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
ITGA9	3680	broad.mit.edu	37	3	37512580	37512580	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:37512580C>G	ENST00000264741.5	+	2	524	c.268C>G	c.(268-270)Cac>Gac	p.H90D	ITGA9_ENST00000422441.1_Missense_Mutation_p.H90D	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	90					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GTGCCGTGTTCACACCAACCC	0.532000													19	46					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24582657	24582657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:24582657C>T	ENST00000319715.4	+	18	4702	c.4270C>T	c.(4270-4272)Cag>Tag	p.Q1424*	RBBP6_ENST00000348022.2_Nonsense_Mutation_p.Q1390*|RBBP6_ENST00000381039.3_Nonsense_Mutation_p.Q584*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1424					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GAACAGCACTCAGCCAGAGAA	0.383000													21	40					0	0	1	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709209	38709209	+	RNA	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:38709209C>G	ENST00000417039.1	-	0	696																											GGAAAACAACCCAGCTCTGGA	0.557000													10	49					0	0	1	0	0
PABPN1L	390748	broad.mit.edu	37	16	88931997	88931997	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:88931997C>T	ENST00000419291.2	-	3	444	c.433G>A	c.(433-435)Gac>Aac	p.D145N	PABPN1L_ENST00000378358.4_Missense_Mutation_p.D145N|PABPN1L_ENST00000411789.2_Missense_Mutation_p.D145N|PABPN1L_ENST00000427766.1_Missense_Mutation_p.D145N	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	145						cytoplasm	nucleotide binding|RNA binding			kidney(1)	1						GATCTGTGGTCAGCCTCCACC	0.677000													9	36					0	0	1	0	0
BRCC3	79184	broad.mit.edu	37	X	154327654	154327654	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:154327654G>A	ENST00000369462.1	+	8	638	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000340647.4_Intron|BRCC3_ENST00000369459.2_Intron|BRCC3_ENST00000399042.1_Missense_Mutation_p.E205K|BRCC3_ENST00000330045.7_Intron	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	205					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					gggccagaaggaagaggaaag	0.517000													16	7					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178414680	178414680	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:178414680G>A	ENST00000448150.3	+	9	2274	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	RASAL2_ENST00000367649.3_Missense_Mutation_p.E504K|RASAL2_ENST00000462775.1_Missense_Mutation_p.E356K	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	356	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGTGATGTCTGAGGTGGATCG	0.393000													59	98					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95158249	95158249	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:95158249C>A	ENST00000027335.3	-	15	2198	c.2074G>T	c.(2074-2076)Gat>Tat	p.D692Y	CDH17_ENST00000441892.2_Missense_Mutation_p.D478Y|CDH17_ENST00000450165.2_Missense_Mutation_p.D692Y	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	692	Cadherin 7.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGATCATCATCAGTAGCCTCG	0.488000													20	40					1.96292e-10	2.10573e-10	1	1	0
MACF1	23499	broad.mit.edu	37	1	39927575	39927575	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:39927575G>C	ENST00000564288.1	+	93	22321	c.21544G>C	c.(21544-21546)Gag>Cag	p.E7182Q	MACF1_ENST00000361689.2_Missense_Mutation_p.E5123Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E5123Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E4993Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E7219Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E5123Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E7081Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E5625Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7081	C-terminal tail (By similarity).|GAR.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CACCAAGTTAGAGATGACTGC	0.403000													57	118					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76124591	76124591	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:76124591G>C	ENST00000393004.2	-	2	319	c.98C>G	c.(97-99)tCa>tGa	p.S33*	FILIP1_ENST00000237172.7_Nonsense_Mutation_p.S33*			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	33										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGCATCTTCTGAGAGACTTTT	0.443000													18	87					0	0	1	0	0
LINC00475	158314	broad.mit.edu	37	9	94903865	94903865	+	RNA	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:94903865C>T	ENST00000416438.2	+	0	117					NR_027341.1																						ATCATGCTGTCTGCCGACTGC	0.711000													6	3					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87174303	87174303	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:87174303C>T	ENST00000265724.3	-	17	2317	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	ABCB1_ENST00000543898.1_Missense_Mutation_p.E570K	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	634					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AATTCAACTTCATTTCCTGCT	0.328000													10	23					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212483	8212483	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:8212483G>C	ENST00000307637.4	-	2	502	c.299C>G	c.(298-300)tCc>tGc	p.S100C		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	100					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GACAATGATGGAGGGGATGAG	0.547000													21	30					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135202259	135202259	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:135202259C>T	ENST00000372169.2	-	10	4908	c.4726G>A	c.(4726-4728)Gaa>Aaa	p.E1576K	SETX_ENST00000393220.1_Missense_Mutation_p.E1576K|SETX_ENST00000224140.5_Missense_Mutation_p.E1576K			Q7Z333	SETX_HUMAN	senataxin	1576					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATACATCTTCATCTGCTGCT	0.413000													54	37					0	0	1	0	0
TMED6	146456	broad.mit.edu	37	16	69385568	69385568	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:69385568G>C	ENST00000288025.3	-	1	144	c.89C>G	c.(88-90)tCt>tGt	p.S30C	RP11-343C2.7_ENST00000564737.1_Silent_p.L22L|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	30					transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						CTGGTCCCCAGAGCCACTTAG	0.547000													38	131					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377090	113377090	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:113377090C>G	ENST00000316407.4	-	7	3849	c.3439G>C	c.(3439-3441)Gag>Cag	p.E1147Q	KIAA2018_ENST00000478658.1_Missense_Mutation_p.E1147Q|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1147					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTCCCCTTCTCAAGGTTCTCC	0.448000													44	76					0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19459745	19459745	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:19459745C>T	ENST00000262815.8	+	14	1395	c.1356C>T	c.(1354-1356)gtC>gtT	p.V452V	MAU2_ENST00000392313.6_Silent_p.V452V			Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	452					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GCTTCCCTGTCAGGTGAGCCG	0.622000													22	69					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202251164	202251164	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:202251164G>T	ENST00000332624.3	-	14	2168	c.1740C>A	c.(1738-1740)aaC>aaA	p.N580K		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	580				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TGGTTCCCAAGTTTGGTTGAG	0.438000													34	48					6.05902e-23	6.74055e-23	1	1	0
RAB11FIP4	84440	broad.mit.edu	37	17	29855790	29855790	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:29855790C>G	ENST00000325874.8	+	13	1876	c.1647C>G	c.(1645-1647)ctC>ctG	p.L549L	RAB11FIP4_ENST00000394744.2_Silent_p.L447L	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	549	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TCAAGCGGCTCAAGCAGGTGG	0.677000													5	20					0	0	1	0	0
ADPRH	141	broad.mit.edu	37	3	119306404	119306404	+	Silent	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:119306404G>T	ENST00000478399.1	+	4	2158	c.753G>T	c.(751-753)gtG>gtT	p.V251V	ADPRH_ENST00000465513.1_Silent_p.V251V|ADPRH_ENST00000357003.3_Silent_p.V251V|ADPRH_ENST00000478927.1_Silent_p.V251V|ADPRH_ENST00000471850.1_3'UTR			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	251					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CTTTCGGTGTGAAGGAGAGGG	0.512000													14	63					1.3612e-06	1.4153e-06	1	1	0
TCIRG1	10312	broad.mit.edu	37	11	67812527	67812527	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:67812527G>A	ENST00000265686.3	+	10	1231	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M	TCIRG1_ENST00000532635.1_Missense_Mutation_p.V159M	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	375					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CCAGGGCATCGTGGATGCCTA	0.682000													17	31					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96665587	96665587	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr13:96665587G>A	ENST00000376747.3	-	5	704	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	UGGT2_ENST00000376712.4_Silent_p.L212L|UGGT2_ENST00000376714.3_Silent_p.L212L|UGGT2_ENST00000397618.3_Silent_p.L212L|UGGT2_ENST00000467305.1_5'UTR	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	212					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	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						AGAACATACAGAATTTCCTCA	0.348000													24	61					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104033919	104033919	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:104033919G>C	ENST00000388887.2	+	9	1129	c.925G>C	c.(925-927)Gag>Cag	p.E309Q		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	309					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						CGAGTGTAAGGAGCATTACCA	0.403000													21	59					0	0	1	0	0
VMO1	284013	broad.mit.edu	37	17	4689474	4689474	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:4689474G>A	ENST00000328739.5	-	1	253	c.174C>T	c.(172-174)ttC>ttT	p.F58F	VMO1_ENST00000441199.2_Silent_p.F58F|VMO1_ENST00000416307.2_Silent_p.F58F|VMO1_ENST00000354194.4_Silent_p.F58F	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	58					vitelline membrane formation	extracellular region				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						ACCCGCTGGCGAAGAATCCAT	0.627000													13	14					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35467775	35467775	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:35467775G>A	ENST00000237536.4	-	2	1098	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	SOGA1_ENST00000357779.3_Nonsense_Mutation_p.Q15*|SOGA1_ENST00000279034.6_Nonsense_Mutation_p.Q15*	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	15										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCCTGCAGCTGATACACGTCC	0.642000													28	50					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158647531	158647531	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:158647531C>G	ENST00000368147.4	-	7	1086	c.906G>C	c.(904-906)ctG>ctC	p.L302L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GACTGTGAAACAGTCCTTCAG	0.483000													4	29					0	0	1	0	0
TMEM135	65084	broad.mit.edu	37	11	87020647	87020647	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:87020647C>G	ENST00000340353.7	+	9	1005	c.803C>G	c.(802-804)tCt>tGt	p.S268C	TMEM135_ENST00000305494.5_Missense_Mutation_p.S290C|TMEM135_ENST00000532959.1_Missense_Mutation_p.S161C|TMEM135_ENST00000535167.1_Missense_Mutation_p.S151C	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	290						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CGGCTACTTTCTCTCTTCTAC	0.418000													6	117					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62490138	62490138	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:62490138C>G	ENST00000301785.5	-	6	1222	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E344Q	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	344	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGTCCATTTTCTGCCTTGAGT	0.428000													14	51					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47219559	47219559	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:47219559G>A	ENST00000433867.1	-	2	546	c.69C>T	c.(67-69)ccC>ccT	p.P23P	PRKD2_ENST00000291281.4_Silent_p.P23P|PRKD2_ENST00000601806.1_Intron|PRKD2_ENST00000595515.1_Silent_p.P23P	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	23					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	p.G24fs*60(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CTAGGCCGCCGGGGGGCGGAG	0.756000													9	22					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34517426	34517426	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:34517426C>T	ENST00000242317.4	+	19	2133	c.1962C>T	c.(1960-1962)atC>atT	p.I654I		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	654					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GGCACATCATCAGCCTCAAGC	0.552000									Kartagener syndrome				20	25					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73923544	73923544	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:73923544G>A	ENST00000586717.1	-	8	698	c.425C>T	c.(424-426)tCc>tTc	p.S142F	FBF1_ENST00000319129.5_Missense_Mutation_p.S142F|FBF1_ENST00000389570.4_Missense_Mutation_p.S142F			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	142										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						ACCTTCAGAGGAAAACCTCCT	0.597000													3	8					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26839562	26839562	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:26839562C>T	ENST00000381340.3	-	11	1416	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	334	MIR 4.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGGACTCCATCTCTCTGTTGA	0.388000													39	96					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11118698	11118698	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:11118698G>C	ENST00000358026.2	+	14	2406	c.2122G>C	c.(2122-2124)Gag>Cag	p.E708Q	SMARCA4_ENST00000429416.3_Splice_Site_p.E708Q|SMARCA4_ENST00000444061.3_Splice_Site_p.E708Q|SMARCA4_ENST00000590574.1_Splice_Site_p.E708Q|SMARCA4_ENST00000450717.3_Splice_Site_p.E708Q|SMARCA4_ENST00000589677.1_Splice_Site_p.E708Q|SMARCA4_ENST00000413806.3_Splice_Site_p.E708Q|SMARCA4_ENST00000344626.4_Splice_Site_p.E708Q|SMARCA4_ENST00000541122.2_Splice_Site_p.E708Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	708					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCACATCATTGAGTAAGGGGT	0.592000			"""F, N, Mis"""		NSCLC								5	8					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354341	45354341	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:45354341C>G	ENST00000359271.2	+	2	916	c.666C>G	c.(664-666)ttC>ttG	p.F222L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	222						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGGACCTCTTCAGGGCACGCG	0.627000													24	66					0	0	1	0	0
SLC25A24	29957	broad.mit.edu	37	1	108697741	108697741	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:108697741G>C	ENST00000565488.1	-	6	905	c.686C>G	c.(685-687)tCa>tGa	p.S229*	SLC25A24_ENST00000370041.4_Nonsense_Mutation_p.S210*	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	229					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CATTTTGTCTGATTTTGAACC	0.358000													16	11					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139892431	139892431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:139892431C>T	ENST00000297183.6	+	23	4247	c.4123C>T	c.(4123-4125)Caa>Taa	p.Q1375*	ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.Q1375*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.Q1375*	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGTTGTTCAATATTTGGT	0.289000													48	47					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38128936	38128936	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr21:38128936C>G	ENST00000399120.1	-	11	3146	c.1916G>C	c.(1915-1917)aGa>aCa	p.R639T	HLCS_ENST00000336648.4_Missense_Mutation_p.R639T	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	639					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)	AGTCACGACTCTGGCGATGAG	0.478000													36	87					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223983999	223983999	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:223983999C>T	ENST00000391878.2	-	14	2623	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.E748K|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	742					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTAGGACCCTCTGGCTCTGTA	0.473000													30	75					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150648813	150648813	+	Silent	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:150648813G>T	ENST00000392968.2	-	5	2500	c.1380C>A	c.(1378-1380)acC>acA	p.T460T	KCNH2_ENST00000430723.3_Silent_p.T556T|KCNH2_ENST00000262186.5_Silent_p.T556T|KCNH2_ENST00000330883.4_Silent_p.T216T			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	556					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			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)	TGAGCGCAAAGGTGCACATGA	0.637000													21	31					6.44725e-10	6.87086e-10	1	1	0
FBLN7	129804	broad.mit.edu	37	2	112944793	112944793	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:112944793C>G	ENST00000331203.2	+	8	1301	c.1030C>G	c.(1030-1032)Ctg>Gtg	p.L344V	FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Missense_Mutation_p.L210V|FBLN7_ENST00000409450.3_Missense_Mutation_p.L298V	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	344					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TTACCTCTCTCTGCCTTCCAA	0.647000													35	48					0	0	1	0	0
CASC4	113201	broad.mit.edu	37	15	44629992	44629992	+	Nonsense_Mutation	SNP	G	G	T	rs140660671		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:44629992G>T	ENST00000360824.3	+	4	787	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	CASC4_ENST00000345795.2_Missense_Mutation_p.G203V|CASC4_ENST00000299957.6_Missense_Mutation_p.G203V			Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	0						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TCAAATGATGGAAAGGAATTG	0.303000													8	40					0.000274275	0.000281566	1	1	0
CLIP1	6249	broad.mit.edu	37	12	122839757	122839757	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:122839757C>G	ENST00000358808.2	-	6	1262	c.1108G>C	c.(1108-1110)Gaa>Caa	p.E370Q	CLIP1_ENST00000540338.1_Missense_Mutation_p.E370Q|CLIP1_ENST00000361654.4_Missense_Mutation_p.E370Q|CLIP1_ENST00000302528.7_Missense_Mutation_p.E370Q|CLIP1_ENST00000537178.1_Missense_Mutation_p.E370Q|CLIP1_ENST00000545889.1_Missense_Mutation_p.E71Q	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	370					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AGATCCCGTTCCGCCAGCAGC	0.632000													30	45					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922405	37922405	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:37922405C>T	ENST00000346872.3	-	8	1229	c.1168G>A	c.(1168-1170)Gac>Aac	p.D390N	IKZF3_ENST00000377944.3_Missense_Mutation_p.D247N|IKZF3_ENST00000467757.1_Missense_Mutation_p.D334N|IKZF3_ENST00000535189.1_Missense_Mutation_p.D356N|IKZF3_ENST00000351680.3_Missense_Mutation_p.D351N|IKZF3_ENST00000394189.2_Missense_Mutation_p.D208N|IKZF3_ENST00000350532.3_Missense_Mutation_p.D351N|IKZF3_ENST00000377958.2_Missense_Mutation_p.D303N|IKZF3_ENST00000377952.2_Missense_Mutation_p.D169N|IKZF3_ENST00000583368.1_Missense_Mutation_p.D143N|IKZF3_ENST00000439167.2_Missense_Mutation_p.D317N|IKZF3_ENST00000346243.3_Missense_Mutation_p.D312N|IKZF3_ENST00000377945.3_Missense_Mutation_p.D256N|IKZF3_ENST00000439016.2_Missense_Mutation_p.D295N	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	390					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGTTGCTGTCAGTGTCCGTG	0.532000													32	78					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60042743	60042743	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:60042743G>A	ENST00000397786.2	-	20	4544	c.4468C>T	c.(4468-4470)Cca>Tca	p.P1490S		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1490					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATCTGAGGTGGAGTAATCAAA	0.443000													28	54					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64469819	64469819	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr14:64469819G>C	ENST00000358025.3	+	30	4398	c.4168G>C	c.(4168-4170)Gat>Cat	p.D1390H	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.D1390H|SYNE2_ENST00000554584.1_Missense_Mutation_p.D1390H	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1390					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGCTTTAAAGATGCTGAACG	0.393000													28	31					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5757408	5757408	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:5757408C>T	ENST00000414202.2	+	17	2140	c.1949C>T	c.(1948-1950)tCa>tTa	p.S650L	KIAA1432_ENST00000418622.3_Missense_Mutation_p.S571L|KIAA1432_ENST00000449720.2_Missense_Mutation_p.S534L|KIAA1432_ENST00000251879.6_Missense_Mutation_p.S650L|KIAA1432_ENST00000381532.2_Missense_Mutation_p.S571L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	650						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)		ACTCTGACATCAGTGAGTACA	0.418000													43	33					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57113937	57113937	+	Silent	SNP	T	T	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:57113937T>A	ENST00000454682.1	-	3	1658	c.1377A>T	c.(1375-1377)gtA>gtT	p.V459V	NACA_ENST00000550952.1_Silent_p.V459V|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CACAAGTAGCTACCTCAAAGG	0.498000			T	BCL6	NHL								20	54					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70465092	70465092	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:70465092C>G	ENST00000503640.1	-	2	791	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	UGT2A1_ENST00000514019.1_Missense_Mutation_p.E456Q|UGT2A2_ENST00000457664.2_Missense_Mutation_p.E255Q|UGT2A1_ENST00000286604.4_Missense_Mutation_p.E290Q|UGT2A1_ENST00000512704.1_Missense_Mutation_p.E246Q|UGT2A1_ENST00000502343.1_5'UTR	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	246					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCCATAGTCTCACATAACGTA	0.373000													18	36					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62176440	62176440	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:62176440T>C	ENST00000261517.5	-	68	9443	c.9370A>G	c.(9370-9372)Aag>Gag	p.K3124E	VPS13C_ENST00000395896.4_Missense_Mutation_p.K3124E|VPS13C_ENST00000249837.3_Missense_Mutation_p.K3081E|VPS13C_ENST00000395898.3_Missense_Mutation_p.K3081E	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3124					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATTTCTGCTTTGGTTTCACC	0.338000													11	26					0	0	1	0	0
