_Mutation_p.R339C	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	Homo sapiens tubulin, alpha 1a (TUBA1A), mRNA.	339					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TGGATGGTACGCTTGGTCTTG	0.547000													11	74					0	0	1	0	0
C9orf89	84270	broad.mit.edu	37	9	95869990	95869990	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:95869990G>A	uc004atd.3	+	1	220	c.42G>A	c.(40-42)acG>acA	p.T14T	C9orf89_uc004atf.3_Non-coding_Transcript	NM_032310	NP_115686	Q96LW7	BINCA_HUMAN	Homo sapiens chromosome 9 open reading frame 89 (C9orf89), mRNA.	14	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TGCAGGACACGCCTTTCCTGA	0.562000													5	27					0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189592	11189592	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:11189592G>A	uc003wtp.1	+	0	1098	c.977G>A	c.(976-978)cGg>cAg	p.R326Q		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	326						integral to membrane		p.R326Q(1)									ATTACAGCCCGGAACCTCAGC	0.527000													5	63					0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	141011689	141011689	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:141011689G>A	uc003etu.3	+	7	1384	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	ACPL2_uc003etv.3_Missense_Mutation_p.R362H|ACPL2_uc011bna.2_Missense_Mutation_p.R324H|ACPL2_uc011bnb.2_Missense_Mutation_p.R345H	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	362						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CGGATGCAGCGTGCCACCGAG	0.547000													15	77					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66946460	66946460	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:66946460C>T	uc002eql.3	-	10	1500	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	CDH16_uc010cdy.3_Missense_Mutation_p.E436K|CDH16_uc021tjx.1_Missense_Mutation_p.E436K|CDH16_uc002eqm.3_Missense_Mutation_p.E339K	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	436	Cadherin 4.				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)		ACTGCGACTTCGACTTCACAC	0.592000													14	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588313	179588313	+	Silent	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:179588313T>G	uc021vsy.1	-	70	18007	c.17782A>C	c.(17782-17784)Aga>Cga	p.R5928R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.R2589R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6855	Ig-like 40.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGCACCTCTGAACCAGTTG	0.413000													3	18					0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90744735	90744735	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:90744735G>A	uc011lti.2	-	3	3246	c.3217C>T	c.(3217-3219)Cgc>Tgc	p.R1073C	DQ587746_uc004apx.1_5'Flank	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	1073																	GAGGCATGGCGCGCATGGCAA	0.517000													16	97					0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180235547	180235547	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:180235547C>T	uc001goe.2	+	2	501	c.269C>T	c.(268-270)aCg>aTg	p.T90M		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	Homo sapiens LIM homeobox 4 (LHX4), mRNA.	90	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						ACAAAATGCACGGCCTGCCAG	0.612000													9	73					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56575860	56575860	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56575860G>A	uc001skb.3	-	7	742	c.636C>T	c.(634-636)taC>taT	p.Y212Y	SMARCC2_uc001skd.3_Silent_p.Y212Y|SMARCC2_uc001ska.3_Silent_p.Y212Y|SMARCC2_uc001skc.3_Silent_p.Y212Y|SMARCC2_uc010sqf.2_Silent_p.Y101Y	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.	212					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)			TCCACGTGTCGTAACTGCCAT	0.438000													5	30					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51013172	51013172	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:51013172G>A	uc002lfe.2	+	25	4358	c.3742G>A	c.(3742-3744)Gtg>Atg	p.V1248M	DCC_uc010dpf.2_Missense_Mutation_p.V883M	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1248					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.V1248M(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCAGCTGTCGTGAGCGCCAT	0.488000													15	55					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23712400	23712400	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:23712400G>A	uc002dma.4	-	11	1552	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	ERN2_uc010bxp.3_Intron|ERN2_uc010bxq.1_Silent_p.S269S	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	413					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GATGCAGCTCGGAGTCCCAAA	0.552000													13	57					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118986872	118986872	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:118986872G>A	uc001pvn.3	+	13	2389	c.2030G>A	c.(2029-2031)cGa>cAa	p.R677Q	C2CD2L_uc001pvo.3_Missense_Mutation_p.R676Q	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	676						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCCAGTGTCCGAAAGAAGGCC	0.592000													14	40					0	0	1	0	0
AURKB	9212	broad.mit.edu	37	17	8108653	8108653	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:8108653G>A	uc002gkn.3	-	7	806	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	AURKB_uc021tpy.1_Missense_Mutation_p.R216C|AURKB_uc010cnu.3_Missense_Mutation_p.R68C|AURKB_uc002gkm.3_Missense_Mutation_p.R248C|AURKB_uc010vuu.2_Missense_Mutation_p.R207C|AURKB_uc002gko.3_Non-coding_Transcript	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	Homo sapiens aurora kinase B (AURKB), mRNA.	248	Protein kinase.			MH -> ID (in Ref. 3; BAA82709).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						TTGTGCATGCGCCCCTCAATC	0.567000													18	72					0	0	1	0	0
PHYHIPL	84457	broad.mit.edu	37	10	60994140	60994140	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:60994140A>G	uc001jkk.4	+	1	449	c.183A>G	c.(181-183)atA>atG	p.I61M	PHYHIPL_uc001jkl.4_Missense_Mutation_p.I15M|PHYHIPL_uc001jkm.4_Missense_Mutation_p.I35M	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein-like (PHYHIPL), transcript variant 1, mRNA.	61	Fibronectin type-III.							p.N60S(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						TAAGCAATATAACGTGTGACT	0.368000													4	24					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65143972	65143972	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:65143972G>A	uc001dbo.1	+	22	3175	c.3070G>A	c.(3070-3072)Gtt>Att	p.V1024I	CACHD1_uc001dbp.1_Missense_Mutation_p.V779I|CACHD1_uc001dbq.1_Missense_Mutation_p.V779I|CACHD1_uc010opa.1_Missense_Mutation_p.V268I	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	1075					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AAGTCCCTACGTTGATGACAT	0.448000													5	25					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910582	101910582	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:101910582G>A	uc010nod.3	+	2	2383	c.1741G>A	c.(1741-1743)Ggg>Agg	p.G581R	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.G581R|GPRASP1_uc004ejj.4_Missense_Mutation_p.G581R|GPRASP1_uc004eji.4_Missense_Mutation_p.G581R|GPRASP1_uc022cbd.1_Missense_Mutation_p.G581R	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	581	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GACAATATTCGGGTCCTGGTT	0.507000													24	52					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15175097	15175097	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:15175097C>T	uc003zlr.2	-	18	1915	c.1878G>A	c.(1876-1878)ccG>ccA	p.P626P	TTC39B_uc003zlq.2_Silent_p.P529P|TTC39B_uc011lmp.2_Silent_p.P461P|TTC39B_uc010mie.2_Silent_p.P624P|TTC39B_uc011lmr.2_Silent_p.P557P|TTC39B_uc011lmq.2_Silent_p.P613P|TTC39B_uc003zlp.2_Silent_p.P143P	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	560							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						ATAGAGTGAACGGCACTAGGT	0.373000													10	43					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20021006	20021006	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:20021006G>A	uc001bcn.3	-	14	1663	c.1421C>T	c.(1420-1422)tCg>tTg	p.S474L	TMCO4_uc001bco.1_Missense_Mutation_p.S474L|TMCO4_uc001bcp.1_Missense_Mutation_p.S434L	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	474						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GAGCTGCACCGAGGATGTGCG	0.617000													30	120					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433639	40433639	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:40433639C>T	uc002omp.4	-	1	638	c.630G>A	c.(628-630)tcG>tcA	p.S210S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	210	IgGFc-binding.					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)			CCTTTGACCCCGAGAGATCCA	0.547000													7	78					0	0	1	0	0
NASP	4678	broad.mit.edu	37	1	46073732	46073732	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:46073732G>A	uc001coi.2	+	5	1308	c.1149G>A	c.(1147-1149)ccG>ccA	p.P383P	NASP_uc010olq.2_Silent_p.P346P|NASP_uc021omz.1_Silent_p.P385P|NASP_uc001coj.2_Intron|NASP_uc010olr.2_Silent_p.P319P|NASP_uc001cok.2_Silent_p.P266P	NM_002482	NP_002473	P49321	NASP_HUMAN	Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA.	383	Glu-rich (acidic).				DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					TCAATGGACCGTCAGTTGTAG	0.507000													18	133					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96963422	96963422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:96963422G>A	uc002svu.3	-	9	1288	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	386						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTGTCCATTCGAGACTGACGC	0.463000													6	51					0	0	1	0	0
IGBP1	3476	broad.mit.edu	37	X	69370144	69370144	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:69370144G>A	uc004dxv.3	+	4	1342	c.843G>A	c.(841-843)ccG>ccA	p.P281P	IGBP1_uc004dxw.3_Silent_p.P281P	NM_001551	NP_001542	P78318	IGBP1_HUMAN	Homo sapiens immunoglobulin (CD79A) binding protein 1 (IGBP1), mRNA.	281					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						GAGCATTACCGGATCAGGGAA	0.463000													7	3					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370883	240370883	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:240370883C>T	uc010pye.2	+	5	3008	c.2783C>T	c.(2782-2784)cCg>cTg	p.P928L	FMN2_uc010pyd.2_Missense_Mutation_p.P924L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	924	FH1.|Pro-rich.				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)			CCTCCTCCGCCGCCTCTACCC	0.677000													27	73					0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100123403	100123403	+	Silent	SNP	C	C	T	rs140994822		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:100123403C>T	uc010avs.3	+	2	1034	c.969C>T	c.(967-969)gaC>gaT	p.D323D	HHIPL1_uc001ygl.1_Silent_p.D323D	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	323					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCGGGGATGACGGGTACCTCT	0.512000													56	315					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78363706	78363706	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:78363706C>T	uc002jyh.2	+	66	15564	c.15421C>T	c.(15421-15423)Cgg>Tgg	p.R5141W	RNF213_uc021uen.1_Missense_Mutation_p.R5092W|LOC100294362_uc002jyi.2_Intron|RNF213_uc010dhx.2_Missense_Mutation_p.R109W	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)			ACAGCTGCTGCGGCTGCACAA	0.507000													7	60					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40653340	40653340	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:40653340C>T	uc001rmg.4	+	12	1598	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	LRRK2_uc001rmh.1_Missense_Mutation_p.R115C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	493					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	p.R493H(1)		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)				AGTTATGAAACGTCATGAGAC	0.413000													5	49					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5274309	5274309	+	Silent	SNP	C	C	T	rs140383630		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:5274309C>T	uc002mbv.3	-	2	372	c.138G>A	c.(136-138)tcG>tcA	p.S46S	PTPRS_uc002mbu.1_Silent_p.S46S|PTPRS_uc010xin.2_Silent_p.S46S|PTPRS_uc002mbw.3_Silent_p.S46S|PTPRS_uc002mbx.3_Silent_p.S46S|PTPRS_uc002mby.3_Silent_p.S46S|PTPRS_uc002mbz.1_Silent_p.S46S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	46	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S46L(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCACACCCCCCGACACGCCGA	0.597000													12	37					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117582	117582	+	RNA	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrGL000205.1:117582C>T	uc002kgk.4	+	0		c.960C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAGAGACAGCCGACTCCACCA	0.612000													3	10					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11630114	11630114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:11630114G>A	uc021zzo.1	-	3	1678	c.1426C>T	c.(1426-1428)Caa>Taa	p.Q476*	THSD7A_uc021zzn.1_Nonsense_Mutation_p.Q476*	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	476	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTACTTAATTGTGAGAGGAGG	0.507000										HNSCC(18;0.044)			7	36					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049673	69049673	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:69049673A>G	uc010fdg.3	+	9	1821	c.1402A>G	c.(1402-1404)Aat>Gat	p.N468D	ARHGAP25_uc010yql.2_Missense_Mutation_p.N428D|ARHGAP25_uc002sew.3_Missense_Mutation_p.N460D|ARHGAP25_uc002sex.3_Missense_Mutation_p.N461D	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	467					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S468L(1)|p.S468*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GATCTTTAAAAATGAATTCTG	0.473000													18	73					0	0	1	0	0
GGA1	26088	broad.mit.edu	37	22	38028044	38028044	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:38028044C>T	uc003atc.3	+	14	1957	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	GGA1_uc003ate.3_Missense_Mutation_p.R520C|GGA1_uc003atd.3_Missense_Mutation_p.R437C|GGA1_uc003atf.3_Missense_Mutation_p.R451C|SH3BP1_uc003atg.1_5'Flank	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	524	GAE.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus part|clathrin adaptor complex|endosome membrane	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GCACGGCTTCCGCATCCTCTT	0.647000													10	54					0	0	1	0	0
SWAP70	23075	broad.mit.edu	37	11	9746375	9746375	+	Silent	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:9746375T>G	uc001mhw.3	+	3	684	c.585T>G	c.(583-585)acT>acG	p.T195T	SWAP70_uc001mhv.3_Silent_p.T195T|SWAP70_uc001mhx.3_Silent_p.T137T	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	Homo sapiens SWAP switching B-cell complex 70kDa subunit (SWAP70), mRNA.	195						cytoplasm|lamellipodium|nucleus|plasma membrane	DNA binding|calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ACCGGCAGACTGTGTCTATGG	0.333000													16	52					0	0	1	0	0
C6orf70	55780	broad.mit.edu	37	6	170159960	170159960	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:170159960C>T	uc003qxg.1	+	6	665	c.632C>T	c.(631-633)aCg>aTg	p.T211M	C6orf70_uc011ehb.1_Missense_Mutation_p.T85M|C6orf70_uc003qxh.1_Missense_Mutation_p.T211M|C6orf70_uc010kky.1_Missense_Mutation_p.T85M	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	211						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		ATACTGTTGACGGCAGGATTG	0.358000													8	44					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2226857	2226857	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:2226857C>T	uc002lvc.1	+	12	2986	c.2219C>T	c.(2218-2220)cCg>cTg	p.P740L	DOT1L_uc002lvb.4_Missense_Mutation_p.P1446L	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1446						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GGCCTGGCCCCGGCGGCGTCC	0.756000													6	34					0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201800586	201800586	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:201800586C>T	uc002uwr.3	-	8	815	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K		NM_006190	NP_006181	Q13416	ORC2_HUMAN	Homo sapiens origin recognition complex, subunit 2 (ORC2), transcript variant 1, mRNA.	182					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|negative regulation of transcription from RNA polymerase II promoter	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	p.E182*(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GCAGAATATTCGCTTTCACTG	0.428000													5	25					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14491012	14491012	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:14491012C>T	uc001mlh.2	-	14	2081	c.1835G>A	c.(1834-1836)cGa>cAa	p.R612Q	COPB1_uc001mli.2_Missense_Mutation_p.R612Q|COPB1_uc001mlg.2_Missense_Mutation_p.R612Q	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	612					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CAGGGAAATTCGATCCACATC	0.408000													10	45					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51064979	51064979	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:51064979G>A	uc001rwv.3	+	4	594	c.438G>A	c.(436-438)tcG>tcA	p.S146S	DIP2B_uc001rwu.3_Silent_p.S146S|DIP2B_uc009zls.2_Silent_p.S28S	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	146	Ser-rich.					nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ACACATCTTCGGCCTCTGAGG	0.468000													5	51					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55684477	55684477	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:55684477T>C	uc003pcq.3	-	1	1371	c.659A>G	c.(658-660)cAa>cGa	p.Q220R	BMP5_uc011dxf.2_Missense_Mutation_p.Q220R	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	220					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTGATGATTTGATATATGCT	0.323000													6	16					0	0	1	0	0
FAM86A	196483	broad.mit.edu	37	16	5140531	5140531	+	Silent	SNP	C	C	T	rs138095454		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:5140531C>T	uc002cyo.2	-	4	427	c.378G>A	c.(376-378)acG>acA	p.T126T	FAM86A_uc002cyp.2_Silent_p.T92T	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.	126										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AGATGATGGCCGTGCTCTCGG	0.587000													10	84					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151670568	151670568	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:151670568G>A	uc011eep.2	+	3	1282	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	AKAP12_uc003qoe.3_Missense_Mutation_p.E348K|AKAP12_uc003qof.3_Missense_Mutation_p.E250K|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.E243K	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	348	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGTTGCCTCCGAGAAACTGAC	0.537000													7	69					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41525928	41525928	+	Missense_Mutation	SNP	C	C	T	rs142163190		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:41525928C>T	uc003xok.3	-	38	5335	c.5251G>A	c.(5251-5253)Gag>Aag	p.E1751K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.E905K|ANK1_uc003xoi.3_Missense_Mutation_p.E1751K|ANK1_uc003xoj.3_Missense_Mutation_p.E1751K|ANK1_uc003xol.3_Missense_Mutation_p.E1589K|ANK1_uc003xom.3_Missense_Mutation_p.E1792K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1751	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGGACCTTCTCGTACTCCTGA	0.582000													11	59					0	0	1	0	0
B3GNT7	93010	broad.mit.edu	37	2	232262921	232262921	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:232262921C>T	uc002vrs.3	+	1	671	c.491C>T	c.(490-492)gCg>gTg	p.A164V		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	164					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CGGCAGTCCGCGGGTGGGGGC	0.701000													4	17					0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44636041	44636041	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:44636041C>T	uc003cnl.1	+	2	689	c.356C>T	c.(355-357)tCa>tTa	p.S119L	ZNF660_uc021wwp.1_Missense_Mutation_p.S119L	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	Homo sapiens zinc finger protein 660 (ZNF660), mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AGTGGAAAGTCACATCTTATT	0.448000													8	31					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23868103	23868103	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:23868103T>G	uc001wjv.3	-	14	1796	c.1725A>C	c.(1723-1725)gaA>gaC	p.E575D		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	575	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGAAGTGGGCTTCCTGCTTCC	0.547000													10	40					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131073267	131073267	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:131073267G>A	uc003yta.2	-	27	2978	c.2750C>T	c.(2749-2751)cCg>cTg	p.P917L	ASAP1_uc003ysz.2_Missense_Mutation_p.P728L|ASAP1_uc011liw.2_Missense_Mutation_p.P910L	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	917	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GATTTCGGGCGGGATGGTGGC	0.532000													14	118					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44549172	44549172	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:44549172T>C	uc021ujl.1	-	0	1363	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_001094287	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	376	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTCTGTGCGGTACGGCTGATC	0.577000													19	354					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168244341	168244341	+	Missense_Mutation	SNP	C	C	T	rs143627388		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:168244341C>T	uc010jjg.3	-	7	1177	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	SLIT3_uc003mab.3_Missense_Mutation_p.V253M|SLIT3_uc010jji.2_Missense_Mutation_p.V253M|SLIT3_uc003mac.1_Missense_Mutation_p.V50M	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	253	LRRCT 1.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATCCGCCACGTTGAAGCCC	0.597000													4	44					0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180324131	180324131	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:180324131C>T	uc003fkk.3	+	7	1152	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	TTC14_uc003fkl.3_Silent_p.N340N|TTC14_uc003fkm.2_Silent_p.N340N	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	340							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACAAACAAAACGTGGAAGCTT	0.363000													5	52					0	0	1	0	0
ARAF	369	broad.mit.edu	37	X	47428238	47428238	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:47428238C>T	uc011mlp.2	+	10	1392	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	ARAF_uc011mln.2_Non-coding_Transcript|ARAF_uc011mlo.2_Missense_Mutation_p.R266C|ARAF_uc004dic.1_Missense_Mutation_p.R181C	NM_001654	NP_001645	P10398	ARAF_HUMAN	Homo sapiens v-raf murine sarcoma 3611 viral oncogene homolog (ARAF), transcript variant 1, mRNA.	400	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GGCCGACACACGCTTCGACAT	0.632000											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47630341	47630341	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:47630341A>T	uc002eev.4	+	12	1314	c.1262A>T	c.(1261-1263)aAa>aTa	p.K421I	PHKB_uc002eeu.4_Missense_Mutation_p.K414I	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	421					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GAATATGAAAAAAATAACCCT	0.348000													6	77					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95034589	95034589	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:95034589C>T	uc010avd.3	+	3	1432	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S	SERPINA4_uc001ydk.3_Silent_p.S349S|SERPINA4_uc001ydl.3_Silent_p.S349S	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	349					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTGACTTATCCGGCATCACCA	0.507000													4	31					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113666692	113666692	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:113666692G>A	uc001edf.1	+	17	3365	c.3167G>A	c.(3166-3168)cGg>cAg	p.R1056Q	LRIG2_uc009wgn.1_Missense_Mutation_p.R953Q	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	1056						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGTAGGACTCGGAACATTCAA	0.443000													6	18					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70070800	70070800	+	Missense_Mutation	SNP	G	G	A	rs149210955	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:70070800G>A	uc001svg.3	-	6	990	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	BEST3_uc001svd.2_Missense_Mutation_p.R255C|BEST3_uc001svf.3_Intron|BEST3_uc010stm.2_Missense_Mutation_p.R149C	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	255						chloride channel complex|plasma membrane	chloride channel activity	p.R255C(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAAAACTGGCGTCCAATCAGG	0.517000													9	51					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137321060	137321060	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:137321060C>T	uc004cfb.2	+	6	1179	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	RXRA_uc004cfc.1_Silent_p.S242S	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	339	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCGCCCACAGCGCAGGGGTGG	0.687000													21	77					0	0	1	0	0
NPRL3	8131	broad.mit.edu	37	16	136847	136847	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:136847G>A	uc002cfr.3	-	14	1688	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	NPRL3_uc010uua.1_Non-coding_Transcript|NPRL3_uc002cfp.2_Non-coding_Transcript|NPRL3_uc021szl.1_Missense_Mutation_p.R444C|NPRL3_uc021szm.1_Missense_Mutation_p.R497C|NPRL3_uc021szn.1_Missense_Mutation_p.R497C|NPRL3_uc002cfq.3_Missense_Mutation_p.R343C	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	Homo sapiens nitrogen permease regulator-like 3 (S. cerevisiae) (NPRL3), transcript variant 1, mRNA.	523							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						AGGTGGTGGCGGCCGCGGAAG	0.612000													5	16					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136574943	136574943	+	Missense_Mutation	SNP	C	C	T	rs147029208		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:136574943C>T	uc002tuu.1	-	5	1686	c.1675G>A	c.(1675-1677)Ggc>Agc	p.G559S		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	559	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)		TCAGAGATGCCGGGAGGGTGC	0.552000													9	57					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12540985	12540985	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:12540985A>G	uc002mtu.3	-	3	2199	c.2001T>C	c.(1999-2001)caT>caC	p.H667H		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	667					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R666K(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GAGTCTTTTTATGTCTATGCA	0.343000													10	36					0	0	1	0	0
PRM2	5620	broad.mit.edu	37	16	11369998	11369998	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:11369998C>T	uc002dau.1	-	0	340	c.230G>A	c.(229-231)cGc>cAc	p.R77H	RMI2_uc002daq.1_Intron|PRM3_uc002dat.1_5'Flank	NM_002762	NP_002753	P04554	PRM2_HUMAN	Homo sapiens protamine 2 (PRM2), mRNA.	77					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						GCGTCTTTTGCGCCTTCTGCA	0.652000													11	42					0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38249345	38249345	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:38249345G>A	uc021twy.1	+	9	1739	c.1183G>A	c.(1183-1185)Gtc>Atc	p.V395I	THRA_uc002htw.3_Missense_Mutation_p.V395I|THRA_uc002htx.3_Intron|NR1D1_uc002htz.2_Silent_p.D612D|NR1D1_uc010cwq.2_Non-coding_Transcript	NM_001190919	NP_003241	P10827	THA_HUMAN	Homo sapiens thyroid hormone receptor, alpha (THRA), transcript variant 4, mRNA.	395					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	TBP-class protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCACTGGGCGTCCACCCGGA	0.592000													5	56					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27689214	27689214	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:27689214C>T	uc002dow.3	+	6	729	c.705C>T	c.(703-705)ggC>ggT	p.G235G	KIAA0556_uc002dox.1_Silent_p.G143G	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	235										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTTCCAGTGGCGACTGGACTC	0.562000													10	51					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:21971120G>A	uc003zpk.3	-	1	544	c.238C>T	c.(238-240)Cga>Tga	p.R80*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.R80*|CDKN2A_uc003zpl.3_Missense_Mutation_p.P94L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.R80*(200)|p.?(44)|p.P135L(7)|p.T79fs*37(2)|p.R80Q(2)|p.T79fs*65(2)|p.E61_L94del(2)|p.R80fs*34(2)|p.R80?(2)|p.T79I(2)|p.L65fs*38(1)|p.0(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.A68fs*3(1)|p.T79T(1)|p.R80L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	15					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298375	36298375	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:36298375C>T	uc003oly.3	-	1	271	c.93G>A	c.(91-93)tcG>tcA	p.S31S		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	31										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCAGTCCCACGACTCCGAGC	0.647000													6	105					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127549357	127549357	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:127549357G>A	uc004bov.3	+	1	307	c.194G>A	c.(193-195)cGc>cAc	p.R65H	OLFML2A_uc010mwr.1_Missense_Mutation_p.R65H	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	65										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AGCCGAGTGCGCAGTGGGCGG	0.647000													9	61					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120587427	120587427	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:120587427G>A	uc001txo.3	-	35	4542	c.4529C>T	c.(4528-4530)tCg>tTg	p.S1510L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1510					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTCCGCCACGATTCCTCCTC	0.577000													16	62					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177036519	177036519	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:177036519G>A	uc002ukt.1	+	2	992	c.816G>A	c.(814-816)ccG>ccA	p.P272P		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	272					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCAGCCCACCGCTCGGCGGCG	0.687000													7	49					0	0	1	0	0
KAAG1	353219	broad.mit.edu	37	6	24357937	24357937	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:24357937G>A	uc003ndz.1	+	0	807	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	DCDC2_uc003ndx.3_Silent_p.P14P|DCDC2_uc003ndy.3_Silent_p.P14P	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN	Homo sapiens kidney associated antigen 1 (KAAG1), mRNA.	24					immune response					central_nervous_system(1)|lung(1)|prostate(1)	3						TCTTCACGACGGGCTGAGACA	0.667000													12	73					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1527550	1527550	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:1527550G>A	uc003skn.2	-	18	2463	c.2362C>T	c.(2362-2364)Cgg>Tgg	p.R788W	INTS1_uc003skp.1_Missense_Mutation_p.R135W	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	788					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATCTCCGTCCGGGTCTCCTCA	0.667000													33	145					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16254791	16254791	+	Splice_Site	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:16254791A>G	uc003nbs.3	+	4	406	c.292_splice	c.e4-2	p.N98_splice		NM_006877	NP_006868	P36959	GMPR1_HUMAN	Homo sapiens guanosine monophosphate reductase (GMPR), mRNA.	98					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				ATTTTGGTGCAGAATGTAGCC	0.468000													7	57					0	0	1	0	0
PRKX	5613	broad.mit.edu	37	X	3592735	3592735	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:3592735A>G	uc010nde.3	-	1	620	c.239T>C	c.(238-240)aTg>aCg	p.M80T		NM_005044	NP_005035	P51817	PRKX_HUMAN	Homo sapiens protein kinase, X-linked (PRKX), mRNA.	80	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GGGAATGCTCATCACCTTGAG	0.552000													19	38					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33236966	33236966	+	Splice_Site	SNP	G	G	A	rs148755872	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:33236966G>A	uc003odm.1	-	6	583	c.373_splice	c.e6-1	p.R125_splice	VPS52_uc003odn.1_Splice_Site|VPS52_uc003odo.1_Splice_Site_p.R50_splice|VPS52_uc011dqy.1_Splice_Site|VPS52_uc011dqz.1_5'UTR|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	125					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGCTCCATTCGCTGTAGGGAG	0.498000													21	62					0	0	1	0	0
EIF2C3	192669	broad.mit.edu	37	1	36439077	36439077	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:36439077G>A	uc001bzp.3	+	4	968	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	EIF2C3_uc001bzn.1_Missense_Mutation_p.R208Q|EIF2C3_uc001bzq.3_Intron	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	208					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding	p.R208W(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGTCTGTTCGGCCTGCCATG	0.468000													24	138					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46721968	46721968	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:46721968G>A	uc003cqa.2	-	13	1693	c.1500C>T	c.(1498-1500)acC>acT	p.T500T	ALS2CL_uc003cpz.2_Silent_p.T15T|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.T500T	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	500					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CACCTGCCTGGGTGACCATGA	0.617000													17	111					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	428070	428070	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:428070C>T	uc003jav.3	+	8	966	c.923C>T	c.(922-924)gCg>gTg	p.A308V	AHRR_uc003jaw.3_Missense_Mutation_p.A290V|AHRR_uc010isy.3_Missense_Mutation_p.A136V|AHRR_uc010isz.3_Missense_Mutation_p.A286V|AHRR_uc003jax.3_Missense_Mutation_p.A49V|AHRR_uc003jay.3_Missense_Mutation_p.A146V	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ATGAGGAGCGCGCTCCTGAGG	0.652000													5	27					0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33171401	33171401	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:33171401C>T	uc003odf.3	+	7	1338	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G	RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Silent_p.G407G|SLC39A7_uc011dqv.2_Silent_p.G282G|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	407				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).		endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GAGCAGTGGGCAGTGAAATTG	0.567000													5	77					0	0	1	0	0
AATF	26574	broad.mit.edu	37	17	35345870	35345870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:35345870C>T	uc002hni.3	+	5	1251	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*		NM_012138	NP_036270	Q9NY61	AATF_HUMAN	Homo sapiens apoptosis antagonizing transcription factor (AATF), mRNA.	334	RB1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GAAGCAGCAACGAAGAAGGGT	0.448000													4	37					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68232984	68232984	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:68232984C>T	uc001xka.2	-	31	6110	c.5971G>A	c.(5971-5973)Gtc>Atc	p.V1991I	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.V1991I	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1991					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCGGCTTTGACGAACATCATC	0.547000													22	69					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101258793	101258793	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:101258793G>A	uc004ays.3	-	3	1094	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	212					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.R212Q(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGGTCATTCCGCACCTGTCAG	0.547000													5	28					0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74906752	74906752	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:74906752G>A	uc002sna.1	+	13	1840	c.1729G>A	c.(1729-1731)Gtg>Atg	p.V577M	SEMA4F_uc010ffr.1_Missense_Mutation_p.V189M|SEMA4F_uc002snb.1_Missense_Mutation_p.V189M|SEMA4F_uc002snc.1_Missense_Mutation_p.V422M	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	577					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	p.P576P(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGAAGTTCCCGTGGCTACAGC	0.552000													30	193					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29754917	29754917	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:29754917C>A	uc003afj.3	-	4	510	c.323G>T	c.(322-324)cGg>cTg	p.R108L	AP1B1_uc003afl.3_Missense_Mutation_p.R108L|AP1B1_uc003afi.3_Missense_Mutation_p.R108L	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	108					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCCCATGGTCCGCACTGCCAG	0.622000													3	17					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67981973	67981973	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67981973T>C	uc010vkj.1	-	12	1884	c.1844A>G	c.(1843-1845)tAc>tGc	p.Y615C	SLC12A4_uc010ceu.2_Missense_Mutation_p.Y607C|SLC12A4_uc010vkh.1_Missense_Mutation_p.Y582C|SLC12A4_uc002euz.2_Missense_Mutation_p.Y613C|SLC12A4_uc010vki.1_Missense_Mutation_p.Y613C|SLC12A4_uc002eva.2_Missense_Mutation_p.Y613C|SLC12A4_uc010cev.1_5'Flank|SLC12A4_uc002evb.2_Non-coding_Transcript	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	613					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGTGATAGTACTTGAACCG	0.602000													21	126					0	0	1	0	0