DEFB115	245929	broad.mit.edu	37	20	29847376	29847376	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:29847376G>C	ENST00000400552.1	+	2	208	c.208G>C	c.(208-210)Gaa>Caa	p.E70Q		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	70					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			TGTCCCTAAAGAAAAGGATAA	0.353000													13	29					0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129870396	129870396	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:129870396C>T	ENST00000373425.3	-	2	1232	c.615G>A	c.(613-615)caG>caA	p.Q205Q	RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	205					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AGGGCACCCTCTGGCAGTGCT	0.637000													5	33					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49426075	49426075	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:49426075G>T	ENST00000301067.7	-	39	12412	c.12413C>A	c.(12412-12414)tCt>tAt	p.S4138Y		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TAAGGAAACAGAGGGCTGAGC	0.587000													8	23					1.12685e-05	1.16566e-05	1	1	0
COL13A1	1305	broad.mit.edu	37	10	71647228	71647228	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:71647228G>C	ENST00000356340.3	+	6	1039	c.503G>C	c.(502-504)aGa>aCa	p.R168T	COL13A1_ENST00000354547.3_Missense_Mutation_p.R168T|COL13A1_ENST00000398974.3_Missense_Mutation_p.R156T|COL13A1_ENST00000398972.3_Missense_Mutation_p.R168T|COL13A1_ENST00000517713.1_Missense_Mutation_p.R168T|COL13A1_ENST00000398978.3_Missense_Mutation_p.R168T|COL13A1_ENST00000357811.3_Missense_Mutation_p.R168T|COL13A1_ENST00000398966.3_Missense_Mutation_p.R168T|COL13A1_ENST00000398968.3_Missense_Mutation_p.R168T|COL13A1_ENST00000398973.3_Missense_Mutation_p.R168T|COL13A1_ENST00000398971.3_Missense_Mutation_p.R168T|COL13A1_ENST00000398969.3_Missense_Mutation_p.R130T|COL13A1_ENST00000520267.1_Missense_Mutation_p.R130T|COL13A1_ENST00000520133.1_Missense_Mutation_p.R139T|COL13A1_ENST00000522165.1_Missense_Mutation_p.R168T|COL13A1_ENST00000398964.3_Missense_Mutation_p.R139T			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	168	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CCAGGAACTAGAGGTTTCCCT	0.488000													7	7					0	0	1	0	0
SNRPA1	6627	broad.mit.edu	37	15	101825954	101825954	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:101825954G>A	ENST00000254193.6	-	7	664	c.592C>T	c.(592-594)Cca>Tca	p.P198S		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	198						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACATCCCCTGGAGATGGCCCA	0.418000													23	20					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5757401	5757401	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:5757401C>G	ENST00000414202.2	+	17	2133	c.1942C>G	c.(1942-1944)Ctg>Gtg	p.L648V	KIAA1432_ENST00000418622.3_Missense_Mutation_p.L569V|KIAA1432_ENST00000449720.2_Missense_Mutation_p.L532V|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L648V|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L569V	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	648						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)		ATCTGTCACTCTGACATCAGT	0.413000													43	34					0	0	1	0	0
MGST1	4257	broad.mit.edu	37	12	16516931	16516931	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:16516931C>G	ENST00000396209.1	+	4	567	c.424C>G	c.(424-426)Ctt>Gtt	p.L142V	MGST1_ENST00000540056.1_3'UTR|MGST1_ENST00000010404.2_Missense_Mutation_p.L142V|MGST1_ENST00000396207.1_Missense_Mutation_p.L142V|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000396210.3_Missense_Mutation_p.L142V	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	142					protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	TGGAGTTACTCTTTCCATGGC	0.393000													32	77					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62496182	62496182	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:62496182C>T	ENST00000225792.5	-	13	2105	c.1704G>A	c.(1702-1704)caG>caA	p.Q568Q	DDX5_ENST00000578804.1_Silent_p.Q568Q|DDX5_ENST00000450599.2_Silent_p.Q489Q	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	568					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CATAACCATTCTGGTAAGTCC	0.428000			T	ETV4	prostate								31	59					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7765524	7765524	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:7765524G>T	ENST00000358415.4	+	9	1144	c.978G>T	c.(976-978)atG>atT	p.M326I	ITIH2_ENST00000379587.4_Missense_Mutation_p.M315I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	326	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GAGTTAAAATGAAACAAGTAA	0.453000													23	53					2.79863e-10	2.99827e-10	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152651957	152651957	+	Silent	SNP	C	C	T	rs112266645	byFrequency	TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:152651957C>T	ENST00000367255.5	-	78	14464	c.13863G>A	c.(13861-13863)acG>acA	p.T4621T	SYNE1_ENST00000341594.5_Silent_p.T4368T|SYNE1_ENST00000448038.1_Silent_p.T4550T|SYNE1_ENST00000265368.4_Silent_p.T4621T|SYNE1_ENST00000423061.1_Silent_p.T4550T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4621					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	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)		TTCTCTGCAGCGTAAGTAGAA	0.378000										HNSCC(10;0.0054)			17	90					0	0	1	0	0
ANKRD2	26287	broad.mit.edu	37	10	99343414	99343414	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:99343414G>A	ENST00000307518.5	+	9	1282	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	ANKRD2_ENST00000298808.5_Missense_Mutation_p.E306K|ANKRD2_ENST00000370655.1_Missense_Mutation_p.E312K|ANKRD2_ENST00000455090.1_Missense_Mutation_p.E279K			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	339					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GCCGGGGGCTGAGCATAACGG	0.687000													5	3					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259450	89259450	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:89259450C>G	ENST00000336596.2	+	3	819	c.594C>G	c.(592-594)taC>taG	p.Y198*	EPHA3_ENST00000452448.2_Nonsense_Mutation_p.Y198*|EPHA3_ENST00000494014.1_Nonsense_Mutation_p.Y198*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	198	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGAGAGTATACTTCAAAAAGT	0.453000										TSP Lung(6;0.00050)			41	87					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306655	133306655	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:133306655C>G	ENST00000539605.1	-	10	8591	c.1907G>C	c.(1906-1908)aGa>aCa	p.R636T	ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542657.1_Missense_Mutation_p.R53T|ANKLE2_ENST00000542282.1_Missense_Mutation_p.R53T|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R698T			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	698						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GAGCCCATTTCTGCTGCTGTG	0.622000													30	82					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400097	43400097	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:43400097C>G	ENST00000244533.3	+	1	609	c.250C>G	c.(250-252)Cat>Gat	p.H84D	ABCC10_ENST00000372530.4_Missense_Mutation_p.H127D|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	127						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACATTCCCCTCATGGCCACTC	0.652000													8	41					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306381	133306381	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:133306381C>T	ENST00000539605.1	-	10	8865	c.2181G>A	c.(2179-2181)agG>agA	p.R727R	ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542657.1_Silent_p.R144R|ANKLE2_ENST00000542282.1_Silent_p.R144R|ANKLE2_ENST00000357997.5_Silent_p.R789R			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	789						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CACTTTCTGTCCTCCTGTGGC	0.522000													18	57					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85434361	85434361	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:85434361G>A	ENST00000393217.2	+	3	287	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	76										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCAGGACCTGGAAGATACTGA	0.313000													34	77					0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72848237	72848237	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:72848237G>C	ENST00000293190.5	-	3	1059	c.913C>G	c.(913-915)Cgc>Ggc	p.R305G	GRIN2C_ENST00000578159.1_5'UTR|GRIN2C_ENST00000347612.4_Missense_Mutation_p.R305G	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	305					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CCATGCTGGCGCCAGTAGCTG	0.726000													3	9					0	0	1	0	0
MYBL1	4603	broad.mit.edu	37	8	67504749	67504749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:67504749C>A	ENST00000522677.3	-	8	1203	c.793G>T	c.(793-795)Gaa>Taa	p.E265*	MYBL1_ENST00000524176.2_Nonsense_Mutation_p.E265*|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	265	Transcriptional activation domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ATTTTCTTTTCCTTATCAGGA	0.289000													7	35					0.00307968	0.00313378	1	1	0
ABCC1	4363	broad.mit.edu	37	16	16208825	16208825	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:16208825C>T	ENST00000399408.2	+	24	3487	c.3312C>T	c.(3310-3312)ttC>ttT	p.F1104F	ABCC1_ENST00000399410.3_Silent_p.F1094F|ABCC1_ENST00000345148.5_Silent_p.F1094F|ABCC1_ENST00000349029.5_Silent_p.F979F|ABCC1_ENST00000351154.5_Silent_p.F1035F|ABCC1_ENST00000346370.5_Silent_p.F1038F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1094	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCAAGATGTTCATGGGCTCCC	0.577000													6	32					0	0	1	0	0
CRADD	8738	broad.mit.edu	37	12	94072788	94072788	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:94072788C>T	ENST00000542893.2	+	2	556	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	CRADD_ENST00000541813.1_Missense_Mutation_p.P80S|CRADD_ENST00000552033.1_Missense_Mutation_p.P80S|CRADD_ENST00000552983.1_Missense_Mutation_p.P80S|CRADD_ENST00000332896.3_Missense_Mutation_p.P80S|CRADD_ENST00000548483.1_Missense_Mutation_p.P80S			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	80	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						ACAGGAGTTTCCCTGGGTCAG	0.517000													18	54					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10626118	10626118	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:10626118C>T	ENST00000254958.5	-	16	2515		c.e16-1		JAG1_ENST00000423891.2_Splice_Site|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1						angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TCATTAATATCTAGAATCAAA	0.493000									Alagille Syndrome				11	39					0	0	1	0	0
TIMP2	7077	broad.mit.edu	37	17	76867036	76867036	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:76867036G>A	ENST00000262768.7	-	3	582	c.284C>T	c.(283-285)tCg>tTg	p.S95L	TIMP2_ENST00000585421.1_Missense_Mutation_p.S18L|TIMP2_ENST00000536189.2_Missense_Mutation_p.S18L|TIMP2_ENST00000586057.1_Missense_Mutation_p.S18L	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	95	Involved in metalloproteinase-binding.|NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			ACACACTGCCGAGGAGGGGGC	0.542000													25	68					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452567	130452567	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:130452567G>C	ENST00000356763.3	-	4	1832	c.1275C>G	c.(1273-1275)ttC>ttG	p.F425L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	425					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGTCATTGCTGAAATGCAAAA	0.408000													28	59					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201585	71201585	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:71201585G>C	ENST00000273936.5	+	1	903	c.829G>C	c.(829-831)Gac>Cac	p.D277H		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1							flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCTGAAAAAGACAAAGATAA	0.423000													7	45					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43044920	43044920	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:43044920C>A	ENST00000267890.6	-	14	2632	c.2524G>T	c.(2524-2526)Gag>Tag	p.E842*		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	842					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTCATTATCTCATTATTTTTG	0.388000													21	39					1.28384e-07	1.35045e-07	1	1	0
PRKCQ	5588	broad.mit.edu	37	10	6525400	6525400	+	Splice_Site	SNP	A	A	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:6525400A>T	ENST00000263125.5	-	11	1279		c.e11+1		PRKCQ_ENST00000397176.2_Splice_Site|PRKCQ_ENST00000539722.1_Splice_Site	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta						axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GCATTAGCTTACCTTGCCAAA	0.418000													48	97					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38926645	38926645	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:38926645C>T	ENST00000335552.4	-	3	589	c.541G>A	c.(541-543)Gct>Act	p.A181T		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	181	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TGGTGCAGAGCCAGCTCATTT	0.473000													27	66					0	0	1	0	0
JMJD4	65094	broad.mit.edu	37	1	227922985	227922985	+	Missense_Mutation	SNP	A	A	T	rs137953615		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:227922985A>T	ENST00000366758.3	-	1	127	c.128T>A	c.(127-129)gTg>gAg	p.V43E	JMJD4_ENST00000438896.2_Missense_Mutation_p.V43E|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000366759.4_De_novo_Start_InFrame|SNAP47_ENST00000315781.5_De_novo_Start_InFrame	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	43										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CCAGCTCAGCACGGGTCGAAG	0.716000													5	12					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153905478	153905478	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:153905478C>T	ENST00000361217.4	-	22	3900	c.3482G>A	c.(3481-3483)cGt>cAt	p.R1161H		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1161										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATCACAGGCACGGCACAGGGA	0.602000													18	40					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208866020	208866020	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:208866020G>A	ENST00000457206.1	-	2	771	c.344C>T	c.(343-345)tCa>tTa	p.S115L	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S115L|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.S115L			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	115					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTAAAGGTTGATGCTTCCTT	0.458000													21	74					0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26416530	26416530	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:26416530C>A	ENST00000380649.3	-	17	1930	c.1801G>T	c.(1801-1803)Gaa>Taa	p.E601*		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	601					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	CCCAGATCTTCCGCCACATGT	0.552000													116	140					1.45828e-52	1.64487e-52	1	1	0
ABCB1	5243	broad.mit.edu	37	7	87174279	87174279	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:87174279C>T	ENST00000265724.3	-	17	2341	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N	ABCB1_ENST00000543898.1_Missense_Mutation_p.D578N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	642					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTGGATTCATCAGCTGCATTT	0.348000													10	26					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50148189	50148189	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:50148189G>T	ENST00000347869.3	+	17	1616	c.1441G>T	c.(1441-1443)Gac>Tac	p.D481Y	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	481	Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCTATTATGACCCCAACTC	0.398000													27	52					7.01153e-11	7.5516e-11	1	1	0
FAT1	2195	broad.mit.edu	37	4	187534266	187534266	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:187534266C>T	ENST00000441802.2	-	13	9669	c.9460G>A	c.(9460-9462)Gca>Aca	p.A3154T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3154	Cadherin 29.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAGATACCTGCGTCGGCATCT	0.557000										HNSCC(5;0.00058)			4	22					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9042730	9042730	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:9042730G>C	ENST00000457346.2	-	23	3023	c.2949C>G	c.(2947-2949)atC>atG	p.I983M	SCUBE2_ENST00000450649.2_Missense_Mutation_p.I762M|SCUBE2_ENST00000309263.3_Missense_Mutation_p.I954M|SCUBE2_ENST00000520467.1_Missense_Mutation_p.I926M|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	954						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ACAGAGCCTTGATAAGTTTCT	0.403000													8	50					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35467783	35467783	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:35467783T>C	ENST00000237536.4	-	2	1090	c.749A>G	c.(748-750)gAc>gGc	p.D250G	SOGA1_ENST00000357779.3_Missense_Mutation_p.D12G|SOGA1_ENST00000279034.6_Missense_Mutation_p.D12G	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	12										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CTGATACACGTCCTCCTCCAT	0.637000													27	44					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60184402	60184402	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:60184402G>A	ENST00000300187.6	+	5	2238	c.1961G>A	c.(1960-1962)tGg>tAg	p.W654*	MS4A14_ENST00000531783.1_Nonsense_Mutation_p.W687*|MS4A14_ENST00000395005.2_Nonsense_Mutation_p.W637*|MS4A14_ENST00000531787.1_Nonsense_Mutation_p.W542*	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	654	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TACCAATTCTGGCAATTCCAC	0.463000													12	27					0	0	1	0	0
RNF14	9604	broad.mit.edu	37	5	141358302	141358302	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:141358302G>A	ENST00000394520.2	+	5	1050	c.741G>A	c.(739-741)ctG>ctA	p.L247L	AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_Silent_p.L121L|RNF14_ENST00000356143.1_Silent_p.L247L|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Silent_p.L247L|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000347642.3_Silent_p.L247L	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	247					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AAGCCTGTCTGAAGGACTACT	0.483000													4	114					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192251995	192251995	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:192251995C>G	ENST00000392318.3	+	17	1847	c.1600C>G	c.(1600-1602)Ctc>Gtc	p.L534V	MYO1B_ENST00000304164.4_Missense_Mutation_p.L534V|MYO1B_ENST00000339514.4_Missense_Mutation_p.L534V|MYO1B_ENST00000392316.1_Missense_Mutation_p.L534V	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	534	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CAATGACCTTCTCTATCGAGA	0.483000													38	71					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443089	150443089	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:150443089A>T	ENST00000401000.4	+	10	1652	c.1587A>T	c.(1585-1587)gaA>gaT	p.E529D	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.E529D|RPRD2_ENST00000369068.4_Missense_Mutation_p.E555D			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	555	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAGCCAGTGAAGCTGCCTCAC	0.473000													8	11					0	0	1	0	0
SH2B3	10019	broad.mit.edu	37	12	111885592	111885592	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:111885592C>T	ENST00000341259.2	+	7	1726	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	SH2B3_ENST00000538307.1_Missense_Mutation_p.R255W	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	457	SH2.				blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						CTGTGATGTCCGGCTCTCCAG	0.632000													8	31					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086859	39086859	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr21:39086859C>G	ENST00000609713.1	-	3	1190	c.601G>C	c.(601-603)Gag>Cag	p.E201Q	KCNJ6_ENST00000288309.6_Missense_Mutation_p.E201Q	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6						synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACCAGGGTCTCTGCCCTCTTC	0.473000													25	52					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7637997	7637997	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:7637997C>T	ENST00000359156.4	-	11	2676	c.2474G>A	c.(2473-2475)aGa>aAa	p.R825K	CD163_ENST00000432237.2_Missense_Mutation_p.R825K|CD163_ENST00000396620.3_Missense_Mutation_p.R858K|CD163_ENST00000541972.1_Missense_Mutation_p.R813K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	825	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACTGGTCAGTCTCAGAGACAT	0.458000													26	38					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209799085	209799085	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:209799085C>T	ENST00000391911.1	-	13	2273	c.1884G>A	c.(1882-1884)aaG>aaA	p.K628K	LAMB3_ENST00000356082.4_Silent_p.K628K|LAMB3_ENST00000367030.3_Silent_p.K628K	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	628	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CAATCTTACTCTTTGCATCTA	0.622000													10	69					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21969223	21969223	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr14:21969223G>C	ENST00000298717.4	-	5	1099	c.948C>G	c.(946-948)ttC>ttG	p.F316L	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	316					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ATGTATTAAGGAAAGAGCAGT	0.423000													12	17					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20865954	20865954	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:20865954C>G	ENST00000380249.1	+	19	2449	c.2085C>G	c.(2083-2085)ctC>ctG	p.L695L	FOCAD_ENST00000605086.1_Silent_p.L131L|FOCAD_ENST00000338382.6_Silent_p.L695L	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	695						integral to membrane	binding										TCAGCTTCCTCTGGACTCATA	0.318000													20	30					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128342382	128342382	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:128342382G>C	ENST00000389524.4	+	14	1637	c.1584G>C	c.(1582-1584)ctG>ctC	p.L528L	MYO7B_ENST00000409816.2_Silent_p.L528L|MYO7B_ENST00000428314.1_Silent_p.L528L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	528	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGCAAAAGCTGAACAGCGTCC	0.567000													28	52					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3240648	3240648	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:3240648G>A	ENST00000252032.9	-	32	2967	c.2900C>T	c.(2899-2901)tCa>tTa	p.S967L	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	967										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GGGATAGACTGATCCAGCATT	0.473000													8	29					0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108204254	108204254	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:108204254C>A	ENST00000369002.4	-	17	1950	c.1771G>T	c.(1771-1773)Gat>Tat	p.D591Y		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	591					protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TCACTACCATCATCTTTCTCA	0.348000													14	51					0.00400662	0.0040719	1	1	0
SIDT2	51092	broad.mit.edu	37	11	117053477	117053477	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:117053477C>T	ENST00000324225.4	+	6	1188	c.657C>T	c.(655-657)atC>atT	p.I219I	SIDT2_ENST00000431081.2_Silent_p.I219I|SIDT2_ENST00000530948.1_3'UTR	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	219						integral to membrane|lysosomal membrane		p.I219I(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TAGCCTTCATCGGCATGTACC	0.587000													8	17					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10939793	10939793	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:10939793G>T	ENST00000314646.5	+	19	2304	c.2140G>T	c.(2140-2142)Gac>Tac	p.D714Y	DNM2_ENST00000408974.4_Missense_Mutation_p.D710Y|DNM2_ENST00000389253.4_Missense_Mutation_p.D714Y|DNM2_ENST00000585892.1_Missense_Mutation_p.D714Y|DNM2_ENST00000355667.6_Missense_Mutation_p.D714Y|DNM2_ENST00000359692.6_Missense_Mutation_p.D710Y			P50570	DYN2_HUMAN	dynamin 2	714	GED.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GGAGTCGGCTGACCAGGCACA	0.632000			"""F, N, Splice, Mis, O"""		ETP ALL								9	16					3.09899e-07	3.23459e-07	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36339656	36339656	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:36339656C>T	ENST00000378910.5	-	9	1052	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	NPHS1_ENST00000353632.6_Silent_p.Q351Q	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	351	Ig-like C2-type 4.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGTTCTCAGTCTGGGATGCAG	0.572000													11	23					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58117734	58117734	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:58117734C>T	ENST00000332854.6	+	3	1061	c.841C>T	c.(841-843)Cac>Tac	p.H281Y	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCGCAAAACTCACCTAACTCA	0.433000													15	54					0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36960929	36960929	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr22:36960929C>G	ENST00000300105.6	-	4	1422	c.441G>C	c.(439-441)ctG>ctC	p.L147L		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	147					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.L147L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGATGTTACTCAGACCTGCGG	0.557000													48	43					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61571302	61571302	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:61571302G>A	ENST00000577647.1	+	10	1479	c.1434G>A	c.(1432-1434)ctG>ctA	p.L478L	ACE_ENST00000428043.1_Silent_p.L1052L|ACE_ENST00000490216.2_Silent_p.L478L|ACE_ENST00000413513.3_Silent_p.L478L|ACE_ENST00000290866.4_Silent_p.L1052L|ACE_ENST00000290863.6_Silent_p.L478L|ACE_ENST00000421982.2_Silent_p.L298L			P12821	ACE_HUMAN	angiotensin I converting enzyme	1052	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCAACTTTCTGATGAAGATGG	0.562000													17	26					0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	311495	311495	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:311495C>T	ENST00000399932.3	+	6	1141	c.690C>T	c.(688-690)ctC>ctT	p.L230L	ITFG3_ENST00000442458.2_Silent_p.L230L|ITFG3_ENST00000301679.2_Silent_p.L230L|ITFG3_ENST00000600536.1_Silent_p.L230L|ITFG3_ENST00000450082.2_Silent_p.L230L|ITFG3_ENST00000301678.3_Silent_p.L230L	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	230						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TGCTGGTTCTCACCCAGGAGC	0.652000													8	8					0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30676390	30676390	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:30676390G>A	ENST00000534862.1	+	11	1338	c.975G>A	c.(973-975)ctG>ctA	p.L325L	HCK_ENST00000538448.1_Silent_p.L324L|HCK_ENST00000375862.2_Silent_p.L344L|HCK_ENST00000375852.2_Silent_p.L345L|HCK_ENST00000520553.1_Silent_p.L324L|HCK_ENST00000518730.1_Silent_p.L323L	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	345	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGGACTTTCTGAAAAGTGATG	0.453000													28	52					0	0	1	0	0
C1orf227	149643	broad.mit.edu	37	1	213009360	213009360	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:213009360C>T	ENST00000332912.3	-	2	239	c.132G>A	c.(130-132)ctG>ctA	p.L44L		NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN	chromosome 1 open reading frame 227	44										kidney(1)|large_intestine(1)|lung(1)	3						TTTGAACTCTCAGTAAGCTGA	0.463000													38	91					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76378629	76378629	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr13:76378629G>A	ENST00000357063.3	+	9	2282	c.1022G>A	c.(1021-1023)aGa>aAa	p.R341K	LMO7_ENST00000526202.1_Missense_Mutation_p.R250K|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000321797.8_Missense_Mutation_p.R56K|LMO7_ENST00000377534.3_Missense_Mutation_p.R341K|LMO7_ENST00000465261.2_Missense_Mutation_p.R56K|LMO7_ENST00000341547.4_Missense_Mutation_p.R341K			Q8WWI1	LMO7_HUMAN	LIM domain 7	341						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GATAACAGAAGAAGTTGGGCA	0.408000													36	77					0	0	1	0	0
PACSIN3	29763	broad.mit.edu	37	11	47199592	47199592	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:47199592C>A	ENST00000539589.1	-	11	1507	c.1165G>T	c.(1165-1167)Gag>Tag	p.E389*	PACSIN3_ENST00000298838.6_Nonsense_Mutation_p.E389*	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	389	SH3.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						TTCAGCAGCTCCTCCCCTGGG	0.627000													4	11					1	1	1	1	0
DTX4	23220	broad.mit.edu	37	11	58972353	58972353	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:58972353G>A	ENST00000227451.3	+	9	1935	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	DTX4_ENST00000532982.1_Missense_Mutation_p.E505K	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	611					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GGGCATCTCTGAGGACAGCAC	0.552000													5	8					0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118244373	118244373	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:118244373C>G	ENST00000252108.3	+	8	1220	c.1089C>G	c.(1087-1089)atC>atG	p.I363M	UBE4A_ENST00000431736.2_Missense_Mutation_p.I370M	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	363					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCCAGGAGATCAAAGTACAGG	0.448000													33	53					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59761256	59761256	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:59761256C>T	ENST00000259008.2	-	20	3418	c.3151G>A	c.(3151-3153)Gat>Aat	p.D1051N		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1051	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TCACATTTATCAGTGAAGGGC	0.418000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					43	119					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806689	97806689	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:97806689T>C	ENST00000358642.2	+	1	673	c.673T>C	c.(673-675)Ttt>Ctt	p.F225L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TCGTGTGCTCTTTGATATTCT	0.378000													4	35					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56493443	56493443	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:56493443G>C	ENST00000267101.3	+	24	3291	c.2851G>C	c.(2851-2853)Gat>Cat	p.D951H	ERBB3_ENST00000415288.2_Missense_Mutation_p.D892H|ERBB3_ENST00000549832.1_Missense_Mutation_p.D71H|ERBB3_ENST00000553131.1_Missense_Mutation_p.D192H|ERBB3_ENST00000450146.2_Missense_Mutation_p.D308H	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	951	Protein kinase.				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|Schwann cell differentiation|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)			TTGGATGATTGATGAGAACAT	0.483000													22	68					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39228623	39228623	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:39228623C>T	ENST00000340369.3	-	2	2542	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K	XIRP1_ENST00000396251.1_Missense_Mutation_p.E772K|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	772							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)		AGGGTCCCCTCAGCTGCAGTC	0.632000													14	26					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9107780	9107780	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:9107780G>A	ENST00000377424.4	-	4	486	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	SLC2A5_ENST00000377414.3_Silent_p.L103L|SLC2A5_ENST00000536305.1_Silent_p.L44L|SLC2A5_ENST00000535586.1_5'UTR	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	103					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTTGAACAGCAAGGCCCCT	0.418000													51	102					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195452035	195452035	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:195452035C>T	ENST00000445522.2	+	1	938	c.456C>T	c.(454-456)atC>atT	p.I152I	MUC20_ENST00000320736.6_Intron|MUC20_ENST00000436408.1_Silent_p.I187I|MUC20_ENST00000447234.2_Silent_p.I187I			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	187			Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		ATCCAGTCATCACCCCGTCAC	0.627000													23	206					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913048	6913048	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:6913048C>T	ENST00000299459.2	-	1	782	c.684G>A	c.(682-684)atG>atA	p.M228I		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGTTGACTTCATCTTGACCA	0.433000													15	32					0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126146357	126146357	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:126146357G>A	ENST00000263578.5	+	9	1114	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_Missense_Mutation_p.G333E|FOXRED1_ENST00000442061.2_Missense_Mutation_p.G177E	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	347						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GACACCAGTGGAGCCTATTTT	0.567000													36	59					0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19603220	19603220	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:19603220G>C	ENST00000404158.1	+	5	793	c.375G>C	c.(373-375)ttG>ttC	p.L125F	GATAD2A_ENST00000360315.3_Missense_Mutation_p.L125F|GATAD2A_ENST00000429563.2_Intron|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000358713.3_Missense_Mutation_p.L125F|GATAD2A_ENST00000252577.5_Missense_Mutation_p.L125F|GATAD2A_ENST00000473184.1_3'UTR			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	125					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CGGTGGCCTTGAAGGAGACTA	0.632000													9	19					0	0	1	0	0
CXCL14	9547	broad.mit.edu	37	5	134914162	134914162	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:134914162C>G	ENST00000337225.5	-	2	632	c.168G>C	c.(166-168)atG>atC	p.M56I	CXCL14_ENST00000512158.1_Missense_Mutation_p.M44I|CTC-321K16.1_ENST00000509372.1_RNA	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	56					cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTTTGGCTTCATTTCCAGCT	0.587000													41	39					0	0	1	0	0
SUPT20H	55578	broad.mit.edu	37	13	37605947	37605947	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr13:37605947C>G	ENST00000360252.4	-	11	1043	c.796G>C	c.(796-798)Gat>Cat	p.D266H	SUPT20H_ENST00000464744.1_Missense_Mutation_p.D266H|SUPT20H_ENST00000475892.1_Missense_Mutation_p.D265H|SUPT20H_ENST00000350612.6_Missense_Mutation_p.D265H|SUPT20H_ENST00000542180.1_Missense_Mutation_p.D253H|SUPT20H_ENST00000356185.3_Missense_Mutation_p.D266H	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		TGTAAGAAATCAAGTAACCTC	0.358000													30	93					0	0	1	0	0
XRCC4	7518	broad.mit.edu	37	5	82554419	82554419	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:82554419G>C	ENST00000282268.3	+	7	991	c.816G>C	c.(814-816)agG>agC	p.R272S	XRCC4_ENST00000396027.4_Missense_Mutation_p.R272S|XRCC4_ENST00000338635.6_Missense_Mutation_p.R272S|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000511817.1_Missense_Mutation_p.R272S	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	272					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		GTAGAAAAAGGAGACAGCGAA	0.373000								Non-homologous end-joining					23	28					0	0	1	0	0
PDXK	8566	broad.mit.edu	37	21	45170415	45170415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr21:45170415G>T	ENST00000291565.4	+	7	682	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	PDXK_ENST00000468090.1_Nonsense_Mutation_p.E139*|PDXK_ENST00000467908.1_Nonsense_Mutation_p.E127*	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	167					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	CAGCCAGGAGGAAGCCTTGCG	0.657000													15	29					6.31663e-08	6.65297e-08	1	1	0
CASP2	835	broad.mit.edu	37	7	142989485	142989485	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:142989485G>A	ENST00000310447.5	+	3	559	c.318G>A	c.(316-318)ctG>ctA	p.L106L	CASP2_ENST00000493642.1_3'UTR|CASP2_ENST00000392925.2_Silent_p.L106L	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	106	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GTGAAGCACTGAGGGAGACCA	0.517000													29	62					0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18163827	18163827	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:18163827G>A	ENST00000435364.3	+	8	2210	c.1869G>A	c.(1867-1869)ctG>ctA	p.L623L	CSRP2BP_ENST00000377681.3_Silent_p.L622L|CSRP2BP_ENST00000489634.2_Silent_p.L495L	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein						histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTTCCCACCTGCACAGGAGCG	0.517000													23	60					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76495885	76495885	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:76495885G>C	ENST00000307431.8	+	10	1748	c.1363G>C	c.(1363-1365)Gtc>Ctc	p.V455L	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.V383L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.V459L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.V407L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	456	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.V431F(1)|p.V383F(1)|p.V455F(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GTGGCATTCTGTCTCTTTATC	0.473000													50	43					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25656971	25656971	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:25656971G>C	ENST00000435706.2	-	26	3644	c.3443C>G	c.(3442-3444)tCt>tGt	p.S1148C	TOP2B_ENST00000475717.1_5'UTR|TOP2B_ENST00000540199.1_Missense_Mutation_p.S5C|TOP2B_ENST00000542520.1_Missense_Mutation_p.S5C|TOP2B_ENST00000264331.4_Missense_Mutation_p.S1153C			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1153					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TTTAGTAAGAGACCACAGAGA	0.338000													3	3					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3175395	3175395	+	Splice_Site	SNP	A	A	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:3175395A>G	ENST00000381075.2	+	21	2111	c.1887A>G	c.(1885-1887)agA>agG	p.R629R	PFKP_ENST00000381125.4_Splice_Site_p.R637R|PFKP_ENST00000381072.1_Splice_Site_p.R55R	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	637					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTCGTTTCAGAAATGAGAGCT	0.557000													13	136					0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622000													5	256					0	0	1	0	0
RPL7L1	285855	broad.mit.edu	37	6	42851229	42851229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:42851229C>A	ENST00000493763.1	+	3	464	c.161C>A	c.(160-162)tCa>tAa	p.S54*	RPL7L1_ENST00000602561.1_Nonsense_Mutation_p.S54*|RPL7L1_ENST00000424341.2_Nonsense_Mutation_p.S54*|RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000304734.5_Nonsense_Mutation_p.S54*	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	54					translation	large ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			CGACTGGAATCATTCCTACAT	0.438000													19	55					1.01871e-10	1.09572e-10	1	1	0
CCT6A	908	broad.mit.edu	37	7	56128052	56128052	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:56128052C>G	ENST00000275603.4	+	10	1375	c.1156C>G	c.(1156-1158)Cag>Gag	p.Q386E	CCT6A_ENST00000540286.1_Missense_Mutation_p.Q355E|CCT6A_ENST00000335503.3_Missense_Mutation_p.Q341E	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	386					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACACTCACTCAGATCAAAGA	0.383000													21	64					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230670548	230670548	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:230670548C>T	ENST00000389045.3	-	15	1585	c.1513G>A	c.(1513-1515)Gtt>Att	p.V505I	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000283943.5_Intron|TRIP12_ENST00000389044.4_Intron			Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	784					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)		ATAGTATAAACTCGTCCCAGA	0.418000													6	17					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173934216	173934216	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:173934216C>G	ENST00000367696.2	-	10	1728	c.1377G>C	c.(1375-1377)ttG>ttC	p.L459F	RC3H1_ENST00000258349.4_Missense_Mutation_p.L459F|RC3H1_ENST00000367694.2_Missense_Mutation_p.L459F			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	459					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AAGAGGCACTCAAGGGTCTTC	0.438000													7	66					0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70927981	70927981	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:70927981G>A	ENST00000340941.6	+	8	901	c.772G>A	c.(772-774)Gag>Aag	p.E258K	MCCC2_ENST00000323375.8_Missense_Mutation_p.E220K|MCCC2_ENST00000509358.2_Missense_Mutation_p.E258K|MCCC2_ENST00000510895.2_3'UTR	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	258	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGTATCTGCTGAGGATCTTGG	0.388000													37	43					0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726474	168726474	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:168726474G>A	ENST00000392690.3	+	1	1017	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	B3GALT1_ENST00000305861.1_Missense_Mutation_p.E309K|AC016723.4_ENST00000436982.2_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1						lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						GATCTCTCCAGAAGAAATGCA	0.383000													24	47					0	0	1	0	0
PPAN	56342	broad.mit.edu	37	19	10225381	10225381	+	Silent	SNP	G	G	T	rs147132685	byFrequency	TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:10225381G>T	ENST00000556468.1	+	13	2379	c.2352G>T	c.(2350-2352)ccG>ccT	p.P784P	PPAN-P2RY11_ENST00000393796.4_Silent_p.P784P|P2RY11_ENST00000321826.4_Silent_p.P364P|PPAN-P2RY11_ENST00000428358.1_3'UTR					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCCCTAAACCGTCAGAGCCCC	0.657000													15	34					2.23348e-06	2.31928e-06	1	1	0
ZNF791	163049	broad.mit.edu	37	19	12734514	12734514	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:12734514G>A	ENST00000343325.4	+	2	166	c.4G>A	c.(4-6)Gac>Aac	p.D2N	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_5'UTR|ZNF791_ENST00000446165.1_Splice_Site_p.D2N|ZNF791_ENST00000540038.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GATGTTTCAGGACTCAGTGGC	0.448000													25	96					0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087445	49087445	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:49087445G>A	ENST00000261900.3	-	9	1774	c.1552C>T	c.(1552-1554)Cat>Tat	p.H518Y		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	518	His-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TGATGATGATGATGATTAGAT	0.443000													87	183					0	0	1	0	0
MRPL24	79590	broad.mit.edu	37	1	156708489	156708489	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:156708489A>G	ENST00000368211.4	-	2	146	c.8T>C	c.(7-9)cTt>cCt	p.L3P	MRPL24_ENST00000361531.2_Missense_Mutation_p.L3P	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	3					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGGCAGAAAGACGCATGCC	0.557000													10	28					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18391087	18391087	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:18391087G>A	ENST00000338745.6	-	11	3601	c.1867C>T	c.(1867-1869)Cgg>Tgg	p.R623W	SATB1_ENST00000454909.2_Missense_Mutation_p.R623W|SATB1_ENST00000417717.2_Missense_Mutation_p.R655W|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	623					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGGGGGAGCCGAGGGCCTGTC	0.602000													19	32					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80049149	80049149	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:80049149C>G	ENST00000306749.2	-	9	1659	c.1441G>C	c.(1441-1443)Gag>Cag	p.E481Q		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	481	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TGCTGCACCTCTGGGCCACCG	0.677000													7	5					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32860419	32860419	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:32860419G>C	ENST00000383763.5	+	1	910	c.847G>C	c.(847-849)Gac>Cac	p.D283H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCACCACGACGACGAGGTGAG	0.677000													25	61					0	0	1	0	0