STK40	83931	broad.mit.edu	37	1	36824360	36824360	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:36824360G>A	uc001cak.1	-	3	583	c.176C>T	c.(175-177)aCg>aTg	p.T59M	STK40_uc001cal.1_Missense_Mutation_p.T64M|STK40_uc001cam.1_Missense_Mutation_p.T59M|STK40_uc001can.1_Missense_Mutation_p.T59M	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	Homo sapiens serine/threonine kinase 40 (STK40), mRNA.	59	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GAAGTCATCCGTGCCATCTTT	0.567000													8	36					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114466495	114466495	+	Silent	SNP	T	T	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:114466495T>A	uc003kqs.3	-	8	2135	c.1626A>T	c.(1624-1626)ggA>ggT	p.G542G	TRIM36_uc011cwc.2_Silent_p.G530G|TRIM36_uc003kqt.3_Silent_p.G387G	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	542	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GAAGATTAAATCCAGCTCTAC	0.398000													10	53					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89337296	89337296	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:89337296G>A	uc002fmx.1	-	11	8196	c.7735C>T	c.(7735-7737)Cgc>Tgc	p.R2579C	ANKRD11_uc002fmy.1_Missense_Mutation_p.R2579C|AX747440_uc002fmz.1_Non-coding_Transcript	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2579						nucleus		p.R2579H(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAACGGTCGCGCACTGACTTG	0.597000													6	26					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175886	57175886	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:57175886G>A	uc010ygn.2	-	1	908	c.681C>T	c.(679-681)tgC>tgT	p.C227C		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ACGCCTTGGCGCACTGGGCGC	0.706000													12	20					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124988246	124988246	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:124988246G>A	uc003yqw.3	+	8	998	c.792G>A	c.(790-792)gcG>gcA	p.A264A		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	264	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCATCATGGCGAACGTCACCA	0.507000													27	126					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101661556	101661556	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:101661556G>A	uc003yjr.3	-	1	238	c.87C>T	c.(85-87)gaC>gaT	p.D29D		NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	29	PX.				cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AGAGGAACCCGTCCAGGTGCA	0.627000													6	51					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98608824	98608824	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:98608824G>A	uc003upp.3	+	69	11255	c.11046G>A	c.(11044-11046)gcG>gcA	p.A3682A	TRRAP_uc011kis.2_Silent_p.A3653A|TRRAP_uc003upr.3_Silent_p.A3388A|TRRAP_uc003ups.3_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3682	PI3K/PI4K.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAGGCTTCGCGGAATTCGTCC	0.537000													15	85					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505158	47505158	+	Missense_Mutation	SNP	C	C	T	rs151115170		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:47505158C>T	uc001cqt.3	+	7	1277	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	CYP4X1_uc001cqr.3_Missense_Mutation_p.R342W|CYP4X1_uc001cqs.3_Missense_Mutation_p.R278W	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	343						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AGAGAGATGCCGGGAGGAGGT	0.522000													6	42					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20668422	20668422	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:20668422G>A	uc010kuh.3	+	3	457	c.220G>A	c.(220-222)Gat>Aat	p.D74N		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	271	ABC transporter 1.				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			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						AGAAATGAGTGATAACCTTAT	0.393000													4	16					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76241900	76241900	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:76241900G>A	uc010ask.2	+	22	2527	c.2252G>A	c.(2251-2253)cGa>cAa	p.R751Q	TTLL5_uc001xrx.3_Missense_Mutation_p.R737Q|TTLL5_uc001xrz.3_Missense_Mutation_p.R312Q|TTLL5_uc001xry.1_Non-coding_Transcript	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	737					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTACCCAGTCGACGATTGGCA	0.448000													14	66					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48694826	48694826	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:48694826G>A	uc001crn.2	+	3	443	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	SLC5A9_uc010oms.1_Intron|SLC5A9_uc001cro.2_Intron|SLC5A9_uc010omt.1_Missense_Mutation_p.G124R|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_Intron	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						aaggtcacacgggaggactgg	0.532000													23	134					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123426765	123426765	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:123426765G>A	uc003ego.3	-	15	2508	c.2226C>T	c.(2224-2226)tgC>tgT	p.C742C	MYLK_uc011bjw.2_Silent_p.C742C|MYLK_uc003egp.3_Silent_p.C673C|MYLK_uc003egq.3_Silent_p.C742C|MYLK_uc003egr.3_Silent_p.C673C|MYLK_uc003egs.3_Silent_p.C566C	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	742	Ig-like C2-type 6.				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)		CAGCTATGGCGCAGGAGATGA	0.577000													9	30					0	0	1	0	0
CABP7	164633	broad.mit.edu	37	22	30125184	30125184	+	Silent	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:30125184C>A	uc003agl.3	+	3	577	c.507C>A	c.(505-507)ccC>ccA	p.P169P		NM_182527	NP_872333	Q86V35	CABP7_HUMAN	Homo sapiens calcium binding protein 7 (CABP7), mRNA.	169						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			AGGAGTGTCCCGTGGATGTGG	0.637000													3	14					0	0	1	0	0
C17orf56	146705	broad.mit.edu	37	17	79207242	79207242	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:79207242G>A	uc002jzu.2	-	6	574	c.516C>T	c.(514-516)caC>caT	p.H172H	C17orf56_uc002jzr.2_5'Flank|C17orf56_uc002jzs.2_Silent_p.H20H|C17orf56_uc002jzt.2_Silent_p.H20H|C17orf56_uc002jzv.2_Silent_p.H20H|AL832593_uc002jzw.1_Non-coding_Transcript	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA.	172						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)			CCGTGCGGCCGTGTTCCTTGC	0.682000													3	24					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160468851	160468851	+	Missense_Mutation	SNP	C	C	T	rs146539241		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:160468851C>T	uc003qta.3	+	16	2405	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	753					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTACAACTTCCGGTGGTACAC	0.547000													24	85					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57422471	57422471	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:57422471C>T	uc001cyp.3	-	2	429	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	C8B_uc010oon.2_Missense_Mutation_p.R59Q|C8B_uc010ooo.2_Missense_Mutation_p.R69Q	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	121	LDL-receptor class A.				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						GCCTTCACATCGCACTTGACT	0.483000													49	255					0	0	1	0	0
CHRNE	1145	broad.mit.edu	37	17	4805274	4805274	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:4805274C>A	uc002fzk.1	-	4	464	c.453G>T	c.(451-453)gaG>gaT	p.E151D	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	Homo sapiens cholinergic receptor, nicotinic, epsilon (CHRNE), mRNA.	151					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						AGTAGGTGACCTCCACTGCGC	0.617000													16	62					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72157464	72157464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72157464G>A	uc002fcc.4	-	17	2861	c.2689C>T	c.(2689-2691)Caa>Taa	p.Q897*	PMFBP1_uc002fcd.3_Nonsense_Mutation_p.Q892*|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Nonsense_Mutation_p.Q747*	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	897										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTGCCCATTGCTCCAAGTTG	0.547000													5	33					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29099850	29099850	+	Missense_Mutation	SNP	G	G	A	rs121913013		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:29099850G>A	uc002kwu.4	+	2	354	c.166G>A	c.(166-168)Gtg>Atg	p.V56M		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	56	Cadherin 1.		V -> M (associated with CMD1BB and ARVD10 although it may not be sufficient by itself to result in cardiomyopathy).		cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CACCGCCCCCGTGGCTCTTCG	0.443000													14	30					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	179025750	179025750	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:179025750C>T	uc003mka.1	+	13	1689	c.1689C>T	c.(1687-1689)cgC>cgT	p.R563R	RUFY1_uc003mkb.1_Silent_p.R455R|RUFY1_uc003mkc.1_Silent_p.R455R|RUFY1_uc003mkd.1_Silent_p.R165R	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	563					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTTCAGCGCGAATTACAGC	0.478000										HNSCC(44;0.11)			15	99					0	0	1	0	0
OR9G9	390174	broad.mit.edu	37	11	56468308	56468308	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:56468308T>C	uc010rjn.2	+	0	445	c.445T>C	c.(445-447)Tgt>Cgt	p.C149R	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										AGTCTCATATTGTGGTGGCTT	0.453000													9	116					0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57545300	57545300	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:57545300C>T	uc003diw.4	+	2	1525	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	PDE12_uc003div.3_3'UTR	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	Homo sapiens phosphodiesterase 12 (PDE12), mRNA.	467							hydrolase activity	p.R467H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TGGGTATATTCGCCTCATTCA	0.328000													12	25					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22389827	22389827	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:22389827G>A	uc003gqm.1	-	18	3732	c.3467C>T	c.(3466-3468)gCg>gTg	p.A1156V	GPR125_uc010ieo.1_Missense_Mutation_p.A1012V|GPR125_uc003gql.1_Missense_Mutation_p.A283V	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	1156					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTCTAAAGGCGCCACGTGCAT	0.453000													5	50					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129910063	129910063	+	Silent	SNP	A	A	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:129910063A>T	uc001lke.3	-	10	2301	c.2106T>A	c.(2104-2106)gtT>gtA	p.V702V	MKI67_uc001lkf.3_Silent_p.V342V|MKI67_uc009yav.1_Silent_p.V277V|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	702					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATTGACTGTGAACTTCGCCCA	0.443000													12	41					0	0	1	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39382073	39382073	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:39382073G>A	uc003awo.1	+	2	485	c.431G>A	c.(430-432)cGc>cAc	p.R144H	APOBEC3B_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.R144H|APOBEC3B_uc003awq.1_Non-coding_Transcript	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B (APOBEC3B), mRNA.	144					negative regulation of transposition		RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GCAGGAGCCCGCGTGACGATC	0.587000													17	72					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78357529	78357529	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:78357529G>A	uc002jyh.2	+	59	14413	c.14270G>A	c.(14269-14271)cGt>cAt	p.R4757H	RNF213_uc021uen.1_Missense_Mutation_p.R4708H|LOC100294362_uc002jyi.2_Intron|RNF213_uc010dhx.2_5'Flank	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)			CAAGATAAGCGTATCAGCTCT	0.438000													13	56					0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	792315	792315	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:792315T>C	uc001lri.3	-	7	1115	c.731A>G	c.(730-732)aAc>aGc	p.N244S	CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.3_Missense_Mutation_p.N244S|SLC25A22_uc001lrj.3_Missense_Mutation_p.N244S	NM_024698	NP_078974	Q9H936	GHC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier: glutamate), member 22 (SLC25A22), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	244						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	ATCACAGGGGTTGACGGCCAC	0.692000													9	122					0	0	1	0	0
ZBTB17	7709	broad.mit.edu	37	1	16270144	16270144	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16270144C>T	uc001axl.4	-	10	1765	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	ZBTB17_uc010obs.2_Missense_Mutation_p.R433Q|ZBTB17_uc010obq.2_Missense_Mutation_p.R427Q|ZBTB17_uc010obr.2_Missense_Mutation_p.R509Q	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	Homo sapiens zinc finger and BTB domain containing 17 (ZBTB17), transcript variant 2, mRNA.	509					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAAACTGTCGCTGGCAGTG	0.672000													11	46					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104142908	104142908	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:104142908C>T	uc001tjw.3	+	58	6598	c.6412C>T	c.(6412-6414)Cac>Tac	p.H2138Y	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2138	EGF-like 17.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGTCACGAGCACGCCACCTG	0.607000													8	38					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148865589	148865589	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:148865589C>T	uc003qme.1	+	17	3458	c.2983C>T	c.(2983-2985)Cgc>Tgc	p.R995C	SASH1_uc011eeb.1_Missense_Mutation_p.R756C|SASH1_uc003qmf.1_Missense_Mutation_p.R405C	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	995	Pro-rich.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GAGCAGAGAACGCCTTGCTAA	0.612000													13	71					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65366866	65366866	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65366866G>A	uc001oew.3	-	9	2699	c.2206_splice	c.e9+1	p.G736_splice	MAP3K11_uc001oev.3_Splice_Site_p.G152_splice|MAP3K11_uc010rol.2_Splice_Site_p.G479_splice|MAP3K11_uc001oex.1_Splice_Site_p.G243_splice	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	736	Pro-rich.				G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GCCACTCACCGCGGGGCTCCT	0.687000													3	10					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382965	22382965	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:22382965C>T	uc001yuc.1	+	6	1474	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.R165C	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R165S(2)|p.R165H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTCATCCTCCGCTTGCCTTT	0.517000													15	66					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044583	119044583	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:119044583G>A	uc001lde.1	-	4	1860	c.1661C>T	c.(1660-1662)cCg>cTg	p.P554L		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	554	Pro-rich.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CTGAATTTTCGGTGGTAGTGG	0.423000													15	64					0	0	1	0	0
KLRAP1	10748	broad.mit.edu	37	12	10750711	10750711	+	RNA	SNP	A	A	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:10750711A>C	uc010shf.2	-	1		c.412T>G			KLRAP1_uc010shg.2_Non-coding_Transcript|KLRAP1_uc009zho.3_Non-coding_Transcript|KLRAP1_uc009zhn.3_Non-coding_Transcript					Homo sapiens killer cell lectin-like receptor subfamily A pseudogene 1 (KLRAP1), non-coding RNA.											breast(1)|large_intestine(1)|lung(1)	3						TCTGAAGGAGACTGCAAAAAT	0.383000													16	89					0	0	1	0	0
RLBP1	6017	broad.mit.edu	37	15	89760443	89760443	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:89760443G>A	uc002bnl.3	-	4	634	c.254C>T	c.(253-255)gCg>gTg	p.A85V		NM_000326	NP_000317	P12271	RLBP1_HUMAN	Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA.	85					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity	p.A85A(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CACCCTCTCCGCCACGGCCAC	0.667000													9	53					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427785	119427785	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:119427785C>T	uc001ehl.1	-	7	1376	c.1061G>A	c.(1060-1062)aGc>aAc	p.S354N	TBX15_uc009whj.1_Missense_Mutation_p.S178N	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	460						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTCCATCTTGCTGTTGCCAGG	0.567000													6	62					0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127956952	127956952	+	Splice_Site	SNP	C	C	T	rs138626696		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:127956952C>T	uc002tod.2	-	4	683	c.552_splice	c.e4+1	p.T184_splice	CYP27C1_uc021vnn.1_Splice_Site_p.T184_splice	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	184						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CCAGACTCACCGTGTCGACGC	0.562000													10	107					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20073512	20073512	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:20073512C>T	uc002zri.3	+	1	455	c.26C>T	c.(25-27)cCg>cTg	p.P9L	DGCR8_uc010grz.3_Missense_Mutation_p.P9L|DGCR8_uc021wlp.1_5'Flank|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	9	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGCCCCTCTCCGCTCCCGTGT	0.557000													14	104					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350061	89350061	+	Silent	SNP	G	G	A	rs139955323		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:89350061G>A	uc002fmx.1	-	8	3350	c.2889C>T	c.(2887-2889)gaC>gaT	p.D963D	ANKRD11_uc002fmy.1_Silent_p.D963D|ANKRD11_uc002fnc.1_Silent_p.D963D|ANKRD11_uc002fnb.1_Silent_p.D920D	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	963	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGGCCCTGCCGTCCCTGCGCT	0.647000													26	106					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136568130	136568130	+	Missense_Mutation	SNP	C	C	T	rs148314623		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:136568130C>T	uc004cep.4	-	12	1710	c.1576G>A	c.(1576-1578)Ggg>Agg	p.G526R	SARDH_uc004ceo.3_Missense_Mutation_p.G526R|SARDH_uc011mdo.2_Missense_Mutation_p.G358R|SARDH_uc011mdn.2_Missense_Mutation_p.G526R|SARDH_uc004cen.3_5'UTR	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	526					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.G526W(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCGTAAGCCCCGTAGTAGTCG	0.667000													8	31					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93624977	93624977	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:93624977G>A	uc003drb.4	-	4	698	c.357C>T	c.(355-357)gaC>gaT	p.D119D	PROS1_uc010hoo.3_5'UTR|PROS1_uc003dqz.4_5'UTR	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	119	EGF-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.D119G(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GACTACACTGGTCTGGAATGG	0.358000													12	68					0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716036	153716036	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:153716036C>T	uc022cig.1	-	0	1244	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Missense_Mutation_p.R386Q|SLC10A3_uc004flq.3_Missense_Mutation_p.R415Q|SLC10A3_uc004flp.3_Missense_Mutation_p.R415Q	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	415					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGACCGTCCGCCGCTGGGC	0.642000													3	19					0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76397716	76397716	+	Silent	SNP	G	G	A	rs11811988		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:76397716G>A	uc001dhe.2	-	0	401	c.261C>T	c.(259-261)ctC>ctT	p.L87L	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	87					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CAGTGAAGTCGAGGTTAAAAC	0.378000													10	28					0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5550838	5550838	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:5550838C>T	uc002wme.4	-	11	1317	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V	GPCPD1_uc002wmd.4_Silent_p.V187V	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	Homo sapiens glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) (GPCPD1), mRNA.	368	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						ATACCACGGGCACAAAGTCCT	0.363000													4	46					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107309880	107309880	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:107309880C>T	uc010rvp.2	-	5	630	c.600G>A	c.(598-600)ccG>ccA	p.P200P	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	200							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CCTTCCAGTACGGATTCAATT	0.318000													6	12					0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779319	205779319	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:205779319C>T	uc001hdh.1	-	1	1123	c.251G>A	c.(250-252)gGc>gAc	p.G84D		NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	Homo sapiens solute carrier family 41, member 1 (SLC41A1), mRNA.	84						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGGCGCAGGGCCACGGTCTGT	0.627000													10	75					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29297043	29297043	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:29297043G>A	uc002rmt.2	-	0	85	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	29					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATCCTGGCCGAATTGCTTTG	0.512000													12	43					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58615359	58615359	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:58615359G>A	uc002env.3	-	10	1398	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.R369C|CNOT1_uc002enx.3_Missense_Mutation_p.R369C|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	369					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.R369C(3)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTACTGTCACGAATTTGAAAT	0.373000													7	40					0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40223918	40223918	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:40223918C>T	uc010skm.2	-	6	1483	c.1432G>A	c.(1432-1434)Gca>Aca	p.A478T	C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Missense_Mutation_p.A125T	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	478						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCCCAGGCTGCCTCATTTGTA	0.378000										HNSCC(50;0.14)			5	22					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116718256	116718256	+	Silent	SNP	C	C	T	rs139869704	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:116718256C>T	uc001ppy.3	-	21	3606	c.3570G>A	c.(3568-3570)tcG>tcA	p.S1190S	SIK3_uc001ppz.3_Silent_p.S1029S|SIK3_uc001pqa.3_Silent_p.S1130S|SIK3_uc001ppw.3_Silent_p.S547S|SIK3_uc001ppx.3_Silent_p.S568S	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	1190						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S1296S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAACTGCATCCGACATCCGGG	0.512000													26	110					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148586656	148586656	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:148586656C>T	uc003lpy.2	+	5	785	c.534C>T	c.(532-534)tgC>tgT	p.C178C	ABLIM3_uc003lpz.1_Silent_p.C178C|ABLIM3_uc003lqa.1_Silent_p.C186C|ABLIM3_uc003lqb.3_Silent_p.C178C|ABLIM3_uc003lqc.1_Silent_p.C178C|ABLIM3_uc003lqd.1_Silent_p.C178C|ABLIM3_uc003lqe.1_Silent_p.C178C|ABLIM3_uc003lqf.3_Silent_p.C178C	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	178	LIM zinc-binding 3.				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)			GCTTCAAGTGCCAGACCTGCA	0.622000													10	40					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17943479	17943479	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:17943479C>T	uc002nhn.4	-	18	2629	c.2529G>A	c.(2527-2529)ccG>ccA	p.P843P	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Silent_p.P843P	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	843	Protein kinase 2.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGTCGCCTAGCGGGTCATAGC	0.622000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								15	76					0	0	1	0	0
EDC3	80153	broad.mit.edu	37	15	74948199	74948199	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:74948199C>T	uc002ayn.3	-	6	1183	c.695G>A	c.(694-696)cGt>cAt	p.R232H	EDC3_uc002ayo.3_Missense_Mutation_p.R232H|EDC3_uc002aym.3_Missense_Mutation_p.R232H	NM_001142443	NP_079359	Q96F86	EDC3_HUMAN	Homo sapiens enhancer of mRNA decapping 3 homolog (S. cerevisiae) (EDC3), transcript variant 1, mRNA.	232	Required for interaction with DDX6 (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCCCCGGGAACGGGTACCACT	0.502000													11	51					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479895	4479895	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:4479895A>G	uc001qmq.1	-	2	516	c.370T>C	c.(370-372)Tac>Cac	p.Y124H		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	124					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TAGACGTCGTACCCGTTTTCC	0.597000													20	110					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12058329	12058329	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:12058329G>A	uc010xme.2	+	4	436	c.245_splice	c.e4-1	p.G82_splice	ZNF700_uc002msu.3_Splice_Site_p.G64_splice|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGTATTTTAGGAAAAAAATGG	0.368000													5	40					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877090	24877090	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:24877090C>A	uc001wpf.4	+	2	532	c.214C>A	c.(214-216)Ctg>Atg	p.L72M		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	72					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGAAGGGCCTGTGCAGCCC	0.627000													16	81					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47955075	47955075	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:47955075T>C	uc003tny.2	-	7	1216	c.1182A>G	c.(1180-1182)tcA>tcG	p.S394S		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	394					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						tactggggtctgagtcttcca	0.398000													12	48					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156746769	156746769	+	Splice_Site	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:156746769G>T	uc021ygm.1	+	14	1492	c.1354_splice	c.e14-1	p.V452_splice	CYFIP2_uc011ddn.2_Splice_Site_p.V427_splice|CYFIP2_uc011ddo.2_Splice_Site_p.V257_splice|CYFIP2_uc021ygn.1_Splice_Site_p.V452_splice|CYFIP2_uc021ygo.1_Splice_Site_p.V452_splice|CYFIP2_uc003lwt.3_Splice_Site_p.V331_splice|CYFIP2_uc011ddp.2_Splice_Site_p.V187_splice	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	453					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)			TTCCTGCCCAGGTGATCGCCA	0.597000													5	24					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36181863	36181863	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:36181863C>T	uc003olv.4	+	7	2913	c.2689C>T	c.(2689-2691)Cgc>Tgc	p.R897C	BRPF3_uc010jwb.3_Intron|BRPF3_uc011dtj.2_Intron|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	897					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding	p.R897H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCCTTTGCAACGCTTGCTCAG	0.537000													16	101					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628275	51628275	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:51628275C>T	uc010yct.2	+	0	139	c.44C>T	c.(43-45)gCg>gTg	p.A15V	SIGLEC9_uc002pvu.3_Missense_Mutation_p.A15V	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	15					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGGGAGAGGGCGGAAGGACAG	0.612000													7	36					0	0	1	0	0
ZRANB2	9406	broad.mit.edu	37	1	71536662	71536662	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:71536662G>A	uc001dft.3	-	6	825	c.531C>T	c.(529-531)gaC>gaT	p.D177D	ZRANB2_uc001dfs.3_Silent_p.D177D	NM_203350	NP_976225	O95218	ZRAB2_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 2 (ZRANB2), transcript variant 1, mRNA.	177	Required for nuclear targeting.				RNA splicing|mRNA processing	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						AGAGATCAGCGTCATCTTCAT	0.328000													3	10					0	0	1	0	0
LGALS14	56891	broad.mit.edu	37	19	40199855	40199855	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:40199855C>T	uc002omf.3	+	4	850	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	LGALS14_uc002omg.3_Missense_Mutation_p.R108C	NM_203471	NP_982297	Q8TCE9	PPL13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 14 (LGALS14), transcript variant 2, mRNA.	108	Galectin.					nucleus	sugar binding	p.R137L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			AAATGGCCAACGCATTTACAA	0.463000													10	41					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101586126	101586126	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:101586126G>A	uc003yjr.3	-	13	1441	c.1290C>T	c.(1288-1290)tgC>tgT	p.C430C	SNX31_uc011lha.2_Silent_p.C225C|SNX31_uc011lhb.2_Silent_p.C331C	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	430					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TCCCAAAAACGCAGTCATCTT	0.348000													3	26					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140789375	140789375	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140789375G>A	uc003lkj.2	+	0	1606	c.1606G>A	c.(1606-1608)Gac>Aac	p.D536N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.D536N	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	538	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)			GCAGGCCCGCGACCACGGCTC	0.687000													3	22					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30627570	30627570	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:30627570C>T	uc003nqz.3	-	10	2009	c.1797G>A	c.(1795-1797)gtG>gtA	p.V599V	DHX16_uc003nqy.3_Silent_p.V118V|DHX16_uc011dmo.2_Silent_p.V539V	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	599	Helicase C-terminal.				RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						GGATCTGCAACACAGATACTA	0.562000													8	36					0	0	1	0	0
IL1RAP	3556	broad.mit.edu	37	3	190322109	190322109	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:190322109G>A	uc010hzg.2	+	4	678	c.257G>A	c.(256-258)cGc>cAc	p.R86H	IL1RAP_uc003fsk.3_Missense_Mutation_p.R86H|IL1RAP_uc003fsl.3_Missense_Mutation_p.R86H|IL1RAP_uc003fsm.2_Missense_Mutation_p.R86H|IL1RAP_uc003fso.2_Missense_Mutation_p.R86H|IL1RAP_uc003fsn.2_Non-coding_Transcript|IL1RAP_uc003fsp.2_Non-coding_Transcript|IL1RAP_uc003fsq.3_Missense_Mutation_p.R86H	NM_001167928	NP_002173	Q9NPH3	IL1AP_HUMAN	Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA.	86	Ig-like C2-type 1.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATTAACTTCCGCCTCCCCGAG	0.507000													15	51					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48506591	48506591	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:48506591T>G	uc003toq.2	+	43	12878	c.12854T>G	c.(12853-12855)cTg>cGg	p.L4285R	ABCA13_uc010kys.1_Missense_Mutation_p.L1360R|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Intron	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4285					transport	integral to membrane	ATP binding|ATPase activity	p.H4285R(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGTGTGCTTCTGCGGAAGTTT	0.478000													22	104					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47933631	47933631	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:47933631T>C	uc003tny.2	-	14	2331	c.2297A>G	c.(2296-2298)tAc>tGc	p.Y766C		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	766	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTAGTTGCTGTACACCACACT	0.582000													18	48					0	0	1	0	0
DNASE2	1777	broad.mit.edu	37	19	12989582	12989582	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:12989582G>A	uc002mvn.1	-	3	559	c.413C>T	c.(412-414)cCg>cTg	p.P138L	DNASE2_uc010xmr.1_Intron	NM_001375	NP_001366	O00115	DNS2A_HUMAN	Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA.	138					apoptosis	lysosome	DNA binding|deoxyribonuclease II activity|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGAGGAGGCCGGTGGAGGGAA	0.587000													6	28					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101758534	101758534	+	Missense_Mutation	SNP	G	G	A	rs144091204		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:101758534G>A	uc003uys.4	+	7	815	c.688G>A	c.(688-690)Gat>Aat	p.D230N	CUX1_uc003uyw.3_Missense_Mutation_p.D184N|CUX1_uc003uyv.3_Missense_Mutation_p.D214N|CUX1_uc003uyt.3_Missense_Mutation_p.D230N|CUX1_uc003uyu.3_Missense_Mutation_p.D230N|CUX1_uc011kkn.2_Missense_Mutation_p.D193N|CUX1_uc003uyx.4_Missense_Mutation_p.D219N	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	219					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AACCAAATACGATGAAGAAAC	0.373000													5	53					0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365808	13365808	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:13365808G>A	uc003nat.2	-	1	1087	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	GFOD1_uc021ylt.1_Missense_Mutation_p.L11F|GFOD1_uc003nas.2_Missense_Mutation_p.L11F	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.	114						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATGCTCATGAGCTTGGGGTAG	0.652000													22	138					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17800327	17800327	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:17800327G>A	uc003ncg.4	-	20	2632	c.2472C>T	c.(2470-2472)caC>caT	p.H824H	KIF13A_uc003ncf.3_Silent_p.H824H|KIF13A_uc003nch.4_Silent_p.H824H|KIF13A_uc003nci.4_Silent_p.H824H	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	824					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)			TCACTTCCACGTGGAGACGCC	0.542000													8	36					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34150103	34150103	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:34150103C>T	uc001zhi.3	+	98	14200	c.14130C>T	c.(14128-14130)gaC>gaT	p.D4710D	RYR3_uc010bar.3_Silent_p.D4705D	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4710					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D4709N(2)|p.D4710N(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAAGTGCGACGACATGATGA	0.597000													6	32					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	871404	871404	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:871404G>A	uc003gbm.4	-	16	2055	c.1856_splice	c.e16+1	p.R619_splice	GAK_uc003gbn.4_Splice_Site_p.R540_splice|GAK_uc010ibk.1_Splice_Site_p.R513_splice|GAK_uc003gbl.4_Splice_Site_p.R483_splice	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	619	C2 tensin-type.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TGCACTCACCGCATCTTGTCG	0.652000													5	39					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6959468	6959468	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:6959468G>A	uc002knm.3	-	53	7744	c.7650C>T	c.(7648-7650)atC>atT	p.I2550I	LAMA1_uc002knl.3_Silent_p.I3I|LAMA1_uc010wzj.2_Silent_p.I2026I	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2550	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTGCCTCCGATCAGCATGA	0.478000													9	42					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160494345	160494345	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:160494345T>C	uc003qta.3	+	33	4939	c.4791T>C	c.(4789-4791)ccT>ccC	p.P1597P		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1597					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATGGGTCCCCTTGTCCCTCCA	0.577000													11	30					0	0	1	0	0