BTG2	7832	broad.mit.edu	37	1	203276368	203276368	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:203276368C>G	ENST00000290551.4	+	2	350	c.279C>G	c.(277-279)caC>caG	p.H93Q		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	93					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCCAGCTGCACCAGCTGCTGC	0.642000													10	38					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27688348	27688348	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:27688348C>T	ENST00000260570.3	-	18	1970	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	623					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GCCTCTGTTTCTGGGGTCATT	0.473000													30	95					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	39991237	39991237	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:39991237C>G	ENST00000181839.4	+	1	1602	c.997C>G	c.(997-999)Cag>Gag	p.Q333E	CDK13_ENST00000340829.5_Missense_Mutation_p.Q333E	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	333					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CAGGGCCTCTCAGAGCCTGAG	0.726000													5	7					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111495198	111495198	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:111495198G>A	ENST00000369763.4	-	2	698	c.308C>T	c.(307-309)tCt>tTt	p.S103F	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_5'UTR|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ATAGTTTGAAGAACTGGCTGG	0.378000													23	27					0	0	1	0	0
STK24	8428	broad.mit.edu	37	13	99134532	99134532	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr13:99134532G>A	ENST00000397517.2	-	3	393	c.317C>T	c.(316-318)tCc>tTc	p.S106F	STK24_ENST00000539966.1_Intron|STK24_ENST00000376547.3_Missense_Mutation_p.S118F	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	118	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ATCTAGTGCGGAGCCTCCACC	0.313000													22	52					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106069465	106069465	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:106069465G>C	ENST00000357242.5	+	6	1207	c.1033G>C	c.(1033-1035)Gag>Cag	p.E345Q	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.E345Q|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.E345Q|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.E345Q	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	345	GRAM 2.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCCACTACGAGAGGTAATGTA	0.328000													15	11					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181705556	181705556	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:181705556C>T	ENST00000526775.1	+	21	3516	c.3351C>T	c.(3349-3351)ttC>ttT	p.F1117F	CACNA1E_ENST00000367570.1_Silent_p.F1136F|CACNA1E_ENST00000360108.3_Silent_p.F1117F|CACNA1E_ENST00000357570.5_Silent_p.F1087F|CACNA1E_ENST00000358338.5_Silent_p.F1068F|CACNA1E_ENST00000367573.2_Silent_p.F1136F|CACNA1E_ENST00000367567.4_Silent_p.F743F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1136					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTTCATCTTCAGCACCACCA	0.562000													7	18					0	0	1	0	0
DIABLO	56616	broad.mit.edu	37	12	122692957	122692957	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:122692957C>G	ENST00000464942.2	-	5	1925	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	DIABLO_ENST00000413918.1_Missense_Mutation_p.E187Q|DIABLO_ENST00000443649.3_Missense_Mutation_p.E231Q|DIABLO_ENST00000267169.6_Missense_Mutation_p.E178Q|B3GNT4_ENST00000546192.1_3'UTR|RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000353548.6_Missense_Mutation_p.E187Q|B3GNT4_ENST00000545141.1_Intron	NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	231					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GCCTCCTGCTCCGACTCAGCC	0.617000													20	48					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127641566	127641566	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:127641566A>T	ENST00000508053.1	-	49	6471	c.5497T>A	c.(5497-5499)Tgt>Agt	p.C1833S	FBN2_ENST00000262464.4_Missense_Mutation_p.C1833S			P35556	FBN2_HUMAN	fibrillin 2	1833	EGF-like 29; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGCATTCACAGCGGAAACTG	0.378000													42	42					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46308686	46308686	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr21:46308686C>G	ENST00000397850.2	-	15	2454	c.2002G>C	c.(2002-2004)Gag>Cag	p.E668Q	ITGB2_ENST00000302347.5_Missense_Mutation_p.E668Q|ITGB2_ENST00000355153.4_Missense_Mutation_p.E668Q|ITGB2_ENST00000397857.1_Missense_Mutation_p.E668Q|ITGB2_ENST00000397852.1_Missense_Mutation_p.E668Q|ITGB2_ENST00000397854.3_Missense_Mutation_p.E611Q			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	668					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CAGCAGCCCTCTGAGTCCCTC	0.652000													18	40					0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39880146	39880146	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:39880146C>G	ENST00000221265.3	-	5	663	c.333G>C	c.(331-333)gaG>gaC	p.E111D	PAF1_ENST00000221266.7_Missense_Mutation_p.E101D|PAF1_ENST00000595564.1_Missense_Mutation_p.E101D	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	111					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GGGCCTGAATCTCCTCTTCCA	0.587000													12	56					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111386437	111386437	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:111386437C>T	ENST00000428084.1	-	44	4902	c.4630G>A	c.(4630-4632)Gaa>Aaa	p.E1544K	DOCK4_ENST00000494651.2_Missense_Mutation_p.E418K|DOCK4_ENST00000437633.1_Missense_Mutation_p.E1535K			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1535	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCCCCATCTTCAGGGTGACTT	0.428000													9	19					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38568211	38568211	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr21:38568211G>A	ENST00000399017.2	+	42	8200	c.5453G>A	c.(5452-5454)cGa>cAa	p.R1818Q	TTC3_ENST00000355666.1_Missense_Mutation_p.R1818Q|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.R1818Q	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1818					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CTGTCAGAACGAAGCCCTGTG	0.592000													11	29					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238296818	238296818	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:238296818G>A	ENST00000295550.4	-	4	1171	c.719C>T	c.(718-720)tCt>tTt	p.S240F	COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.S34F|COL6A3_ENST00000353578.4_Missense_Mutation_p.S34F|COL6A3_ENST00000392004.3_Missense_Mutation_p.S34F|COL6A3_ENST00000346358.4_Missense_Mutation_p.S240F|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	240	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AATGTCAGCAGAGTCTTGTGC	0.373000													6	20					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17169139	17169139	+	Silent	SNP	G	G	A	rs35245100		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:17169139G>A	ENST00000265970.7	-	5	1484	c.1485C>T	c.(1483-1485)aaC>aaT	p.N495N	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.N115N	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	495					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	ATTTTCGACAGTTTTGAATAT	0.338000													25	54					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304728	102304728	+	RNA	SNP	G	G	C	rs7169413		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:102304728G>C	ENST00000561463.1	+	0	12774																											GCGTGGGAACGAGAAGACACT	0.617000													3	10					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074259	143074259	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:143074259C>G	ENST00000367603.2	-	10	8068	c.7326G>C	c.(7324-7326)aaG>aaC	p.K2442N	HIVEP2_ENST00000367604.1_Missense_Mutation_p.K2442N|HIVEP2_ENST00000012134.2_Missense_Mutation_p.K2442N|RP1-67K17.3_ENST00000437067.1_RNA	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K2442K(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTAGCTGACTCTTTTCTGATG	0.368000													16	75					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41032700	41032700	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr21:41032700G>A	ENST00000380620.4	+	5	806	c.214G>A	c.(214-216)Gag>Aag	p.E72K	B3GALT5_ENST00000398714.2_Missense_Mutation_p.E72K|B3GALT5_ENST00000343118.4_Missense_Mutation_p.E72K|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.E72K			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ACAGTTGGCTGAGCGCATGGC	0.572000													16	25					0	0	1	0	0
THUMPD3	25917	broad.mit.edu	37	3	9416328	9416328	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:9416328C>G	ENST00000345094.3	+	5	1270	c.936C>G	c.(934-936)ctC>ctG	p.L312L	SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Silent_p.L312L|THUMPD3_ENST00000515662.2_Silent_p.L312L	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	312							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		ATGGGATGCTCAGGTAAGAAA	0.408000													34	128					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172501713	172501713	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:172501713C>T	ENST00000367723.4	+	1	225	c.101C>T	c.(100-102)tCa>tTa	p.S34L	SUCO_ENST00000608151.1_Missense_Mutation_p.S34L	NM_016227.2	NP_057311.3			SUN domain containing ossification factor																		CAGCTTCCCTCACAACACACA	0.502000													14	27					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339579	13339579	+	RNA	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:13339579G>C	ENST00000602906.1	+	0	930																				kidney(3)|lung(1)	4						GCAAAGAGCAGGTTGCCAACT	0.473000													5	16					0	0	1	0	0
TMEM133	83935	broad.mit.edu	37	11	100863265	100863265	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:100863265G>A	ENST00000303130.2	+	1	455	c.226G>A	c.(226-228)Gcc>Acc	p.A76T		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	76						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		TCTGTGTCCTGCCTGTCTCCT	0.388000													30	82					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78316614	78316614	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:78316614C>T	ENST00000409931.3	-	6	1425	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.E452K			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	452						intracellular	protein binding|Rab GTPase activator activity	p.E452K(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						ATGATGACCTCGTCCTTGGCT	0.612000													15	26					0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95400337	95400337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:95400337G>A	ENST00000287996.3	-	9	1138	c.862C>T	c.(862-864)Cag>Tag	p.Q288*	IPPK_ENST00000375522.1_5'UTR	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	288					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						CGCGGGCCCTGAGGCCCGAGC	0.697000													3	9					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123286340	123286340	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:123286340C>T	ENST00000253079.6	+	9	1991	c.1647C>T	c.(1645-1647)ctC>ctT	p.L549L	CCDC62_ENST00000392440.2_Silent_p.L310L|CCDC62_ENST00000537566.1_Silent_p.L310L|CCDC62_ENST00000392441.4_Silent_p.L549L	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	549						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TTGTCCGCCTCAAATCTGGGT	0.502000													74	148					0	0	1	0	0
TOB1	10140	broad.mit.edu	37	17	48940758	48940758	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:48940758G>A	ENST00000499247.2	-	2	1054	c.621C>T	c.(619-621)atC>atT	p.I207I	TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000268957.3_Silent_p.I207I	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	207					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGCCGAGGTTGATGGGAGAAG	0.498000													10	56					0	0	1	0	0
NUPL2	11097	broad.mit.edu	37	7	23240088	23240088	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:23240088G>C	ENST00000258742.5	+	7	1255	c.996G>C	c.(994-996)gtG>gtC	p.V332V		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	332	Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGCTCCAGTGGCCCCAGCCT	0.502000													28	61					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114286308	114286308	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:114286308G>C	ENST00000357077.4	+	41	11055	c.11002G>C	c.(11002-11004)Gaa>Caa	p.E3668Q	ANK2_ENST00000394537.3_Missense_Mutation_p.E1583Q|ANK2_ENST00000264366.6_Missense_Mutation_p.E3635Q|ANK2_ENST00000509550.1_Missense_Mutation_p.E759Q|ANK2_ENST00000506722.1_Missense_Mutation_p.E1574Q|ANK2_ENST00000510275.2_Missense_Mutation_p.E235Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3635					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCAGAAATTGAACAGACCAT	0.433000													16	47					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13221384	13221384	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:13221384C>G	ENST00000319217.7	-	7	1110	c.863G>C	c.(862-864)gGa>gCa	p.G288A	MPDZ_ENST00000546205.1_Missense_Mutation_p.G288A|MPDZ_ENST00000381015.4_Missense_Mutation_p.G288A|MPDZ_ENST00000536827.1_Missense_Mutation_p.G288A|MPDZ_ENST00000541718.1_Missense_Mutation_p.G288A|MPDZ_ENST00000381022.2_Missense_Mutation_p.G288A|MPDZ_ENST00000447879.1_Missense_Mutation_p.G288A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	288	PDZ 2.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATCAGCTACTCCTCCAGGCAG	0.358000													13	10					0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113357332	113357332	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:113357332G>C	ENST00000202917.5	+	6	1440	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	OAS1_ENST00000445409.2_Missense_Mutation_p.R360T|OAS1_ENST00000551241.1_Intron|RP1-71H24.1_ENST00000552784.1_RNA	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	393					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						ACAGGCAGAAGAGGACTGGAC	0.512000													12	34					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57920759	57920759	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:57920759C>G	ENST00000355673.3	+	7	2187	c.1831C>G	c.(1831-1833)Ctt>Gtt	p.L611V	MBD6_ENST00000431731.2_Missense_Mutation_p.L611V	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	611	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTCAGACCTTCTTCCACCTCC	0.637000													6	123					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209799075	209799075	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:209799075C>T	ENST00000391911.1	-	13	2283	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	LAMB3_ENST00000356082.4_Missense_Mutation_p.E632K|LAMB3_ENST00000367030.3_Missense_Mutation_p.E632K	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	632	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CGGATCTGCTCAATCTTACTC	0.612000													15	74					0	0	1	0	0
KRCC1	51315	broad.mit.edu	37	2	88327729	88327729	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:88327729C>G	ENST00000347055.3	-	4	747	c.354G>C	c.(352-354)ctG>ctC	p.L118L		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	118										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						GATTAAAGTTCAGGGGTACTG	0.438000													13	100					0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122545849	122545849	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:122545849C>G	ENST00000261038.5	+	3	1038	c.640C>G	c.(640-642)Ctt>Gtt	p.L214V		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	214					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GACATCACCTCTTCTTGCTGC	0.433000													45	116					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70949451	70949451	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:70949451C>G	ENST00000322954.6	-	19	4380	c.4195G>C	c.(4195-4197)Gat>Cat	p.D1399H	UACA_ENST00000560441.1_Missense_Mutation_p.D1384H|UACA_ENST00000379983.2_Missense_Mutation_p.D1386H|UACA_ENST00000539319.1_Missense_Mutation_p.D1290H	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1399						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCCTGAACATCTTCATCCATG	0.423000													5	22					0	0	1	0	0
FKBP8	23770	broad.mit.edu	37	19	18650482	18650482	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:18650482G>A	ENST00000608443.1	-	3	540	c.341C>T	c.(340-342)tCg>tTg	p.S114L	FKBP8_ENST00000596558.2_Missense_Mutation_p.S114L|FKBP8_ENST00000453489.2_Missense_Mutation_p.S143L|FKBP8_ENST00000222308.4_Missense_Mutation_p.S114L|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000597960.3_Missense_Mutation_p.S114L			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa						apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	p.S114L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CGGGCGGCTCGAACCTGGCGG	0.647000													11	227					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91366570	91366570	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr14:91366570G>C	ENST00000261991.3	-	11	1434	c.1261C>G	c.(1261-1263)Caa>Gaa	p.Q421E	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.Q342E|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.Q421E	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	421					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TCATAGTGTTGATAGAATGGA	0.328000													26	33					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48389067	48389067	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:48389067G>T	ENST00000380518.3	-	11	897	c.733C>A	c.(733-735)Cct>Act	p.P245T	COL2A1_ENST00000337299.6_Missense_Mutation_p.P176T	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	245	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGGGACCAGGAGGACCACGG	0.498000													15	51					3.32936e-07	3.47058e-07	1	1	0
NUP188	23511	broad.mit.edu	37	9	131767621	131767621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:131767621C>T	ENST00000372577.2	+	40	4570	c.4549C>T	c.(4549-4551)Cga>Tga	p.R1517*		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1517					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGTTGCCCAGCGAGTCCAGAG	0.582000													15	36					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43413787	43413787	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr21:43413787C>A	ENST00000310826.5	-	3	601	c.418G>T	c.(418-420)Gat>Tat	p.D140Y	ZBTB21_ENST00000398505.3_Missense_Mutation_p.D140Y|ZBTB21_ENST00000398499.1_Missense_Mutation_p.D140Y|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.D140Y	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CTGTTTTCATCATCTTCTACA	0.378000													29	91					9.39395e-14	1.02399e-13	1	1	0
CYP4X1	260293	broad.mit.edu	37	1	47505149	47505149	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:47505149G>C	ENST00000371901.3	+	8	1268	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q	CYP4X1_ENST00000466294.1_3'UTR|CYP4X1_ENST00000538609.1_Missense_Mutation_p.E339Q	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	340						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						TGAGCATCAAGAGAGATGCCG	0.532000													18	20					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70172719	70172719	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:70172719C>T	ENST00000253925.7	+	7	940	c.725C>T	c.(724-726)tCt>tTt	p.S242F	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.S242F|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	242					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCTGATGGTTCTTTAAGCCAC	0.383000													58	240					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55825623	55825623	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:55825623C>T	ENST00000272313.5	-	4	1177	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	SMEK2_ENST00000407823.3_Missense_Mutation_p.E284K|SMEK2_ENST00000345102.5_Missense_Mutation_p.E284K	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	284						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAATTCTCTTCAAAAACAGAT	0.353000													5	95					0	0	1	0	0
RRAGD	58528	broad.mit.edu	37	6	90087533	90087533	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:90087533C>G	ENST00000369415.4	-	5	1036		c.e5-1		RRAGD_ENST00000492783.1_Splice_Site|RRAGD_ENST00000359203.3_Splice_Site	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D						cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TTCCAGAATTCTGAAATTTAA	0.323000													40	70					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16758331	16758331	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:16758331C>G	ENST00000513610.1	-	18	2198	c.1744G>C	c.(1744-1746)Gac>Cac	p.D582H		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	582	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TAGATAAAGTCAAATCTGTGT	0.428000													29	60					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30195095	30195095	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:30195095G>A	ENST00000261708.4	-	17	1670	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F		NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	511					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TCATTTTCCTGAAAAAGTCAA	0.358000													11	28					0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	945478	945478	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:945478G>A	ENST00000264771.4	+	6	536	c.351G>A	c.(349-351)atG>atA	p.M117I	TMEM175_ENST00000515740.1_Start_Codon_SNP_p.M1I|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Missense_Mutation_p.M35I	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	117						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGGCCTGCATGATGACCATCA	0.617000													16	48					0	0	1	0	0
CDC6	990	broad.mit.edu	37	17	38447912	38447912	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:38447912G>C	ENST00000209728.4	+	4	1123	c.652G>C	c.(652-654)Gac>Cac	p.D218H		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	218					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	p.D218H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						GATTCTGCAAGACCTCAAGGT	0.388000													28	36					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950421	27950421	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:27950421C>T	ENST00000379992.2	-	6	698	c.249G>A	c.(247-249)ctG>ctA	p.L83L	LINGO2_ENST00000308675.3_Silent_p.L83L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	83						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CTATCTCTTCCAGCAGAGGAT	0.453000													48	80					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600547	179600547	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:179600547C>T	ENST00000589042.1	-	50	14850	c.14626G>A	c.(14626-14628)Gac>Aac	p.D4876N	TTN_ENST00000342992.6_Missense_Mutation_p.D3632N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D4559N|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4559	Ig-like 29.						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)			TGGCAGATGTCTGCTCCAAAC	0.403000													5	28					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594868	55594868	+	Silent	SNP	C	C	G	rs150337368		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:55594868C>G	ENST00000378397.1	+	1	174	c.174C>G	c.(172-174)ccC>ccG	p.P58P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P58>?(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCCACACCCCCGTGTACTTTT	0.468000										HNSCC(27;0.073)			60	116					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70828231	70828231	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:70828231G>A	ENST00000358731.4	+	26	6132	c.5869G>A	c.(5869-5871)Gaa>Aaa	p.E1957K	BDP1_ENST00000380675.2_Missense_Mutation_p.E94K	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1957					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATGAAACAAGAAGAAAATTT	0.358000													15	13					0	0	1	0	0
ZNF17	7565	broad.mit.edu	37	19	57932315	57932315	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:57932315G>A	ENST00000307658.7	+	4	1724	c.1461G>A	c.(1459-1461)ctG>ctA	p.L487L	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Silent_p.L485L			P17021	ZNF17_HUMAN	zinc finger protein 17	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GCTGTACACTGAAGAGTCATC	0.433000													54	115					0	0	1	0	0
CEP44	80817	broad.mit.edu	37	4	175231081	175231081	+	Silent	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:175231081G>T	ENST00000503780.1	+	8	1173	c.759G>T	c.(757-759)tcG>tcT	p.S253S	CEP44_ENST00000296519.4_Silent_p.S253S|CEP44_ENST00000426172.1_Silent_p.S253S|CEP44_ENST00000457424.2_Silent_p.S253S	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	253						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						AACTGACTTCGATAGAGAAAA	0.353000													4	49					1	1	1	1	0
DFFA	1676	broad.mit.edu	37	1	10523630	10523630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:10523630C>G	ENST00000377038.3	-	4	556	c.489G>C	c.(487-489)caG>caC	p.Q163H	DFFA_ENST00000377036.2_Missense_Mutation_p.Q163H	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	163					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		TGGCACAACTCTGACGTAGTT	0.527000													56	88					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94975729	94975729	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:94975729G>A	ENST00000261226.4	-	2	795	c.664C>T	c.(664-666)Cac>Tac	p.H222Y	TMCC3_ENST00000551457.1_Missense_Mutation_p.H191Y	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	222						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TTTTTCAAGTGAGCAATGTTG	0.517000													30	66					0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120609186	120609186	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:120609186C>T	ENST00000315870.5	+	9	984	c.836C>T	c.(835-837)tCg>tTg	p.S279L	ING3_ENST00000431467.1_Missense_Mutation_p.S264L	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	279					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					TCATCATCTTCGGCACTTATG	0.393000													25	48					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	64					0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42940197	42940197	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:42940197C>G	ENST00000426333.2	-	16	1788	c.1491G>C	c.(1489-1491)ctG>ctC	p.L497L	EFTUD2_ENST00000402521.3_Silent_p.L462L|EFTUD2_ENST00000592576.1_Silent_p.L487L|EFTUD2_ENST00000591382.1_Silent_p.L497L	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	497						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TGGTGCCACTCAGCACCCGGC	0.582000													22	39					0	0	1	0	0
C1orf227	149643	broad.mit.edu	37	1	213009358	213009358	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:213009358C>T	ENST00000332912.3	-	2	241	c.134G>A	c.(133-135)aGa>aAa	p.R45K		NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN	chromosome 1 open reading frame 227	45										kidney(1)|large_intestine(1)|lung(1)	3						CTTTTGAACTCTCAGTAAGCT	0.463000													37	91					0	0	1	0	0
PKDCC	91461	broad.mit.edu	37	2	42281421	42281421	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:42281421G>C	ENST00000294964.5	+	3	1188	c.1008G>C	c.(1006-1008)gaG>gaC	p.E336D		NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	336	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						GCATGAACGAGAAGCGGAACC	0.607000													3	7					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99441832	99441832	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:99441832G>A	ENST00000354829.2	+	4	388	c.285G>A	c.(283-285)gtG>gtA	p.V95V	CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Silent_p.V95V|CYP3A43_ENST00000312017.5_Silent_p.V95V|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000477658.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	95			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	CAGTGTTAGTGAAAGAATGTT	0.388000													8	23					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155753781	155753781	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:155753781G>C	ENST00000437809.1	-	14	2010	c.1888C>G	c.(1888-1890)Cta>Gta	p.L630V	GON4L_ENST00000361040.5_Missense_Mutation_p.L630V|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.L630V|GON4L_ENST00000271883.5_Missense_Mutation_p.L630V	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	630					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCCTACCGTAGAGCTTGAGGG	0.423000													6	76					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232143132	232143132	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:232143132C>T	ENST00000349938.4	+	16	1706	c.1512C>T	c.(1510-1512)ctC>ctT	p.L504L	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	504							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)		GCCTCGTGCTCAAAGTCCTTT	0.507000													47	48					0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53493442	53493442	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:53493442C>T	ENST00000262133.6	+	9	1396	c.1259C>T	c.(1258-1260)tCt>tTt	p.S420F	RBL2_ENST00000544545.1_Missense_Mutation_p.S204F|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	420	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACTCCAGTTTCTACAGCTACG	0.433000													21	59					0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7217829	7217829	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:7217829G>A	ENST00000380728.2	-	3	482	c.182C>T	c.(181-183)tCa>tTa	p.S61L	GPS2_ENST00000389167.5_Missense_Mutation_p.S61L|GPS2_ENST00000391950.3_Missense_Mutation_p.S61L|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	61					cell cycle|inactivation of MAPK activity|JNK cascade|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)				CTCCTCTAATGACAttctctc	0.448000													9	12					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	46					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3920853	3920853	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:3920853C>G	ENST00000381638.2	-	48	7937	c.7813G>C	c.(7813-7815)Gac>Cac	p.D2605H		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2605							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AAGAGGTAGTCCCGGACAGCC	0.627000													16	19					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407476	105407476	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr14:105407476C>T	ENST00000333244.5	-	7	14431	c.14312G>A	c.(14311-14313)cGg>cAg	p.R4771Q	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4771						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGATCAAGCCGGGATGATGG	0.463000													21	23					0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14829947	14829947	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:14829947C>T	ENST00000292530.6	+	12	1899	c.1808C>T	c.(1807-1809)tCa>tTa	p.S603L	ZNF333_ENST00000536363.1_Missense_Mutation_p.S494L|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGTCAGTCTTCACATCTTATT	0.517000													39	68					0	0	1	0	0
AZIN1	51582	broad.mit.edu	37	8	103841517	103841517	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:103841517C>T	ENST00000337198.5	-	11	2381	c.1218G>A	c.(1216-1218)atG>atA	p.M406I	AZIN1_ENST00000347770.4_Missense_Mutation_p.M406I	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	406					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			TGAATGACATCATGTAATAAA	0.343000													32	75					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37329343	37329343	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:37329343G>C	ENST00000231498.3	-	16	1965	c.1762C>G	c.(1762-1764)Ctt>Gtt	p.L588V	NUP155_ENST00000381843.2_Missense_Mutation_p.L529V|NUP155_ENST00000513532.1_Missense_Mutation_p.L588V	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	588	Pro-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAGGCGGAAGAGTGGTTGGA	0.378000													22	35					0	0	1	0	0
MROH6	642475	broad.mit.edu	37	8	144650425	144650425	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:144650425C>G	ENST00000398882.3	-	11	1907	c.1651G>C	c.(1651-1653)Gag>Cag	p.E551Q	MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000533679.1_Intron|MROH6_ENST00000534459.1_5'UTR	NM_001100878.1	NP_001094348.1			maestro heat-like repeat family member 6																		AGGGTCCACTCTGAGCTCTGG	0.647000													4	16					0	0	1	0	0
UQCR10	29796	broad.mit.edu	37	22	30163496	30163496	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr22:30163496G>A	ENST00000330029.6	+	1	139	c.109G>A	c.(109-111)Gat>Aat	p.D37N	UQCR10_ENST00000401406.3_Missense_Mutation_p.D37N	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	37					mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						GCGCGCCTTCGATCAAGGCGC	0.607000													12	51					0	0	1	0	0
TOB1	10140	broad.mit.edu	37	17	48940752	48940752	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:48940752G>A	ENST00000499247.2	-	2	1060	c.627C>T	c.(625-627)ctC>ctT	p.L209L	TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000268957.3_Silent_p.L209L	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	209					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CATTCAAGCCGAGGTTGATGG	0.507000													12	56					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203420091	203420091	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:203420091C>A	ENST00000374580.4	+	12	2242	c.1703C>A	c.(1702-1704)tCt>tAt	p.S568Y	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	568					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AATATTTCCTCTGAGCATTCT	0.423000													10	47					0.00136819	0.00139749	1	1	0
COL5A3	50509	broad.mit.edu	37	19	10090718	10090718	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:10090718G>A	ENST00000264828.3	-	36	2695	c.2610C>T	c.(2608-2610)ctC>ctT	p.L870L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	870	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCAGACCAGGGAGGCCCTGAA	0.587000													3	12					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137321051	137321051	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:137321051C>T	ENST00000540193.1	+	6	1640	c.717C>T	c.(715-717)agC>agT	p.S239S	RXRA_ENST00000481739.1_Silent_p.S336S|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	336	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)	ACCGGAACAGCGCCCACAGCG	0.692000													26	42					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162325125	162325125	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:162325125C>G	ENST00000361897.5	+	7	1146	c.744C>G	c.(742-744)ggC>ggG	p.G248G	NOS1AP_ENST00000530878.1_Silent_p.G243G	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	248					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGAAGGAGGCTCTCACACAG	0.557000													11	31					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43401050	43401050	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:43401050C>G	ENST00000244533.3	+	1	1562	c.1203C>G	c.(1201-1203)atC>atG	p.I401M	ABCC10_ENST00000372530.4_Missense_Mutation_p.I444M|ABCC10_ENST00000443426.2_3'UTR	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	444	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCACCCGCATCATGGCCAGCA	0.597000													7	41					0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139264235	139264235	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:139264235C>T	ENST00000371732.5	-	7	1209	c.1044G>A	c.(1042-1044)ctG>ctA	p.L348L	CARD9_ENST00000371734.3_Silent_p.L348L|CARD9_ENST00000315908.7_Silent_p.L348L	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	348					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CCTCCATCTGCAGCAGGATGG	0.632000													3	16					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163251	141163251	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:141163251C>G	ENST00000514251.1	+	4	2300	c.2021C>G	c.(2020-2022)tCa>tGa	p.S674*	ZBTB38_ENST00000441582.2_Nonsense_Mutation_p.S674*|ZBTB38_ENST00000321464.5_Nonsense_Mutation_p.S675*			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	674					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ACTGAGGTGTCAGTTTCTTCC	0.443000													28	53					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195452027	195452027	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:195452027C>G	ENST00000320736.6	+	2	679	c.553C>G	c.(553-555)Cca>Gca	p.P185A	MUC20_ENST00000445522.2_Missense_Mutation_p.P150A|MUC20_ENST00000436408.1_Missense_Mutation_p.P185A|MUC20_ENST00000447234.2_Missense_Mutation_p.P185A			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	356	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAGCCCCCATCCAGTCATCAC	0.612000													13	224					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48630668	48630668	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:48630668C>T	ENST00000328333.8	-	5	656	c.549G>A	c.(547-549)ctG>ctA	p.L183L	COL7A1_ENST00000454817.1_Silent_p.L183L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	183	Nonhelical region (NC1).|VWFA 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAACTCGCTTCAGCTCCTCAG	0.562000													24	57					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43690519	43690519	+	Silent	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:43690519G>T	ENST00000404580.1	-	1	127	c.39C>A	c.(37-39)atC>atA	p.I13I	PSG5_ENST00000366175.3_Silent_p.I13I|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407568.1_Silent_p.I13I|PSG5_ENST00000599812.1_Silent_p.I13I|PSG5_ENST00000342951.6_Silent_p.I13I|PSG5_ENST00000407356.1_Silent_p.I13I			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	13					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CCTTCCAGGTGATGTGCTGTG	0.597000													39	106					2.77807e-22	3.08632e-22	1	1	0
ATN1	1822	broad.mit.edu	37	12	7045048	7045048	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:7045048C>G	ENST00000356654.4	+	5	855	c.618C>G	c.(616-618)ttC>ttG	p.F206L	ATN1_ENST00000396684.2_Missense_Mutation_p.F206L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	206					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTCGAATGTTCCAGGCTCCTC	0.622000													22	30					0	0	1	0	0
NPY	4852	broad.mit.edu	37	7	24324878	24324878	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:24324878C>A	ENST00000407573.1	+	3	309	c.19C>A	c.(19-21)Ctg>Atg	p.L7M	NPY_ENST00000242152.2_Missense_Mutation_p.L7M|NPY_ENST00000405982.1_Missense_Mutation_p.L7M			P01303	NPY_HUMAN	neuropeptide Y	7			L -> P (in dbSNP:rs16139).		adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						TAACAAGCGACTGGGGCTGTC	0.692000													7	67					0.00307968	0.00313378	1	1	0
DNAAF1	123872	broad.mit.edu	37	16	84211385	84211385	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:84211385C>A	ENST00000378553.5	+	12	2240	c.2116C>A	c.(2116-2118)Cag>Aag	p.Q706K	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	706					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CGGAGTTGCCCAGCCCAGCCA	0.547000													21	139					1.9806e-07	2.07796e-07	1	1	0
TIGD5	84948	broad.mit.edu	37	8	144681458	144681458	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:144681458G>C	ENST00000504548.2	+	1	1385	c.1385G>C	c.(1384-1386)gGc>gCc	p.G462A	TIGD5_ENST00000321385.3_Missense_Mutation_p.G413A	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	462					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TACCTGGCTGGCCTCTCCTGG	0.687000													3	9					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97784114	97784114	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:97784114C>T	ENST00000420699.2	+	3	590	c.346C>T	c.(346-348)Ctt>Ttt	p.L116F	ANKRD36_ENST00000461153.2_Missense_Mutation_p.L116F	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	116										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TTGTGCAACTCTTCTGCTGCA	0.413000													31	64					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21720350	21720350	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:21720350C>T	ENST00000358491.4	+	4	1703	c.1495C>T	c.(1495-1497)Cat>Tat	p.H499Y	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CCTTAACAGTCATAAAAAAAT	0.378000													10	70					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117266850	117266850	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:117266850G>A	ENST00000362057.3	-	1	400	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	DFNB31_ENST00000374057.3_Silent_p.L78L	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	78					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCACGCGCAGGGTGCGCACC	0.677000													11	13					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44736042	44736042	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:44736042G>C	ENST00000222673.5	+	14	1828	c.1786G>C	c.(1786-1788)Gac>Cac	p.D596H	OGDH_ENST00000444676.1_Missense_Mutation_p.D611H|OGDH_ENST00000447398.1_Missense_Mutation_p.D607H|OGDH_ENST00000439616.2_Missense_Mutation_p.D446H|OGDH_ENST00000449767.1_Missense_Mutation_p.D592H|OGDH_ENST00000543843.1_Missense_Mutation_p.D547H	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	596					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CTTCACCCTGGACGGGCAGCC	0.527000													9	25					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100093047	100093047	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:100093047G>C	ENST00000375202.2	+	32	3756	c.2404G>C	c.(2404-2406)Gag>Cag	p.E802Q	CCDC180_ENST00000529487.1_Missense_Mutation_p.E802Q|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.E941Q|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.E799Q|CCDC180_ENST00000460482.2_3'UTR					coiled-coil domain containing 180																		ATCTGTGGGTGAGGTAAGCCA	0.493000													11	54					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94060055	94060055	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr14:94060055C>G	ENST00000553484.1	+	23	3216	c.3062C>G	c.(3061-3063)tCt>tGt	p.S1021C	UNC79_ENST00000555664.1_Missense_Mutation_p.S1021C|UNC79_ENST00000256339.4_Missense_Mutation_p.S844C|UNC79_ENST00000393151.2_Missense_Mutation_p.S1021C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1021						integral to membrane		p.S844F(1)|p.S1021F(1)		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						TCCGAGTTCTCTCAGCTGTCT	0.478000													19	19					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32115305	32115305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:32115305C>T	ENST00000375250.5	-	9	1608	c.1367G>A	c.(1366-1368)tGg>tAg	p.W456*	ARHGAP12_ENST00000311380.4_Nonsense_Mutation_p.W434*|ARHGAP12_ENST00000375245.4_Nonsense_Mutation_p.W434*|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000344936.2_Nonsense_Mutation_p.W486*|ARHGAP12_ENST00000396144.4_Nonsense_Mutation_p.W481*	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	486					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGAAGACAACCAGTTCTTTCT	0.363000													11	43					0	0	1	0	0