HECA	51696	broad.mit.edu	37	6	139487597	139487597	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:139487597C>T	uc003qin.3	+	1	733	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	150					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CTGCATCGGCCGCGCGCGCAG	0.617000													22	64					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65147754	65147754	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:65147754G>A	uc001dbo.1	+	25	3503	c.3398G>A	c.(3397-3399)cGc>cAc	p.R1133H	CACHD1_uc001dbp.1_Missense_Mutation_p.R888H|CACHD1_uc001dbq.1_Missense_Mutation_p.R888H|CACHD1_uc010opa.1_Missense_Mutation_p.R377H	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	1184					calcium ion transport	integral to membrane		p.R1132C(2)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGAAGGCGCCGCTACTGGGGT	0.498000													5	42					0	0	1	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36057737	36057737	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:36057737C>T	uc001mwk.1	+	1	168	c.131C>T	c.(130-132)cCg>cTg	p.P44L	LDLRAD3_uc010rey.1_Intron|LDLRAD3_uc010rez.1_Intron	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 3 (LDLRAD3), mRNA.	44	LDL-receptor class A 1.					integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CGGTGCATCCCGGGCGCCTGG	0.612000													6	97					0	0	1	0	0
THAP3	90326	broad.mit.edu	37	1	6688564	6688564	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:6688564C>T	uc001aoc.3	+	2	239	c.80C>T	c.(79-81)cCg>cTg	p.P27L	THAP3_uc001aod.3_Missense_Mutation_p.P27L|THAP3_uc001aoe.2_Missense_Mutation_p.P27L	NM_001195753	NP_001182682	Q8WTV1	THAP3_HUMAN	Homo sapiens THAP domain containing, apoptosis associated protein 3 (THAP3), transcript variant 3, mRNA.	27							DNA binding|metal ion binding			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTTAGGTTTCCGTTCAGCCGC	0.597000													3	19					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130059742	130059742	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:130059742G>A	uc001qfw.3	+	4	742	c.549G>A	c.(547-549)ccG>ccA	p.P183P	ST14_uc010sca.1_5'Flank	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	183					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGCTGCCCCCGCGGGCGCGCT	0.667000													19	82					0	0	1	0	0
C1orf174	339448	broad.mit.edu	37	1	3806546	3806546	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:3806546T>C	uc001alf.3	-	3	817	c.710A>G	c.(709-711)gAc>gGc	p.D237G	C1orf174_uc009vls.3_Non-coding_Transcript	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN	Homo sapiens chromosome 1 open reading frame 174 (C1orf174), mRNA.	237	Poly-Asp.							p.D236D(1)		endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		atcatcgtcgtcgtcatcatc	0.388000													7	30					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204409441	204409441	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:204409441G>A	uc001haw.3	-	22	3737	c.3258C>T	c.(3256-3258)gaC>gaT	p.D1086D	PIK3C2B_uc010pqv.2_Silent_p.D1058D	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1086	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCGAAGGTCGTCCCCACACT	0.552000													12	74					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65107961	65107961	+	Silent	SNP	C	C	T	rs139698375		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65107961C>T	uc001odm.3	+	1	271	c.138C>T	c.(136-138)acC>acT	p.T46T	DPF2_uc010roe.2_Silent_p.T46T	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	46					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						ACTCACAGACCGGAGTAGCCC	0.562000													17	85					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1256378	1256378	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:1256378C>T	uc001lta.3	+	21	2753	c.2694C>T	c.(2692-2694)taC>taT	p.Y898Y	MUC5B_uc009yct.2_Silent_p.Y898Y	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	898	VWFC 1.|VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.Y901Y(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCGTGGCCTACGGGGATGGCC	0.652000													8	42					0	0	1	0	0
ANKRD20A3	441425	broad.mit.edu	37	9	67951950	67951950	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:67951950G>A	uc004aeu.3	+	8	1025	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	ANKRD20A3_uc010mnn.3_Missense_Mutation_p.V304M	NM_001012419	NP_115626	Q5VUR7	A20A3_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A3 (ANKRD20A3), mRNA.	305																	CCCCGAGAAAGTGTCAGAGCC	0.343000													16	103					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122261737	122261737	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:122261737A>G	uc022akp.1	-	4	1324	c.902T>C	c.(901-903)aTg>aCg	p.M301T	CADPS2_uc003vkg.4_Missense_Mutation_p.M1T|CADPS2_uc022akq.1_Missense_Mutation_p.M301T|CADPS2_uc010lkq.3_Missense_Mutation_p.M301T|CADPS2_uc022akr.1_Missense_Mutation_p.M301T	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	301					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						CATATTCTCCATATCTTTTGC	0.289000													4	15					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210796908	210796908	+	Silent	SNP	C	C	T	rs117382486	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:210796908C>T	uc010psr.2	+	9	1392	c.1287C>T	c.(1285-1287)caC>caT	p.H429H	HHAT_uc009xcx.3_Silent_p.H428H|HHAT_uc010psq.2_Silent_p.H291H|HHAT_uc009xcy.3_Silent_p.H363H|HHAT_uc010pss.2_Silent_p.H383H|HHAT_uc010pst.2_Silent_p.H365H|HHAT_uc001hhz.4_Silent_p.H428H|HHAT_uc021pip.1_Silent_p.H428H|HHAT_uc010psu.2_Silent_p.H363H|HHAT_uc001hia.4_Silent_p.H118H	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	428					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCGATTCCACGCTGCCCTTG	0.502000													35	184					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77924841	77924841	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:77924841C>G	uc021qny.1	+	10	3395	c.3039C>G	c.(3037-3039)ttC>ttG	p.F1013L	USP35_uc001ozc.3_Missense_Mutation_p.F581L|USP35_uc010rsp.2_Missense_Mutation_p.F445L|USP35_uc001ozd.3_Missense_Mutation_p.F624L|USP35_uc001ozf.3_Missense_Mutation_p.F744L	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	1013					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GTGGTGACTTCCACAGACTGG	0.592000													5	39					0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75199713	75199713	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:75199713G>A	uc010dhc.3	+	9	1391	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	SEC14L1_uc021udv.1_Silent_p.A357A|SEC14L1_uc021udw.1_Silent_p.A357A|SEC14L1_uc021udx.1_Silent_p.A357A|SEC14L1_uc002jto.3_Silent_p.A357A|SEC14L1_uc010wth.2_Silent_p.A357A|SEC14L1_uc002jtm.3_Silent_p.A357A|SEC14L1_uc010wti.2_Silent_p.A323A	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	357	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGGTGAGAGCGCTCGGGGAGG	0.602000													4	21					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	130010333	130010333	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:130010333C>T	uc010sby.2	+	14	2071	c.1914C>T	c.(1912-1914)gcC>gcT	p.A638A	APLP2_uc001qfp.3_Silent_p.A626A|APLP2_uc001qfq.3_Silent_p.A570A|APLP2_uc010sbz.2_Silent_p.A426A|APLP2_uc001qfr.3_Silent_p.A392A|APLP2_uc001qfs.3_Silent_p.A397A|APLP2_uc021qsg.1_Silent_p.A636A|APLP2_uc001qfv.3_Silent_p.A529A|APLP2_uc009zcv.3_5'UTR	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	638					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGATCGGTGCCGAAGAGAAAG	0.488000													8	49					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44981521	44981521	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:44981521T>C	uc002ozf.4	-	4	1459	c.1177A>G	c.(1177-1179)Agc>Ggc	p.S393G	ZNF180_uc002ozh.4_Missense_Mutation_p.S50G|ZNF180_uc002ozi.4_Missense_Mutation_p.S366G|ZNF180_uc002ozg.4_Missense_Mutation_p.S392G|ZNF180_uc010ejm.3_Missense_Mutation_p.S368G	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGGTGCGAGCTCCGGCTGAAG	0.453000													5	46					0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1234615	1234615	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:1234615C>T	uc002lrm.2	-	5	839	c.564G>A	c.(562-564)acG>acA	p.T188T		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	214						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		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)		CCGGGTGGGGCGTGGTGGCTG	0.682000										HNSCC(14;0.022)			4	10					0	0	1	0	0
C5orf45	51149	broad.mit.edu	37	5	179264647	179264647	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:179264647G>A	uc003mla.3	-	6	820	c.776C>T	c.(775-777)cCa>cTa	p.P259L	SQSTM1_uc011dgr.2_3'UTR|SQSTM1_uc011dgs.2_3'UTR|SQSTM1_uc003mkw.4_3'UTR|SQSTM1_uc003mkx.3_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.3_Missense_Mutation_p.P204L|C5orf45_uc003mlb.3_Missense_Mutation_p.P125L|C5orf45_uc021yjh.1_Non-coding_Transcript	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	Homo sapiens chromosome 5 open reading frame 45 (C5orf45), transcript variant 1, mRNA.	259										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						AGCCTGTGCTGGACCAGCTGG	0.602000													7	41					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18889199	18889199	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:18889199A>T	uc021qvx.1	-	2	282	c.91T>A	c.(91-93)Tta>Ata	p.L31I	PLCZ1_uc001rdv.4_5'UTR|PLCZ1_uc001rdw.4_5'UTR|CAPZA3_uc001rdy.3_5'Flank	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	31					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)					CGAATATCTAATTTTTCAAGT	0.353000													6	29					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154557716	154557716	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:154557716G>A	uc001ffh.3	-	13	3662	c.3420C>T	c.(3418-3420)gaC>gaT	p.D1140D	ADAR_uc021pag.1_Silent_p.D845D|ADAR_uc001ffj.3_Silent_p.D1095D|ADAR_uc001ffi.3_Silent_p.D1114D|ADAR_uc001ffk.3_Silent_p.D845D	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	1140	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTCTGGTACCGTCCAGGATCT	0.542000													13	95					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118198839	118198839	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:118198839G>A	uc001two.2	-	3	931	c.876C>T	c.(874-876)cgC>cgT	p.R292R		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	321	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCGTCCACGCGGTGCCCCA	0.677000													14	63					0	0	1	0	0
BEND5	79656	broad.mit.edu	37	1	49224879	49224879	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:49224879G>A	uc001crx.4	-	2	482	c.438C>T	c.(436-438)aaC>aaT	p.N146N	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc010omy.1_Intron|AGBL4_uc001crv.1_Intron|BEND5_uc001crw.4_5'UTR	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	Homo sapiens BEN domain containing 5 (BEND5), mRNA.	146										large_intestine(5)|lung(2)|skin(1)	8						GGCTCAGGCCGTTCTGCTTCT	0.612000													4	8					0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225598067	225598067	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:225598067C>T	uc001hoy.3	-	9	1414	c.1240G>A	c.(1240-1242)Gct>Act	p.A414T	LBR_uc001hoz.3_Missense_Mutation_p.A414T	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	414					cholesterol biosynthetic process	integral to nuclear inner membrane	DNA binding|chromo shadow domain binding|delta14-sterol reductase activity|lamin binding|receptor activity	p.A414T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GATGGAACAGCGCGGTCCTGT	0.433000													15	75					0	0	1	0	0
BPNT1	10380	broad.mit.edu	37	1	220253160	220253160	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:220253160C>T	uc001hma.3	-	1	201	c.29G>A	c.(28-30)cGg>cAg	p.R10Q	RNU5F-1_uc021pjd.1_Intron|BPNT1_uc010pug.2_Intron|BPNT1_uc010puh.2_Missense_Mutation_p.R10Q	NM_006085	NP_006076	O95861	BPNT1_HUMAN	Homo sapiens 3'(2'), 5'-bisphosphate nucleotidase 1 (BPNT1), mRNA.	10					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		GGCTACCAACCGCATCAACAC	0.398000													4	34					0	0	1	0	0
AQP12B	653437	broad.mit.edu	37	2	241622317	241622317	+	Splice_Site	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:241622317C>T	uc010fzj.3	-	1	1	c.-62_splice	c.e1-1		AQP12B_uc002vzt.3_Non-coding_Transcript	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	Homo sapiens aquaporin 12B (AQP12B), mRNA.							integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CAGGAGCTGGCCGGTTCCCAC	0.672000													5	40					0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105215431	105215431	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:105215431G>A	uc001kxe.2	-	1	769	c.629C>T	c.(628-630)aCg>aTg	p.T210M	CALHM2_uc001kxd.1_5'Flank	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.	210						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GGCGGCCTGCGTGAAGCAGGG	0.612000													10	34					0	0	1	0	0
PDE7A	5150	broad.mit.edu	37	8	66753717	66753717	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:66753717T>C	uc003xvq.3	-	0	253	c.27A>G	c.(25-27)gtA>gtG	p.V9V	PDE7A_uc003xvr.3_Silent_p.V9V	NM_001242318	NP_001229247	Q13946	PDE7A_HUMAN	Homo sapiens phosphodiesterase 7A (PDE7A), transcript variant 3, mRNA.	9						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CCAGGGGCAGTACCGGCAGCT	0.731000													4	22					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58022502	58022502	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:58022502G>A	uc001spg.1	-	7	1428	c.996C>T	c.(994-996)ttC>ttT	p.F332F	B4GALNT1_uc010sru.2_Silent_p.F277F|B4GALNT1_uc010srv.2_Silent_p.F299F	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	332					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			ACACCTTGCCGAAGGGCATGA	0.617000													7	44					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1716527	1716527	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:1716527G>A	uc010uvh.2	+	14	2962	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	988						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GTCTTCAGACGAGGTGACGGG	0.582000													4	28					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128034367	128034367	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:128034367C>T	uc011kol.1	-	12	1594	c.1488G>A	c.(1486-1488)tcG>tcA	p.S496S	IMPDH1_uc011kom.1_Silent_p.S491S|IMPDH1_uc003vmt.2_Silent_p.S471S|IMPDH1_uc003vmu.2_Silent_p.S581S|IMPDH1_uc003vmx.2_Silent_p.S504S|IMPDH1_uc003vmy.2_Silent_p.S512S|IMPDH1_uc003vmw.2_Silent_p.S571S|IMPDH1_uc011kon.1_Silent_p.S548S|IMPDH1_uc003vmv.2_Silent_p.S545S|DQ596753_uc022akz.1_5'Flank|DQ595173_uc022ala.1_5'Flank	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	496					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)	CAATCTGGGCCGACATGGTCC	0.592000													11	36					0	0	1	0	0
TUBB7P	56604	broad.mit.edu	37	4	190905454	190905454	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:190905454G>A	uc011clg.2	-	2	235	c.17C>T	c.(16-18)tCg>tTg	p.S6L				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	78					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										GAAGGGCCCCGAGCGCACAGA	0.677000													25	97					0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748629	64748629	+	Missense_Mutation	SNP	G	G	A	rs148384415		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:64748629G>A	uc003jtp.3	-	4	1562	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	250	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCCACAAACCGTTCAATGCTC	0.418000													16	64					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8783876	8783876	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:8783876G>A	uc002knr.2	+	5	908	c.766G>A	c.(766-768)Gca>Aca	p.A256T	SOGA2_uc002knq.2_Missense_Mutation_p.A256T|SOGA2_uc010dkw.1_Missense_Mutation_p.A94T	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	607	Pro-rich.							p.A256T(1)									TCGGGACCACGCACCCAGCAT	0.652000													12	96					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682266	47682266	+	Missense_Mutation	SNP	C	C	T	rs145102054		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:47682266C>T	uc003oyz.1	+	6	1456	c.1456C>T	c.(1456-1458)Cgg>Tgg	p.R486W	GPR115_uc003oza.1_Missense_Mutation_p.R429W|GPR115_uc003ozb.1_Missense_Mutation_p.R429W|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	429					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L485L(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AGTGTGGTCCCGGGTGGTTGT	0.493000													16	69					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7405400	7405400	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7405400G>A	uc002ghf.4	+	14	2917	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	844	Bridging helix.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ATGGGGGGTCGTGAGGGGCTC	0.582000													4	23					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62078121	62078121	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:62078121C>T	uc002yey.1	-	1	543	c.366G>A	c.(364-366)tcG>tcA	p.S122S	KCNQ2_uc002yez.1_Silent_p.S122S|KCNQ2_uc002yfa.1_Silent_p.S122S|KCNQ2_uc002yfb.1_Silent_p.S122S|KCNQ2_uc011aax.1_Silent_p.S122S|KCNQ2_uc002yfc.1_Silent_p.S122S	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	122					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S122L(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGGCCCCCTCCGAGCTCTTCT	0.632000													6	39					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138707776	138707776	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:138707776C>T	uc004cgr.4	-	14	4347	c.4347G>A	c.(4345-4347)gcG>gcA	p.A1449A	CAMSAP1_uc004cgq.4_Silent_p.A1339A|CAMSAP1_uc010nbg.3_Silent_p.A1171A	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1449						cytoplasm|microtubule		p.A1449S(1)|p.T1448I(1)|p.A1449V(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ATGCCGCCGACGCGGTCTCCC	0.612000													7	79					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130911013	130911013	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:130911013G>A	uc002tqq.2	-	17	3170	c.2021C>T	c.(2020-2022)gCg>gTg	p.A674V	SMPD4_uc002tqo.2_Missense_Mutation_p.A206V|SMPD4_uc002tqp.2_Missense_Mutation_p.A413V|SMPD4_uc010yzy.2_Missense_Mutation_p.A423V|SMPD4_uc010yzz.2_Missense_Mutation_p.A338V|SMPD4_uc002tqs.2_Missense_Mutation_p.A542V|SMPD4_uc002tqr.2_Missense_Mutation_p.A645V|SMPD4_uc010zaa.2_Missense_Mutation_p.A532V|SMPD4_uc010zab.2_Missense_Mutation_p.A572V|SMPD4_uc002tqt.2_Missense_Mutation_p.A523V|SMPD4_uc010zac.2_Missense_Mutation_p.A415V|SMPD4_uc010zad.2_Missense_Mutation_p.A310V	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	635					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CCTGAGCTGCGCTTCGCTGAG	0.567000													14	54					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21903985	21903985	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:21903985C>T	uc001bet.3	+	11	1676	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	ALPL_uc010odo.2_Silent_p.G418G|ALPL_uc010odp.2_Silent_p.G396G|ALPL_uc010odn.2_Silent_p.G421G|ALPL_uc001beu.4_Silent_p.G473G	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	473			G -> S (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	TGCTGCACGGCGTCCACGAGC	0.687000													10	63					0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126794853	126794853	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:126794853C>T	uc010mwi.1	+	4	1851	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	LHX2_uc004boe.1_Missense_Mutation_p.T363M	NM_004789	NP_004780	P50458	LHX2_HUMAN	Homo sapiens LIM homeobox 2 (LHX2), mRNA.	363						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CCCTCCAGCACGCCCACCACC	0.657000													8	41					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35471598	35471598	+	Silent	SNP	C	C	T	rs145986072		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:35471598C>T	uc003okv.4	-	11	1152	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	TULP1_uc003okw.4_Silent_p.T327T|TULP1_uc021yyx.1_Silent_p.T380T	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	380					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TGTCAAAGACCGTGAAGCGGT	0.612000													5	15					0	0	1	0	0
TSTA3	7264	broad.mit.edu	37	8	144696973	144696973	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:144696973G>T	uc003yza.2	-	3	410	c.374C>A	c.(373-375)cCg>cAg	p.P125Q	TSTA3_uc003yzb.2_Missense_Mutation_p.P125Q|TSTA3_uc011lko.1_Missense_Mutation_p.P125Q	NM_003313	NP_003304	Q13630	FCL_HUMAN	Homo sapiens tissue specific transplantation antigen P35B (TSTA3), mRNA.	125					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|coenzyme binding|electron carrier activity|isomerase activity	p.P125L(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CTCATCTATCGGGTAGGTCGT	0.657000													8	65					0	0	1	0	0
LRRC29	26231	broad.mit.edu	37	16	67241597	67241597	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67241597C>T	uc002esd.3	-	3	1480	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	LRRC29_uc002ese.3_Missense_Mutation_p.A195T|LRRC29_uc002esf.3_Missense_Mutation_p.A195T|LRRC29_uc002esg.3_Missense_Mutation_p.A195T	NM_012163	NP_036295	Q8WV35	LRC29_HUMAN	Homo sapiens leucine rich repeat containing 29 (LRRC29), transcript variant 1, mRNA.	195										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CGTCTGACGGCGGCCATGTTG	0.647000													7	48					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49161296	49161296	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:49161296G>A	uc003cwe.3	-	23	3961	c.3662C>T	c.(3661-3663)aCg>aTg	p.T1221M	USP19_uc003cwb.3_5'Flank|USP19_uc003cvz.4_5'Flank|USP19_uc011bcg.2_5'Flank|USP19_uc011bch.2_5'Flank|USP19_uc003cwd.2_5'Flank|USP19_uc011bci.2_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	1221	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCACACCCGTCTGTTGCAA	0.632000													11	66					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74328942	74328942	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:74328942C>T	uc002skb.4	+	8	4622	c.4622C>T	c.(4621-4623)aCg>aTg	p.T1541M		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1541							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.T1541T(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACGCCACCACGCCGCTTAAG	0.662000													10	47					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26455002	26455002	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:26455002C>T	uc001isn.2	+	26	3366	c.3006C>T	c.(3004-3006)taC>taT	p.Y1002Y	MYO3A_uc009xko.1_Silent_p.Y1002Y|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1002	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			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						CAAGGTACTACCTTCTCTGCT	0.502000													28	136					0	0	1	0	0
NAE1	8883	broad.mit.edu	37	16	66852502	66852502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:66852502G>A	uc002eqf.3	-	7	627	c.550C>T	c.(550-552)Cga>Tga	p.R184*	NAE1_uc002eqe.3_Nonsense_Mutation_p.R178*|NAE1_uc002eqg.3_Nonsense_Mutation_p.R95*|NAE1_uc010cdv.3_Nonsense_Mutation_p.R187*|NAE1_uc010cdw.1_Nonsense_Mutation_p.R95*	NM_003905	NP_001018170	Q13564	ULA1_HUMAN	Homo sapiens NEDD8 activating enzyme E1 subunit 1 (NAE1), transcript variant 1, mRNA.	184					DNA replication|apoptosis|cell cycle|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTATCTAGTCGTAGATCCTCT	0.328000													3	20					0	0	1	0	0
PGBD4	161779	broad.mit.edu	37	15	34396266	34396266	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:34396266G>A	uc001zho.3	+	0	1993	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N	C15orf24_uc001zhm.3_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA.	512										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TCCTTGCTCCGATGATGTCAC	0.488000													4	29					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161039354	161039354	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:161039354C>T	uc001fxl.3	-	0	407	c.61G>A	c.(61-63)Gac>Aac	p.D21N	ARHGAP30_uc001fxk.3_Missense_Mutation_p.D21N|ARHGAP30_uc001fxm.3_5'UTR|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	21	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.C20C(1)		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)			TCCTGCAAGTCGCACCCAAAA	0.637000													19	73					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6292992	6292992	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:6292992C>T	uc003giy.3	+	4	695	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	WFS1_uc003gix.3_Missense_Mutation_p.R177C|WFS1_uc003giz.3_5'UTR	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	177					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAGGGCCGTGCGCAAGGCAGC	0.612000													13	55					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714575	138714575	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:138714575G>A	uc004cgr.4	-	10	1932	c.1932C>T	c.(1930-1932)cgC>cgT	p.R644R	CAMSAP1_uc004cgq.4_Silent_p.R534R|CAMSAP1_uc010nbg.3_Silent_p.R366R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	644						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TATTCAAGTCGCGACTGCCAG	0.587000													11	39					0	0	1	0	0
FAM108A1	81926	broad.mit.edu	37	19	1880951	1880951	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:1880951G>A	uc002luf.3	-	2	835	c.429C>T	c.(427-429)ggC>ggT	p.G143G	FAM108A1_uc002lud.3_Intron|FAM108A1_uc002lue.3_Intron|FAM108A1_uc002lug.3_Intron	NM_031213	NP_112490	Q96GS6	F18A1_HUMAN	Homo sapiens family with sequence similarity 108, member A1 (FAM108A1), transcript variant 1, mRNA.	95						extracellular region	hydrolase activity			endometrium(2)|kidney(1)|lung(4)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(11;0.000137)		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)		CCCAGCTCTTGCCCAGCAGGC	0.662000													5	35					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2273484	2273484	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:2273484C>T	uc003gex.2	-	10	2666	c.2346G>A	c.(2344-2346)gcG>gcA	p.A782A	ZFYVE28_uc011bvk.2_Silent_p.A712A|ZFYVE28_uc011bvl.2_Silent_p.A752A|ZFYVE28_uc003gew.2_Silent_p.A668A	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	782					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCTCCAAGGCCGCACTCCGCA	0.627000													29	139					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534702	16534702	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16534702T>C	uc001ayc.1	-	2	568	c.431A>G	c.(430-432)tAc>tGc	p.Y144C	ARHGEF19_uc009voo.1_5'Flank	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	144					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACGCTGGTACACCCGCAT	0.682000													6	36					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801068	67801068	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:67801068G>A	uc001vik.3	-	1	2197	c.1505C>T	c.(1504-1506)gCa>gTa	p.A502V	PCDH9_uc001vil.3_Missense_Mutation_p.A502V|PCDH9_uc010thl.2_Missense_Mutation_p.A502V|PCDH9_uc001vin.3_Missense_Mutation_p.A502V	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	502	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AACAATGTCTGCATTTTTCCC	0.423000													10	59					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67588988	67588988	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:67588988C>T	uc003jva.3	+	8	1659	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	PIK3R1_uc003jvc.3_Missense_Mutation_p.A60V|PIK3R1_uc003jvd.3_Missense_Mutation_p.A90V|PIK3R1_uc003jve.3_Missense_Mutation_p.A39V|PIK3R1_uc021xzn.1_5'UTR|PIK3R1_uc011crb.2_Missense_Mutation_p.A30V	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	360	SH2 1.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GTACGAGATGCGTCTACTAAA	0.368000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			3	24					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764615	140764615	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140764615C>T	uc003lka.2	+	0	2149	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lkb.4_5'Flank|PCDHGC5_uc003lkc.2_5'Flank|PCDHGC5_uc003ljz.1_Missense_Mutation_p.R717W	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	709					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.C716*(1)		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)			GCTCAGGCTGCGGCGCTGGCA	0.617000													7	46					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2582	2582	+	RNA	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrGL000237.1:2582C>T	uc011mgu.1	-	0		c.105G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		cagagcgagacgagccacggt	0.607000													4	16					0	0	1	0	0
ZMYND12	84217	broad.mit.edu	37	1	42915659	42915659	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:42915659C>T	uc001chj.3	-	1	452	c.182G>A	c.(181-183)cGc>cAc	p.R61H	ZMYND12_uc010ojt.2_Silent_p.A8A	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	Homo sapiens zinc finger, MYND-type containing 12 (ZMYND12), transcript variant 1, mRNA.	61						intracellular	zinc ion binding	p.L60L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATGGAAGTGCGCAGTGGAAT	0.517000													10	52					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23909565	23909565	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:23909565G>A	uc001uon.2	-	9	9039	c.8450C>T	c.(8449-8451)aCg>aTg	p.T2817M	SACS_uc001uoo.2_Missense_Mutation_p.T2670M|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.	2817					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)		AATTAGCCACGTAGTAAGATT	0.358000													5	39					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88277682	88277682	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:88277682G>A	uc001kdn.3	-	2	283	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	WAPAL_uc001kdo.3_Missense_Mutation_p.P49S|WAPAL_uc009xsw.3_Missense_Mutation_p.P49S|WAPAL_uc010qmh.1_Missense_Mutation_p.P49S|WAPAL_uc010qmi.1_Missense_Mutation_p.P86S|WAPAL_uc010qmj.1_Missense_Mutation_p.P49S	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	49	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTGAAATTGGGCCTCTTCTGC	0.403000													6	31					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52567427	52567427	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:52567427G>A	uc001rzw.3	-	2	944	c.893C>T	c.(892-894)gCg>gTg	p.A298V	KRT80_uc001rzy.3_Missense_Mutation_p.A263V|KRT80_uc001rzx.3_Missense_Mutation_p.A263V	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	263	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCTGCGAGCCGCGACGGCGTC	0.657000													19	89					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43708462	43708462	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:43708462C>T	uc001zrs.3	-	21	4967	c.4819G>A	c.(4819-4821)Gca>Aca	p.A1607T	TP53BP1_uc010udp.2_Missense_Mutation_p.A1607T|TP53BP1_uc001zrq.4_Missense_Mutation_p.A1612T|TP53BP1_uc001zrr.4_Missense_Mutation_p.A1612T|TP53BP1_uc010udq.1_Missense_Mutation_p.A1612T|TP53BP1_uc001zrp.3_Missense_Mutation_p.A24T	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1607					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGTGTTACTGCTTCATAGGGG	0.478000								Other conserved DNA damage response genes					10	57					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148886179	148886179	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:148886179C>T	uc003ilf.3	+	16	1455	c.1455C>T	c.(1453-1455)agC>agT	p.S485S	ARHGAP10_uc003ilg.3_Silent_p.S134S|ARHGAP10_uc003ilh.3_Silent_p.S66S	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	485	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		tGGAAGAAAGCGGCAGCCCAG	0.308000													4	14					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133909950	133909950	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:133909950G>A	uc003ytw.3	+	11	3099	c.3058G>A	c.(3058-3060)Gcc>Acc	p.A1020T	TG_uc010mdw.3_5'UTR	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1020	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGAGCATCCGCCCTTCTGCG	0.587000													20	78					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72829811	72829811	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72829811A>G	uc002fck.3	-	8	7443	c.6770T>C	c.(6769-6771)tTa>tCa	p.L2257S	ZFHX3_uc002fcl.3_Missense_Mutation_p.L1343S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2257					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGTCCTGTAAGACCCTCAG	0.493000													19	109					0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41774068	41774068	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:41774068G>A	uc003ori.3	-	3	876	c.654C>T	c.(652-654)gaC>gaT	p.D218D		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	218					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.D218N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ccgggcccgcgtcgcggggcg	0.771000													3	20					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233710483	233710483	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:233710483A>T	uc002vtj.4	+	27	3677	c.3410A>T	c.(3409-3411)gAa>gTa	p.E1137V	GIGYF2_uc002vti.4_Missense_Mutation_p.E1116V|GIGYF2_uc002vtk.4_Missense_Mutation_p.E1116V|GIGYF2_uc002vth.4_Missense_Mutation_p.E1110V|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc002vtq.4_Missense_Mutation_p.E449V	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	1116					cell death		protein binding	p.E1116V(2)|p.E1137V(2)		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)		AAGAAAGTAGAAGAAGAAGAA	0.378000													4	46					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411235	126411235	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:126411235T>C	uc003ifj.4	+	16	13258	c.13258T>C	c.(13258-13260)Tat>Cat	p.Y4420H	FAT4_uc011cgp.2_Missense_Mutation_p.Y2661H|FAT4_uc003ifi.1_Missense_Mutation_p.Y1897H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4420					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K4420fs*15(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAATCAGTGGTATGCCTACAG	0.577000													23	129					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48801323	48801323	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:48801323A>G	uc002pir.2	-	11	2008	c.1325T>C	c.(1324-1326)cTa>cCa	p.L442P	CCDC114_uc002piq.2_Missense_Mutation_p.L251P|CCDC114_uc002pio.3_Missense_Mutation_p.L479P|CCDC114_uc002pis.1_Missense_Mutation_p.L122P	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	442										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCCCAGCACTAGGAGGGCAGC	0.692000													15	57					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36927225	36927225	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:36927225G>A	uc022abv.1	-	17	2364	c.1654C>T	c.(1654-1656)Cgc>Tgc	p.R552C	ELMO1_uc003tfi.2_Missense_Mutation_p.R72C|ELMO1_uc003tfj.2_Missense_Mutation_p.R72C|ELMO1_uc011kbb.2_Intron|ELMO1_uc011kbc.2_Missense_Mutation_p.R456C|ELMO1_uc003tfk.2_Missense_Mutation_p.R552C|ELMO1_uc010kxg.2_Missense_Mutation_p.R552C	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	552					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.R552S(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CGGTTCAGGCGTTGCTGTTTG	0.473000													6	46					0	0	1	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026305	129026305	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:129026305G>A	uc002tpt.4	-	1	701	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S		NM_004807	NP_004798	O60243	H6ST1_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 1 (HS6ST1), mRNA.	223					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		TCGTAGCAGGGCGGCAGCTCC	0.657000													19	94					0	0	1	0	0