MGST2	4258	broad.mit.edu	37	4	140587225	140587225	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:140587225C>G	ENST00000265498.1	+	1	304	c.52C>G	c.(52-54)Cag>Gag	p.Q18E	MGST2_ENST00000515137.1_3'UTR|MGST2_ENST00000506797.1_Missense_Mutation_p.Q18E	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	Q99735	MGST2_HUMAN	microsomal glutathione S-transferase 2	18					glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	CTCGGCCTGTCAGCAAAGTAA	0.552000													24	48					0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40874883	40874883	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:40874883C>G	ENST00000428826.2	-	6	538	c.417G>C	c.(415-417)gtG>gtC	p.V139V	EZH1_ENST00000590078.1_Silent_p.V69V|EZH1_ENST00000592743.1_Silent_p.V139V|EZH1_ENST00000435174.1_Intron|EZH1_ENST00000415827.2_Silent_p.V130V|EZH1_ENST00000585893.1_Silent_p.V99V			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	139					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTTCTTCTTTCACTTCATCTC	0.403000													45	58					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79313576	79313576	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:79313576C>T	ENST00000305089.3	-	4	318	c.238G>A	c.(238-240)Gag>Aag	p.E80K		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	80	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AAGGCACCCTCCGCCTGGGTG	0.522000													41	58					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9407526	9407526	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:9407526G>A	ENST00000591998.1	-	6	782	c.554C>T	c.(553-555)tCa>tTa	p.S185L	ZNF699_ENST00000308650.3_Missense_Mutation_p.S185L			Q32M78	ZN699_HUMAN	zinc finger protein 699	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTCTTGAGTGAATCAAGATT	0.358000													19	67					0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5115733	5115733	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:5115733C>T	ENST00000315997.5	-	1	378	c.177G>A	c.(175-177)ctG>ctA	p.L59L	C16orf89_ENST00000474471.3_Silent_p.L59L|C16orf89_ENST00000422873.1_Silent_p.L97L|C16orf89_ENST00000350219.4_Silent_p.L97L|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Silent_p.L59L	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	59						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CCATGCCATCCAGGTTGATTT	0.572000													14	25					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93649644	93649644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:93649644G>A	ENST00000343253.7	+	3	746	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.E82K|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.E200K			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	82										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTCACCTTATGAAAACGTCTG	0.348000													23	20					0	0	1	0	0
TSPAN3	10099	broad.mit.edu	37	15	77348525	77348525	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:77348525C>A	ENST00000267970.4	-	2	409	c.136G>T	c.(136-138)Gaa>Taa	p.E46*	TSPAN3_ENST00000558745.1_5'UTR|TSPAN3_ENST00000559494.1_Intron|TSPAN3_ENST00000558394.1_5'UTR|TSPAN3_ENST00000346495.2_Nonsense_Mutation_p.E46*|TSPAN3_ENST00000424443.3_Intron|TSPAN3_ENST00000561277.1_5'UTR	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	46						integral to membrane				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		TACACATCTTCAAAGAAGTGG	0.468000													37	49					2.54651e-27	2.85251e-27	1	1	0
LRP5	4041	broad.mit.edu	37	11	68153879	68153879	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:68153879G>A	ENST00000294304.7	+	6	1217	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	371	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGGTGGACGACATCCGGCA	0.657000													17	25					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162577546	162577546	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:162577546C>G	ENST00000306100.5	-	7	1264	c.828G>C	c.(826-828)ctG>ctC	p.L276L	FSTL5_ENST00000536695.1_Silent_p.L275L|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Silent_p.L275L|FSTL5_ENST00000427802.2_Silent_p.L275L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	276	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGGGAGGTCTCAGGGTTCCTT	0.373000													16	34					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43008119	43008119	+	Missense_Mutation	SNP	C	C	G	rs78682787	by1000genomes	TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:43008119C>G	ENST00000535468.1	-	22	4407	c.4321G>C	c.(4321-4323)Gag>Cag	p.E1441Q	CUL7_ENST00000265348.3_Missense_Mutation_p.E1357Q	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1357					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCAGCTTCCTCTTCCTTCTCG	0.607000													14	20					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77921514	77921514	+	Silent	SNP	T	T	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:77921514T>A	ENST00000529308.1	+	10	2874	c.2613T>A	c.(2611-2613)gcT>gcA	p.A871A	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Silent_p.A457A|USP35_ENST00000526425.1_Silent_p.A602A|USP35_ENST00000530267.1_Silent_p.A439A	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	871					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)			GTGAGGGCGCTGCCCGCCCTG	0.602000													28	93					0	0	1	0	0
GNAL	2774	broad.mit.edu	37	18	11824976	11824976	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr18:11824976G>C	ENST00000334049.6	+	5	1292	c.684G>C	c.(682-684)gaG>gaC	p.E228D	GNAL_ENST00000535121.1_Missense_Mutation_p.E151D|GNAL_ENST00000423027.3_Missense_Mutation_p.E151D|GNAL_ENST00000269162.5_Missense_Mutation_p.E151D|GNAL_ENST00000590972.1_3'UTR	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	151					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CATGCTTTGAGAGATCCAACG	0.368000													32	60					0	0	1	0	0
THEM5	284486	broad.mit.edu	37	1	151820738	151820738	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:151820738C>A	ENST00000368817.5	-	4	626	c.495G>T	c.(493-495)atG>atT	p.M165I	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	165							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCGTCCATCATGGCTGCCA	0.592000													25	50					1.75199e-13	1.90719e-13	1	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971036	21971036	+	Missense_Mutation	SNP	C	C	T	rs121913381		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:21971036C>T	ENST00000579755.1	-	2	657	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57N|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D108N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108N|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163Q|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57N|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108N|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57N|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57N|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122Q|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57N|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108N			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	138			G -> R (in CMM2).|G -> S (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(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)		CCCCAGGCATCGCGCACGTCC	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	11					0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182759468	182759468	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:182759468C>G	ENST00000492597.1	-	10	1529	c.827G>C	c.(826-828)aGa>aCa	p.R276T	MCCC1_ENST00000265594.4_Missense_Mutation_p.R385T|MCCC1_ENST00000539926.1_Missense_Mutation_p.R250T			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	385	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TGCATATATTCTAGCTTCGAA	0.458000													6	97					0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83788390	83788390	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:83788390C>G	ENST00000322019.9	+	4	629	c.355C>G	c.(355-357)Cat>Gat	p.H119D	TM6SF1_ENST00000379390.6_Missense_Mutation_p.H119D|TM6SF1_ENST00000565774.1_Missense_Mutation_p.H119D|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379386.4_Missense_Mutation_p.H119D			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	119						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGCTCTGCTCATTATCTGAT	0.468000													25	99					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32954179	32954179	+	Silent	SNP	A	A	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr13:32954179A>C	ENST00000544455.1	+	24	9380	c.9153A>C	c.(9151-9153)ccA>ccC	p.P3051P	BRCA2_ENST00000380152.3_Silent_p.P3051P	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3051					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTTACCAGCCACGGGAGCCCC	0.353000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			9	98					0	0	1	0	0
GPR68	8111	broad.mit.edu	37	14	91700690	91700690	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr14:91700690G>A	ENST00000531499.2	-	2	1044	c.705C>T	c.(703-705)gtC>gtT	p.V235V	GPR68_ENST00000238699.3_Silent_p.V245V|GPR68_ENST00000535815.1_Silent_p.V235V			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	235					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CCAGGAAGATGACCACGGTGC	0.667000													3	0					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245275	46245275	+	Silent	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:46245275G>T	ENST00000334344.6	+	15	3541	c.3369G>T	c.(3367-3369)ggG>ggT	p.G1123G	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.G733G|ARID2_ENST00000422737.1_Silent_p.G974G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1123	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TATTGGTTGGGCAGCAAAATG	0.527000			"""N, S, F"""		hepatocellular carcinoma								29	52					9.65021e-13	1.0477e-12	1	1	0
MACF1	23499	broad.mit.edu	37	1	39802221	39802221	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:39802221G>A	ENST00000564288.1	+	37	10738	c.9961G>A	c.(9961-9963)Gaa>Aaa	p.E3321K	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E3358K|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.E3326K|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E1761K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3326					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACACCACAGGAAAAGCTCAG	0.478000													4	68					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32095528	32095528	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:32095528C>G	ENST00000375201.4	-	2	128		c.e2-1		ATF6B_ENST00000375203.3_Splice_Site|ATF6B_ENST00000468502.1_Splice_Site			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta						response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AAGGTGCTGTCTGCAAGAAAT	0.622000													12	14					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170093704	170093704	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:170093704C>A	ENST00000263816.3	-	28	4885	c.4600G>T	c.(4600-4602)Gaa>Taa	p.E1534*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1534					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTGGAGACTTCAATTGTTTCC	0.388000													15	71					3.27435e-08	3.45768e-08	1	1	0
SUMF1	285362	broad.mit.edu	37	3	4494728	4494728	+	Silent	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:4494728G>T	ENST00000272902.5	-	2	311	c.276C>A	c.(274-276)gtC>gtA	p.V92V	SUMF1_ENST00000383843.5_Silent_p.V92V|SUMF1_ENST00000534863.1_Silent_p.V92V|SUMF1_ENST00000405420.2_Silent_p.V92V|SUMF1_ENST00000458465.2_Silent_p.V92V	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	92						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CAGGGATGGGGACCATCTACA	0.483000													6	16					8.12818e-05	8.37606e-05	1	1	0
ICK	22858	broad.mit.edu	37	6	52876920	52876920	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:52876920C>G	ENST00000356971.3	-	11	1747	c.1258G>C	c.(1258-1260)Gac>Cac	p.D420H	ICK_ENST00000350082.5_Missense_Mutation_p.D420H	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	420					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TCATCCAAGTCAGCCCAATCA	0.473000													19	41					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100479365	100479365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:100479365C>T	ENST00000388793.4	+	4	557	c.337C>T	c.(337-339)Cag>Tag	p.Q113*	SRRT_ENST00000457580.2_Nonsense_Mutation_p.Q113*|SRRT_ENST00000432932.1_Nonsense_Mutation_p.Q113*|SRRT_ENST00000347433.4_Nonsense_Mutation_p.Q113*	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	113					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGGCCCCCCTCAGCCCTGGGG	0.627000													14	27					0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16899206	16899206	+	Nonstop_Mutation	SNP	T	T	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:16899206T>G	ENST00000310398.2	-	8	571	c.501A>C	c.(499-501)taA>taC	p.*167Y		NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	0						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		CCATCATCTCTTATAGCTCTG	0.284000													11	21					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124802830	124802830	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:124802830C>T	ENST00000423114.2	-	14	2135	c.2136G>A	c.(2134-2136)atG>atA	p.M712I	SLC12A8_ENST00000430155.2_Missense_Mutation_p.M484I|SLC12A8_ENST00000314584.7_Missense_Mutation_p.M344I|SLC12A8_ENST00000393469.4_Missense_Mutation_p.M683I|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.M683I			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	683					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TGAGCTGAGTCATCTCCATGT	0.582000													5	9					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47703558	47703558	+	Silent	SNP	A	A	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:47703558A>T	ENST00000406134.1	+	13	2120	c.2058A>T	c.(2056-2058)gtA>gtT	p.V686V	MSH2_ENST00000233146.2_Silent_p.V686V|MSH2_ENST00000543555.1_Silent_p.V620V			P43246	MSH2_HUMAN	mutS homolog 2	686					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGGTGATAGTACTCATGGCCC	0.428000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				43	50					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58199374	58199374	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:58199374C>A	ENST00000282296.5	+	3	1916	c.1731C>A	c.(1729-1731)caC>caA	p.H577Q	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.H561Q|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCATTCAACACCAGAGAGTTC	0.463000													20	76					1.2644e-06	1.31634e-06	1	1	0
TTLL4	9654	broad.mit.edu	37	2	219611749	219611749	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:219611749C>T	ENST00000392102.1	+	9	2338	c.1998C>T	c.(1996-1998)ttC>ttT	p.F666F	TTLL4_ENST00000457313.1_Silent_p.F501F|TTLL4_ENST00000258398.4_Silent_p.F666F|TTLL4_ENST00000442769.1_Intron	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	666	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CAGGCTCATTCCAGATTGGGA	0.522000													14	29					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21550647	21550647	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:21550647G>C	ENST00000222584.3	+	6	2333	c.2115G>C	c.(2113-2115)aaG>aaC	p.K705N		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	705					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TAGGTGAAAAGAGATTTGAAT	0.358000													22	44					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6666547	6666547	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:6666547C>G	ENST00000541778.1	-	16	2527	c.2039G>C	c.(2038-2040)gGa>gCa	p.G680A	NOP2_ENST00000382421.3_Missense_Mutation_p.G717A|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000322166.5_Missense_Mutation_p.G684A|NOP2_ENST00000399466.2_Missense_Mutation_p.G680A|NOP2_ENST00000537442.1_Missense_Mutation_p.G684A|NOP2_ENST00000545200.1_3'UTR			P46087	NOP2_HUMAN	NOP2 nucleolar protein	684					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TTCGGCTTTTCCAGCTGGCTG	0.498000													17	69					0	0	1	0	0
FAM63A	55793	broad.mit.edu	37	1	150972408	150972408	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:150972408C>G	ENST00000361936.5	-	7	1722	c.768G>C	c.(766-768)ctG>ctC	p.L256L	FAM63A_ENST00000493834.2_Silent_p.L161L|FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000361738.6_Silent_p.L304L|FAM63A_ENST00000312210.5_Silent_p.L114L	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	256							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGTTGTAACTCAGTTTCCCAA	0.463000													14	29					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121880471	121880471	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:121880471C>T	ENST00000377069.4	-	18	2972	c.2566G>A	c.(2566-2568)Gag>Aag	p.E856K	KDM2B_ENST00000542973.1_Missense_Mutation_p.E293K|KDM2B_ENST00000377071.4_Missense_Mutation_p.E925K|KDM2B_ENST00000536437.1_Intron	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	925					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCCGGGCCCTCGGCCCCTTCG	0.677000													7	11					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79514659	79514659	+	Silent	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:79514659C>A	ENST00000537152.1	-	5	1521	c.996G>T	c.(994-996)ctG>ctT	p.L332L	C17orf70_ENST00000425898.2_Silent_p.L132L|C17orf70_ENST00000327787.8_Silent_p.L483L	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	483					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TGAGGCTTGTCAGTGCCTTGT	0.627000													34	92					2.20474e-14	2.40976e-14	1	1	0
KCNJ16	3773	broad.mit.edu	37	17	68128780	68128780	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:68128780C>G	ENST00000585558.1	+	4	1045	c.657C>G	c.(655-657)ttC>ttG	p.F219L	KCNJ16_ENST00000392671.1_Missense_Mutation_p.F184L|KCNJ16_ENST00000392670.1_Missense_Mutation_p.F184L|KCNJ16_ENST00000586462.1_Missense_Mutation_p.F223L|KCNJ16_ENST00000283936.1_Missense_Mutation_p.F184L|KCNJ16_ENST00000589377.1_Missense_Mutation_p.F184L			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	184					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CCATTCGTTTCAGCTACTTTG	0.458000													22	50					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811691	73811691	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:73811691C>T	ENST00000332687.6	-	4	1677	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	RLIM_ENST00000349225.2_Missense_Mutation_p.E487K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	487	Ser-rich.				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGCTAGTTTCTGAACTTTCA	0.488000													9	3					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912560	77912560	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:77912560T>A	ENST00000321110.1	-	2	1653	c.1358A>T	c.(1357-1359)cAt>cTt	p.H453L		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	453							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCTGGCAAAATGACCAGGATA	0.552000													16	15					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11741048	11741048	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:11741048C>T	ENST00000381486.2	+	16	2756	c.2456C>T	c.(2455-2457)cCg>cTg	p.P819L	GREB1_ENST00000234142.5_Missense_Mutation_p.P819L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	819						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACCTCCTTCCCGTATGCACTG	0.592000													32	84					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627249	140627249	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:140627249C>T	ENST00000231173.3	+	1	2103	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		701					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCGCTCTTCCTCTTCTCGG	0.687000													70	63					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16578086	16578086	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:16578086C>T	ENST00000375592.3	-	10	1449	c.1233G>A	c.(1231-1233)ctG>ctA	p.L411L		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	411										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CCCTGGGTCTCAGTGTTCCCC	0.572000													20	40					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50900022	50900022	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr22:50900022G>A	ENST00000380817.3	-	22	2952	c.2769C>T	c.(2767-2769)ctC>ctT	p.L923L	SBF1_ENST00000390679.3_Silent_p.L923L|SBF1_ENST00000348911.6_Silent_p.L924L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		GRAM.				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)		CCTCAGCTGGGAGCAATGCTG	0.697000													5	4					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	64055241	64055241	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:64055241G>C	ENST00000324472.4	-	4	654	c.471C>G	c.(469-471)ttC>ttG	p.F157L	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	157					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TAATGGTCTTGAAGTATGAAT	0.264000													37	62					0	0	1	0	0
C5orf34	375444	broad.mit.edu	37	5	43487124	43487124	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:43487124C>G	ENST00000306862.2	-	13	2185	c.1810G>C	c.(1810-1812)Gaa>Caa	p.E604Q	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	604										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					AGCAAGGTTTCTGAAGATCCT	0.323000													19	30					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64299089	64299089	+	Silent	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:64299089C>A	ENST00000413366.3	+	1	146	c.120C>A	c.(118-120)atC>atA	p.I40I	PRKCA_ENST00000583361.1_3'UTR	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	40					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.I40I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ACAAATTCATCGCGCGCTTCT	0.657000													39	92					1.96642e-18	2.1727e-18	1	1	0