C14orf102	55051	broad.mit.edu	37	14	90754822	90754822	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:90754822G>A	uc001xyi.2	-	10	3130	c.2897C>T	c.(2896-2898)aCg>aTg	p.T966M	C14orf102_uc010atp.1_Missense_Mutation_p.T471M|C14orf102_uc001xyj.2_Missense_Mutation_p.T735M	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	966							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CAGCAGGCTCGTGTGCATCAG	0.537000													8	51					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145006673	145006673	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145006673G>A	uc003zaf.1	-	15	2453	c.2283C>T	c.(2281-2283)gcC>gcT	p.A761A	PLEC_uc003zab.1_Silent_p.A624A|PLEC_uc003zac.1_Silent_p.A628A|PLEC_uc003zad.2_Silent_p.A624A|PLEC_uc003zae.1_Silent_p.A592A|PLEC_uc003zag.1_Silent_p.A602A|PLEC_uc003zah.2_Silent_p.A610A|PLEC_uc003zaj.2_Silent_p.A651A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	761	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTAGTGGCGGCTGCCACAA	0.622000													17	70					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237395	30237395	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:30237395A>G	uc022buf.1	+	0	698	c.698A>G	c.(697-699)tAt>tGt	p.Y233C	MAGEB2_uc004dbz.3_Missense_Mutation_p.Y233C	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	233	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TTGGGAGTCTATGATGGAGAG	0.483000													3	9					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100170918	100170918	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:100170918G>A	uc002taf.3	-	22	3633	c.3489C>T	c.(3487-3489)aaC>aaT	p.N1163N	AFF3_uc002tag.3_Silent_p.N1138N	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	1138					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGGCGCTGGCGTTGGAGAGGC	0.637000													7	50					0	0	1	0	0
OR8U8	504189	broad.mit.edu	37	11	56143702	56143702	+	Silent	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:56143702C>A	uc001nit.2	+	0	603	c.603C>A	c.(601-603)gcC>gcA	p.A201A		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										GGATCTTTGCCTGTGCTGGTA	0.458000													13	74					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699169	17699169	+	Silent	SNP	C	C	T	rs141757356	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:17699169C>T	uc002grm.3	+	2	3376	c.2907C>T	c.(2905-2907)gaC>gaT	p.D969D	RAI1_uc002grn.1_Silent_p.D969D	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	969						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCACCTCGGACGCCTCTCTGG	0.622000													9	35					0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24545427	24545427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:24545427C>T	uc010tnv.2	+	11	1305	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	CPNE6_uc001wlm.3_Nonsense_Mutation_p.R157*|CPNE6_uc001wll.3_Nonsense_Mutation_p.R332*|CPNE6_uc001wln.3_5'UTR	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	332	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCTCAGTCCCCGACAGCCCAA	0.647000													11	32					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432601	73432601	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:73432601G>A	uc003dpl.1	-	9	3212	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	PDZRN3_uc011bgh.1_Missense_Mutation_p.T696M|PDZRN3_uc010hoe.1_Missense_Mutation_p.T737M|PDZRN3_uc021xaq.1_Missense_Mutation_p.T332M|PDZRN3_uc011bgf.1_Missense_Mutation_p.T756M|PDZRN3_uc011bgg.1_Missense_Mutation_p.T759M	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	1039							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCTTGGATCGTCATCCAGTT	0.433000													27	139					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76755234	76755234	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:76755234C>T	uc002lmt.3	+	1	3243	c.3243C>T	c.(3241-3243)ccC>ccT	p.P1081P	SALL3_uc010dra.3_Silent_p.P616P	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCCGCTGCCCGCGGGCGTCC	0.711000													6	20					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136509362	136509362	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:136509362C>T	uc004cel.3	+	4	953	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	315					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCAGAGGAAGCCGGCCTTGCC	0.602000													10	83					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179213981	179213981	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:179213981C>T	uc002uly.3	+	12	1637	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	OSBPL6_uc002ulw.3_Missense_Mutation_p.R309C|OSBPL6_uc002ulx.3_Missense_Mutation_p.R340C|OSBPL6_uc010zfe.2_Missense_Mutation_p.R309C|OSBPL6_uc002ulz.3_Missense_Mutation_p.R340C|OSBPL6_uc002uma.3_Missense_Mutation_p.R344C	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	340					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTCACCAGTTCGCTTGCATTC	0.423000													32	146					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222347370	222347370	+	Silent	SNP	G	G	A	rs147516232	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:222347370G>A	uc002vmq.3	-	4	1062	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	EPHA4_uc002vmr.2_Silent_p.N340N|EPHA4_uc010zlm.1_Silent_p.N281N	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	340	Fibronectin type-III 1.					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)		CAGATGTCTCGTTGACATTTG	0.463000													8	66					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134518638	134518638	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:134518638C>T	uc022bos.1	-	3	644	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	RAPGEF1_uc022bot.1_Missense_Mutation_p.R144Q|RAPGEF1_uc022bou.1_Missense_Mutation_p.R149Q|RAPGEF1_uc022bov.1_Missense_Mutation_p.R149Q	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	144					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)		GTGCTGAATTCGAGGATCGTT	0.507000													3	17					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101528929	101528929	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:101528929C>T	uc002bwr.3	+	4	843	c.524C>T	c.(523-525)aCg>aTg	p.T175M	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Missense_Mutation_p.T175M	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	175					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.T148M(2)|p.T175M(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGTCCTGACGCACGGGGCT	0.632000													15	67					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38557133	38557133	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:38557133C>T	uc002huq.3	-	20	2792	c.2633G>A	c.(2632-2634)cGt>cAt	p.R878H	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	878					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATCCATCAAACGCCTGATGTT	0.408000													34	154					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944144	144944144	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:144944144G>A	uc003zaa.1	-	0	3291	c.3278C>T	c.(3277-3279)aCg>aTg	p.T1093M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1093						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)			GGCATAGCTCGTGCGCCCCTG	0.637000													6	21					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	915194	915194	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:915194G>A	uc002fsd.3	-	18	2103	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	ABR_uc002fse.3_Missense_Mutation_p.R619W|ABR_uc010vqf.2_Missense_Mutation_p.R116W|ABR_uc010vqg.2_Missense_Mutation_p.R447W|ABR_uc002fsg.3_Missense_Mutation_p.R628W|ABR_uc002fsh.1_Intron|ABR_uc002fsf.3_Missense_Mutation_p.R202W	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	665	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACACACTGCCGGACGATGTAG	0.652000													12	87					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21330519	21330519	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:21330519G>A	uc002ztj.2	+	9	1041	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	LZTR1_uc002ztk.2_Missense_Mutation_p.V275M|LZTR1_uc002ztl.2_Missense_Mutation_p.V281M|LZTR1_uc011ahx.1_Missense_Mutation_p.V263M	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACAGTGGACGTGAGAACTAA	0.607000													3	17					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76510888	76510888	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:76510888G>A	uc010dhp.2	-	25	4206	c.4081C>T	c.(4081-4083)Cgc>Tgc	p.R1361C		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)			TGCCAGTGGCGTTCCCGAATG	0.652000													11	37					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110587185	110587185	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:110587185C>T	uc010mcp.3	-	7	2304	c.1942G>A	c.(1942-1944)Gtg>Atg	p.V648M	SYBU_uc003yni.4_Missense_Mutation_p.V645M|SYBU_uc003ynk.4_Missense_Mutation_p.V529M|SYBU_uc003ynj.4_Missense_Mutation_p.V648M|SYBU_uc010mco.3_Missense_Mutation_p.V647M|SYBU_uc003ynl.4_Missense_Mutation_p.V647M|SYBU_uc010mcq.3_Missense_Mutation_p.V648M|SYBU_uc003yno.4_Missense_Mutation_p.V529M|SYBU_uc010mcr.3_Missense_Mutation_p.V648M|SYBU_uc003ynm.4_Missense_Mutation_p.V647M|SYBU_uc003ynn.4_Missense_Mutation_p.V647M|SYBU_uc010mcs.3_Missense_Mutation_p.V529M|SYBU_uc010mct.3_Missense_Mutation_p.V648M|SYBU_uc010mcu.3_Missense_Mutation_p.V647M|SYBU_uc003ynp.4_Missense_Mutation_p.V580M|SYBU_uc010mcv.3_Missense_Mutation_p.V648M|SYBU_uc003ynh.4_Missense_Mutation_p.V442M|SYBU_uc011lhw.2_Missense_Mutation_p.V518M	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	648						Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane		p.V645M(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AGGGCAACCACGCAACAGCCC	0.577000													21	82					0	0	1	0	0
CDC25A	993	broad.mit.edu	37	3	48200920	48200920	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:48200920G>A	uc003csh.1	-	13	1712	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	CDC25A_uc003csi.1_Missense_Mutation_p.R410C|CDC25A_uc021wxk.1_Missense_Mutation_p.R409C	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	450	Rhodanese.				DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TTACCCAGGCGATCTCTCTCT	0.512000													11	57					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54886368	54886368	+	Silent	SNP	G	G	A	rs150684675		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:54886368G>A	uc002rxu.3	+	30	6570	c.6321G>A	c.(6319-6321)acG>acA	p.T2107T	SPTBN1_uc002rxx.3_Silent_p.T2094T|SPTBN1_uc002rxy.3_Silent_p.T252T|SPTBN1_uc010you.2_Silent_p.T97T	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	2107					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCCGAGCACGAAGGTTTCAG	0.567000													27	154					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12704657	12704657	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:12704657C>T	uc001auf.3	+	0	92	c.92C>T	c.(91-93)aCg>aTg	p.T31M		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	31						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)		TTCCTCACCACGGATATCCCT	0.527000													19	107					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118065	118065	+	RNA	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrGL000205.1:118065G>A	uc002kgk.4	+	0		c.1443G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGTTTTGCTCGGGGTCTGTTG	0.572000													6	67					0	0	1	0	0
FAM70B	348013	broad.mit.edu	37	13	114504726	114504726	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:114504726G>A	uc001vuh.3	+	6	637	c.610G>A	c.(610-612)Gtc>Atc	p.V204I		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	204						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			AGTTCTGAACGTCCTGGGCCT	0.672000													8	23					0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72744195	72744195	+	Missense_Mutation	SNP	G	G	A	rs3950376		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:72744195G>A	uc003tya.2	+	3	440	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.R98Q|FKBP6_uc010lbe.1_Non-coding_Transcript|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	103	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.R103Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGAGCATGCGGAGAGGAGAG	0.537000													9	34					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152674405	152674405	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:152674405G>A	uc021zhb.1	-	66	11469	c.11246C>T	c.(11245-11247)aCg>aTg	p.T3749M	SYNE1_uc003qot.4_Missense_Mutation_p.T3734M|SYNE1_uc003qou.4_Missense_Mutation_p.T3749M|SYNE1_uc010kja.2_Missense_Mutation_p.T454M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3749					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)		TACCTCCAACGTCTTCAATTT	0.423000										HNSCC(10;0.0054)			27	137					0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24442304	24442304	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:24442304T>C	uc002kwa.3	-	1	352	c.289A>G	c.(289-291)Aac>Gac	p.N97D	CHST9-AS1_uc002kwb.2_5'Flank|CHST9-AS1_uc010xbm.2_5'Flank|AQP4_uc002kvz.3_Missense_Mutation_p.N75D	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	97					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					ACTGCAGGGTTGATGTGGCCA	0.552000													19	72					0	0	1	0	0
PSRC1	84722	broad.mit.edu	37	1	109823608	109823608	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:109823608C>T	uc001dxj.3	-	4	931	c.785G>A	c.(784-786)cGc>cAc	p.R262H	PSRC1_uc001dxb.3_Missense_Mutation_p.R62H|PSRC1_uc001dxc.3_Missense_Mutation_p.R232H|PSRC1_uc001dxd.3_Missense_Mutation_p.R232H|PSRC1_uc001dxf.3_Intron	NM_032636	NP_116025	Q6PGN9	PSRC1_HUMAN	Homo sapiens proline/serine-rich coiled-coil 1 (PSRC1), transcript variant 1, mRNA.	262	Pro/Ser-rich.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CCGGGGCAGGCGTTGAGAGTT	0.637000													17	48					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52574746	52574746	+	Splice_Site	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:52574746A>G	uc001rzw.3	-	2	372	c.321_splice	c.e2-1	p.R107_splice	KRT80_uc001rzy.3_Splice_Site_p.R170_splice|KRT80_uc001rzx.3_Splice_Site_p.R170_splice	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	258	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TCATCCTCATACCTGGGAGGG	0.602000													9	33					0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6438670	6438670	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6438670G>A	uc001qnu.3	-	9	1479	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	TNFRSF1A_uc001qnt.3_Silent_p.N284N|TNFRSF1A_uc010sey.2_Silent_p.N160N|TNFRSF1A_uc010sez.2_Silent_p.N284N|TNFRSF1A_uc009zek.3_Silent_p.N349N	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	392	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GGCAGCGCCCGTTCTGCAGCT	0.701000													5	16					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139289316	139289316	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:139289316G>A	uc004chh.3	-	4	495	c.486C>T	c.(484-486)aaC>aaT	p.N162N		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	162					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTGTGTCCTCGTTGGCAGGTG	0.632000													4	36					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818171	7818171	+	Missense_Mutation	SNP	C	C	T	rs147652902		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:7818171C>T	uc001mfp.1	-	0	319	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E107K(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGACGCATTCGACTGTTGCA	0.493000													8	87					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40815315	40815315	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:40815315C>T	uc003ayv.1	-	8	1334	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	MKL1_uc010gyf.1_Missense_Mutation_p.R326H|MKL1_uc003ayw.1_Missense_Mutation_p.R376H|MKL1_uc010gye.1_Missense_Mutation_p.R376H	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	376	SAP.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCTCGAAGGCGCTCAATCAG	0.607000			T	RBM15	acute megakaryocytic leukemia								4	32					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65303716	65303716	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:65303716A>G	uc001dbu.1	-	21	3288	c.3039T>C	c.(3037-3039)agT>agC	p.S1013S	JAK1_uc009wam.1_Silent_p.S1013S|JAK1_uc009wal.1_Silent_p.S190S	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	1013	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.E1012fs*2(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CTTGGTGTTCACTCTCAACAA	0.458000			Mis		ALL								4	25					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27310662	27310662	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:27310662G>A	uc003xfn.2	+	32	3388	c.2580G>A	c.(2578-2580)ccG>ccA	p.P860P	PTK2B_uc022ate.1_Silent_p.P860P|PTK2B_uc003xfp.2_Silent_p.P860P|PTK2B_uc003xfq.2_Silent_p.P818P	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	860	Interaction with TGFB1I1 (By similarity).|Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGAAGCCCCCGAGGCTGGGCG	0.522000													8	49					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13839629	13839629	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:13839629C>T	uc003jfd.2	-	34	5760	c.5718G>A	c.(5716-5718)atG>atA	p.M1906I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1906	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTGATATGCATATGACACT	0.353000									Kartagener syndrome				7	33					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727927	137727927	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:137727927G>A	uc003lcy.1	+	7	2806	c.2606G>A	c.(2605-2607)cGg>cAg	p.R869Q	KDM3B_uc010jew.1_Missense_Mutation_p.R525Q|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	869					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CCCAAGGGCCGGCCTCGGACT	0.607000													8	52					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71216681	71216681	+	Silent	SNP	C	C	T	rs138594750	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:71216681C>T	uc001xmm.3	-	3	1119	c.1119G>A	c.(1117-1119)acG>acA	p.T373T	MAP3K9_uc010ttk.2_Silent_p.T110T|MAP3K9_uc001xmk.3_Silent_p.T67T|MAP3K9_uc001xml.3_Silent_p.T373T	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	373	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GTTCTGGGCACGTAGAAGGAA	0.517000													11	50					0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568534	140568534	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140568534G>A	uc003liw.1	+	1	1640	c.1640G>A	c.(1639-1641)cGc>cAc	p.R547H		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	548	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGTGCGCGTACTGGTG	0.711000													20	81					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141727771	141727771	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:141727771G>A	uc003yvu.3	-	22	2378	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	PTK2_uc011ljp.2_5'UTR|PTK2_uc003yvo.3_Missense_Mutation_p.R318C|PTK2_uc011ljq.2_Missense_Mutation_p.R385C|PTK2_uc003yvp.3_Missense_Mutation_p.R358C|PTK2_uc003yvq.3_Missense_Mutation_p.R216C|PTK2_uc003yvr.3_Missense_Mutation_p.R630C|PTK2_uc003yvs.3_Missense_Mutation_p.R690C|PTK2_uc011ljr.2_Missense_Mutation_p.R690C|PTK2_uc003yvt.3_Missense_Mutation_p.R712C|PTK2_uc003yvv.3_Missense_Mutation_p.R590C	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	690					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCCTCATGCGCTCTTCTTGC	0.552000													21	93					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11224018	11224018	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:11224018C>T	uc002mqk.4	+	8	1438	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	LDLR_uc010xlk.2_Silent_p.S417S|LDLR_uc010xll.2_Silent_p.S376S|LDLR_uc021upc.1_Silent_p.S296S|LDLR_uc010xln.2_Silent_p.S290S|LDLR_uc010xlo.2_Silent_p.S249S|LDLR_uc010xlm.2_Silent_p.S270S|LDLR_uc021upd.1_Silent_p.S154S	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	417					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TGGACCGGAGCGAGTACACCA	0.612000													7	36					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636372	73636372	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:73636372T>C	uc001vje.3	+	1	959	c.635T>C	c.(634-636)cTt>cCt	p.L212P	KLF5_uc001vjd.3_Missense_Mutation_p.L121P	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA.	212					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AAACAAGAACTTCCTACACCA	0.512000													8	43					0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156825203	156825203	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:156825203C>T	uc003ipf.1	+	1	133	c.69C>T	c.(67-69)agC>agT	p.S23S		NM_005651	NP_005642	P48775	T23O_HUMAN	Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	23					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TAGAAGGCAGCGAAGAAGACA	0.393000													4	30					0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79634892	79634892	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:79634892C>T	uc004ako.1	+	0	322	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	Homo sapiens forkhead box B2 (FOXB2), mRNA.	108					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						GCGTCGCAAGCGCTTCAAGGT	0.692000													11	44					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43221327	43221327	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:43221327C>T	uc003ouq.1	+	4	631	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	118	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGCCGACCTGCGCCGTAGCCA	0.627000													10	30					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580623	15580623	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:15580623G>A	uc002nbg.3	-	3	1594	c.1461C>T	c.(1459-1461)acC>acT	p.T487T	PGLYRP2_uc002nbf.4_Silent_p.T487T	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	487					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCAGCGCCGCGGTGTAGTTGC	0.731000													3	5					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150297487	150297487	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:150297487G>A	uc001eum.4	+	1	249	c.87G>A	c.(85-87)acG>acA	p.T29T	PRPF3_uc009wlo.3_Silent_p.T29T|PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.2_5'UTR|PRPF3_uc010pcb.2_Silent_p.T29T	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	29	PWI.				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	p.P28H(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CAGAGCCTACGGTGGTCACAG	0.478000													17	64					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103297267	103297267	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:103297267G>A	uc001vpi.4	+	18	2404	c.2301G>A	c.(2299-2301)tcG>tcA	p.S767S		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	767					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	p.S767S(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCATGCATCGGAAGGAATCA	0.353000													5	34					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	6925365	6925365	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:6925365G>A	uc011bwg.2	+	1	328	c.249G>A	c.(247-249)gcG>gcA	p.A83A	TBC1D14_uc003gjs.4_Silent_p.A83A	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	83						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CCTGCAGCGCGGTCCACGTGA	0.652000													19	79					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	20005830	20005830	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:20005830G>A	uc001bcl.3	+	2	1759	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q		NM_000871	NP_000862	P50406	5HT6R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA.	431					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CCCGAGCTGCGGCCGCATCCA	0.682000													3	12					0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124422261	124422261	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:124422261C>T	uc001ufw.1	-	4	487	c.340G>A	c.(340-342)Gcg>Acg	p.A114T	CCDC92_uc001ufv.1_Missense_Mutation_p.A97T|CCDC92_uc001ufx.1_Missense_Mutation_p.A114T	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	114										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GTGATCATCGCGTTTTTCTGC	0.468000													22	145					0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103343363	103343363	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:103343363G>A	uc001ktg.1	-	4	1733	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_Missense_Mutation_p.R15W|POLL_uc001kth.1_Missense_Mutation_p.R48W|POLL_uc001ktj.2_Missense_Mutation_p.R323W|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Missense_Mutation_p.R231W|POLL_uc001kti.2_Missense_Mutation_p.R323W|POLL_uc001ktl.3_Missense_Mutation_p.R235W|POLL_uc001ktm.3_Missense_Mutation_p.R323W|POLL_uc010qqc.2_Missense_Mutation_p.R15W|POLL_uc010qqa.2_Missense_Mutation_p.R62W|POLL_uc010qqd.2_3'UTR	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	323					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		TCCAGCTTCCGCAAATGCCCG	0.562000								DNA polymerases (catalytic subunits)					15	50					0	0	1	0	0
ZNF419	79744	broad.mit.edu	37	19	58005261	58005261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:58005261C>T	uc010ety.1	+	4	1579	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	ZNF419_uc002qov.2_Nonsense_Mutation_p.R446*|ZNF419_uc010etz.1_Nonsense_Mutation_p.R434*|ZNF419_uc002qow.2_Nonsense_Mutation_p.R414*|ZNF419_uc010eua.1_Nonsense_Mutation_p.R433*|ZNF419_uc010eub.1_Nonsense_Mutation_p.R401*|ZNF419_uc010euc.1_Nonsense_Mutation_p.R400*	NM_001098491	NP_001091961	Q96HQ0	ZN419_HUMAN	Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA.	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R421*(1)|p.R414*(1)		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)		CATGCAACATCGAAAAGTTCA	0.433000													16	91					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18976421	18976421	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:18976421G>A	uc002nkg.3	+	21	3379	c.3104G>A	c.(3103-3105)cGc>cAc	p.R1035H	UPF1_uc002nkf.3_Missense_Mutation_p.R1024H|UPF1_uc002nkh.3_Missense_Mutation_p.R279H	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	1035					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CAGAAGAACCGCTTTGGGCTT	0.652000													24	143					0	0	1	0	0
BAGE	574	broad.mit.edu	37	21	11058322	11058322	+	Splice_Site	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:11058322C>T	uc002yiu.1	-	3	317	c.117_splice	c.e3-1	p.L39_splice	BAGE_uc002yit.1_Splice_Site_p.L39_splice|BAGE_uc002yiv.1_Splice_Site|BAGE_uc002yiw.1_Non-coding_Transcript	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.	39						extracellular region								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383000													13	103					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56658551	56658551	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:56658551T>C	uc003did.4	-	21	4357	c.4256A>G	c.(4255-4257)aAc>aGc	p.N1419S	FAM208A_uc003dib.4_Missense_Mutation_p.N538S|FAM208A_uc003dic.4_Missense_Mutation_p.N1043S|FAM208A_uc003die.4_Missense_Mutation_p.N1480S	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	Homo sapiens family with sequence similarity 208, member A (FAM208A), transcript variant 2, mRNA.	1480										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						CTGTGGAAGGTTTTCTTCTGT	0.378000													10	67					0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69177376	69177376	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:69177376G>A	uc002sfa.3	-	2	195	c.86C>T	c.(85-87)cCa>cTa	p.P29L	GKN2_uc002sfb.4_Missense_Mutation_p.P29L	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	Homo sapiens gastrokine 2 (GKN2), mRNA.	29						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						ATTGTTGCTTGGGCTGATGAT	0.353000													7	22					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229797	39229797	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:39229797G>A	uc003cjk.2	-	1	1369	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S	XIRP1_uc003cji.3_Silent_p.S380S|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.S380S	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	380							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)		GCCACAGGGTGGAGCGGACAT	0.592000													27	165					0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23720487	23720487	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:23720487C>T	uc021oig.1	-	7	839	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	TCEA3_uc009vqm.2_Missense_Mutation_p.R4Q	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	235	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		CACGCGGTTCCGGTACTTCAT	0.627000													6	42					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26359747	26359747	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:26359747A>G	uc001blf.3	+	7	2326	c.1459A>G	c.(1459-1461)Acc>Gcc	p.T487A		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	487					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCCATATAGCACCATCAGAAC	0.567000													5	51					0	0	1	0	0
VEGFA	7422	broad.mit.edu	37	6	43748503	43748503	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:43748503C>T	uc003owh.3	+	5	1495	c.997C>T	c.(997-999)Cga>Tga	p.R333*	VEGFA_uc003owd.3_Intron|VEGFA_uc010jyx.3_Intron|VEGFA_uc003owf.3_Nonsense_Mutation_p.R333*|VEGFA_uc003owg.3_Nonsense_Mutation_p.R333*|VEGFA_uc003owe.3_Intron|VEGFA_uc021yzu.1_Nonsense_Mutation_p.R332*|VEGFA_uc003owj.3_Intron|VEGFA_uc003owi.3_Intron|VEGFA_uc003owk.3_Intron	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	153					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GGGGCAAAAACGAAAGCGCAA	0.532000													11	72					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895240	45895240	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:45895240C>A	uc002pbn.3	-	7	1790	c.1713G>T	c.(1711-1713)gaG>gaT	p.E571D	PPP1R13L_uc002pbm.3_Missense_Mutation_p.E150D|PPP1R13L_uc002pbo.3_Missense_Mutation_p.E571D	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	571	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCTCAGATCCCTCAGTGATGG	0.692000													10	48					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234846109	234846109	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:234846109G>A	uc002vvh.3	+	3	344	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Missense_Mutation_p.A52T|TRPM8_uc002vvj.3_Missense_Mutation_p.A25T	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	102						integral to membrane		p.D101N(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCCTACCGACGCCTTTGGGGA	0.478000													8	111					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116984538	116984538	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:116984538C>T	uc011lxl.2	+	13	2457	c.2457C>T	c.(2455-2457)ccC>ccT	p.P819P	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	819	Collagen-like 4.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTGGAGTCCCCGGCCTCATTG	0.637000													25	74					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158483059	158483059	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:158483059G>A	uc003qqx.2	+	7	1096	c.990G>A	c.(988-990)acG>acA	p.T330T	SYNJ2_uc011efm.2_Intron|SYNJ2_uc003qqw.2_Silent_p.T330T|SYNJ2_uc003qqy.2_Silent_p.T93T|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Silent_p.T279T|SYNJ2_uc003qqz.2_5'UTR	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	330	SAC.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGGGCGACACGCCTATGATCA	0.562000													27	169					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101840561	101840561	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:101840561C>T	uc003uys.4	+	14	2030	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.R624C	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	624					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCTGGCCCTCCGTAGCATCCA	0.572000													10	51					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190173	233190173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:233190173G>A	uc001hvl.2	-	24	4427	c.4192C>T	c.(4192-4194)Cag>Tag	p.Q1398*	PCNXL2_uc001hvk.1_Nonsense_Mutation_p.Q50*|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1398						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGACTCCTGGAGGGTCCTT	0.438000													5	30					0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84215231	84215231	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:84215231G>A	uc002fhn.3	-	8	1315	c.1073C>T	c.(1072-1074)tCg>tTg	p.S358L	TAF1C_uc010vnz.2_Missense_Mutation_p.S26L|TAF1C_uc002fho.3_5'UTR|TAF1C_uc010voa.2_Missense_Mutation_p.S26L|TAF1C_uc002fhm.3_Missense_Mutation_p.S265L|TAF1C_uc010vnx.2_Missense_Mutation_p.S332L|TAF1C_uc010vny.2_5'UTR|TAF1C_uc010vob.2_Missense_Mutation_p.S332L	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	358					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GACGGCTCCCGAGCGGCTGCA	0.657000													9	24					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50224121	50224121	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:50224121C>T	uc003cyj.3	+	17	2087	c.1889C>T	c.(1888-1890)tCg>tTg	p.S630L	SEMA3F_uc003cyk.3_Missense_Mutation_p.S599L	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	630	Ig-like C2-type.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAGCCCCGCTCGCCCCAAGCC	0.622000													5	31					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41700463	41700463	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:41700463C>T	uc002opw.3	+	1	247	c.192C>T	c.(190-192)taC>taT	p.Y64Y	CYP2S1_uc010xvx.2_5'UTR	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	64					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GTAAGAAGTACGGACCGGTGT	0.617000													7	44					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303248	53303248	+	Missense_Mutation	SNP	C	C	T	rs139889621	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:53303248C>T	uc002qad.3	-	3	2007	c.1850G>A	c.(1849-1851)cGt>cAt	p.R617H	ZNF28_uc002qac.3_Missense_Mutation_p.R563H|ZNF28_uc010eqe.3_Missense_Mutation_p.R563H|ZNF28_uc021uza.1_Missense_Mutation_p.R564H	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGATGTCTGACGGAAGGTCTT	0.463000													21	137					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49391305	49391305	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49391305C>T	uc001rsv.1	-	1	1372	c.1354G>A	c.(1354-1356)Gtc>Atc	p.V452I		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	452	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ATGACAAAGACGCCTTCCCCA	0.642000													16	94					0	0	1	0	0
IQCF2	389123	broad.mit.edu	37	3	51897158	51897158	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:51897158G>A	uc003dbt.1	+	2	305	c.267G>A	c.(265-267)cgG>cgA	p.R89R	IQCF1_uc003dbq.4_Intron|IQCF2_uc003dbu.1_Non-coding_Transcript	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN	Homo sapiens IQ motif containing F2 (IQCF2), mRNA.	89								p.R89W(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAAGAAACGGCAGGCAGCTC	0.612000													8	42					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5755633	5755633	+	Silent	SNP	G	G	A	rs112861104	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:5755633G>A	uc003gil.1	+	9	1621	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	479					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AGGCCCAGCCGACTGCTGACC	0.602000													8	39					0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140866040	140866040	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:140866040C>T	uc003ett.3	+	2	996	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	SPSB4_uc010hum.3_3'UTR	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	251	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GGCCCTGGGCCGCCAGCGCCT	0.617000													7	29					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513671	61513671	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61513671C>T	uc002ydr.2	-	15	3949	c.3637G>A	c.(3637-3639)Gaa>Aaa	p.E1213K	DIDO1_uc002yds.2_Missense_Mutation_p.E1213K	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1213					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCCGCTTTTCGTCCATCTTG	0.493000													21	73					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56487295	56487295	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56487295C>T	uc001sjh.3	+	11	1717	c.1441C>T	c.(1441-1443)Cga>Tga	p.R481*	ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Nonsense_Mutation_p.R422*|ERBB3_uc009zok.3_5'Flank|ERBB3_uc001sjk.3_5'Flank|ERBB3_uc001sjj.1_Nonsense_Mutation_p.R49*	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	481					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TACGGAAGAGCGACTAGACAT	0.547000													9	63					0	0	1	0	0
RHBDL3	162494	broad.mit.edu	37	17	30625115	30625115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:30625115G>T	uc010csx.1	+	5	687	c.673G>T	c.(673-675)Gaa>Taa	p.E225*	RHBDL3_uc002hhe.1_Nonsense_Mutation_p.E225*|RHBDL3_uc010csw.1_Nonsense_Mutation_p.E217*|RHBDL3_uc010csy.1_Nonsense_Mutation_p.E127*|RHBDL3_uc002hhf.1_Nonsense_Mutation_p.E127*			P58872	RHBL3_HUMAN	Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.	225					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TCACAGGATAGAACACCTGGG	0.522000													12	80					0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97078469	97078469	+	Silent	SNP	G	G	A	rs149195544		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:97078469G>A	uc021rcc.1	+	7	1113	c.1035G>A	c.(1033-1035)gcG>gcA	p.A345A				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	345								p.A345A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AAGTTCAGGCGTTGCATTCAC	0.323000													10	46					0	0	1	0	0
PATZ1	23598	broad.mit.edu	37	22	31723224	31723224	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:31723224C>T	uc003akq.3	-	4	2378	c.1717G>A	c.(1717-1719)Gac>Aac	p.D573N	PATZ1_uc003akp.3_3'UTR|PATZ1_uc003akr.3_Missense_Mutation_p.D527N	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA.	573					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GTCTTCAGGTCGCTGGCATCT	0.498000													12	51					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134981778	134981778	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:134981778G>A	uc001llz.1	+	2	323	c.322G>A	c.(322-324)Gtt>Att	p.V108I	KNDC1_uc001lma.1_Missense_Mutation_p.V43I	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	108	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGTGCCTTCGTTCCCCCCGA	0.592000													9	147					0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005552	1005552	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:1005552G>A	uc002lqo.1	+	3	2052	c.2052_splice	c.e3+1	p.K684_splice		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	684					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ACGACCCCAAGGTGGGCGGCC	0.701000													5	17					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552513	140552513	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140552513T>C	uc003lit.3	+	0	271	c.97T>C	c.(97-99)Tat>Cat	p.Y33H		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	33					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R32W(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGCTTCGGTATTTTGTGGC	0.517000													11	42					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49168460	49168460	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:49168460G>A	uc003cwe.3	-	6	1137	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	LAMB2_uc003cwf.1_Missense_Mutation_p.R280C	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	280	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGTTGCCACGTACAACCAGC	0.592000													16	65					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3856144	3856144	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:3856144G>A	uc003zhx.1	-	8	3051	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	GLIS3_uc010mhf.1_Missense_Mutation_p.R174W|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.R625W|GLIS3_uc003zhy.1_Missense_Mutation_p.R558W	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	625					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGAACTCTCCGGGGGCTGATG	0.463000													6	22					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68675744	68675744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:68675744C>T	uc001ook.1	+	2	490	c.388C>T	c.(388-390)Cga>Tga	p.R130*	IGHMBP2_uc001ooj.1_Non-coding_Transcript	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	130					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAGCTTGGACCGAGAGAATTC	0.507000													13	74					0	0	1	0	0
TMEM161A	54929	broad.mit.edu	37	19	19243195	19243195	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:19243195C>G	uc002nlg.3	-	4	439	c.409G>C	c.(409-411)Gtg>Ctg	p.V137L	TMEM161A_uc002nli.3_Intron	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.	137					cellular response to UV|cellular response to oxidative stress|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CACCAGAACACAGCAATGTTA	0.587000													11	93					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78320969	78320969	+	Missense_Mutation	SNP	G	G	A	rs76918558		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:78320969G>A	uc002jyh.2	+	29	9124	c.8981G>A	c.(8980-8982)cGc>cAc	p.R2994H	RNF213_uc021uen.1_Missense_Mutation_p.R2945H	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)			GTGTGTAAGCGCCAGGACAAG	0.532000													4	18					0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1743283	1743283	+	Silent	SNP	C	C	T	rs151095769	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:1743283C>T	uc004cqd.3	+	3	582	c.366C>T	c.(364-366)gaC>gaT	p.D122D	ASMT_uc010ncy.3_Silent_p.D122D|ASMT_uc004cqe.3_Silent_p.D122D	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	122					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity	p.A121V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTGGCAGACGCCGTGAGGT	0.672000													10	56					0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	2105390	2105390	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:2105390G>T	uc001aiq.3	+	13	1501	c.1340G>T	c.(1339-1341)gGg>gTg	p.G447V	PRKCZ_uc001air.3_Missense_Mutation_p.G264V|PRKCZ_uc010nyw.2_Missense_Mutation_p.G343V|PRKCZ_uc001ais.3_Missense_Mutation_p.G264V|PRKCZ_uc010nyx.2_Non-coding_Transcript|PRKCZ_uc001ait.3_Missense_Mutation_p.G295V	NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA.	447	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		ATGATGGCCGGGCGCTCCCCG	0.627000											OREG0013007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	91					0	0	1	0	0
NT5C2	22978	broad.mit.edu	37	10	104859733	104859733	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:104859733G>A	uc001kwo.3	-	8	776	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	NT5C2_uc010qqp.2_Missense_Mutation_p.R166W|NT5C2_uc001kwq.3_Missense_Mutation_p.R195W|NT5C2_uc001kwp.3_Missense_Mutation_p.R42W	NM_012229	NP_036361	P49902	5NTC_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic II (NT5C2), transcript variant 1, mRNA.	195					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	AACATACTCCGGTAGGACATG	0.393000													10	87					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169629715	169629715	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:169629715G>A	uc003qwt.3	-	14	2459	c.2211C>T	c.(2209-2211)ggC>ggT	p.G737G		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	737					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACAGGCATCGCCAATCCCGT	0.527000													16	83					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61288118	61288118	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61288118C>T	uc002ydb.1	+	1	517	c.312C>T	c.(310-312)ggC>ggT	p.G104G		NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	104					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CGCCCAAGGGCATCCTGTTCT	0.647000													3	17					0	0	1	0	0
TRAPPC6B	122553	broad.mit.edu	37	14	39623467	39623467	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:39623467C>T	uc001wut.1	-	3	634	c.299G>A	c.(298-300)cGc>cAc	p.R100H	TRAPPC6B_uc001wuu.1_Intron|TRAPPC6B_uc001wuv.1_Non-coding_Transcript|TRAPPC6B_uc010tqd.1_Missense_Mutation_p.R38H	NM_001079537	NP_001073005	Q86SZ2	TPC6B_HUMAN	Homo sapiens trafficking protein particle complex 6B (TRAPPC6B), transcript variant 1, mRNA.	100					vesicle-mediated transport	Golgi apparatus|endoplasmic reticulum	guanylate cyclase activity|heme binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		AGTAAGCAGGCGAAATTTGTT	0.333000													4	11					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34171788	34171788	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:34171788T>C	uc002hkd.3	+	14	1571	c.1485T>C	c.(1483-1485)ggT>ggC	p.G495G	TAF15_uc002hkc.3_Silent_p.G492G	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	495	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gaggctatggtggagaccgag	0.602000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								4	19					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70420167	70420167	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:70420167G>A	uc001xlt.2	+	2	578	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	SMOC1_uc001xls.2_Missense_Mutation_p.R99Q	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	99	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.R99W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGCCTGGAGCGGGCTCAAGCC	0.562000													30	99					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22172692	22172692	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:22172692G>A	uc009vqd.3	-	63	8416	c.8376C>T	c.(8374-8376)taC>taT	p.Y2792Y	HSPG2_uc001bfj.3_Silent_p.Y2791Y	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2791	Ig-like C2-type 13.				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)	CCCGGCACACGTATTCACCCG	0.652000													9	45					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468529	66468529	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:66468529C>T	uc001ojd.3	-	15	3113	c.3041G>A	c.(3040-3042)cGg>cAg	p.R1014Q		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1014					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTCGCCCACCCGGGCGGCGAT	0.701000													9	53					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74392306	74392306	+	Silent	SNP	G	G	A	rs139988070	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:74392306G>A	uc002jrm.4	-	13	2777	c.2712C>T	c.(2710-2712)agC>agT	p.S904S	UBE2O_uc002jrn.4_Silent_p.S904S|UBE2O_uc002jrl.4_Silent_p.S508S	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	904							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCGGGGTTTCGCTGGGCCACT	0.627000													15	80					0	0	1	0	0
FOXD2	2306	broad.mit.edu	37	1	47904283	47904283	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:47904283G>A	uc001crm.3	+	0	2595	c.476G>A	c.(475-477)gGc>gAc	p.G159D		NM_004474	NP_004465	O60548	FOXD2_HUMAN	Homo sapiens forkhead box D2 (FOXD2), mRNA.	159					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		TTCATCAGCGGCCGCTTCCCC	0.617000													24	85					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47808995	47808995	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:47808995T>C	uc002leq.4	-	14	2672	c.1939A>G	c.(1939-1941)Act>Gct	p.T647A	MBD1_uc002leg.3_5'Flank|MBD1_uc010dow.2_5'Flank|MBD1_uc010xdi.2_5'Flank|MBD1_uc010xdj.2_5'Flank|MBD1_uc002lel.4_5'Flank|MBD1_uc002len.3_5'Flank|MBD1_uc002leh.4_5'Flank|MBD1_uc002lei.4_5'Flank|MBD1_uc002lej.4_5'Flank|MBD1_uc002lek.4_5'Flank|MBD1_uc002lem.4_5'Flank|MBD1_uc021ukd.1_5'Flank|MBD1_uc021uke.1_5'Flank|MBD1_uc010xdk.2_5'Flank|MBD1_uc010dox.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.4_Missense_Mutation_p.T504A|CXXC1_uc002ler.4_Missense_Mutation_p.T651A|CXXC1_uc010doy.3_3'UTR	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	647					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding	p.L646F(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						AGGTCGGTAGTGAGGGGATCG	0.662000													17	103					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226551700	226551700	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:226551700C>T	uc001hqd.4	-	19	2901	c.2730G>A	c.(2728-2730)acG>acA	p.T910T		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	910	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding	p.T910T(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTCCCTGAGACGTATGGCAGT	0.498000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					14	49					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148875783	148875783	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:148875783G>A	uc011kum.2	+	6	975	c.834G>A	c.(832-834)tcG>tcA	p.S278S	ZNF398_uc011kul.2_Silent_p.S102S|ZNF398_uc003wfl.3_Silent_p.S273S	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	273					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTAGATCCTCGTTGTGCCCTG	0.463000													21	140					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408141	130408141	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:130408141C>T	uc004ewe.4	-	18	4089	c.3806G>A	c.(3805-3807)cGa>cAa	p.R1269Q	IGSF1_uc004ewd.3_Missense_Mutation_p.R1264Q|IGSF1_uc022cdv.1_Missense_Mutation_p.R1255Q|IGSF1_uc004ewf.2_Missense_Mutation_p.R1244Q	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1264					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TAGGCTACTTCGGACAATGTT	0.517000													23	64					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140744399	140744399	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140744399C>T	uc003lju.2	+	0	502	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	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_uc011das.2_Missense_Mutation_p.R168W	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	168	Cadherin 2.				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)			GAACTCTCTCCGGAGTTACCA	0.512000													3	26					0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103504506	103504506	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:103504506C>T	uc001vpu.2	+	9	1611	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	BIVM-ERCC5_uc010tjb.2_Missense_Mutation_p.R43W|BIVM-ERCC5_uc001vpw.3_Missense_Mutation_p.R43W|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_5'UTR	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	468					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										TAAAGGAGTCCGGGATCGCCA	0.378000													11	26					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100390836	100390836	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:100390836G>A	uc003pqh.1	-	3	891	c.576C>T	c.(574-576)gaC>gaT	p.D192D	MCHR2_uc003pqi.1_Silent_p.D192D	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	192						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGAGTACATCGTCAGGGGATG	0.413000													6	58					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130021608	130021608	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:130021608G>A	uc003vpx.3	+	2	357	c.285G>A	c.(283-285)tcG>tcA	p.S95S	CPA1_uc011kpf.1_Silent_p.S7S|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	95					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACGTGCAGTCGCTGCTGGACG	0.612000											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	40					0	0	1	0	0
MFGE8	4240	broad.mit.edu	37	15	89453092	89453092	+	Nonsense_Mutation	SNP	G	G	A	rs141213799		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:89453092G>A	uc002bng.4	-	1	249	c.136C>T	c.(136-138)Cga>Tga	p.R46*	MFGE8_uc002bnf.4_5'UTR|MFGE8_uc002bnh.4_Nonsense_Mutation_p.R46*|MFGE8_uc010bnn.3_Nonsense_Mutation_p.R38*|MFGE8_uc010upq.2_Intron|MFGE8_uc010bno.3_Intron	NM_005928	NP_005919	Q08431	MFGM_HUMAN	Homo sapiens milk fat globule-EGF factor 8 protein (MFGE8), transcript variant 1, mRNA.	46	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			p.V45V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACATCTCCTCGCACTTCTTGG	0.532000													15	104					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51095820	51095820	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:51095820C>A	uc003tps.3	-	10	3329	c.3144G>T	c.(3142-3144)caG>caT	p.Q1048H	COBL_uc003tpr.4_Missense_Mutation_p.Q991H|COBL_uc011kcl.2_Missense_Mutation_p.Q991H|COBL_uc003tpp.4_Missense_Mutation_p.Q777H|COBL_uc003tpq.4_Missense_Mutation_p.Q932H|COBL_uc003tpo.4_Missense_Mutation_p.Q533H	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	991								p.G1047S(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AACCACAGCTCTGTCCCACAG	0.552000													10	50					0	0	1	0	0
HIST1H2AH	85235	broad.mit.edu	37	6	27115008	27115008	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:27115008T>C	uc003niz.3	+	0	101	c.101T>C	c.(100-102)cTg>cCg	p.L34P	HIST1H2BK_uc003nix.2_5'Flank|Histone3_uc021yox.1_5'Flank|HIST1H2BK_uc021yoy.1_5'Flank|MIR3143_uc021yoz.1_5'Flank	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN	Homo sapiens histone cluster 1, H2ah (HIST1H2AH), mRNA.	34					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L34R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GTGCACCGCCTGCTCCGCAAG	0.652000													9	48					0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583505	145583505	+	Missense_Mutation	SNP	C	C	A	rs117500243	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145583505C>A	uc003zcc.2	+	2	517	c.353C>A	c.(352-354)gCc>gAc	p.A118D	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Missense_Mutation_p.A118D|SLC52A2_uc010mfy.2_Missense_Mutation_p.A118D|SLC52A2_uc011llc.2_Missense_Mutation_p.A30D|SLC52A2_uc003zcd.2_Missense_Mutation_p.A118D	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	118						integral to plasma membrane	receptor activity|riboflavin transporter activity										TTAGCACTGGCCTTTGTGCTG	0.592000													6	90					0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74655813	74655813	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:74655813G>A	uc002sle.3	-	7	1019	c.902C>T	c.(901-903)gCa>gTa	p.A301V	RTKN_uc002slc.3_Missense_Mutation_p.A288V|RTKN_uc002sld.3_Missense_Mutation_p.A251V	NM_001015055	NP_001015056	Q9BST9	RTKN_HUMAN	Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA.	301					Rho protein signal transduction|apoptosis|regulation of anti-apoptosis	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						AGGCTGAGCTGCCAGACGGCA	0.627000													3	24					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256285	63256285	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:63256285C>T	uc011cqt.2	-	0	1262	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	421					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCATCACTGGCGGCAGAACTT	0.483000													31	142					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51329944	51329944	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:51329944T>C	uc002ptl.3	-	3	582	c.551A>G	c.(550-552)tAc>tGc	p.Y184C	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.3_Intron|KLK15_uc002ptn.3_Intron|KLK15_uc002pto.3_Missense_Mutation_p.Y183C|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Intron|KLK15_uc010eod.3_Intron	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	184	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GCGCCCTGGGTAGCTCTTGTC	0.567000													19	79					0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489181	237489181	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:237489181G>A	uc021vys.1	+	0	73	c.73G>A	c.(73-75)Gac>Aac	p.D25N	CXCR7_uc010fyq.3_Missense_Mutation_p.D25N|CXCR7_uc002vwd.3_Missense_Mutation_p.D25N	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	25					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		CAACAGCAGCGACTGCATCGT	0.522000													8	32					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156105740	156105740	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:156105740C>T	uc001fni.2	+	5	1234	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	LMNA_uc001fnf.1_Missense_Mutation_p.R329C|LMNA_uc001fng.2_Missense_Mutation_p.R329C|LMNA_uc001fnh.2_Missense_Mutation_p.R329C|LMNA_uc009wro.1_Missense_Mutation_p.R329C|LMNA_uc010pgz.1_Missense_Mutation_p.R217C|LMNA_uc001fnj.2_Missense_Mutation_p.R248C|LMNA_uc001fnk.2_Missense_Mutation_p.R230C|LMNA_uc009wrp.3_Silent_p.P56P|LMNA_uc010pha.1_5'UTR	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	329	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CTCACTGGCCCGTGAGCGGGA	0.657000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				9	32					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38302558	38302558	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:38302558G>A	uc010gnb.3	-	5	2586	c.1172C>T	c.(1171-1173)gCt>gTt	p.A391V	HLCS_uc021wjb.1_Missense_Mutation_p.A391V|HLCS_uc002yvs.3_Missense_Mutation_p.A391V|HLCS_uc010gnc.2_Missense_Mutation_p.A538V	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	391					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CACCTCCGCAGCTGACAGCAA	0.498000													8	51					0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834854	61834854	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61834854C>T	uc002yeh.3	-	3	732	c.438G>A	c.(436-438)gcG>gcA	p.A146A	YTHDF1_uc011aaq.2_Silent_p.A96A	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	146										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TGCTCCCATACGCGGAGCTCT	0.592000													4	35					0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095639	145095639	+	Missense_Mutation	SNP	G	G	A	rs140635744		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145095639G>A	uc011lkw.2	+	2	1039	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	SPATC1_uc011lkx.2_Missense_Mutation_p.A313T	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	313										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCAGTGCCGCCCAGGAACA	0.672000													6	38					0	0	1	0	0
PEX7	5191	broad.mit.edu	37	6	137191048	137191048	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:137191048G>A	uc003qhd.3	+	6	756	c.654G>A	c.(652-654)gcG>gcA	p.A218A	PEX7_uc010kgx.3_Non-coding_Transcript	NM_000288	NP_000279	O00628	PEX7_HUMAN	Homo sapiens peroxisomal biogenesis factor 7 (PEX7), mRNA.	218			A -> V (in RCDP1).		ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	p.A218A(2)|p.G217W(1)		lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TGACCGGGGCGGTTGACTGTA	0.403000													28	158					0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	170987609	170987609	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:170987609T>C	uc003isr.3	-	9	1325	c.983A>G	c.(982-984)aAc>aGc	p.N328S	AADAT_uc003iss.3_Missense_Mutation_p.N328S|AADAT_uc003ist.3_Missense_Mutation_p.N332S	NM_016228	NP_872603	Q8N5Z0	AADAT_HUMAN	Homo sapiens aminoadipate aminotransferase (AADAT), transcript variant 1, mRNA.	328					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATCCTTCTGGTTACTATAGAA	0.403000													9	29					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153920995	153920995	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:153920995G>T	uc021pab.1	-	12	1959	c.1800C>A	c.(1798-1800)ttC>ttA	p.F600L	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Missense_Mutation_p.F136L	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	600					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	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)			TCTGGTGGTTGAAGGTGTGGG	0.592000													6	50					0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217297570	217297570	+	Silent	SNP	C	C	T	rs139469074		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:217297570C>T	uc002vgc.4	+	7	1794	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	SMARCAL1_uc002vgd.4_Silent_p.S488S|SMARCAL1_uc010fvg.3_Silent_p.S488S	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	488	Helicase ATP-binding.				DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGCCATCCTCCGTGCGCTTCA	0.517000									Schimke Immuno-Osseous Dysplasia				18	70					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185184670	185184670	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:185184670G>A	uc010hyf.3	+	10	1853	c.1562G>A	c.(1561-1563)cGt>cAt	p.R521H	MAP3K13_uc011brt.2_Missense_Mutation_p.R314H|MAP3K13_uc011bru.2_Missense_Mutation_p.R377H|MAP3K13_uc003fpi.3_Missense_Mutation_p.R521H|MAP3K13_uc010hyg.3_Missense_Mutation_p.R211H	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	521					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding	p.R521H(2)|p.R521C(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CACCCTGTTCGTCCTATCATC	0.488000													8	54					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526076	176526076	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:176526076G>A	uc001gkz.3	+	1	1782	c.618G>A	c.(616-618)gcG>gcA	p.A206A	PAPPA2_uc001gky.1_Silent_p.A206A|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	206					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R205P(2)|p.R205W(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGAGGCGGGCGGAAGATGGGC	0.567000													23	101					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43481010	43481010	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:43481010C>T	uc002lbm.3	-	25	4697	c.4597G>A	c.(4597-4599)Gcc>Acc	p.A1533T	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.A87T|EPG5_uc002lbn.2_Missense_Mutation_p.A408T	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	1533					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGCTGGGTGGCGTCCTTCTGA	0.567000													5	45					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149460505	149460505	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:149460505G>A	uc003lrl.3	-	1	327	c.132C>T	c.(130-132)ggC>ggT	p.G44G	CSF1R_uc011dcd.2_5'UTR|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.G44G|CSF1R_uc011dce.1_Silent_p.G44G|CSF1R_uc011dcf.2_Silent_p.G44G	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	44	Ig-like C2-type 1.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CGCTGCCATTGCCCACACATC	0.592000													8	46					0	0	1	0	0
LIM2	3982	broad.mit.edu	37	19	51890427	51890427	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:51890427G>A	uc002pwl.2	-	1	315	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	LIM2_uc002pwm.2_Intron	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	58					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		tctttgagccgcagagttctc	0.622000													4	15					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162729671	162729671	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:162729671G>A	uc001gcf.3	+	8	1222	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	DDR2_uc001gcg.3_Missense_Mutation_p.G253S	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	253					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CGTGTGGCCCGGCTATGACTA	0.527000													18	56					0	0	1	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57243663	57243663	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:57243663T>C	uc010rjt.2	+	2	542	c.542T>C	c.(541-543)cTg>cCg	p.L181P		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	Homo sapiens reticulon 4 receptor-like 2 (RTN4RL2), mRNA.	181					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTGGCCAACCTGAGCCACCTC	0.667000													31	115					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56459552	56459552	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:56459552G>A	uc002qmh.3	+	0	355	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	NLRP8_uc010etg.3_Missense_Mutation_p.R95Q	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	95	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCCCTGGACGACGCGCTTGG	0.507000													6	38					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1805423	1805423	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:1805423C>T	uc003gdr.3	+	7	1191	c.935C>T	c.(934-936)gCg>gTg	p.A312V	FGFR3_uc003gdu.2_Intron|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.A312V|FGFR3_uc010icb.1_Missense_Mutation_p.A120V|FGFR3_uc003gdt.1_Missense_Mutation_p.A141V	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	312	Ig-like C2-type 3.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.T311fs*55(2)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TTGTAGACGGCGGGCGCTAAC	0.612000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				5	23					0	0	1	0	0
RAB17	64284	broad.mit.edu	37	2	238494711	238494711	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:238494711G>A	uc002vwz.2	-	1	750	c.87C>T	c.(85-87)tcC>tcT	p.S29S	RAB17_uc002vxb.2_Non-coding_Transcript	NM_022449	NP_071894	Q9H0T7	RAB17_HUMAN	Homo sapiens RAB17, member RAS oncogene family (RAB17), transcript variant 1, mRNA.	29					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		ACTTACCCACGGAGCCACTTC	0.602000													16	57					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92146659	92146659	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:92146659T>C	uc003uly.3	-	4	1266	c.1170A>G	c.(1168-1170)ggA>ggG	p.G390G	PEX1_uc011khr.2_Silent_p.G182G|PEX1_uc010ley.3_Silent_p.G390G|PEX1_uc011khs.2_Intron|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	390					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTCTTCAAGTCCATTCCAGA	0.358000													10	43					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589310	136589310	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:136589310C>T	uc003qgx.1	-	9	2640	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	BCLAF1_uc011edb.1_Missense_Mutation_p.R124Q|BCLAF1_uc003qgy.1_Missense_Mutation_p.R794Q|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R794Q|BCLAF1_uc003qgw.1_Missense_Mutation_p.R623Q	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	796					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)		AAAGGTTCCTCGTGGTCGGCT	0.358000													6	76					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231299693	231299693	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:231299693C>T	uc009xfn.1	+	0	1020	c.978C>T	c.(976-978)tgC>tgT	p.C326C		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	326						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTTATCTGTGCCTGGAGGAGG	0.652000													3	12					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49049664	49049664	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:49049664G>A	uc003cvj.2	+	1	925	c.787G>A	c.(787-789)Gtt>Att	p.V263I	WDR6_uc011bbx.1_Missense_Mutation_p.V134I|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.V207I|WDR6_uc011bbz.1_Missense_Mutation_p.V182I	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	233					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		AGACCGAAGCGTTCGTATCTG	0.577000													24	111					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405754	1405754	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:1405754C>T	uc009xhq.3	-	2	872	c.546G>A	c.(544-546)gcG>gcA	p.A182A		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	182	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.A181T(1)|p.A181A(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTGCCAGCTCCGCCGCGCGCA	0.711000													5	28					0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126687	19126687	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:19126687C>T	uc002dfu.4	+	0	1434	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	ITPRIPL2_uc002dft.3_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 2 (ITPRIPL2), transcript variant 1, mRNA.	302						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CGGCTGCTGCCGCCTTTCTAT	0.662000											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	69					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031878	26031878	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:26031878T>C	uc003nfs.1	-	0	411	c.411A>G	c.(409-411)taA>taG	p.*137*		NM_003537	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3b (HIST1H3B), mRNA.	0					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GACTTTACATTTACGCTCTTT	0.438000													10	44					0	0	1	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66526538	66526538	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:66526538T>G	uc002jhg.3	+	10	1274	c.1094T>G	c.(1093-1095)aTc>aGc	p.I365S	PRKAR1A_uc002jhh.3_Missense_Mutation_p.I365S|PRKAR1A_uc002jhi.3_Missense_Mutation_p.I365S|PRKAR1A_uc002jhj.3_Missense_Mutation_p.I365S|PRKAR1A_uc002jhk.3_Missense_Mutation_p.I241S|PRKAR1A_uc002jhl.3_Missense_Mutation_p.I365S	NM_212471	NP_997637	P10644	KAP0_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA.	365					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TGCTCAGACATCCTCAAACGA	0.512000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				15	63					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91433508	91433508	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:91433508G>A	uc002bpv.3	+	9	1355	c.1236_splice	c.e9+1	p.S412_splice	FES_uc010uqj.2_Splice_Site_p.S354_splice|FES_uc010uqk.2_Splice_Site_p.S394_splice|FES_uc002bpx.3_Splice_Site_p.S412_splice|FES_uc002bpy.3_Splice_Site_p.S354_splice|FES_uc010bny.3_Splice_Site_p.S354_splice	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	412					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CGTCGTCCTCGGTGAGCTGCC	0.726000													4	22					0	0	1	0	0
CDKN2B	1030	broad.mit.edu	37	9	22006196	22006196	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:22006196G>A	uc003zpo.3	-	1	567	c.207C>T	c.(205-207)ggC>ggT	p.G69G	MTAP_uc003zpi.1_Intron|MTAP_uc010miw.1_Intron|CDKN2B-AS1_uc022bed.1_Intron|CDKN2B-AS1_uc022bee.1_Intron|CDKN2B-AS1_uc010mix.1_Intron|CDKN2B-AS1_uc022bef.1_Intron|MTAP_uc003zpm.3_Intron|MTAP_uc022bek.1_Intron|CDKN2B-AS1_uc022beg.1_Intron|CDKN2B-AS1_uc022beh.1_Intron|CDKN2B-AS1_uc022bei.1_Intron|CDKN2B-AS1_uc022bej.1_Intron|CDKN2B-AS1_uc022bel.1_Intron|CDKN2B-AS1_uc022bem.1_Intron|CDKN2B-AS1_uc022ben.1_Intron|CDKN2B_uc003zpn.3_3'UTR	NM_004936	NP_004927	P42772	CDN2B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B), transcript variant 1, mRNA.	69					G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|cell cycle arrest|cellular response to nutrient|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		TGGGCTCCGCGCCGTGGAGCA	0.692000													7	32					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117374650	117374650	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:117374650C>T	uc001prh.1	-	10	2451	c.2449G>A	c.(2449-2451)Gtc>Atc	p.V817I		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	757	Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTCTAGGACGTGGCGGATC	0.617000													11	50					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203082	140203082	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140203082C>T	uc003lhl.2	+	0	1722	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	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_uc003lhk.1_Silent_p.G574G|PCDHAC2_uc003lhj.1_Silent_p.G574G	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	588	Cadherin 5.				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)			GCACCGGCGGCGCAGTGAGCG	0.682000													8	99					0	0	1	0	0
B4GALT2	8704	broad.mit.edu	37	1	44450661	44450661	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:44450661G>A	uc010okl.2	+	3	837	c.761G>A	c.(760-762)cGc>cAc	p.R254H	B4GALT2_uc001clg.3_Missense_Mutation_p.R225H|B4GALT2_uc001clh.3_Missense_Mutation_p.R159H|B4GALT2_uc001cli.3_Missense_Mutation_p.R225H	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	225					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding	p.F254C(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	ATGGATGACCGCAACCTATAC	0.597000													6	31					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089434	86089434	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:86089434G>A	uc021rxf.1	+	0	1576	c.1576G>A	c.(1576-1578)Gcg>Acg	p.A526T	FLRT2_uc001xvr.3_Missense_Mutation_p.A526T|FLRT2_uc010atd.3_Missense_Mutation_p.A526T	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	526					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAGCAACACAGCGTCCAGCCA	0.572000													19	124					0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129974998	129974998	+	Splice_Site	SNP	C	C	T	rs149497407	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:129974998C>T	uc004bqo.2	+	16	1713	c.1446_splice	c.e16+1	p.H482_splice	RALGPS1_uc011mac.2_Splice_Site_p.H440_splice|RALGPS1_uc004bqq.4_Splice_Site_p.H440_splice	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 1 (RALGPS1), transcript variant 1, mRNA.	482	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.H440H(1)|p.H482H(1)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACAGAAAACACGTAAGTCCCT	0.552000													4	29					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3781218	3781218	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:3781218G>A	uc002cvv.3	-	29	5351	c.5147C>T	c.(5146-5148)aCg>aTg	p.T1716M	CREBBP_uc002cvw.3_Missense_Mutation_p.T1678M	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1716	Interaction with TRERF1.				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)		GTGCCAGCGCGTCTCCACGTG	0.657000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						11	53					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15535752	15535752	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:15535752G>A	uc002nbc.3	-	5	2246	c.2223C>T	c.(2221-2223)ggC>ggT	p.G741G	WIZ_uc002nba.4_Silent_p.G608G|WIZ_uc002nbb.4_Silent_p.G567G	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1424						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ACTCGGTCACGCCGAACTGCC	0.657000													3	8					0	0	1	0	0