TCTN2	79867	broad.mit.edu	37	12	124171441	124171441	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:124171441G>C	ENST00000303372.5	+	6	751	c.623G>C	c.(622-624)gGa>gCa	p.G208A	TCTN2_ENST00000426174.2_Missense_Mutation_p.G207A	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	208					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GGCGTGTTTGGAGGAGACGTC	0.532000													49	100					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964514	7964514	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:7964514C>T	ENST00000306708.6	+	3	1208	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	369						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TGCTGCACCTCATCGATCAGT	0.572000													19	38					0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36483150	36483150	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:36483150C>T	ENST00000229812.7	-	7	919	c.634G>A	c.(634-636)Gac>Aac	p.D212N		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	212	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTTTGATGTCTCTGTGGATG	0.428000													9	57					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168066112	168066112	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:168066112A>T	ENST00000367838.1	-	5	1046	c.733T>A	c.(733-735)Tcc>Acc	p.S245T	GPR161_ENST00000367835.1_Missense_Mutation_p.S245T|GPR161_ENST00000271357.5_Missense_Mutation_p.S245T|GPR161_ENST00000361697.2_Missense_Mutation_p.S245T|GPR161_ENST00000537209.1_Missense_Mutation_p.S265T|GPR161_ENST00000546300.1_Missense_Mutation_p.S131T|GPR161_ENST00000539777.1_Missense_Mutation_p.S167T|GPR161_ENST00000367836.1_Missense_Mutation_p.S113T	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	245					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GAGGAGGTGGAGGTGCTGGAG	0.612000													37	68					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133791154	133791154	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:133791154C>T	ENST00000321016.8	-	18	2696	c.2466G>A	c.(2464-2466)aaG>aaA	p.K822K	IGSF9B_ENST00000533871.2_Silent_p.K822K			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	822						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCCGCTTGGTCTTCTTGTACA	0.657000													17	52					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234890441	234890441	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:234890441C>G	ENST00000324695.4	+	19	2511	c.2471C>G	c.(2470-2472)tCt>tGt	p.S824C	TRPM8_ENST00000433712.2_Missense_Mutation_p.S402C	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	824						integral to membrane				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)	AATAAAAGCTCTTTGTATTCT	0.348000											OREG0003842	type=REGULATORY REGION|Gene=TRPM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	47	55					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48613976	48613976	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:48613976G>A	ENST00000328333.8	-	68	5822	c.5715C>T	c.(5713-5715)gtC>gtT	p.V1905V	COL7A1_ENST00000454817.1_Silent_p.V1873V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1905	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCCTCCTGGGACACCAGGAA	0.597000													5	9					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180064823	180064823	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:180064823G>C	ENST00000367607.3	+	35	9095	c.8677G>C	c.(8677-8679)Gaa>Caa	p.E2893Q	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2893						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAAGGCAGAAGAAACCATTGT	0.433000													13	22					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12908074	12908074	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:12908074G>C	ENST00000317869.6	-	2	294	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CAAGAGTGTTGAGATTCCCAA	0.453000													14	151					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75651091	75651091	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:75651091G>A	ENST00000361470.2	+	1	3046	c.2768G>A	c.(2767-2769)aGa>aAa	p.R923K		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	923	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AGAATCCACAGAAAGGAACCA	0.493000													25	15					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193042710	193042710	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:193042710G>C	ENST00000342358.4	-	14	1734	c.1617C>G	c.(1615-1617)ctC>ctG	p.L539L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	539					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGGTCCCATTGAGAAGGATCA	0.547000													47	43					0	0	1	0	0
NTPCR	84284	broad.mit.edu	37	1	233091399	233091399	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:233091399G>C	ENST00000366628.5	+	2	218	c.131G>C	c.(130-132)gGa>gCa	p.G44A	NTPCR_ENST00000366627.4_Missense_Mutation_p.G44A	NM_032324.1	NP_115700.1	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related								ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						GTCAGACAGGGAGGGAGAAGA	0.438000													10	25					0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153648436	153648436	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:153648436G>A	ENST00000369776.4	+	5	527	c.442G>A	c.(442-444)Gag>Aag	p.E148K	TAZ_ENST00000475699.1_Intron|TAZ_ENST00000351413.4_Intron|TAZ_ENST00000369790.4_Intron|TAZ_ENST00000299328.5_Intron|TAZ_ENST00000350743.4_Intron|TAZ_ENST00000498029.1_Intron			Q16635	TAZ_HUMAN	tafazzin	215	Hydrophilic.				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					GCATGTCGGTGAGCCTGGGGA	0.632000													114	35					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017864	161017864	+	Silent	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:161017864G>T	ENST00000368013.3	-	12	3267	c.2947C>A	c.(2947-2949)Cga>Aga	p.R983R	ARHGAP30_ENST00000368016.3_Silent_p.R772R|ARHGAP30_ENST00000368015.1_Silent_p.R806R	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	983					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGAGAAGCTCGGGACCCCCAA	0.592000													21	43					0.000295444	0.000302914	1	1	0
UTRN	7402	broad.mit.edu	37	6	144768777	144768777	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:144768777G>T	ENST00000367545.3	+	15	1762	c.1762G>T	c.(1762-1764)Gat>Tat	p.D588Y		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	588	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCAAACATTGGATCAGCTGAG	0.388000													24	40					7.41945e-09	7.87588e-09	1	1	0
NLGN2	57555	broad.mit.edu	37	17	7319281	7319281	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:7319281G>A	ENST00000302926.2	+	6	1562	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N	NLGN2_ENST00000575301.1_Missense_Mutation_p.D497N	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	497					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TGAGTGGGCAGATGCGGCGCA	0.607000													14	17					0	0	1	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44511688	44511688	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:44511688C>G	ENST00000372523.1	+	2	552	c.457C>G	c.(457-459)Cca>Gca	p.P153A	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.P153A	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	153							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				TCATTTCCTTCCACTGCCTAT	0.507000													25	58					0	0	1	0	0
RBMX2	51634	broad.mit.edu	37	X	129546579	129546579	+	Silent	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:129546579G>T	ENST00000305536.6	+	6	790	c.726G>T	c.(724-726)ctG>ctT	p.L242L		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	242	Lys-rich.						nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						AGAGGGAGCTGAAGAAGGAGA	0.572000													18	4					3.52763e-06	3.65845e-06	1	1	0
MYO5B	4645	broad.mit.edu	37	18	47438454	47438454	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr18:47438454G>C	ENST00000285039.7	-	18	2479	c.2180C>G	c.(2179-2181)tCt>tGt	p.S727C		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	727	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTCCAGGACAGACCTGCAGAT	0.552000													63	76					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286940	152286940	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:152286940G>A	ENST00000368799.1	-	3	457	c.422C>T	c.(421-423)tCc>tTc	p.S141F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	141					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGCTCTTGGATCTTCCCTT	0.353000									Ichthyosis				7	101					0	0	1	0	0
PCBP1	5093	broad.mit.edu	37	2	70315904	70315904	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:70315904C>G	ENST00000303577.5	+	1	1320	c.1029C>G	c.(1027-1029)atC>atG	p.I343M	PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	343	KH 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						AGTATCTAATCAATGCCAGGC	0.517000													30	32					0	0	1	0	0
IGHV3-13	28449	broad.mit.edu	37	14	106586406	106586406	+	RNA	SNP	C	C	G	rs112329769		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr14:106586406C>G	ENST00000390602.2	-	0	158																											AAGCCTCCCCCAGACTCCACC	0.552000													42	51					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38749076	38749076	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:38749076C>A	ENST00000359357.3	+	14	1789	c.1535C>A	c.(1534-1536)cCc>cAc	p.P512H	DNAH8_ENST00000449981.2_Missense_Mutation_p.P729H|DNAH8_ENST00000441566.1_Missense_Mutation_p.P512H					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGCAACATGCCCCCTATAGCA	0.388000													20	81					2.32416e-17	2.56448e-17	1	1	0
DTX3	196403	broad.mit.edu	37	12	58000957	58000957	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:58000957G>T	ENST00000548198.1	+	3	1815	c.311G>T	c.(310-312)gGc>gTc	p.G104V	DTX3_ENST00000548804.1_Missense_Mutation_p.G104V|DTX3_ENST00000551632.1_Missense_Mutation_p.G107V|DTX3_ENST00000337737.3_Missense_Mutation_p.G104V			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	104					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GAGCTGATGGGCTGCCTGGCT	0.657000													12	31					0.00244969	0.002499	1	1	0
SIM2	6493	broad.mit.edu	37	21	38098578	38098578	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr21:38098578C>G	ENST00000290399.6	+	6	1315	c.702C>G	c.(700-702)ttC>ttG	p.F234L	SIM2_ENST00000430056.3_Missense_Mutation_p.F234L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	234	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TGTTCATGTTCAGGGCCAGCC	0.572000													16	24					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58517065	58517065	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:58517065C>G	ENST00000302819.5	-	7	1023	c.732G>C	c.(730-732)aaG>aaC	p.K244N	ACOX2_ENST00000459701.2_Missense_Mutation_p.K244N	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	244					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CAAAGTCCATCTTGGGTCCGA	0.502000													24	47					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811772	23811772	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:23811772G>C	ENST00000314520.3	+	1	1319	c.843G>C	c.(841-843)caG>caC	p.Q281H	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	281	Makorin-type Cys-His.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ATGCTGCCCAGAGGGAAGAAC	0.537000													17	35					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74865130	74865130	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:74865130G>A	ENST00000569840.2	+	1	593	c.19G>A	c.(19-21)Gat>Aat	p.D7N	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000565675.1_Missense_Mutation_p.D7N|MGAT5B_ENST00000301618.4_Missense_Mutation_p.D7N	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	7						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGTCAACCCCGATGGGAAGAT	0.632000													45	68					0	0	1	0	0
METTL18	92342	broad.mit.edu	37	1	169762212	169762212	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:169762212C>T	ENST00000310392.4	-	2	978	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	METTL18_ENST00000303469.2_Missense_Mutation_p.G209R|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	209						cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						TCTTTGGACCCTCCCTTGAAT	0.378000													29	94					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51250830	51250830	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:51250830C>T	ENST00000261842.5	+	14	1796	c.1690C>T	c.(1690-1692)Cag>Tag	p.Q564*	AP4E1_ENST00000560508.1_Nonsense_Mutation_p.Q489*	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	564					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ATTGACATCTCAGGCGCACTC	0.358000													33	55					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8770828	8770828	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:8770828G>A	ENST00000378641.3	+	31	3818	c.3343G>A	c.(3343-3345)Gaa>Aaa	p.E1115K	PLCB1_ENST00000378637.2_Missense_Mutation_p.E1115K|PLCB1_ENST00000338037.6_Missense_Mutation_p.E1115K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1115					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATAGCTAGAAGAAGCGCAAAG	0.358000													5	21					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34171327	34171327	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:34171327C>T	ENST00000588240.1	+	14	1247	c.1132C>T	c.(1132-1134)Cag>Tag	p.Q378*	TAF15_ENST00000592237.1_Nonsense_Mutation_p.Q287*|TAF15_ENST00000311979.3_Nonsense_Mutation_p.Q375*	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	378	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA 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)		TTCCTGCAATCAGTGCAATGA	0.443000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								28	69					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604620	179604620	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:179604620G>A	ENST00000589042.1	-	48	13564	c.13340C>T	c.(13339-13341)tCg>tTg	p.S4447L	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S4276L|TTN_ENST00000591111.1_Missense_Mutation_p.S4130L|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S4209L|TTN_ENST00000460472.2_Missense_Mutation_p.S4084L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4130	Ig-like 24.						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)			AGACTTTGCCGAAGTAACAAG	0.413000													28	76					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27389128	27389128	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:27389128C>G	ENST00000376087.4	-	1	293	c.128G>C	c.(127-129)cGa>cCa	p.R43P	ANKRD26_ENST00000436985.2_Missense_Mutation_p.R43P	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	43						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATCTCGGTCTCGGACGTGGTA	0.652000													42	73					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233507842	233507842	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:233507842G>A	ENST00000366624.3	+	6	1872	c.1611G>A	c.(1609-1611)ctG>ctA	p.L537L	MLK4_ENST00000366623.3_Silent_p.L537L	NM_032435.2	NP_115811.2																					GGCGGAGCCTGAACAGCAGCA	0.557000													17	51					0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53509190	53509190	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:53509190G>C	ENST00000301466.3	+	6	520	c.460G>C	c.(460-462)Gac>Cac	p.D154H		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	154					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	p.D154H(1)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						GCTGGAGTTTGACCTACTGAT	0.567000													55	121					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121942293	121942293	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:121942293C>T	ENST00000442488.2	-	4	1253	c.1186G>A	c.(1186-1188)Gac>Aac	p.D396N	FEZF1_ENST00000331178.4_Missense_Mutation_p.D392N|FEZF1_ENST00000427185.2_Missense_Mutation_p.D346N	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	396					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GGCTTCTTGTCGTTGTGGGTG	0.547000													30	79					0	0	1	0	0
HDAC10	83933	broad.mit.edu	37	22	50686515	50686515	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr22:50686515G>A	ENST00000216271.5	-	13	1493	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	HDAC10_ENST00000349505.4_Silent_p.L361L|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000448072.1_Silent_p.L331L	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	381					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGGCAGCAGAGGTGGAGGC	0.667000													25	8					0	0	1	0	0
NAA60	79903	broad.mit.edu	37	16	3534738	3534738	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:3534738G>C	ENST00000421765.3	+	5	588	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	NAA60_ENST00000570819.1_Intron|NAA60_ENST00000610180.1_Silent_p.L204L|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000572584.1_Silent_p.L204L|NAA60_ENST00000424546.2_Silent_p.L211L|NAA60_ENST00000575076.1_Silent_p.L204L|NAA60_ENST00000360862.5_Silent_p.L139L|NAA60_ENST00000577013.1_Silent_p.L96L|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000576916.1_Silent_p.L96L|NAA60_ENST00000608722.1_Silent_p.L204L|NAA60_ENST00000414063.2_Silent_p.L204L|NAA60_ENST00000407558.4_Silent_p.L204L|NAA60_ENST00000573580.1_Silent_p.L139L|NAA60_ENST00000608993.1_Silent_p.L139L			Q9H7X0	NAT15_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	0	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						TAGCCAGCCTGAGCCCCTGCT	0.612000													2	3					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97101150	97101150	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:97101150C>T	ENST00000371247.2	-	28	2751	c.2562G>A	c.(2560-2562)gaG>gaA	p.E854E	SORBS1_ENST00000371241.1_Silent_p.E504E|SORBS1_ENST00000371239.1_Silent_p.E631E|SORBS1_ENST00000361941.3_Silent_p.E854E|SORBS1_ENST00000306402.6_Silent_p.E601E|SORBS1_ENST00000371249.2_Silent_p.E636E|SORBS1_ENST00000353505.5_Silent_p.E705E|SORBS1_ENST00000393949.1_Silent_p.E824E|SORBS1_ENST00000277982.5_Silent_p.E876E|SORBS1_ENST00000371227.4_Silent_p.E808E|SORBS1_ENST00000347291.4_Silent_p.E666E|SORBS1_ENST00000371245.3_Silent_p.E705E|SORBS1_ENST00000607232.1_Silent_p.E1114E|SORBS1_ENST00000371246.2_Silent_p.E876E|SORBS1_ENST00000354106.3_Silent_p.E824E			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	854					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GCTGTGCCTTCTCagcaggag	0.408000													29	32					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20177982	20177982	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:20177982C>G	ENST00000524983.2	-	4	1098	c.810G>C	c.(808-810)caG>caC	p.Q270H	DBX1_ENST00000227256.3_Missense_Mutation_p.Q309H			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	270					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CAGGGCCCTTCTGGCCCACGT	0.711000													5	6					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47592558	47592558	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:47592558G>A	ENST00000371917.4	+	14	1780	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	594					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CGCAGGTCAGGAGAGGCTCAC	0.552000													9	20					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632479	143632479	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:143632479G>C	ENST00000408955.2	+	1	221	c.154G>C	c.(154-156)Gac>Cac	p.D52H		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GATCAGACTGGACAGCCGACT	0.512000													67	155					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122208499	122208499	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:122208499C>T	ENST00000263710.4	-	16	1902	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	CLASP1_ENST00000455322.2_Missense_Mutation_p.E505K|CLASP1_ENST00000541859.1_Missense_Mutation_p.E274K|CLASP1_ENST00000409078.3_Missense_Mutation_p.E505K|CLASP1_ENST00000397587.3_Missense_Mutation_p.E505K|CLASP1_ENST00000545861.1_Missense_Mutation_p.E273K|CLASP1_ENST00000541377.1_Missense_Mutation_p.E505K	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	505					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TTTCTGGCTTCTATTCTTGCT	0.289000													17	61					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154739651	154739651	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:154739651C>T	ENST00000404141.1	-	17	3038	c.2884G>A	c.(2884-2886)Gaa>Aaa	p.E962K	PAXIP1_ENST00000397192.1_Missense_Mutation_p.E962K|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	962	Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TTTAAGGATTCTTCCAAGCTG	0.433000													74	94					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152096135	152096135	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:152096135C>G	ENST00000409598.4	-	7	1548	c.381G>C	c.(379-381)gaG>gaC	p.E127D	SH3D19_ENST00000427414.2_Missense_Mutation_p.E127D|SH3D19_ENST00000409252.2_Missense_Mutation_p.E127D|SH3D19_ENST00000514152.1_Missense_Mutation_p.E127D|SH3D19_ENST00000455740.1_Missense_Mutation_p.E127D|SH3D19_ENST00000424281.1_Missense_Mutation_p.E127D|SH3D19_ENST00000304527.4_Missense_Mutation_p.E127D			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	127	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TATCAGAGCTCTCAGCCAGGG	0.522000													39	44					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61941159	61941159	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:61941159G>C	ENST00000422202.1	+	9	1244	c.1176G>C	c.(1174-1176)ctG>ctC	p.L392L	COL20A1_ENST00000358894.6_Silent_p.L385L|COL20A1_ENST00000435874.1_Silent_p.L392L|COL20A1_ENST00000326996.6_Silent_p.L385L			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	385	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCCTGGTCCTGAGCCAGGTGA	0.682000											OREG0026127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	8					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86675635	86675635	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:86675635G>C	ENST00000456692.2	+	19	2155	c.2040G>C	c.(2038-2040)gaG>gaC	p.E680D	RASA1_ENST00000506290.1_Missense_Mutation_p.E691D|RASA1_ENST00000512763.1_Missense_Mutation_p.E690D|RASA1_ENST00000274376.6_Missense_Mutation_p.E857D	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	857					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGCTTGTGGAGAAAATATTCA	0.299000													14	19					0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159609927	159609927	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:159609927G>A	ENST00000337808.6	+	7	1937	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	SCHIP1_ENST00000482804.1_Missense_Mutation_p.E227K|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.E530K|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.E441K|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.E503K|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.E414K|SCHIP1_ENST00000445224.2_Missense_Mutation_p.E211K|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.E222K	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		454						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CATCCGAGATGAGCTGCACAC	0.468000													34	23					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24784231	24784231	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:24784231C>T	ENST00000342947.3	-	3	779	c.354G>A	c.(352-354)ctG>ctA	p.L118L	DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.L118L	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	118					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CCTGCTTCCTCAGGGTTCCAA	0.522000													21	56					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31833510	31833510	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:31833510C>T	ENST00000544672.1	-	15	1607	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	SLC44A4_ENST00000375562.4_Silent_p.Q471Q|SLC44A4_ENST00000229729.6_Silent_p.Q513Q	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	513						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCCGGGCTATCTGCACAAGGG	0.572000													48	49					0	0	1	0	0