ZNF880	400713	broad.mit.edu	37	19	52887682	52887682	+	Silent	SNP	T	T	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:52887682T>A	uc002pzc.3	+	3	898	c.849T>A	c.(847-849)ctT>ctA	p.L283L	ZNF880_uc021uyu.1_Silent_p.L283L|ZNF880_uc021uyv.1_5'Flank	NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	Homo sapiens zinc finger protein 880 (ZNF880), mRNA.	283					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						ATTCTCACCTTGCAAATCATC	0.408000													5	19					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80121119	80121119	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:80121119C>T	uc002kdx.1	-	12	2034	c.1997G>A	c.(1996-1998)aGa>aAa	p.R666K	CCDC57_uc010dik.1_Missense_Mutation_p.R174K|CCDC57_uc002kdz.1_Missense_Mutation_p.R666K	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	666										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GAGCTGCACTCTGTCCCCGAG	0.597000													33	152					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20418789	20418789	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:20418789C>T	uc003suu.3	+	3	1209	c.504C>T	c.(502-504)tcC>tcT	p.S168S	ITGB8_uc011jyh.2_Silent_p.S33S|ITGB8_uc003sut.3_Silent_p.S168S	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	168	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.S168S(6)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AATTAAATTCCGTTGGAAACG	0.338000													7	22					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55315748	55315748	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:55315748G>A	uc002lgw.3	-	27	3848	c.3728C>T	c.(3727-3729)gCg>gTg	p.A1243V	LOC100505549_uc002lgu.2_Intron|LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	1243					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CCTGTACTCCGCGGTGCCATC	0.617000													13	47					0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40433346	40433346	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:40433346G>A	uc001cev.3	+	9	1278	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	MFSD2A_uc010ojb.1_Missense_Mutation_p.R314Q|MFSD2A_uc001ceu.3_Missense_Mutation_p.R353Q|MFSD2A_uc010ojc.2_Missense_Mutation_p.R197Q|MFSD2A_uc009vvy.3_Intron	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	366					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTCTTGACCCGGTTTGGCAAG	0.542000													13	63					0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936817	119936817	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:119936817T>C	uc003yon.4	-	4	1325	c.1002A>G	c.(1000-1002)atA>atG	p.I334M		NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	334	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity	p.R333*(1)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CGCCATTTTTTATTCGCCACA	0.453000													19	115					0	0	1	0	0
PCGF2	7703	broad.mit.edu	37	17	36895857	36895857	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:36895857C>T	uc002hqp.1	-	3	437	c.191G>A	c.(190-192)cGg>cAg	p.R64Q		NM_007144	NP_009075	P35227	PCGF2_HUMAN	Homo sapiens polycomb group ring finger 2 (PCGF2), mRNA.	64					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R64W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					CAGCAGCGGCCGGGTTTTATG	0.612000													13	84					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16279025	16279025	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:16279025C>T	uc003nbs.3	+	5	672	c.558C>T	c.(556-558)tgC>tgT	p.C186C		NM_006877	NP_006868	P36959	GMPR1_HUMAN	Homo sapiens guanosine monophosphate reductase (GMPR), mRNA.	186					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GTTCTGTGTGCACCACCCGCA	0.547000													5	51					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13649582	13649582	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:13649582G>A	uc011avc.2	+	2	1709	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	FBLN2_uc011auz.2_Missense_Mutation_p.E469K|FBLN2_uc011avb.2_Missense_Mutation_p.E443K|FBLN2_uc011ava.2_Missense_Mutation_p.E443K	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	443	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGACCTGATCGAGACTTGCTG	0.572000													2	2					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372583	175372583	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:175372583G>A	uc001gkp.1	-	1	750	c.669C>T	c.(667-669)agC>agT	p.S223S	TNR_uc009wwu.1_Silent_p.S223S|TNR_uc010pmz.1_Silent_p.S223S	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	223	Cys-rich.|EGF-like 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S223S(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGCTGTACTCGCTGTCACAGA	0.627000													28	119					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1636274	1636274	+	Nonsense_Mutation	SNP	C	C	T	rs2179381	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:1636274C>T	uc010nyt.1	-	12	1635	c.1527G>A	c.(1525-1527)tgG>tgA	p.W509*	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_5'UTR|CDK11B_uc009vkp.3_Intron|CDK11B_uc009vkq.3_Intron|CDK11B_uc009vkr.3_Intron|CDK11B_uc009vks.3_Intron|CDK11B_uc010nys.2_Intron			P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 1, mRNA.	0	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GCACCCGGCCCCAGGACAGCA	0.622000													5	35					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29585178	29585178	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:29585178G>A	uc001bru.3	+	2	496	c.367G>A	c.(367-369)Gtt>Att	p.V123I	PTPRU_uc009vtq.3_Missense_Mutation_p.V123I|PTPRU_uc009vtr.3_Missense_Mutation_p.V123I|PTPRU_uc001brw.3_Missense_Mutation_p.V123I	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	123	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.R122C(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTACGTGCGCGTTAATGGGGG	0.627000													18	124					0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7329864	7329864	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7329864T>C	uc002ggw.3	+	2	627	c.554T>C	c.(553-555)cTg>cCg	p.L185P	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	185						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GATTCCTACCTGGAGGAGGAG	0.587000													16	99					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46745250	46745250	+	Missense_Mutation	SNP	C	C	T	rs28363251		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:46745250C>T	uc001cpn.3	-	7	2101	c.2057G>A	c.(2056-2058)cGc>cAc	p.R686H	LRRC41_uc010omb.2_Missense_Mutation_p.R686H	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	686										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TTGGGCTGGGCGCTTCTCAAA	0.557000													18	123					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8612974	8612974	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:8612974G>A	uc002mkg.3	-	11	1353	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	405	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						TCTCATTGACGAAGTTGATGC	0.552000													26	161					0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	136969760	136969760	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:136969760G>A	uc010jek.3	-	11	1860	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	KLHL3_uc011cyc.2_Silent_p.Y207Y|KLHL3_uc003lbr.4_Silent_p.Y390Y|KLHL3_uc011cyd.2_Intron|KLHL3_uc010jel.1_Silent_p.Y207Y	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	472						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)		TGTCCGCCACGTATATCCATT	0.537000													13	83					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045766	42045766	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:42045766G>A	uc001cgz.4	-	3	5916	c.4703C>T	c.(4702-4704)cCg>cTg	p.P1568L	HIVEP3_uc001cha.4_Missense_Mutation_p.P1568L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1568					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CAGAGAGCTCGGAGGTGCCAA	0.557000													14	61					0	0	1	0	0
CYB5R1	51706	broad.mit.edu	37	1	202932250	202932250	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:202932250T>G	uc001gyt.2	-	7	760	c.689A>C	c.(688-690)cAg>cCg	p.Q230P	CYB5R1_uc010pqe.1_Non-coding_Transcript	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	Homo sapiens cytochrome b5 reductase 1 (CYB5R1), mRNA.	230					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			ATAGCGGGCCTGCAGTTCCTC	0.483000													9	55					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152718084	152718084	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:152718084C>T	uc021zhb.1	-	47	7605	c.7382G>A	c.(7381-7383)aGc>aAc	p.S2461N	SYNE1_uc003qot.4_Missense_Mutation_p.S2468N|SYNE1_uc003qou.4_Missense_Mutation_p.S2461N|SYNE1_uc010kjb.1_Missense_Mutation_p.S2444N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2461					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)		ATCAAGTTTGCTCTGCCCATC	0.383000										HNSCC(10;0.0054)			4	45					0	0	1	0	0
FOXC1	2296	broad.mit.edu	37	6	1612173	1612173	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:1612173C>T	uc003mtp.3	+	0	1493	c.1493C>T	c.(1492-1494)cCg>cTg	p.P498L		NM_001453	NP_001444	Q12948	FOXC1_HUMAN	Homo sapiens forkhead box C1 (FOXC1), mRNA.	498					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	DNA bending activity|chromatin DNA binding|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			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GCAGGCTACCCGGGCCAGCAG	0.657000													2	2					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49236609	49236609	+	Silent	SNP	G	G	A	rs139735596	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:49236609G>A	uc010zyt.2	-	2	434	c.183C>T	c.(181-183)taC>taT	p.Y61Y	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.Y57Y|FAM65C_uc002xvn.1_Silent_p.Y57Y	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	57										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGCGTGCCGTACATCTTGG	0.547000													10	76					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73559543	73559543	+	Splice_Site	SNP	C	C	T	rs141041567	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:73559543C>T	uc002joh.3	+	8	980	c.826_splice	c.e8+1	p.G276_splice	LLGL2_uc002jog.1_Splice_Site_p.G276_splice|LLGL2_uc010dgf.1_Splice_Site_p.G276_splice|LLGL2_uc002joi.3_Splice_Site_p.G276_splice|LLGL2_uc010dgg.2_Splice_Site_p.G276_splice|LLGL2_uc002joj.3_Splice_Site_p.G265_splice|LLGL2_uc010wsd.2_5'Flank|AF289551_uc002jok.3_5'Flank	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	276					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCGTGCCTTACGGTCAGTGTT	0.647000													10	44					0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1561136	1561136	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:1561136C>T	uc004cpx.2	-	1	305	c.168G>A	c.(166-168)ggG>ggA	p.G56G	CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Silent_p.G56G|ASMTL_uc011mhe.2_Missense_Mutation_p.G2D|ASMTL_uc011mhf.2_5'UTR	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	56	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCATGGCGTACCCATACGGAG	0.567000													16	90					0	0	1	0	0
B4GALT1	2683	broad.mit.edu	37	9	33135375	33135375	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:33135375C>T	uc003zsg.2	-	1	649	c.460G>A	c.(460-462)Gtg>Atg	p.V154M		NM_001497	NP_001488	P15291	B4GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 (B4GALT1), mRNA.	154					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|Golgi trans cisterna|basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|integral to membrane	N-acetyllactosamine synthase activity|alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	TGCTTTGCCACGAGCTCCAGG	0.587000													4	24					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45888875	45888875	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:45888875G>A	uc002pbn.3	-	10	2270	c.2193C>T	c.(2191-2193)ttC>ttT	p.F731F	PPP1R13L_uc002pbm.3_Silent_p.F310F|PPP1R13L_uc002pbo.3_Silent_p.F731F	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	731					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGCACTTCTCGAAGGCGGTGG	0.677000													7	36					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17221564	17221564	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:17221564C>T	uc002dfa.3	-	9	2267	c.2182G>A	c.(2182-2184)Gca>Aca	p.A728T		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	728					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTGGGCTTGCGATCTTGAAG	0.488000													26	133					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33992853	33992853	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:33992853G>A	uc001bxm.1	-	64	10354	c.10177C>T	c.(10177-10179)Cgg>Tgg	p.R3393W	CSMD2_uc001bxn.1_Missense_Mutation_p.R3249W	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3249						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)				CCACTGGGCCGGACCTCTGCT	0.517000													9	38					0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32814903	32814903	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:32814903G>A	uc003ocg.3	-	9	2317	c.2162C>T	c.(2161-2163)cCg>cTg	p.P721L	PSMB8_uc003ocf.3_5'Flank|TAP1_uc011dqi.2_Missense_Mutation_p.P460L	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	721	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	TAP complex|cytosol|plasma membrane	ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						AAGTACACACGGTTTCCGGAT	0.557000													16	78					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112604725	112604725	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:112604725G>A	uc002thi.3	-	15	2089	c.1842C>T	c.(1840-1842)acC>acT	p.T614T		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	614					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTAACTCAGAGGTGGCAATTT	0.328000													11	23					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91769602	91769602	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:91769602G>A	uc002bqv.3	+	2	1000	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	SV2B_uc002bqt.3_Missense_Mutation_p.E37K|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Intron	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	37					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGATGTCACCGAAGGCCATGA	0.537000													12	58					0	0	1	0	0
NUDT14	256281	broad.mit.edu	37	14	105639420	105639420	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:105639420C>T	uc010tyn.2	-	4	721	c.607G>A	c.(607-609)Ggc>Agc	p.G203S	NUDT14_uc001yqi.3_Non-coding_Transcript	NM_177533	NP_803877	O95848	NUD14_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 14 (NUDT14), mRNA.	203	Nudix hydrolase.					cytoplasm	UDP-sugar diphosphatase activity|metal ion binding|protein binding			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AAGATGACGCCGAGGGTCTTG	0.627000										HNSCC(42;0.11)			5	54					0	0	1	0	0
C11orf2	738	broad.mit.edu	37	11	64877312	64877312	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:64877312G>A	uc001ocr.1	+	6	1835	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.D475N	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	599					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						GGAGACTCGCGACTGGCTCAG	0.657000													4	15					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10255194	10255194	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:10255194C>T	uc003bve.1	+	5	826	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	250	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	p.S249L(1)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CAGGATCAATCGAAAGATTCT	0.463000													7	52					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3215102	3215102	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:3215102G>A	uc002klp.3	-	1	454	c.120C>T	c.(118-120)acC>acT	p.T40T	MYOM1_uc002klq.3_Silent_p.T40T	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	40						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGAGCCCTGGGTGTAGACGG	0.677000													14	40					0	0	1	0	0
RGS16	6004	broad.mit.edu	37	1	182569617	182569617	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:182569617G>A	uc001gpl.4	-	4	573	c.419C>T	c.(418-420)aCg>aTg	p.T140M		NM_002928	NP_002919	O15492	RGS16_HUMAN	Homo sapiens regulator of G-protein signaling 16 (RGS16), mRNA.	140	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GTTCATCCTCGTCAGCTCGTG	0.592000													12	62					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27216198	27216198	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:27216198T>C	uc001bnd.1	-	0	672	c.390A>G	c.(388-390)caA>caG	p.Q130Q	BC016143_uc021ojq.1_Intron	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	Homo sapiens GPN-loop GTPase 2 (GPN2), mRNA.	130							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						ACTGCGCCATTTGGGAGAAGA	0.647000													16	78					0	0	1	0	0
GFOD2	81577	broad.mit.edu	37	16	67709621	67709621	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67709621C>T	uc002eub.3	-	2	890	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	GFOD2_uc002euc.3_Missense_Mutation_p.G94R|GFOD2_uc002eua.1_Non-coding_Transcript	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 2 (GFOD2), transcript variant 1, mRNA.	199						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TTGAGCAGCCCGTGCACCTTC	0.617000													10	48					0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242707232	242707232	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:242707232G>A	uc002wce.1	+	9	1587	c.1414G>A	c.(1414-1416)Gtc>Atc	p.V472I	D2HGDH_uc010fzq.1_Missense_Mutation_p.V338I|D2HGDH_uc002wcg.1_Non-coding_Transcript|D2HGDH_uc002wch.3_Non-coding_Transcript|D2HGDH_uc002wci.2_Missense_Mutation_p.V171I	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	472					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCAGGGCAGCGTCAGCGCGGA	0.682000													4	25					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56688555	56688555	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:56688555G>A	uc010dcz.2	-	9	1287	c.1169C>T	c.(1168-1170)gCg>gTg	p.A390V	TEX14_uc002iwr.2_Missense_Mutation_p.A384V|TEX14_uc002iws.2_Missense_Mutation_p.A384V|TEX14_uc010dda.2_Missense_Mutation_p.A164V	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	390	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTCAGCCTCGCTTCACCTGG	0.522000													23	116					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467947	10467947	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:10467947C>T	uc003wtc.3	-	3	3890	c.3661G>A	c.(3661-3663)Ggc>Agc	p.G1221S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1221					intracellular signal transduction			p.D1220D(1)		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)		ACCAGGGTGCCGTCCATGGCA	0.582000													4	28					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112271	64112271	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:64112271G>A	uc001nzy.3	+	13	2307	c.2258G>A	c.(2257-2259)cGc>cAc	p.R753H	CCDC88B_uc009ypo.2_Missense_Mutation_p.R750H|CCDC88B_uc001nzz.1_Missense_Mutation_p.R402H	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	753					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCCAGGCCCGCAAGCTGGAG	0.682000													4	18					0	0	1	0	0
TRIM16L	147166	broad.mit.edu	37	17	18638608	18638608	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:18638608C>T	uc010cqg.1	+	6	1222	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G	TRIM16L_uc010vyf.1_Silent_p.G348G|TRIM16L_uc002gug.1_Silent_p.G294G|TRIM16L_uc002guh.1_Silent_p.G294G|TRIM16L_uc002gui.1_Silent_p.G294G|TRIM16L_uc010vyg.1_Silent_p.G294G|TRIM16L_uc010vyh.1_3'UTR	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	Homo sapiens tripartite motif containing 16-like (TRIM16L), mRNA.	294						cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						CCTTCTATGGCGTAGAGTATG	0.512000													12	43					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879678	3879678	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:3879678G>A	uc002kmf.3	-	3	918	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	DLGAP1_uc010wyz.2_Missense_Mutation_p.R131C|DLGAP1_uc002kmk.2_Missense_Mutation_p.R131C|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	131					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CTGTCGCTGCGGTGCTCCACG	0.677000													14	127					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348548	140348548	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140348548C>T	uc003lii.3	+	0	2802	c.2197C>T	c.(2197-2199)Cgc>Tgc	p.R733C	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_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.R733C	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	733					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)			CAAGTGCTACCGCTACACTGC	0.408000													8	27					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131381261	131381261	+	Silent	SNP	C	C	T	rs150960451		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:131381261C>T	uc004bvl.4	+	42	5839	c.5697C>T	c.(5695-5697)ggC>ggT	p.G1899G	SPTAN1_uc004bvm.4_Silent_p.G1904G|SPTAN1_uc004bvn.4_Silent_p.G1879G	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1899					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAGATTATGGCGACACTCTTG	0.493000													8	27					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65237622	65237622	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:65237622C>T	uc001xht.3	-	25	5830	c.5779G>A	c.(5779-5781)Gag>Aag	p.E1927K	SPTB_uc001xhr.3_Missense_Mutation_p.E1927K|SPTB_uc001xhs.3_Missense_Mutation_p.E1927K|SPTB_uc001xhu.3_Missense_Mutation_p.E1927K|SPTB_uc010aqi.3_Missense_Mutation_p.E588K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1927					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)		TCCTGGGTCTCGATCTGCCGG	0.647000													9	56					0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29695246	29695246	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:29695246G>A	uc003aet.3	+	14	1931	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	EWSR1_uc003aev.3_Missense_Mutation_p.A540T|EWSR1_uc003aex.3_Missense_Mutation_p.A534T|EWSR1_uc003aew.3_Missense_Mutation_p.A479T|EWSR1_uc003aey.3_Missense_Mutation_p.A330T|EWSR1_uc003aez.3_Missense_Mutation_p.A196T	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	RNA binding|calmodulin binding|nucleotide binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCAGAACTTCGCCTGGAGAAC	0.517000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								30	137					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433350	73433350	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:73433350C>T	uc003dpl.1	-	9	2463	c.2367G>A	c.(2365-2367)ccG>ccA	p.P789P	PDZRN3_uc011bgh.1_Silent_p.P446P|PDZRN3_uc010hoe.1_Silent_p.P487P|PDZRN3_uc021xaq.1_Silent_p.P82P|PDZRN3_uc011bgf.1_Silent_p.P506P|PDZRN3_uc011bgg.1_Silent_p.P509P	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	789							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTTCGCTGCTCGGGCAGCTGA	0.647000													10	47					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3235012	3235012	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:3235012C>T	uc021xkv.1	+	60	8533	c.8388C>T	c.(8386-8388)gaC>gaT	p.D2796D		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2796					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACCTGCTGGACGACACTGCCA	0.657000													27	196					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101576467	101576467	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:101576467G>A	uc003knm.3	-	10	2118	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	611					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.R611L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCTAGGGACCGTTGTCTGTGA	0.338000													18	67					0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65547172	65547172	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65547172C>T	uc001ofo.4	-	0	651	c.621G>A	c.(619-621)gcG>gcA	p.A207A		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	Homo sapiens adaptor protein 5 (DKFZp761E198), mRNA.	207	Leu-rich.						protein binding			lung(1)	1						GCAGCTCCCGCGCCTCCTCAG	0.692000													15	61					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223536	44223536	+	Missense_Mutation	SNP	G	G	A	rs147576016	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:44223536G>A	uc002oxh.3	+	1	973	c.826G>A	c.(826-828)Gtc>Atc	p.V276I	IRGC_uc021uvh.1_Missense_Mutation_p.V276I	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	276						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GGTGTTGGGCGTCATCCAGGC	0.637000													7	51					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88423505	88423505	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:88423505G>A	uc002bme.2	-	18	2636	c.2330C>T	c.(2329-2331)aCg>aTg	p.T777M	NTRK3_uc002bmh.2_Missense_Mutation_p.T755M|NTRK3_uc002bmf.2_Missense_Mutation_p.T763M|NTRK3_uc021sua.1_Missense_Mutation_p.T755M	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	777	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTTTACCTCCGTGTTTGAGAG	0.502000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			12	67					0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201867493	201867493	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:201867493C>A	uc021phl.1	-	2	2057	c.1809G>T	c.(1807-1809)agG>agT	p.R603S	LMOD1_uc021phm.1_3'UTR|LMOD1_uc010ppu.2_Missense_Mutation_p.R552S	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	0					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGCCTGGCAGCCTGGTCCTAC	0.602000													5	11					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57588369	57588369	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:57588369G>A	uc001snd.3	+	49	8544	c.8078G>A	c.(8077-8079)cGc>cAc	p.R2693H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2693					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGTGTGAAACGCCCCAGATGC	0.647000													13	76					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045218	76045218	+	Silent	SNP	C	C	T	rs138478334	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:76045218C>T	uc002jud.2	+	3	675	c.75C>T	c.(73-75)ggC>ggT	p.G25G	TNRC6C_uc002juf.2_Silent_p.G25G|TNRC6C_uc002jue.2_Silent_p.G25G	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	25	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCACCAATGGCGCACTCGTCC	0.552000													7	26					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79898329	79898329	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:79898329G>A	uc004akr.3	+	29	3437	c.3177G>A	c.(3175-3177)tcG>tcA	p.S1059S	VPS13A_uc004akp.4_Silent_p.S1059S|VPS13A_uc004akq.4_Silent_p.S1059S|VPS13A_uc004aks.3_Intron	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1059					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGAATTATCGTGTTTACAGA	0.244000													4	12					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38305823	38305823	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:38305823C>T	uc001cce.1	-	2	557	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	139						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			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)				ACATTGGTACCGCTTTACCTG	0.547000													15	46					0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42132808	42132808	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:42132808A>G	uc001zoo.4	+	7	902	c.862A>G	c.(862-864)Agc>Ggc	p.S288G	JMJD7-PLA2G4B_uc010bcn.3_Missense_Mutation_p.S288G|JMJD7-PLA2G4B_uc001zoq.4_5'UTR|JMJD7-PLA2G4B_uc010bco.3_Missense_Mutation_p.S57G|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	57	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GAACAGCAGTAGCCCTGTCTG	0.617000													20	56					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33383810	33383810	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:33383810C>T	uc003oeh.3	+	14	1875	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_3'UTR|PHF1_uc010jux.3_Missense_Mutation_p.R347W	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	547					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GGTCCTTGCTCGGAGAGTACG	0.632000													19	115					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55840761	55840761	+	Splice_Site	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:55840761C>T	uc010gip.1	-	1	947	c.418_splice	c.e1+1	p.V140_splice	BMP7_uc002xyc.3_Splice_Site_p.V140_splice|BC037891_uc010gir.2_5'Flank	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	140					BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	p.V140M(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCTTACTCACCGAGGTTGACG	0.622000													4	5					0	0	1	0	0
C10orf27	219793	broad.mit.edu	37	10	72541754	72541754	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:72541754C>T	uc010qjm.1	-	3	470	c.80G>A	c.(79-81)cGc>cAc	p.R27H	C10orf27_uc001jrj.1_Missense_Mutation_p.R27H|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Missense_Mutation_p.R27H|C10orf27_uc009xqi.1_Non-coding_Transcript|C10orf27_uc010qjo.1_Missense_Mutation_p.R16H|C10orf27_uc009xqj.1_Missense_Mutation_p.R16H|C10orf27_uc010qjp.1_Missense_Mutation_p.R16H	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	27					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						CCTTGGCTTGCGCCCTGACTT	0.592000													14	74					0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417944	150417944	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:150417944C>T	uc003whq.3	+	2	992	c.852C>T	c.(850-852)ggC>ggT	p.G284G	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		TGCTGGGGGGCGCGCTCCTGT	0.687000													4	16					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295816	20295816	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:20295816A>G	uc010tkv.2	+	0	209	c.209A>G	c.(208-210)gAt>gGt	p.D70G		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTTCCTGGATGCATCCTAC	0.488000													28	145					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55086796	55086796	+	Silent	SNP	G	G	A	rs148748826		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:55086796G>A	uc010ern.3	+	5	1198	c.729G>A	c.(727-729)caG>caA	p.Q243Q	LILRA1_uc002qgg.4_Silent_p.Q243Q|LILRA1_uc002qgf.3_Silent_p.Q243Q|LILRA1_uc010yfe.1_Silent_p.Q243Q|LILRA1_uc010yff.1_Silent_p.Q231Q|LILRA1_uc010ero.3_Silent_p.Q231Q|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	245	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGACCCTCCAGTGTGTCTCTG	0.577000													15	94					0	0	1	0	0
SHMT1	6470	broad.mit.edu	37	17	18232643	18232643	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:18232643G>A	uc002gta.3	-	10	1421	c.1231C>T	c.(1231-1233)Cgt>Tgt	p.R411C	SHMT1_uc002gsz.3_Missense_Mutation_p.R186C|SHMT1_uc002gtb.3_Missense_Mutation_p.R372C|SHMT1_uc010vxt.2_Missense_Mutation_p.R273C	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	411					L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AAAAGTCCACGGGACGTCAGT	0.483000													3	17					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122340432	122340432	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:122340432C>T	uc003efm.2	+	7	1271	c.1205C>T	c.(1204-1206)tCg>tTg	p.S402L	PARP15_uc003efn.2_Missense_Mutation_p.S276L|PARP15_uc003efo.1_Missense_Mutation_p.S149L|PARP15_uc003efp.1_Missense_Mutation_p.S168L|PARP15_uc011bjt.1_Missense_Mutation_p.S168L	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	380	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AAGTACACATCGGTTTCCCTT	0.383000													11	81					0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7221199	7221199	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7221199G>A	uc002gga.1	-	25	4120	c.4113C>T	c.(4111-4113)tgC>tgT	p.C1371C	GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Silent_p.C1369C	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GCAGCTTCCGGCAAGACTCAC	0.587000													12	73					0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	24994194	24994194	+	Silent	SNP	G	G	A	rs139870683		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:24994194G>A	uc002wub.3	-	9	1637	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	ACSS1_uc002wuc.3_Silent_p.D517D|ACSS1_uc021wbm.1_Silent_p.D519D|ACSS1_uc010gdc.3_Silent_p.D314D|ACSS1_uc002wua.3_Silent_p.D436D|ACSS1_uc021wbl.1_Silent_p.D398D|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	519					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGAAGTAGGCGTCCACAAATC	0.572000													5	35					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27999103	27999103	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:27999103G>A	uc002heo.1	-	7	578	c.578C>T	c.(577-579)gCg>gTg	p.A193V	SSH2_uc010wbh.1_Missense_Mutation_p.A220V|SSH2_uc002hep.1_Missense_Mutation_p.A193V	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	193					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTAGTTATGCGCTCTGGCGAC	0.468000													10	33					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140741805	140741805	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140741805G>A	uc003ljs.2	+	0	2103	c.2103G>A	c.(2101-2103)gtG>gtA	p.V701V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Silent_p.V701V|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	703					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)			TGATCTCAGTGCTCTTCTTCC	0.577000													21	67					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75047381	75047381	+	Silent	SNP	C	C	T	rs111900570		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:75047381C>T	uc002ayr.1	+	6	1567	c.1503C>T	c.(1501-1503)caC>caT	p.H501H		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	501					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCATGAAGCACGCCCGCTGTG	0.627000													14	44					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50892978	50892978	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:50892978G>A	uc003blh.3	-	35	5201	c.5006C>T	c.(5005-5007)cCg>cTg	p.P1669L	SBF1_uc003ble.3_Missense_Mutation_p.P133L|SBF1_uc011arx.2_Missense_Mutation_p.P1307L	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1643					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTGGGCCCGCGGGCAGCTGTC	0.701000													14	69					0	0	1	0	0
AP3M1	26985	broad.mit.edu	37	10	75888897	75888897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:75888897G>A	uc001jwf.3	-	5	1202	c.772C>T	c.(772-774)Cga>Tga	p.R258*	AP3M1_uc001jwg.3_Nonsense_Mutation_p.R258*|AP3M1_uc001jwh.3_Nonsense_Mutation_p.R258*|AP3M1_uc010qla.2_Nonsense_Mutation_p.R204*	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 1 subunit (AP3M1), transcript variant 1, mRNA.	258	MHD.				protein targeting to lysosome|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					GATATGAGTCGGAAATTTCCA	0.438000													9	43					0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27759145	27759145	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:27759145C>T	uc003cdy.3	-	5	1534	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	EOMES_uc003cdx.3_Missense_Mutation_p.E493K|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.E217K	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	493					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACGGTTCTCTCGCCATTATAA	0.572000													9	90					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29884628	29884628	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:29884628G>A	uc010vec.2	-	13	2666	c.2421C>T	c.(2419-2421)ggC>ggT	p.G807G	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Silent_p.G737G|SEZ6L2_uc002dur.4_Silent_p.G737G|SEZ6L2_uc002duq.4_Silent_p.G807G|SEZ6L2_uc010ved.2_Silent_p.G763G|SEZ6L2_uc002dus.4_Silent_p.G693G	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	807	Sushi 5.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGTGACCTCGCCGATAAGCT	0.642000													16	73					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115610038	115610038	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:115610038G>A	uc001law.2	-	1	1744	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	276					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TTTGCAAGACGCAAAGCAACT	0.383000								Other identified genes with known or suspected DNA repair function					10	45					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1536525	1536525	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:1536525G>A	uc010uvf.2	-	2	837	c.837C>T	c.(835-837)gtC>gtT	p.V279V		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	284	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGCTGAGGAAGACCACGTTCC	0.662000													11	48					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162875737	162875737	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:162875737A>G	uc002ubz.3	-	14	1855	c.1294T>C	c.(1294-1296)Tat>Cat	p.Y432H	DPP4_uc010fpb.3_Missense_Mutation_p.Y108H	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	432					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TCTTACTTATAAAGATTCCTT	0.284000													11	44					0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93595350	93595350	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:93595350G>A	uc010urc.2	-	2	773	c.542C>T	c.(541-543)aCt>aTt	p.T181I	RGMA_uc002bsq.2_Missense_Mutation_p.T157I|RGMA_uc021svs.1_Missense_Mutation_p.T157I|RGMA_uc021svt.1_Missense_Mutation_p.T157I|RGMA_uc010boi.2_Missense_Mutation_p.T64I|RGMA_uc002bsr.2_Missense_Mutation_p.T64I|RGMA_uc021svu.1_Missense_Mutation_p.T157I|RGMA_uc002bss.2_Missense_Mutation_p.T173I	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	173					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GTCGGTGAAAGTCCTGAGGTG	0.602000													4	22					0	0	1	0	0
SPON2	10417	broad.mit.edu	37	4	1164338	1164338	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:1164338C>T	uc003gco.4	-	4	992	c.663G>A	c.(661-663)ccG>ccA	p.P221P	SPON2_uc021xkj.1_Silent_p.P221P|SPON2_uc010ibr.3_Silent_p.P221P|SPON2_uc003gcm.1_3'UTR	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	221	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		AGGAGTTGGCCGGGTGGCTGG	0.652000													4	26					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37480819	37480819	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37480819G>A	uc003aqt.1	-	8	1096	c.1034C>T	c.(1033-1035)cCg>cTg	p.P345L	TMPRSS6_uc003aqs.1_Missense_Mutation_p.P354L|TMPRSS6_uc003aqu.3_Missense_Mutation_p.P345L	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	354	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGGGAAGTACGGGGTGCTGAG	0.647000													3	4					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65260131	65260131	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:65260131G>A	uc001xht.3	-	12	2301	c.2250C>T	c.(2248-2250)ggC>ggT	p.G750G	SPTB_uc001xhr.3_Silent_p.G750G|SPTB_uc001xhs.3_Silent_p.G750G|SPTB_uc001xhu.3_Silent_p.G750G	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	750					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)		CATCCGCATCGCCCTGGAACT	0.602000													5	28					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38862610	38862610	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:38862610G>A	uc002ywk.3	+	5	874	c.798G>A	c.(796-798)gcG>gcA	p.A266A	DYRK1A_uc002ywi.3_Silent_p.A266A|DYRK1A_uc002ywj.3_Silent_p.A257A|DYRK1A_uc002ywm.3_Silent_p.A266A|DYRK1A_uc011aei.2_Silent_p.A27A	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	266	Protein kinase.			A -> V (in Ref. 6; CAA05059).	nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GAAAGTTTGCGCAACAGATGT	0.413000													9	30					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040431	103040431	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:103040431C>T	uc002tbx.3	+	3	715	c.231C>T	c.(229-231)aaC>aaT	p.N77N	IL18RAP_uc010fiz.3_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	77					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGGGTAGTAACGACCTATCTG	0.438000													6	25					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96543151	96543151	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:96543151T>C	uc001vmt.3	-	24	3093	c.2923A>G	c.(2923-2925)Aca>Gca	p.T975A	UGGT2_uc001vmu.1_Missense_Mutation_p.T62A	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	975					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GCTTCTCTTGTTAATGGATCA	0.279000													3	19					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	60073488	60073488	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:60073488C>T	uc009wac.3	+	8	1129	c.917C>T	c.(916-918)cCg>cTg	p.P306L	FGGY_uc001czg.2_Missense_Mutation_p.P194L|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.P306L|FGGY_uc001czl.4_Missense_Mutation_p.P218L|FGGY_uc001czm.4_Missense_Mutation_p.P7L	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	306					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGCAAAGACCCGATTTTTGTA	0.458000													8	33					0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68691458	68691458	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:68691458C>T	uc003hdq.3	-	8	1152	c.1087G>A	c.(1087-1089)Gca>Aca	p.A363T	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc003hdp.3_Missense_Mutation_p.A144T|TMPRSS11D_uc011caj.2_Missense_Mutation_p.A246T	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	363	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACCTGACATGCGTCCACTCCA	0.403000													4	21					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16378897	16378897	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16378897G>A	uc001axx.4	+	14	1749	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	CLCNKA_uc021ogl.1_Missense_Mutation_p.R185H|CLCNKA_uc021ogm.1_Missense_Mutation_p.R369H|CLCNKA_uc001axy.4_Missense_Mutation_p.R369H	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	538					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATTCTGGGCCGCAACATCGGG	0.597000													8	46					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46917787	46917787	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:46917787C>A	uc001ndn.4	-	8	1265	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	341	LDL-receptor class A 8.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCTTTCGTCGCTGTTGTCACC	0.597000													17	71					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6496044	6496044	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:6496044G>A	uc002mfg.1	-	3	573	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	TUBB4A_uc002mff.1_Missense_Mutation_p.R84C	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	156					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										AACTCCTCGCGGATCTTACTG	0.637000													22	81					0	0	1	0	0
RHOC	389	broad.mit.edu	37	1	113246352	113246352	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:113246352C>T	uc001ecp.1	-	2	370	c.70G>A	c.(70-72)Gtc>Atc	p.V24I	RHOC_uc001ecq.1_Missense_Mutation_p.V24I|RHOC_uc001ecr.1_Missense_Mutation_p.V24I|RHOC_uc009wgk.1_Missense_Mutation_p.V24I	NM_001042679	NP_786886	P08134	RHOC_HUMAN	Homo sapiens ras homolog gene family, member C (RHOC), transcript variant 3, mRNA.	24					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-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)		TTGCTGAAGACGATGAGGAGG	0.537000													4	20					0	0	1	0	0
KPNA5	3841	broad.mit.edu	37	6	117047719	117047719	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:117047719G>A	uc003pxh.3	+	11	1318	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H		NM_002269	NP_002260	O15131	IMA5_HUMAN	Homo sapiens karyopherin alpha 5 (importin alpha 6) (KPNA5), mRNA.	393	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GCAGAGTTTCGTACCAGAAAA	0.343000													4	31					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5041502	5041502	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:5041502G>A	uc002gau.1	+	20	3242	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	USP6_uc002gav.1_Missense_Mutation_p.V338M|USP6_uc010ckz.1_5'UTR|DQ584383_uc021toj.1_5'Flank|DQ574802_uc021tok.1_5'Flank|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	338					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.V338M(3)|p.V338E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CGATGACACCGTGCTCAAGCA	0.582000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								30	131					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751254	140751254	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140751254G>A	uc003ljw.2	+	0	1293	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P	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_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.P431P|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	433	Cadherin 4.				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)			GCAATCCACCGCTCTCCTCCA	0.527000													40	118					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17438497	17438497	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:17438497G>A	uc001mnc.3	-	16	2361	c.2235C>T	c.(2233-2235)agC>agT	p.S745S		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	745	ABC transporter 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)	CTCCTATCTCGCTGTCAGGAA	0.567000													3	21					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153033811	153033811	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:153033811C>T	uc010nuk.2	+	4	1534	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.S80S|PLXNB3_uc004fii.2_Silent_p.S398S|PLXNB3_uc011mzd.1_Silent_p.S37S	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	398	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCGGTCAGCGCCGTGGCAG	0.692000													6	22					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	986959	986959	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:986959G>A	uc001ack.2	+	31	5547	c.5497G>A	c.(5497-5499)Gtc>Atc	p.V1833I		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1833	EGF-like 4.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCCTCCTGCGTCCCGAGGGA	0.706000													3	10					0	0	1	0	0
KCTD17	79734	broad.mit.edu	37	22	37455445	37455445	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37455445C>T	uc010gxb.3	+	4	601	c.579C>T	c.(577-579)aaC>aaT	p.N193N	KCTD17_uc010gxa.1_Silent_p.N193N|KCTD17_uc011amv.2_Silent_p.N200N	NM_024681	NP_078957	Q8N5Z5	KCD17_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 17 (KCTD17), mRNA.	200						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						GCACCCCAAACGGGCTGAGCT	0.627000													17	90					0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	602413	602413	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:602413C>T	uc002chi.3	+	10	2983	c.2620C>T	c.(2620-2622)Cgc>Tgc	p.R874C	SOLH_uc002chj.3_5'UTR	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	874					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				CCACAGTAAGCGCGCGGTCAA	0.692000													4	29					0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131115025	131115025	+	Splice_Site	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:131115025C>T	uc004but.3	+	7	1272	c.987_splice	c.e7+1	p.T329_splice	SLC27A4_uc004buu.3_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	329					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TACAACTGCACGGTGAGCGAG	0.567000													4	41					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540274	133540274	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:133540274C>T	uc002ttp.3	-	13	4484	c.4110G>A	c.(4108-4110)ttG>ttA	p.L1370L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1370							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAGGGATCCTCAAAGGCAACT	0.622000													12	48					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122160929	122160929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:122160929G>A	uc003efe.2	-	9	1140	c.952C>T	c.(952-954)Cga>Tga	p.R318*	KPNA1_uc003efb.1_Nonsense_Mutation_p.R117*|KPNA1_uc003efc.1_Nonsense_Mutation_p.R117*|KPNA1_uc011bjr.1_Nonsense_Mutation_p.R117*|KPNA1_uc010hrh.2_Nonsense_Mutation_p.R117*	NM_002264	NP_002255	P52294	IMA1_HUMAN	Homo sapiens karyopherin alpha 1 (importin alpha 5) (KPNA1), transcript variant 1, mRNA.	318	Binding to RAG1.|NLS binding site (minor) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	p.R318Q(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CCCACAGCTCGCAAAGCAGGA	0.353000													13	111					0	0	1	0	0
EFEMP2	30008	broad.mit.edu	37	11	65635813	65635813	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65635813G>A	uc001ofy.4	-	8	1186	c.927C>T	c.(925-927)tgC>tgT	p.C309C	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	309	EGF-like 6; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TGGTGTCCACGCAGCGGTAGC	0.602000													7	30					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214556764	214556764	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:214556764C>T	uc001hkk.2	-	12	3087	c.2434G>A	c.(2434-2436)Gac>Aac	p.D812N	PTPN14_uc021piy.1_Missense_Mutation_p.D576N|PTPN14_uc010pty.2_Missense_Mutation_p.D713N	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	812					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTAGTCAGGTCGGGTTCCGAG	0.567000													9	76					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230725184	230725184	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:230725184A>G	uc002vpx.1	-	2	271	c.162T>C	c.(160-162)tcT>tcC	p.S54S	TRIP12_uc021vxw.1_Intron|TRIP12_uc002vpy.1_Intron|TRIP12_uc002vpw.1_Intron|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Intron	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	34					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGGGTGCCTTAGAATTAGATT	0.388000													7	56					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222184	140222184	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140222184C>T	uc003lhs.2	+	0	1278	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	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_Silent_p.T426T	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	440	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)			TGGTGGTAACCGCGCGGGACG	0.637000													22	135					0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62200950	62200950	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:62200950T>C	uc001xfq.2	+	7	1379	c.975T>C	c.(973-975)taT>taC	p.Y325Y	HIF1A_uc001xfr.2_Silent_p.Y325Y|HIF1A_uc001xfs.2_Silent_p.Y326Y|HIF1A_uc021rua.1_Silent_p.Y349Y	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA.	325	Interaction with TSGA10 (By similarity).|PAC.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		CTGTCATATATAACACCAAGA	0.383000													8	31					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121747516	121747516	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:121747516T>G	uc001uag.3	-	15	2166	c.2044A>C	c.(2044-2046)Aag>Cag	p.K682Q	ANAPC5_uc010szu.2_Missense_Mutation_p.K348Q|ANAPC5_uc001uae.3_Missense_Mutation_p.K246Q|ANAPC5_uc010szv.2_Missense_Mutation_p.K284Q|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Missense_Mutation_p.K570Q	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	682					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTGCTTTCTTCGGCTGATCG	0.483000													12	32					0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42275596	42275596	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:42275596T>C	uc002xkw.3	+	13	1409	c.1287T>C	c.(1285-1287)agT>agC	p.S429S	IFT52_uc002xkx.3_Non-coding_Transcript|IFT52_uc002xkz.3_3'UTR	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	Homo sapiens intraflagellar transport 52 homolog (Chlamydomonas) (IFT52), mRNA.	429						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	p.S429C(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCGATACAAGTGAAACAGCAT	0.353000													13	72					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53728214	53728214	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:53728214C>A	uc001cvi.2	-	10	1915	c.1678G>T	c.(1678-1680)Ggg>Tgg	p.G560W	LRP8_uc001cvh.2_Missense_Mutation_p.G113W|LRP8_uc001cvj.2_Missense_Mutation_p.G560W|LRP8_uc001cvk.2_Missense_Mutation_p.G390W|LRP8_uc001cvl.2_Missense_Mutation_p.G431W|LRP8_uc001cvm.1_Missense_Mutation_p.G145W	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	560					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GCCTGGTCCCCCCAGTCAGAC	0.502000													44	211					0	0	1	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37962558	37962558	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37962558G>A	uc003asz.4	+	1	605	c.202G>A	c.(202-204)Ggt>Agt	p.G68S		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	68					positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CAGCAACCACGGTGGCAGCTC	0.677000													7	27					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66260244	66260244	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:66260244G>A	uc001oig.1	+	9	1108	c.1046G>A	c.(1045-1047)aGc>aAc	p.S349N	DPP3_uc001oif.1_Missense_Mutation_p.S349N|DPP3_uc010rpe.1_Missense_Mutation_p.S338N	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	349					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGGTGGCGAGCGCAGAGCAG	0.597000													19	98					0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33596305	33596305	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:33596305A>G	uc021qfs.1	+	8	3521	c.3397A>G	c.(3397-3399)Acc>Gcc	p.T1133A	C11orf41_uc001mun.1_Missense_Mutation_p.T1139A	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1133						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						GACTTACTATACCCTGTACAA	0.542000													10	64					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	630925	630925	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:630925C>T	uc002cho.3	+	8	1622	c.1484C>T	c.(1483-1485)cCg>cTg	p.P495L	PIGQ_uc010bqw.3_Missense_Mutation_p.P495L|PIGQ_uc002chn.3_Missense_Mutation_p.P495L|PIGQ_uc010uui.2_Missense_Mutation_p.P509L|PIGQ_uc002chp.3_5'Flank	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	495	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				AACTCCCTGCCGCTGTACTCA	0.657000													28	148					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95121166	95121166	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:95121166G>A	uc010afh.3	-	1	856	c.429C>T	c.(427-429)ggC>ggT	p.G143G	DCT_uc001vlv.4_Silent_p.G143G	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	143					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.G143A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GATCTAAGGCGCCCAAGAACT	0.562000													34	143					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628907	71628907	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:71628907G>A	uc004agy.3	-	0	133	c.102C>T	c.(100-102)ccC>ccT	p.P34P		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	34					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGTTTTGAGCGGGGTTTCCCC	0.627000													10	38					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33589834	33589834	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:33589834G>A	uc002xbi.2	+	43	6203	c.5886G>A	c.(5884-5886)gcG>gcA	p.A1962A		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1920						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAGACATGGCGGAAACCCAGG	0.672000													15	25					0	0	1	0	0
HADHB	3032	broad.mit.edu	37	2	26505777	26505777	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:26505777C>T	uc002rgz.3	+	10	1249	c.998C>T	c.(997-999)cCg>cTg	p.P333L	HADHB_uc010ykv.2_Missense_Mutation_p.P311L|HADHB_uc010ykw.2_Missense_Mutation_p.P318L|HADHB_uc010ykx.2_Missense_Mutation_p.P259L	NM_000183	NP_000174	P55084	ECHB_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA.	333					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTTATAAGCCGAAGGCATAT	0.363000													6	24					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25174561	25174561	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:25174561G>A	uc003xeg.3	+	13	1494	c.1357G>A	c.(1357-1359)Ggt>Agt	p.G453S	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.G167S|DOCK5_uc003xei.3_Missense_Mutation_p.G23S	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	453	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCTGATCCACGGTGAGTTTGA	0.488000													15	80					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6125268	6125268	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6125268G>A	uc001qnn.1	-	30	5692	c.5442C>T	c.(5440-5442)gcC>gcT	p.A1814A	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1814	VWFA 3; main binding site for collagens type I and III.				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	p.A1814A(2)		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)	TGGACCTGGCGGCATCAGCTG	0.522000													11	27					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14504649	14504649	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:14504649C>T	uc003jff.3	+	54	8565	c.8559C>T	c.(8557-8559)gtC>gtT	p.V2853V	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2853	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity	p.V2853V(2)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCCTGCTTGTCGGCCTCCTCG	0.587000													43	233					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646834	122646834	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:122646834C>T	uc003efz.1	-	7	957	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	SEMA5B_uc011bju.1_Missense_Mutation_p.R160Q|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.R218Q|SEMA5B_uc010hro.1_Missense_Mutation_p.R160Q|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	218	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTCAATAGTCCGGCTGAGGTT	0.587000													6	41					0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32458878	32458878	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:32458878G>T	uc001rku.3	+	3	908	c.827G>T	c.(826-828)gGg>gTg	p.G276V	BICD1_uc001rkv.3_Missense_Mutation_p.G276V|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	276					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GCCGAGGATGGGAGTGAACCA	0.458000													7	31					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318863	3318863	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:3318863C>T	uc003ggw.3	+	1	1870	c.966C>T	c.(964-966)gaC>gaT	p.D322D	RGS12_uc003ggu.2_Silent_p.D322D|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Silent_p.D322D|RGS12_uc003ggx.1_Silent_p.D322D	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	322	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGAATGACGACGGGAGCCTGG	0.617000													18	108					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564024	37564024	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:37564024C>T	uc002hrv.4	-	16	4662	c.4450G>A	c.(4450-4452)Gat>Aat	p.D1484N	MED1_uc010wee.2_Missense_Mutation_p.D1312N|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	1484					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CGGATACCATCGTCTGAGCTG	0.448000										HNSCC(31;0.082)			7	31					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19414533	19414533	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:19414533G>A	uc002nmh.3	-	5	678	c.662_splice	c.e5+1	p.A221_splice	SUGP1_uc002nmf.3_5'Flank|SUGP1_uc002nmg.3_Splice_Site|SUGP1_uc002nmi.3_Splice_Site_p.A11_splice|SUGP1_uc002nmj.3_Splice_Site_p.A11_splice|SUGP1_uc010xqr.2_Splice_Site|SUGP1_uc010xqs.2_Intron	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	221					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						AGATACTCACGCAAATGCTGG	0.542000													41	171					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120744898	120744898	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:120744898G>A	uc001pxn.2	+	9	1317	c.1030G>A	c.(1030-1032)Ggc>Agc	p.G344S	GRIK4_uc009zav.1_Missense_Mutation_p.G344S|GRIK4_uc009zaw.1_Missense_Mutation_p.G344S|GRIK4_uc009zax.1_Missense_Mutation_p.G344S	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	344					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)	CTGGCAGCACGGCACCAGCCT	0.622000													8	19					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47769458	47769458	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:47769458T>C	uc002lee.2	-	5	1116	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	342								p.Y342Y(1)		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)		ATATTTATGGTATATCTTCTG	0.308000													6	32					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23219480	23219480	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:23219480G>A	uc009vqj.1	+	6	1677	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	EPHB2_uc001bge.3_Missense_Mutation_p.R511H|EPHB2_uc001bgf.3_Missense_Mutation_p.R511H|EPHB2_uc010odu.2_Missense_Mutation_p.R511H	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	511	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTGCGGGCACGCACCGTGGCA	0.602000													9	81					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34340709	34340709	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:34340709G>A	uc021uiv.1	+	26	4685	c.4588G>A	c.(4588-4590)Gcg>Acg	p.A1530T	FHOD3_uc002kzs.1_Missense_Mutation_p.A1347T|FHOD3_uc002kzt.1_Missense_Mutation_p.A1330T|FHOD3_uc010dmz.1_Missense_Mutation_p.A1062T|FHOD3_uc010dnb.1_Intron	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	1330					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGCCACCCCCGCGCTGGGCGT	0.682000													6	26					0	0	1	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22862016	22862016	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:22862016C>T	uc003xcp.2	+	3	418	c.135C>T	c.(133-135)aaC>aaT	p.N45N	RHOBTB2_uc011kzp.1_Silent_p.N30N|RHOBTB2_uc003xcq.2_Silent_p.N23N	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	23	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGGGGGACAACGCCGTGGGTA	0.587000											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	53					0	0	1	0	0
SERINC2	347735	broad.mit.edu	37	1	31906941	31906941	+	Silent	SNP	G	G	A	rs11554767	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:31906941G>A	uc021okm.1	+	10	1563	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	SERINC2_uc010ogg.2_Silent_p.T425T|SERINC2_uc001bst.3_Silent_p.T421T|SERINC2_uc001bsu.3_Silent_p.T366T|SERINC2_uc010ogh.2_Silent_p.T425T	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	422						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TGATCAGCACGTGGACCGCCG	0.627000													28	155					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109693958	109693958	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:109693958G>A	uc001tob.3	+	44	6299	c.6180G>A	c.(6178-6180)acG>acA	p.T2060T	ACACB_uc001toc.3_Silent_p.T2060T|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.T726T	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2060	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGAAGGGAACGTGGCAGAGCG	0.602000													7	55					0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7612511	7612511	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7612511C>T	uc002gis.3	+	4	1037	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	214					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAACCTCCCGGGGTGCTGA	0.701000													19	83					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73048739	73048739	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:73048739A>T	uc001jro.3	+	7	1542	c.1091A>T	c.(1090-1092)aAc>aTc	p.N364I	UNC5B_uc001jrp.3_Intron	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	364					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AGCGACCCCAACAGCCACCGT	0.522000													7	21					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16989253	16989253	+	Missense_Mutation	SNP	G	G	A	rs1276708		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:16989253G>A	uc001ioo.3	-	35	5375	c.5323C>T	c.(5323-5325)Cgg>Tgg	p.R1775W		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1775	CUB 12.		R -> W (in dbSNP:rs1276708).		cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.R1775W(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCTGGAGCCGGTTGCCAGGG	0.453000													4	21					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124132334	124132334	+	Silent	SNP	C	C	T	rs149412677		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:124132334C>T	uc003ehg.3	+	13	2485	c.2358C>T	c.(2356-2358)gaC>gaT	p.D786D	KALRN_uc010hrv.1_Silent_p.D786D|KALRN_uc003ehf.1_Silent_p.D786D|KALRN_uc011bjy.1_Silent_p.D786D|KALRN_uc003ehh.1_Silent_p.D132D	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	786					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAGAGCTAGACGCCTGGAATG	0.532000													4	26					0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122342454	122342454	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:122342454G>A	uc003vkk.1	-	0	568	c.351C>T	c.(349-351)aaC>aaT	p.N117N	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	117	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CTGCTGCCACGTTGATTTTAT	0.483000													32	149					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233757708	233757708	+	Missense_Mutation	SNP	C	C	T	rs146544382	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:233757708C>T	uc002vts.2	-	6	1290	c.1042G>A	c.(1042-1044)Gtg>Atg	p.V348M	NGEF_uc010zmm.1_Missense_Mutation_p.V71M|NGEF_uc010fyg.1_Missense_Mutation_p.V256M	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	348	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ATGTCACACACGTCAGAGATG	0.587000													15	83					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563937	75563937	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:75563937C>T	uc002fej.1	-	4	685	c.364G>A	c.(364-366)Gac>Aac	p.D122N	CHST5_uc002fei.3_Missense_Mutation_p.D116N|CHST5_uc021tlk.1_Missense_Mutation_p.D116N	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	116					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CGCATCAGGTCGCGCACGGCC	0.612000													13	60					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232196543	232196543	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:232196543C>T	uc002vrq.4	+	19	1924	c.1812C>T	c.(1810-1812)gaC>gaT	p.D604D	ARMC9_uc002vrp.4_Silent_p.D604D|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	604							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGGACAAAGACGAACTGATCC	0.562000													4	24					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63206629	63206629	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:63206629G>A	uc002jfe.3	+	16	1516	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H	RGS9_uc021ubw.1_Missense_Mutation_p.R435H|RGS9_uc010dem.3_Missense_Mutation_p.R435H|RGS9_uc002jfd.3_Missense_Mutation_p.R435H|RGS9_uc002jfg.3_Missense_Mutation_p.R209H	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	438					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TTTATGCGGCGTCACCTGCGC	0.572000													14	103					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130489367	130489367	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:130489367C>T	uc004brq.1	+	10	1611	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	PTRH1_uc011mah.2_5'Flank|TTC16_uc011mai.1_Missense_Mutation_p.A502V|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_Missense_Mutation_p.A111V	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	515							binding	p.A515A(1)		central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AGCCTGCAGGCCGGCAGCCCA	0.662000													6	27					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98445737	98445737	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:98445737C>T	uc003upo.3	-	7	1439	c.1250G>A	c.(1249-1251)cGt>cAt	p.R417H	TMEM130_uc011kiq.2_Missense_Mutation_p.R386H|TMEM130_uc011kir.2_Missense_Mutation_p.R405H|TMEM130_uc003upn.3_Missense_Mutation_p.R303H	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	417						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGGTTCTCACGAACAATTTC	0.567000													9	43					0	0	1	0	0
CCR7	1236	broad.mit.edu	37	17	38711044	38711044	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:38711044G>A	uc002huw.3	-	2	1162	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C		NM_001838	NP_001829	P32248	CCR7_HUMAN	Homo sapiens chemokine (C-C motif) receptor 7 (CCR7), mRNA.	363					T cell costimulation|cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				ATGGAGGAGCGCCGGATGTGC	0.632000													16	70					0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391921	58391921	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:58391921C>T	uc001nna.4	+	1	609	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	CNTF_uc010rkm.2_Non-coding_Transcript	NM_000614	NP_000605	P26441	CNTF_HUMAN	Homo sapiens ciliary neurotrophic factor (CNTF), mRNA.	177					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)				CCATGACCTTCGTTTCATTTC	0.463000													10	49					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73497583	73497583	+	Missense_Mutation	SNP	C	C	T	rs140270094	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:73497583C>T	uc002joc.3	-	18	4034	c.3484G>A	c.(3484-3486)Gca>Aca	p.A1162T	CASKIN2_uc010wsc.2_Missense_Mutation_p.A1080T	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	1162						cytoplasm		p.L1159_A1162del(2)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCTTCTCTGCGGCTCTCAGT	0.657000													32	145					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	108437	108437	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:108437C>T	uc002cfl.4	-	17	2613	c.2470G>A	c.(2470-2472)Gtc>Atc	p.V824I		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	824					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)				ACAGGATAGACGTAGAAGAGG	0.557000													19	134					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41497314	41497314	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:41497314G>A	uc002opr.1	+	0	111	c.104G>A	c.(103-105)cGc>cAc	p.R35H	CYP2A7_uc002opo.3_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	35					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCAGGGCCCCGCCCTCTGCCC	0.572000													51	257					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58700883	58700883	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:58700883G>A	uc002iyt.2	+	2	705	c.473_splice	c.e2-1	p.A158_splice	PPM1D_uc010ddm.2_Splice_Site	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	158	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TTATTACAGCGGAATGGCCAA	0.403000													22	126					0	0	1	0	0
SAMM50	25813	broad.mit.edu	37	22	44371976	44371976	+	Silent	SNP	C	C	T	rs34262262		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:44371976C>T	uc003bej.3	+	7	887	c.690C>T	c.(688-690)ggC>ggT	p.G230G	SAMM50_uc011aqd.2_Silent_p.G20G|SAMM50_uc003bek.3_Silent_p.G35G	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	Homo sapiens sorting and assembly machinery component 50 homolog (S. cerevisiae) (SAMM50), mRNA.	230					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGTGGGAAGGCGTATGGCGAG	0.483000													5	31					0	0	1	0	0
EIF3D	8664	broad.mit.edu	37	22	36907719	36907719	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:36907719C>A	uc003apr.3	-	13	1629	c.1464G>T	c.(1462-1464)tgG>tgT	p.W488C	EIF3D_uc011amr.2_Missense_Mutation_p.W315C|EIF3D_uc011amt.2_Missense_Mutation_p.W439C|EIF3D_uc011ams.2_Missense_Mutation_p.W391C	NM_003753	NP_003744	O15371	EIF3D_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA.	488						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GTAAAATGCCCCAGGCATTCT	0.542000											OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	38					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46751151	46751151	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:46751151G>A	uc001cpn.3	-	3	1422	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	LRRC41_uc010omb.2_Missense_Mutation_p.R460C|LRRC41_uc001cpo.1_Missense_Mutation_p.R460C	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	460										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAGATGCTGCGGAATCTTTGT	0.562000													12	66					0	0	1	0	0
FAM207A	85395	broad.mit.edu	37	21	46363698	46363698	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:46363698G>A	uc002zgl.3	+	1	247	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	FAM207A_uc002zgm.3_Missense_Mutation_p.V77I	NM_058190	NP_478070	Q9NSI2	CU070_HUMAN	Homo sapiens family with sequence similarity 207, member A (FAM207A), mRNA.	77																	TGTCACTTCCGTCAGGAGAGG	0.597000													10	43					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152821637	152821637	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:152821637G>A	uc004fht.1	+	11	2315	c.2189G>A	c.(2188-2190)tGc>tAc	p.C730Y	ATP2B3_uc004fhs.1_Missense_Mutation_p.C730Y	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	730					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GACTTCCTGTGCCTAGAAGGG	0.637000													12	22					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111453	55111453	+	Silent	SNP	C	C	A	rs79231280	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:55111453C>A	uc010rie.2	+	0	777	c.777C>A	c.(775-777)ccC>ccA	p.P259P		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATGTTAGACCCGTTTCCAACT	0.388000													5	26					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156937788	156937788	+	Silent	SNP	G	G	A	rs149641569		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:156937788G>A	uc001fqo.3	-	9	1874	c.834C>T	c.(832-834)acC>acT	p.T278T	ARHGEF11_uc001fqn.3_Silent_p.T318T	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	278					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)					CCTGGTCACCGGTTGAGGGGA	0.582000													7	45					0	0	1	0	0
RCOR3	55758	broad.mit.edu	37	1	211462719	211462719	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:211462719T>C	uc010psw.2	+	7	1115	c.920T>C	c.(919-921)tTg>tCg	p.L307S	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Missense_Mutation_p.L307S|RCOR3_uc001hif.3_Missense_Mutation_p.L307S|RCOR3_uc001hig.3_Missense_Mutation_p.L249S	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	249	SANT 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GACATGGAGTTGATCTCTCTA	0.413000													7	29					0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129094302	129094302	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:129094302C>T	uc011koy.2	+	6	680	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	FAM40B_uc003vow.3_Missense_Mutation_p.R214C	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	214										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGAAAATATTCGCCTGGAGCG	0.522000													7	47					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40474485	40474485	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:40474485G>A	uc002hzl.1	-	20	2156	c.1916C>T	c.(1915-1917)cCa>cTa	p.P639L	STAT3_uc002hzk.1_Missense_Mutation_p.P639L|STAT3_uc002hzm.1_Missense_Mutation_p.P639L|STAT3_uc010wgh.1_Missense_Mutation_p.P541L|STAT3_uc002hzn.1_Missense_Mutation_p.P639L	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	639	SH2.				JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTTTGTGTATGGTTCCACGGA	0.453000									Hyperimmunoglobulin E Recurrent Infection Syndrome				18	82					0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	878744	878745	+	Frame_Shift_Del	DEL	GA	-	-	rs72902602	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:878744_878745delGA	uc001abw.1	+	11	1756_1757	c.1676_1677delGA	c.(1675-1677)ggafs	p.G559fs	SAMD11_uc001abx.1_Frame_Shift_Del_p.G422fs	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA.	559	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)		TCTGGCTGTGGAGAGTACACTC	0.658													15	63	---	---	---	---					
TCEB3	6924	broad.mit.edu	37	1	24080607	24080609	+	In_Frame_Del	DEL	GAA	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:24080607_24080609delGAA	uc001bho.3	+	5	1693_1695	c.1633_1635delGAA	c.(1633-1635)gaadel	p.E548del		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	548	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTCACCCCAGGAAGAAGAAGAAG	0.473													9	57	---	---	---	---					
RLF	6018	broad.mit.edu	37	1	40705391	40705391	+	Frame_Shift_Del	DEL	A	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:40705391delA	uc001cfc.4	+	7	5048	c.5017delA	c.(5017-5019)aaafs	p.K1673fs	RLF_uc001cfd.4_Frame_Shift_Del_p.K1364fs	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	1673					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGGAACTTTGAAATGTAATCA	0.408													9	59	---	---	---	---					
AGL	178	broad.mit.edu	37	1	100346968	100346970	+	In_Frame_Del	DEL	CTT	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:100346968_100346970delCTT	uc001dsi.1	+	15	2522_2524	c.2122_2124delCTT	c.(2122-2124)cttdel	p.L708del	AGL_uc001dsj.1_In_Frame_Del_p.L708del|AGL_uc001dsk.1_In_Frame_Del_p.L708del|AGL_uc001dsl.1_In_Frame_Del_p.L708del|AGL_uc001dsm.1_In_Frame_Del_p.L692del|AGL_uc001dsn.1_In_Frame_Del_p.L691del	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	708					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TATCAGTAAACTTCATCAGGAGC	0.394													12	99	---	---	---	---					
RGS2	5997	broad.mit.edu	37	1	192779369	192779369	+	Frame_Shift_Del	DEL	A	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:192779369delA	uc001gsl.3	+	1	217	c.184delA	c.(184-186)aaafs	p.K62fs		NM_002923	NP_002914	P41220	RGS2_HUMAN	Homo sapiens regulator of G-protein signaling 2, 24kDa (RGS2), mRNA.	62	Necessary for membrane association.				cell cycle|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	GTPase activator activity|calmodulin binding|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						CAAAACCGGCAAAAAAAGCAA	0.368													7	50	---	---	---	---					
CFH	3075	broad.mit.edu	37	1	196709822	196709824	+	In_Frame_Del	DEL	AGA	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:196709822_196709824delAGA	uc001gtj.4	+	17	3096_3098	c.2856_2858delAGA	c.(2854-2859)ggagaa>gga	p.E954del	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	954	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATCAGTATGGAGAAGAAGTTACG	0.384													12	66	---	---	---	---					
FAM98A	25940	broad.mit.edu	37	2	33813402	33813402	+	Splice_Site	DEL	T	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:33813402delT	uc002rpa.1	-	4	596	c.522_splice	c.e4+1	p.K174_splice	FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Splice_Site_p.K51_splice	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	174										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)					AAGGTCTTACTTTTTTTTCAA	0.338													17	56	---	---	---	---					
CCDC74A	90557	broad.mit.edu	37	2	132290249	132290249	+	Frame_Shift_Del	DEL	C	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:132290249delC	uc002tta.3	+	4	823	c.771delC	c.(769-771)cacfs	p.H257fs	CCDC74A_uc002ttb.3_Frame_Shift_Del_p.H191fs|CCDC74A_uc021vpq.1_Intron|CCDC74A_uc021vpr.1_Intron	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	257										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CGGGGGCACACCCCCCAATGA	0.602													19	171	---	---	---	---					
ZNF385D	79750	broad.mit.edu	37	3	21792397	21792398	+	Frame_Shift_Del	DEL	TA	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:21792397_21792398delTA	uc003cce.3	-	0	419_420	c.11_12delTA	c.(10-12)atafs	p.I4fs	ZNF385D_uc010hfb.1_Intron	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	4						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CAAAATACATTATGTTTCTCAT	0.470													10	51	---	---	---	---					
DNAH1	25981	broad.mit.edu	37	3	52412624	52412624	+	Frame_Shift_Del	DEL	C	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:52412624delC	uc011bef.2	+	46	7466	c.7205delC	c.(7204-7206)gccfs	p.A2402fs		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2402	AAA 3 (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)		CCAGCTGGGGCCCCCCACATT	0.627													11	187	---	---	---	---					
NR1I2	8856	broad.mit.edu	37	3	119536021	119536021	+	Frame_Shift_Del	DEL	C	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:119536021delC	uc003edj.3	+	8	3106	c.1267delC	c.(1267-1269)cccfs	p.P423fs	NR1I2_uc003edi.3_Frame_Shift_Del_p.P386fs|NR1I2_uc003edk.3_Frame_Shift_Del_p.P462fs|NR1I2_uc003edl.3_Frame_Shift_Del_p.P311fs	NM_003889	NP_003880	O75469	NR1I2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 2 (NR1I2), transcript variant 1, mRNA.	423	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CTTTGCTACGCCCCTCATGCA	0.617													22	95	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2698177	2698177	+	Frame_Shift_Del	DEL	A	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:2698177delA	uc010ick.3	+	16	3092	c.3091delA	c.(3091-3093)aaafs	p.K1031fs	FAM193A_uc003gfd.3_Frame_Shift_Del_p.K831fs|FAM193A_uc011bvm.2_Frame_Shift_Del_p.K853fs|FAM193A_uc011bvn.2_Frame_Shift_Del_p.K831fs|FAM193A_uc010icl.3_Frame_Shift_Del_p.K831fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Del_p.K685fs	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	831										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGAGCAACCTAAAAAAATGGA	0.453													11	48	---	---	---	---					
WDR19	57728	broad.mit.edu	37	4	39230192	39230193	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:39230192_39230193delAC	uc003gtv.3	+	16	2018_2019	c.1864_1865delAC	c.(1864-1866)acafs	p.T622fs	WDR19_uc011byi.2_Frame_Shift_Del_p.T462fs|WDR19_uc003gtw.1_Frame_Shift_Del_p.T219fs	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	622					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						GACCTGCCAAACACAGAGTGGA	0.441													12	72	---	---	---	---					
PDGFRA	5156	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:54319248_54319249delAG	uc003gzy.3	+	15	1633_1634	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	PDGFRA_uc003haa.3_Intron|PDGFRA_uc011bzu.2_Frame_Shift_Del_p.R477fs|PDGFRA_uc003gzz.3_Frame_Shift_Del_p.R409fs|PDGFRA_uc003hab.3_Frame_Shift_Del_p.R448fs|PDGFRA_uc010ign.3_Non-coding_Transcript|FIP1L1_uc003hae.3_Frame_Shift_Del_p.P67fs	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.R487fs*3(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	agaACGCACCAGAGAGAGAGAG	0.470			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			9	37	---	---	---	---					
CCDC111	201973	broad.mit.edu	37	4	185593424	185593424	+	Frame_Shift_Del	DEL	T	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:185593424delT	uc003iwk.2	+	6	1087	c.654delT	c.(652-654)catfs	p.H218fs	CCDC111_uc010isd.1_Non-coding_Transcript|CCDC111_uc003iwj.2_Frame_Shift_Del_p.H218fs|CCDC111_uc003iwm.2_Frame_Shift_Del_p.H89fs|CCDC111_uc003iwn.2_Frame_Shift_Del_p.H43fs	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	Homo sapiens coiled-coil domain containing 111 (CCDC111), mRNA.	218					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		GATTTCCCCATTTTTCAGAAG	0.408													9	64	---	---	---	---					
PRPF4B	8899	broad.mit.edu	37	6	4032804	4032806	+	In_Frame_Del	DEL	AAG	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:4032804_4032806delAAG	uc003mvv.3	+	1	1144_1146	c.1053_1055delAAG	c.(1051-1056)aaaaga>aaa	p.R353del	PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	353	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTAGTCCTAAAAGAAGAAGTTTG	0.414													14	81	---	---	---	---					
ABCF1	23	broad.mit.edu	37	6	30550275	30550276	+	Frame_Shift_Ins	INS	-	A	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:30550275_30550276insA	uc003nql.3	+	8	878_879	c.783_784insA	c.(781-786)ctgaaafs	p.L261fs	ABCF1_uc003nqk.2_Frame_Shift_Ins_p.L262fs|ABCF1_uc003nqm.3_Intron|MIR877_uc021yud.1_5'Flank	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	261					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AGAAAAAGCTGAAAAAACAGGT	0.450													14	46	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039411	55039411	+	Frame_Shift_Del	DEL	C	-	-	rs76774128		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:55039411delC	uc003pcl.3	+	0	341	c.26delC	c.(25-27)tccfs	p.S9fs	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		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)			TTGGAGGACTCCCCCCCTTGT	0.567													30	139	---	---	---	---					
UFL1	23376	broad.mit.edu	37	6	96999786	96999786	+	Frame_Shift_Del	DEL	A	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:96999786delA	uc003por.3	+	16	2020	c.1972delA	c.(1972-1974)aaafs	p.K658fs	UFL1_uc010kck.3_Non-coding_Transcript	NM_015323	NP_056138	O94874	UFL1_HUMAN	Homo sapiens UFM1-specific ligase 1 (UFL1), mRNA.	658					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	UFM1 conjugating enzyme activity|protein binding										AAGGGGAGACAAAAAAAGGGA	0.338													10	65	---	---	---	---					
KLHL7	55975	broad.mit.edu	37	7	23207467	23207468	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:23207467_23207468delTG	uc003svs.4	+	8	1483_1484	c.1190_1191delTG	c.(1189-1191)ctgfs	p.L397fs	KLHL7_uc003svr.4_Frame_Shift_Del_p.L375fs|KLHL7_uc011jys.2_Frame_Shift_Del_p.L321fs|KLHL7_uc011jyt.2_Frame_Shift_Del_p.L172fs|KLHL7_uc003svt.3_Frame_Shift_Del_p.L349fs|KLHL7_uc011jyv.2_Frame_Shift_Del_p.L172fs	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	397						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AACTCAGCTCTGTATTTATTTG	0.465													7	36	---	---	---	---					
UPK3B	80761	broad.mit.edu	37	7	76140012	76140014	+	In_Frame_Del	DEL	CTC	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:76140012_76140014delCTC	uc003ufq.3	+	0	268_270	c.43_45delCTC	c.(43-45)ctcdel	p.L17del	UPK3B_uc003ufo.3_In_Frame_Del_p.L17del|UPK3B_uc010ldk.1_In_Frame_Del_p.L17del	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN	Homo sapiens uroplakin 3B (UPK3B), transcript variant 1, mRNA.	17					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GCTGCAGATGCTCCTCCTGGCGT	0.695													13	28	---	---	---	---					
KCNH2	3757	broad.mit.edu	37	7	150656679	150656679	+	Frame_Shift_Del	DEL	G	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:150656679delG	uc003wic.3	-	2	854	c.453delC	c.(451-453)cccfs	p.P151fs	KCNH2_uc011kux.2_Frame_Shift_Del_p.P55fs|KCNH2_uc003wie.3_Frame_Shift_Del_p.P151fs	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	151					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.T152fs*180(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCCAGCTGGTGGGGGGGCCCC	0.587													7	63	---	---	---	---					
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898442	112898442	+	Frame_Shift_Del	DEL	A	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:112898442delA	uc004bei.2	+	8	1506	c.1314delA	c.(1312-1314)ctafs	p.L438fs	PALM2-AKAP2_uc004bej.4_Frame_Shift_Del_p.L206fs|PALM2-AKAP2_uc004bek.4_Frame_Shift_Del_p.L206fs|PALM2-AKAP2_uc004bel.1_Frame_Shift_Del_p.L16fs|PALM2-AKAP2_uc011lwi.2_Frame_Shift_Del_p.L64fs|PALM2-AKAP2_uc004bem.3_Frame_Shift_Del_p.L64fs|PALM2-AKAP2_uc010mtw.1_Frame_Shift_Del_p.L24fs|PALM2-AKAP2_uc011lwj.2_5'UTR|PALM2-AKAP2_uc004ben.3_5'UTR	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	197							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ATATCTGGCTAAAAAGCGAGG	0.463													12	68	---	---	---	---					
TACC2	10579	broad.mit.edu	37	10	123970380	123970380	+	Frame_Shift_Del	DEL	C	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:123970380delC	uc001lfv.3	+	8	6800	c.6440delC	c.(6439-6441)accfs	p.T2147fs	TACC2_uc001lfw.3_Frame_Shift_Del_p.T293fs|TACC2_uc009xzx.3_Frame_Shift_Del_p.T2102fs|TACC2_uc010qtv.2_Frame_Shift_Del_p.T2151fs|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Frame_Shift_Del_p.T225fs|TACC2_uc001lga.3_Frame_Shift_Del_p.T225fs|TACC2_uc009xzy.3_Frame_Shift_Del_p.T225fs|TACC2_uc001lgb.3_Frame_Shift_Del_p.T182fs|TACC2_uc010qtw.1_Frame_Shift_Del_p.T242fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2147						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCACAGAGACCCCCCCAGTG	0.522													29	222	---	---	---	---					
MLL	4297	broad.mit.edu	37	11	118307279	118307281	+	In_Frame_Del	DEL	GGC	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:118307279_118307281delGGC	uc001pta.3	+	0	75_77	c.52_54delGGC	c.(52-54)ggcdel	p.G23del	MLL_uc001ptb.3_In_Frame_Del_p.G23del|MGC13053_uc001psy.3_5'Flank|MLL_uc001psz.1_In_Frame_Del_p.G23del	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	23	Ala/Gly/Ser-rich.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GACCAccgggggcggcggcggcg	0.798			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""								2	4	---	---	---	---					
OR10G7	390265	broad.mit.edu	37	11	123909636	123909636	+	Frame_Shift_Del	DEL	G	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:123909636delG	uc001pzq.1	-	0	73	c.73delC	c.(73-75)ctcfs	p.L25fs		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P24P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATTCCAAAGAGGGGGGCGTCC	0.567													12	80	---	---	---	---					
FOXM1	2305	broad.mit.edu	37	12	2968088	2968088	+	Frame_Shift_Del	DEL	G	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:2968088delG	uc001qlf.3	-	8	2291	c.2008delC	c.(2008-2010)cttfs	p.L670fs	LOC100507424_uc021qtc.1_Intron|FOXM1_uc001qle.3_Frame_Shift_Del_p.L708fs|FOXM1_uc009zea.3_Frame_Shift_Del_p.L655fs|FOXM1_uc009zeb.3_Frame_Shift_Del_p.L654fs|FOXM1_uc001qlg.3_Frame_Shift_Del_p.L655fs	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	670					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGTGATTCAAGGGGGGGAGCA	0.577													13	52	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6161823	6161823	+	Frame_Shift_Del	DEL	G	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6161823delG	uc001qnn.1	-	15	2322	c.2072delC	c.(2071-2073)ccafs	p.P691fs	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	691	TIL 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)	GTAGAGCCCTGGGGGGCAGAA	0.607													8	72	---	---	---	---					
VAMP1	6843	broad.mit.edu	37	12	6579696	6579697	+	Splice_Site	INS	-	T	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6579696_6579697insT	uc001qok.3	-	1	148	c.2_splice	c.e1+1	p.M1_splice	VAMP1_uc001qoj.3_Splice_Site_p.M1_splice|VAMP1_uc001qol.3_Splice_Site_p.M1_splice	NM_014231	NP_055046	P23763	VAMP1_HUMAN	Homo sapiens vesicle-associated membrane protein 1 (synaptobrevin 1) (VAMP1), transcript variant 1, mRNA.	1					neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding			endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	GTCAACTCACATTTTTCTGACA	0.609													7	42	---	---	---	---					
FAM60A	58516	broad.mit.edu	37	12	31448178	31448178	+	Frame_Shift_Del	DEL	T	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:31448178delT	uc001rkc.3	-	1	535	c.293delA	c.(292-294)aacfs	p.N98fs	FAM60A_uc010sjz.2_Frame_Shift_Del_p.N73fs|FAM60A_uc001rkd.3_Frame_Shift_Del_p.N73fs|FAM60A_uc010ska.2_Frame_Shift_Del_p.N73fs|FAM60A_uc001rke.3_Frame_Shift_Del_p.N73fs|FAM60A_uc010skb.2_Intron	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA.	73										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					ATGATTCCAGTTTTTTTTTGA	0.358													7	14	---	---	---	---					
H3F3C	440093	broad.mit.edu	37	12	31944698	31944699	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:31944698_31944699delCT	uc001rkr.3	-	0	477_478	c.402_403delAG	c.(400-405)agagctfs	p.R134fs		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	134					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TTCACTTAAGCTCTCTCTCCCC	0.406										HNSCC(67;0.2)			12	68	---	---	---	---					
MLL2	8085	broad.mit.edu	37	12	49442461	49442462	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49442461_49442462delTC	uc001rta.4	-	12	4111_4112	c.4111_4112delGA	c.(4111-4113)gacfs	p.D1371fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1371					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						GACAAATTTGTCTGTGTTGGAG	0.465			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			35	135	---	---	---	---					
GNPTAB	79158	broad.mit.edu	37	12	102158002	102158002	+	Frame_Shift_Del	DEL	T	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:102158002delT	uc001tit.3	-	12	2885	c.2693delA	c.(2692-2694)aagfs	p.K898fs		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	898					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTGGAAATACTTTTTTTTCTC	0.373													16	82	---	---	---	---					
BTBD11	121551	broad.mit.edu	37	12	107937778	107937778	+	Frame_Shift_Del	DEL	C	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:107937778delC	uc001tmk.1	+	2	1873	c.1352delC	c.(1351-1353)accfs	p.T451fs	BTBD11_uc009zut.1_Frame_Shift_Del_p.T451fs|BTBD11_uc001tmj.3_Frame_Shift_Del_p.T451fs	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	451						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGCAATGGCACCCCCCTGCAC	0.582													11	38	---	---	---	---					
C12orf51	283450	broad.mit.edu	37	12	112650410	112650411	+	Frame_Shift_Del	DEL	GT	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:112650410_112650411delGT	uc021reb.1	-	48	7503_7504	c.7107_7108delAC	c.(7105-7110)ccacctfs	p.P2369fs	C12orf51_uc001ttr.1_Frame_Shift_Del_p.P256fs	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CCCGGAGGAGGTGGAGTCCCCT	0.520													8	51	---	---	---	---					
CCDC92	80212	broad.mit.edu	37	12	124422214	124422216	+	In_Frame_Del	DEL	CTT	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:124422214_124422216delCTT	uc001ufw.1	-	4	532_534	c.385_387delAAG	c.(385-387)aagdel	p.K129del	CCDC92_uc001ufv.1_In_Frame_Del_p.K112del|CCDC92_uc001ufx.1_In_Frame_Del_p.K129del	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	129										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CCTCCAGGTACTTCTTCTCTCGC	0.537													40	174	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23913031	23913033	+	In_Frame_Del	DEL	TAC	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:23913031_23913033delTAC	uc001uon.2	-	9	5571_5573	c.4982_4984delGTA	c.(4981-4986)agtacg>acg	p.S1661del	SACS_uc001uoo.2_In_Frame_Del_p.S1514del|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.	1661					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)		TTGTAGCACGTACTACTAACTTC	0.384													8	44	---	---	---	---					
FBXO34	55030	broad.mit.edu	37	14	55818654	55818654	+	Frame_Shift_Del	DEL	G	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:55818654delG	uc021rtk.1	+	0	1546	c.1546delG	c.(1546-1548)gggfs	p.G516fs	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Frame_Shift_Del_p.G516fs|FBXO34_uc010aoo.3_Frame_Shift_Del_p.G516fs	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	516										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGATGCTGCTGGGGGTGACAG	0.488													32	138	---	---	---	---					
VRTN	55237	broad.mit.edu	37	14	74824199	74824199	+	Frame_Shift_Del	DEL	C	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:74824199delC	uc021rwl.1	+	0	713	c.713delC	c.(712-714)gccfs	p.A238fs	VRTN_uc001xpw.4_Frame_Shift_Del_p.A238fs	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	238					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGTACTTTGCCCCTGTGGTG	0.687													10	71	---	---	---	---					
TMED8	283578	broad.mit.edu	37	14	77808302	77808303	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:77808302_77808303delCT	uc001xto.1	-	5	789_790	c.789_790delAG	c.(787-792)agaggcfs	p.R263fs	TMED8_uc001xtn.1_Frame_Shift_Del_p.R107fs	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 8 (TMED8), mRNA.	263	GOLD.				transport	integral to membrane		p.G264fs*30(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTCCTGGAGCCTCTCTCCACAT	0.609													8	27	---	---	---	---					
UNC79	57578	broad.mit.edu	37	14	94088050	94088050	+	Frame_Shift_Del	DEL	A	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:94088050delA	uc001ybv.1	+	27	4089	c.4006delA	c.(4006-4008)aaafs	p.K1336fs	UNC79_uc001ybs.1_Frame_Shift_Del_p.K1314fs	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1491						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGCATTCCGAAAAAAAAGCT	0.398													10	56	---	---	---	---					
ASPG	374569	broad.mit.edu	37	14	104571684	104571684	+	Frame_Shift_Del	DEL	G	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:104571684delG	uc001yop.2	+	9	1155	c.1070delG	c.(1069-1071)cggfs	p.R357fs	ASPG_uc001yoo.2_Frame_Shift_Del_p.R385fs|ASPG_uc001yoq.2_Frame_Shift_Del_p.R357fs|ASPG_uc001yor.2_Frame_Shift_Del_p.R357fs	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	357					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	p.E387fs*2(1)|p.E359fs*2(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						AAGGACCTTCGGGGGGAGATG	0.682													13	56	---	---	---	---					
PIGB	9488	broad.mit.edu	37	15	55621921	55621922	+	Splice_Site	INS	-	T	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:55621921_55621922insT	uc002act.3	+	5	839	c.523_splice	c.e5-1	p.F175_splice	PIGB_uc010ugg.2_Splice_Site	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	175					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCCA	0.342													16	78	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93480819	93480819	+	Frame_Shift_Del	DEL	A	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:93480819delA	uc002bsp.3	+	5	1090	c.515delA	c.(514-516)caafs	p.Q172fs	CHD2_uc002bsm.2_Frame_Shift_Del_p.Q172fs|CHD2_uc002bsn.3_Frame_Shift_Del_p.Q172fs|CHD2_uc002bso.1_Frame_Shift_Del_p.Q172fs|CHD2_uc010urb.2_Frame_Shift_Del_p.Q185fs	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	172					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAGCCAGAACAAAAAAAAGTA	0.418													8	38	---	---	---	---					
TRAP1	10131	broad.mit.edu	37	16	3727584	3727594	+	Frame_Shift_Del	DEL	AGTAGAAACCC	-	-	rs149991698		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:3727584_3727594delAGTAGAAACCC	uc002cvt.4	-	5	698_708	c.609_619delGGGTTTCTACT	c.(607-621)gtgggtttctactcafs	p.V203fs	TRAP1_uc002cvs.3_5'UTR|TRAP1_uc010uxf.2_Frame_Shift_Del_p.V150fs	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	Homo sapiens TNF receptor-associated protein 1 (TRAP1), mRNA.	203					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				ATGAAAGCTGAGTAGAAACCCACTCCAAACT	0.592													7	76	---	---	---	---					
PPL	5493	broad.mit.edu	37	16	4944500	4944500	+	Frame_Shift_Del	DEL	G	-	-	rs147027769		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:4944500delG	uc002cyd.1	-	11	1452	c.1362delC	c.(1360-1362)cccfs	p.P454fs		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	454					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.T455fs*4(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CAGGGTCTGTGGGGGGGATCA	0.612													17	66	---	---	---	---					
SLC12A4	6560	broad.mit.edu	37	16	67984313	67984315	+	In_Frame_Del	DEL	AAG	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67984313_67984315delAAG	uc010vkj.1	-	10	1582_1584	c.1542_1544delCTT	c.(1540-1545)ttcttt>ttt	p.514_515FF>F	SLC12A4_uc010ceu.2_In_Frame_Del_p.506_507FF>F|SLC12A4_uc010vkh.1_In_Frame_Del_p.481_482FF>F|SLC12A4_uc002euz.2_In_Frame_Del_p.512_513FF>F|SLC12A4_uc010vki.1_In_Frame_Del_p.512_513FF>F|SLC12A4_uc002eva.2_In_Frame_Del_p.512_513FF>F|SLC12A4_uc010cev.1_5'Flank|SLC12A4_uc002evb.2_Non-coding_Transcript	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	512					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACACGTTGAAAAGAAGGAGCCGA	0.621													19	43	---	---	---	---					
DHX38	9785	broad.mit.edu	37	16	72142749	72142749	+	Frame_Shift_Del	DEL	C	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72142749delC	uc002fcb.3	+	23	3661	c.3306delC	c.(3304-3306)cacfs	p.H1102fs	DHX38_uc010vmp.2_Frame_Shift_Del_p.H414fs	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	1102					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GCCACTTGCACCCCACCAGCT	0.527													8	36	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72991758	72991758	+	Frame_Shift_Del	DEL	C	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72991758delC	uc002fck.3	-	1	2960	c.2287delG	c.(2287-2289)gagfs	p.E763fs	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	763					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGACCTGCTCCCCCCCTCCA	0.622													21	41	---	---	---	---					
ANKRD11	29123	broad.mit.edu	37	16	89349355	89349356	+	Frame_Shift_Ins	INS	-	T	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:89349355_89349356insT	uc002fmx.1	-	8	4055_4056	c.3594_3595insA	c.(3592-3597)aaagagfs	p.K1198fs	ANKRD11_uc002fmy.1_Frame_Shift_Ins_p.K1198fs|ANKRD11_uc002fnc.1_Frame_Shift_Ins_p.K1198fs|ANKRD11_uc002fnb.1_Frame_Shift_Ins_p.K1155fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1198	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAGACTTTCTCTTTTTTGTCTC	0.515													16	100	---	---	---	---					
MYH4	4622	broad.mit.edu	37	17	10360835	10360835	+	Frame_Shift_Del	DEL	T	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:10360835delT	uc002gmn.3	-	15	1910	c.1799delA	c.(1798-1800)aacfs	p.N600fs	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	600	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGGTCCTTGTTTTTGTCCAG	0.562													11	68	---	---	---	---					
TBC1D26	353149	broad.mit.edu	37	17	15641312	15641313	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:15641312_15641313delAA	uc010cov.3	+	5	450_451	c.200_201delAA	c.(199-201)caafs	p.Q67fs	TBC1D26_uc010cou.1_Frame_Shift_Del_p.Q67fs|TBC1D26_uc002gpb.4_Non-coding_Transcript	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN	Homo sapiens TBC1 domain family, member 26 (TBC1D26), mRNA.	67						intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		ATTTGACAGCAAAGACGCAAGG	0.540													9	48	---	---	---	---					
NCOR1	9611	broad.mit.edu	37	17	15973813	15973815	+	In_Frame_Del	DEL	GTT	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:15973813_15973815delGTT	uc002gpo.3	-	30	4446_4448	c.4177_4179delAAC	c.(4177-4179)aacdel	p.N1393del	NCOR1_uc002gpn.3_In_Frame_Del_p.N1409del|NCOR1_uc002gpp.1_In_Frame_Del_p.N1300del|NCOR1_uc002gpm.3_5'Flank|NCOR1_uc010vwb.2_5'UTR|NCOR1_uc010coy.3_In_Frame_Del_p.N301del|NCOR1_uc010vwc.2_In_Frame_Del_p.N204del	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1393	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATTGACCTGAGTTGTTGTCAAAC	0.448													12	52	---	---	---	---					
ANKFN1	162282	broad.mit.edu	37	17	54428180	54428181	+	Frame_Shift_Ins	INS	-	A	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:54428180_54428181insA	uc002iun.1	+	3	286_287	c.251_252insA	c.(250-252)tcafs	p.S84fs		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	84										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTCTGTCAGTCAAAAAAACATA	0.426													13	62	---	---	---	---					
TBX4	9496	broad.mit.edu	37	17	59560564	59560565	+	Frame_Shift_Ins	INS	-	C	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:59560564_59560565insC	uc010ddo.3	+	8	1491_1492	c.1328_1329insC	c.(1327-1329)ttcfs	p.F443fs	TBX4_uc002izi.3_Frame_Shift_Ins_p.F442fs|TBX4_uc010woy.2_Frame_Shift_Ins_p.F443fs	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	442					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TACCAGCCCTTCCCCACGCACT	0.609													13	102	---	---	---	---					
ALPK2	115701	broad.mit.edu	37	18	56246941	56246941	+	Frame_Shift_Del	DEL	A	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:56246941delA	uc002lhj.4	-	3	1281	c.1067delT	c.(1066-1068)ttafs	p.L356fs		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	356							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						GCTTTCTAATAAAAAAACATG	0.478											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	56	---	---	---	---					
NWD1	284434	broad.mit.edu	37	19	16860827	16860827	+	Frame_Shift_Del	DEL	C	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:16860827delC	uc002neu.4	+	5	1796	c.1374delC	c.(1372-1374)tgcfs	p.C458fs	NWD1_uc002net.4_Frame_Shift_Del_p.C323fs|NWD1_uc002nev.4_Frame_Shift_Del_p.C252fs|NWD1_uc021uqg.1_Frame_Shift_Del_p.C323fs	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	458	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						CTCTCAACTGCCCCCCGAGGG	0.632													18	79	---	---	---	---					
ZNF30	90075	broad.mit.edu	37	19	35435346	35435347	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:35435346_35435347delTT	uc010edq.1	+	4	1857_1858	c.1479_1480delTT	c.(1477-1482)acttttfs	p.T493fs	ZNF30_uc002nxf.2_Frame_Shift_Del_p.T411fs|ZNF30_uc010edp.1_Frame_Shift_Del_p.T492fs|ZNF30_uc010edr.1_Frame_Shift_Del_p.T493fs	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	492				F -> L (in Ref. 2; CAE45802).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GTGGAAAGACTTTTAGTCGAGC	0.450													12	42	---	---	---	---					
ARHGAP35	2909	broad.mit.edu	37	19	47424502	47424502	+	Frame_Shift_Del	DEL	T	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:47424502delT	uc010ekv.3	+	0	2570	c.2570delT	c.(2569-2571)gttfs	p.V857fs		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	857					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GGGTACATTGTTTTTTATTCA	0.433													13	71	---	---	---	---					
SIGLEC6	946	broad.mit.edu	37	19	52034107	52034107	+	Frame_Shift_Del	DEL	G	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:52034107delG	uc002pwy.3	-	2	742	c.534delC	c.(532-534)cccfs	p.P178fs	SIGLEC6_uc002pwz.3_Frame_Shift_Del_p.P178fs|SIGLEC6_uc010ydb.2_Frame_Shift_Del_p.P142fs|SIGLEC6_uc010ydc.2_Frame_Shift_Del_p.P178fs|SIGLEC6_uc002pxa.3_Frame_Shift_Del_p.P178fs|SIGLEC6_uc010eoz.2_Frame_Shift_Del_p.P167fs|SIGLEC6_uc010epa.2_Frame_Shift_Del_p.P167fs|SIGLEC6_uc010epb.2_Frame_Shift_Del_p.P131fs	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	178	Ig-like C2-type 1.				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)		AGGAGAAGATGGGGGGCGTCC	0.662													18	103	---	---	---	---					
ZNF175	7728	broad.mit.edu	37	19	52091407	52091408	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:52091407_52091408delCT	uc002pxb.3	+	4	2201_2202	c.1823_1824delCT	c.(1822-1824)actfs	p.T608fs	AX748312_uc002pxc.1_5'Flank	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	Homo sapiens zinc finger protein 175 (ZNF175), mRNA.	608					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CATCAAATAACTCACACTAGAG	0.436													17	122	---	---	---	---					
ESF1	51575	broad.mit.edu	37	20	13714387	13714388	+	Frame_Shift_Ins	INS	-	T	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:13714387_13714388insT	uc002woj.3	-	9	2038_2039	c.1930_1931insA	c.(1930-1932)agafs	p.R644fs		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	644	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CCTTTTCAGTCTTTTTTTCTCT	0.347													9	19	---	---	---	---					
CD93	22918	broad.mit.edu	37	20	23065887	23065887	+	Frame_Shift_Del	DEL	C	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:23065887delC	uc002wsv.3	-	0	1091	c.943delG	c.(943-945)gccfs	p.A315fs		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	315	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACGCACGTGGCCCCCCCACGA	0.637													19	75	---	---	---	---					
TCFL5	10732	broad.mit.edu	37	20	61492658	61492658	+	Frame_Shift_Del	DEL	C	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61492658delC	uc002ydp.3	-	0	458	c.365delG	c.(364-366)ggcfs	p.G122fs	TCFL5_uc002ydo.3_5'Flank|TCFL5_uc002ydq.3_Frame_Shift_Del_p.G122fs	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	Homo sapiens transcription factor-like 5 (basic helix-loop-helix) (TCFL5), mRNA.	122	Ala-rich.				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GTCGATGTGGCCCAGGCAGGG	0.786													2	4	---	---	---	---					
CHRNA4	1137	broad.mit.edu	37	20	61981807	61981808	+	Frame_Shift_Ins	INS	-	G	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61981807_61981808insG	uc002yes.2	-	4	1133_1134	c.955_956insC	c.(955-957)ctgfs	p.L319fs	CHRNA4_uc002yet.1_Frame_Shift_Ins_p.L143fs|CHRNA4_uc010gke.1_Frame_Shift_Ins_p.L248fs|CHRNA4_uc002yev.1_Frame_Shift_Ins_p.L143fs|CHRNA4_uc010gkf.1_Frame_Shift_Ins_p.L143fs	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	319					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GACGATGGACAGGGTGACGAAG	0.599													14	90	---	---	---	---					
MORC3	23515	broad.mit.edu	37	21	37741614	37741614	+	Frame_Shift_Del	DEL	A	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:37741614delA	uc002yvi.3	+	14	2024	c.1948delA	c.(1948-1950)aaafs	p.K650fs		NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	650					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	PML body|aggresome|intermediate filament cytoskeleton	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TTTAGTTGTTAAAAAAGAAGA	0.448													15	68	---	---	---	---					
TEX33	339669	broad.mit.edu	37	22	37387299	37387299	+	Frame_Shift_Del	DEL	T	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37387299delT	uc003aqf.3	-	5	910	c.764delA	c.(763-765)aatfs	p.N255fs	TEX33_uc003aqe.3_Frame_Shift_Del_p.N170fs	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	255																	GTTCATAGCATTTTTCTGGTG	0.493													7	53	---	---	---	---					
RPL3	6122	broad.mit.edu	37	22	39712828	39712830	+	In_Frame_Del	DEL	CTT	-	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:39712828_39712830delCTT	uc003axi.3	-	3	450_452	c.382_384delAAG	c.(382-384)aagdel	p.K128del	RPL3_uc003axh.3_Splice_Site_p.K128_splice|RPL3_uc003axj.3_5'UTR	NM_000967	NP_000958	P39023	RL3_HUMAN	Homo sapiens ribosomal protein L3 (RPL3), transcript variant 1, mRNA.	128					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					TGGTAAAGGCCTTCTTCTTAGAT	0.547											OREG0026575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	80	---	---	---	---					