IGLV1-47	28822	broad.mit.edu	37	22	22712422	22712422	+	RNA	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr22:22712422G>T	ENST00000390294.2	+	0	221																											ATGTATACTGGTACCAGCAGC	0.562000													4	104					0.00909568	0.00920923	1	1	0
LCMT2	9836	broad.mit.edu	37	15	43620740	43620740	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:43620740C>G	ENST00000305641.5	-	1	2063	c.1948G>C	c.(1948-1950)Gaa>Caa	p.E650Q	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Missense_Mutation_p.E229Q	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	650					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TGTTGCTCTTCAGGAAGAAGG	0.438000													22	42					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37492054	37492054	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr22:37492054C>A	ENST00000381792.2	-	5	621	c.481G>T	c.(481-483)Gtg>Ttg	p.V161L	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.V170L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.V161L|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.V170L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.V161L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	170					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						GCCTGCACCACCTCGGGGCTC	0.632000													18	23					2.89027e-11	3.12118e-11	1	1	0
IRF2BP1	26145	broad.mit.edu	37	19	46388228	46388228	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:46388228C>T	ENST00000302165.3	-	1	1148	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		AGCTCGAACTCGTATCCTGGA	0.617000													13	32					0	0	1	0	0
CHTOP	26097	broad.mit.edu	37	1	153609066	153609066	+	Translation_Start_Site	SNP	T	T	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:153609066T>C	ENST00000368694.3	+	2	314	c.2T>C	c.(1-3)aTg>aCg	p.M1T	CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000368690.3_Start_Codon_SNP_p.M1T|CHTOP_ENST00000403433.1_Start_Codon_SNP_p.M1T	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						GATTCGAAGATGGCTGCACAG	0.433000													4	59					0	0	1	0	0
TOB1	10140	broad.mit.edu	37	17	48941243	48941243	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:48941243G>T	ENST00000499247.2	-	2	569	c.136C>A	c.(136-138)Cct>Act	p.P46T	TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000268957.3_Missense_Mutation_p.P46T	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	46					negative regulation of cell proliferation		SH3/SH2 adaptor activity	p.P46A(1)		breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGCTTTTCAGGATACCAGTGC	0.403000													48	122					1.06522e-23	1.1883e-23	1	1	0
GCSAM	257144	broad.mit.edu	37	3	111844081	111844081	+	Missense_Mutation	SNP	G	G	C	rs147855189		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:111844081G>C	ENST00000308910.4	-	5	395	c.211C>G	c.(211-213)Ccc>Gcc	p.P71A	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Missense_Mutation_p.P73A	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1			germinal center-associated, signaling and motility																		ACCTGGATGGGAGTAGATGAC	0.403000													16	52					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55806830	55806830	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:55806830C>T	ENST00000272313.5	-	9	1780	c.1453G>A	c.(1453-1455)Gac>Aac	p.D485N	SMEK2_ENST00000407823.3_Missense_Mutation_p.D485N|SMEK2_ENST00000345102.5_Missense_Mutation_p.D485N	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	485						microtubule organizing center|nucleus	protein binding	p.D485H(2)		kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCACATTTGTCTTCTGAAGTA	0.318000													24	40					0	0	1	0	0
CCDC96	257236	broad.mit.edu	37	4	7043724	7043724	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:7043724C>T	ENST00000310085.4	-	1	1004	c.942G>A	c.(940-942)cgG>cgA	p.R314R	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	314										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CCTGGCACTGCCGCTTCAACT	0.617000													42	85					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11521431	11521431	+	Silent	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:11521431G>T	ENST00000423059.4	-	7	2252	c.2001C>A	c.(1999-2001)gcC>gcA	p.A667A	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 6.					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)		CACCCGCATAGGCCAGAATGG	0.493000										HNSCC(18;0.044)			18	42					1.56452e-12	1.69403e-12	1	1	0
DBNL	28988	broad.mit.edu	37	7	44099669	44099669	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:44099669C>G	ENST00000494774.1	+	12	1094	c.1073C>G	c.(1072-1074)tCt>tGt	p.S358C	DBNL_ENST00000456905.1_Missense_Mutation_p.S309C|DBNL_ENST00000440166.1_Missense_Mutation_p.S254C|DBNL_ENST00000468694.1_Missense_Mutation_p.S366C|DBNL_ENST00000490734.2_Missense_Mutation_p.S263C|DBNL_ENST00000448521.1_Missense_Mutation_p.S357C|DBNL_ENST00000452943.1_Missense_Mutation_p.S333C|DBNL_ENST00000497184.1_3'UTR	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	357					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GGTGCTGGCTCTGAGCACATT	0.612000													9	15					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6670223	6670223	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:6670223C>T	ENST00000541778.1	-	12	1697	c.1209G>A	c.(1207-1209)aaG>aaA	p.K403K	NOP2_ENST00000382421.3_Silent_p.K440K|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000322166.5_Silent_p.K407K|NOP2_ENST00000399466.2_Silent_p.K403K|NOP2_ENST00000537442.1_Silent_p.K407K|NOP2_ENST00000545200.1_Silent_p.K403K			P46087	NOP2_HUMAN	NOP2 nucleolar protein	407					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CACCCGTGTTCTTCATCAGCT	0.547000													9	20					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9146373	9146373	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:9146373G>C	ENST00000383836.3	-	3	841	c.414C>G	c.(412-414)ctC>ctG	p.L138L	SRGAP3_ENST00000360413.3_Silent_p.L138L|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	138					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCTTTTTGAAGAGTCTGATGA	0.552000			T	RAF1	pilocytic astrocytoma								19	51					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													3	9					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109182061	109182061	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:109182061C>T	ENST00000326495.5	-	15	2946	c.2853G>A	c.(2851-2853)gtG>gtA	p.V951V	SSH1_ENST00000360239.3_Silent_p.V639V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	951	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCGCTGCTTCACCAGCCCGG	0.637000													27	89					0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7217689	7217689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:7217689G>A	ENST00000380728.2	-	4	538	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	GPS2_ENST00000389167.5_Nonsense_Mutation_p.Q80*|GPS2_ENST00000391950.3_Nonsense_Mutation_p.Q80*|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	80					cell cycle|inactivation of MAPK activity|JNK cascade|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)				TTCTCTTCCTGTAGAGCCAAA	0.463000													25	25					0	0	1	0	0
DECR1	1666	broad.mit.edu	37	8	91054995	91054995	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:91054995C>T	ENST00000522161.1	+	9	1361	c.678C>T	c.(676-678)ttC>ttT	p.F226F	DECR1_ENST00000220764.2_Silent_p.F235F			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	235					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			GAATGCGATTCAATGTGATTC	0.303000													41	82					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65026586	65026586	+	Silent	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:65026586C>A	ENST00000262138.3	+	4	452	c.450C>A	c.(448-450)ctC>ctA	p.L150L		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	150					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TTTCAGGCCTCAGTAACATCA	0.572000													44	80					2.29192e-23	2.55322e-23	1	1	0
DGAT2L6	347516	broad.mit.edu	37	X	69421860	69421860	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:69421860C>G	ENST00000333026.3	+	5	693	c.593C>G	c.(592-594)tCc>tGc	p.S198C		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	198					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CCAGGAGCCTCCACTCTCTTC	0.542000													13	9					0	0	1	0	0
MIPEP	4285	broad.mit.edu	37	13	24455840	24455840	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr13:24455840C>G	ENST00000382172.3	-	3	548	c.450G>C	c.(448-450)gaG>gaC	p.E150D	MIPEP_ENST00000469167.1_5'UTR	NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	150					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		GCACATACTTCTCTACCATGG	0.507000													17	35					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79426528	79426528	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:79426528G>C	ENST00000307745.7	+	27	5803	c.5803G>C	c.(5803-5805)Gat>Cat	p.D1935H																								GCAGGTTCTCGATGTGCGGCC	0.697000													4	59					0	0	1	0	0
GJB6	10804	broad.mit.edu	37	13	20797041	20797041	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr13:20797041A>C	ENST00000356192.6	-	5	1199	c.579T>G	c.(577-579)atT>atG	p.I193M	GJB6_ENST00000400065.3_Missense_Mutation_p.I193M|GJB6_ENST00000241124.6_Missense_Mutation_p.I193M|GJB6_ENST00000400066.3_Missense_Mutation_p.I193M	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	193					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		AAATCATAAAAATGGTAAACA	0.473000													19	36					0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35084757	35084757	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:35084757G>A	ENST00000290378.4	-	4	1123	c.468C>T	c.(466-468)gaC>gaT	p.D156D	ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	156					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CATCCCCAGAGTCCAGAACAA	0.547000													13	26					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45453040	45453040	+	Silent	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:45453040C>A	ENST00000321429.4	+	30	4115	c.3708C>A	c.(3706-3708)atC>atA	p.I1236I	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Silent_p.I1236I|DUOX1_ENST00000561166.1_Silent_p.I882I	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1236	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCTAGCTCATCATCCATGGTA	0.567000													21	89					1.66031e-10	1.78345e-10	1	1	0
KMT2A	4297	broad.mit.edu	37	11	118373660	118373660	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:118373660C>T	ENST00000534358.1	+	27	7076	c.7053C>T	c.(7051-7053)atC>atT	p.I2351I	KMT2A_ENST00000389506.5_Silent_p.I2348I|KMT2A_ENST00000354520.4_Silent_p.I2310I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.I2348I(1)									TTAGTAAAATCGGCTCCTTTG	0.473000													17	70					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118984862	118984862	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:118984862G>A	ENST00000336702.3	+	13	2058	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N	C2CD2L_ENST00000528586.1_Missense_Mutation_p.D314N	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	566						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						AGTGCAGGATGATGCAGGGAC	0.617000													22	84					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39960870	39960870	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:39960870G>C	ENST00000599117.1	+	18	1853	c.1486G>C	c.(1486-1488)Gag>Cag	p.E496Q	SUPT5H_ENST00000359191.6_Missense_Mutation_p.E492Q|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E496Q|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E492Q|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E496Q			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	496	KOW 3.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGTGCGGGTGGAGGAGAATTT	0.552000													51	92					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9631378	9631378	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:9631378C>G	ENST00000285199.7	+	15	2539	c.2443C>G	c.(2443-2445)Ctg>Gtg	p.L815V	USP43_ENST00000570475.1_Missense_Mutation_p.L810V|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GACCATGCCTCTGCGGTGGTC	0.587000													13	6					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196837022	196837022	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:196837022C>G	ENST00000312428.6	-	16	2102	c.2002G>C	c.(2002-2004)Gaa>Caa	p.E668Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	668	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGTGTTCTTCAAAAATTTCT	0.358000													16	54					0	0	1	0	0
CDK5	1020	broad.mit.edu	37	7	150753715	150753715	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:150753715C>T	ENST00000485972.1	-	5	945	c.264G>A	c.(262-264)aaG>aaA	p.K88K	CDK5_ENST00000297518.4_Silent_p.K88K	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	88	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CAAAATACTTCTTCAGGTCCT	0.527000													18	33					0	0	1	0	0
PNMAL1	55228	broad.mit.edu	37	19	46974246	46974246	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:46974246C>T	ENST00000313683.10	-	2	352	c.47G>A	c.(46-48)gGa>gAa	p.G16E	PNMAL1_ENST00000438932.2_Missense_Mutation_p.G16E|PNMAL1_ENST00000602246.1_Missense_Mutation_p.G16E	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	16										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		cacttccattcccctgcacca	0.527000													8	94					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53262010	53262010	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:53262010G>T	ENST00000294353.6	+	7	1526	c.1381G>T	c.(1381-1383)Gat>Tat	p.D461Y	ZYG11B_ENST00000545132.1_Missense_Mutation_p.D461Y|ZYG11B_ENST00000443756.2_Missense_Mutation_p.D461Y	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	461							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CAACCATGAGGATCAAAACAT	0.433000													18	21					5.26018e-13	5.7185e-13	1	1	0
NHS	4810	broad.mit.edu	37	X	17745288	17745288	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:17745288C>T	ENST00000380060.3	+	6	3337	c.2999C>T	c.(2998-3000)cCa>cTa	p.P1000L	NHS_ENST00000398097.3_Missense_Mutation_p.P844L	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1000						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TTGGCATCTCCATCAAGTGGC	0.468000													41	22					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	159992659	159992659	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:159992659G>A	ENST00000327245.5	-	26	5033	c.4187C>T	c.(4186-4188)tCa>tTa	p.S1396L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1396					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGGAGTACTGACTCTTCCAC	0.562000													43	43					0	0	1	0	0
ACTR6	64431	broad.mit.edu	37	12	100594632	100594632	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:100594632G>A	ENST00000188312.2	+	1	768	c.3G>A	c.(1-3)atG>atA	p.M1I	ACTR6_ENST00000551617.1_5'UTR|ACTR6_ENST00000550813.1_3'UTR|ACTR6_ENST00000546902.1_5'UTR|ACTR6_ENST00000552376.1_Start_Codon_SNP_p.M1I	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	1						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						GTGGTGAGATGACGACCTTAG	0.483000													26	44					0	0	1	0	0
LINC00933	100506874	broad.mit.edu	37	15	85121424	85121424	+	RNA	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:85121424G>C	ENST00000557887.1	+	0	624					NR_038273.1|NR_038274.1																						TGAATCGGAAGTTATAGCCAG	0.408000													5	17					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	63637148	63637148	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:63637148C>A	ENST00000577662.1	-	1	3	c.4G>T	c.(4-6)Gaa>Taa	p.E2*	CEP112_ENST00000317442.8_Missense_Mutation_p.L167F|CEP112_ENST00000392769.2_Missense_Mutation_p.L911F|CEP112_ENST00000541355.1_Missense_Mutation_p.L475F|CEP112_ENST00000535342.2_Missense_Mutation_p.L911F|CEP112_ENST00000537949.1_Missense_Mutation_p.L869F																							TCAATCCTTTCAATTTTGTTT	0.313000													40	62					5.48756e-27	6.1385e-27	1	1	0
GPN1	11321	broad.mit.edu	37	2	27862954	27862954	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:27862954C>G	ENST00000264718.3	+	10	825	c.804C>G	c.(802-804)ctC>ctG	p.L268L	GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000407583.3_Silent_p.L242L|GPN1_ENST00000458167.2_Silent_p.L159L|GPN1_ENST00000424214.1_Silent_p.L175L|GPN1_ENST00000503738.1_Silent_p.L159L|GPN1_ENST00000610189.1_Silent_p.L254L|GPN1_ENST00000515877.1_Silent_p.L175L			Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	254						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						TAGATGAACTCTTTGTGCAAG	0.363000													100	156					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25488659	25488659	+	RNA	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:25488659G>A	ENST00000453082.2	+	0	2287					NR_003343.1																						CTGAGGCGCTGAAGCTCAGGC	0.627000													5	27					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62491392	62491392	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:62491392C>G	ENST00000301785.5	-	3	937	c.745G>C	c.(745-747)Gac>Cac	p.D249H	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.D249H	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	249	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATACACGTGTCCAGGTTCACA	0.373000													46	85					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152352870	152352870	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:152352870C>G	ENST00000397345.3	-	173	24608	c.24406G>C	c.(24406-24408)Gaa>Caa	p.E8136Q	NEB_ENST00000603639.1_Missense_Mutation_p.E8136Q|NEB_ENST00000409198.1_Missense_Mutation_p.E6280Q|RIF1_ENST00000457745.1_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.E8136Q|NEB_ENST00000427231.2_Missense_Mutation_p.E8136Q|NEB_ENST00000397336.2_Missense_Mutation_p.E111Q|NEB_ENST00000509223.2_Missense_Mutation_p.E80Q|NEB_ENST00000172853.10_Missense_Mutation_p.E6280Q|NEB_ENST00000498015.2_Intron	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	6440					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCCATGTTTTCTTTGTATAAC	0.408000													5	14					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95116476	95116476	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:95116476C>T	ENST00000371501.4	-	30	3372	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	MYOF_ENST00000359263.4_Missense_Mutation_p.E1084K|MYOF_ENST00000358334.5_Missense_Mutation_p.E1071K|MYOF_ENST00000371502.4_Missense_Mutation_p.E1084K			Q9NZM1	MYOF_HUMAN	myoferlin	1084					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCATGTGTTTCTGAAGGAGCC	0.448000													27	27					0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118245786	118245786	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:118245786C>G	ENST00000252108.3	+	9	1423	c.1292C>G	c.(1291-1293)tCa>tGa	p.S431*	UBE4A_ENST00000431736.2_Nonsense_Mutation_p.S438*	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	431					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATGTATGCCTCAGATGCTTTC	0.473000													14	44					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97083511	97083511	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:97083511G>A	ENST00000335456.7	-	4	866	c.846C>T	c.(844-846)ttC>ttT	p.F282F	NUTM2F_ENST00000253262.4_Silent_p.F282F|NUTM2F_ENST00000341207.4_Silent_p.F282F					NUT family member 2F																		CAAATTCCAGGAACCTGTGGG	0.647000													3	3					0	0	1	0	0
CCDC96	257236	broad.mit.edu	37	4	7043514	7043514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:7043514C>G	ENST00000310085.4	-	1	1214	c.1152G>C	c.(1150-1152)caG>caC	p.Q384H	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	384										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						GCACCAGGCTCTGCTTCAGCT	0.537000													26	43					0	0	1	0	0
HAUS8	93323	broad.mit.edu	37	19	17170416	17170416	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:17170416G>T	ENST00000593360.1	-	5	2206	c.188C>A	c.(187-189)tCa>tAa	p.S63*	HAUS8_ENST00000448593.2_Nonsense_Mutation_p.S123*|HAUS8_ENST00000253669.5_Nonsense_Mutation_p.S124*			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	124					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						AGGTTTCTTTGATATTGTTTT	0.428000													38	65					8.20599e-20	9.09161e-20	1	1	0
NLRP13	126204	broad.mit.edu	37	19	56423967	56423967	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:56423967C>G	ENST00000588751.1	-	5	1240	c.1216G>C	c.(1216-1218)Gag>Cag	p.E406Q	NLRP13_ENST00000342929.3_Missense_Mutation_p.E406Q			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	406	NACHT.						ATP binding	p.E406Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGGATTTTCTCAACTTCACTT	0.458000													41	59					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136972133	136972133	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:136972133G>A	ENST00000359015.4	-	11	2137	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S	MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	593					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTGTCATCAGGAAGCACGTGC	0.358000													12	39					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90421896	90421896	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:90421896C>T	ENST00000369393.3	-	49	7625	c.7510G>A	c.(7510-7512)Gaa>Aaa	p.E2504K	MDN1_ENST00000428876.1_Missense_Mutation_p.E2504K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2504					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.E2504K(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTATTCACTTCGACTGCATTG	0.408000													49	106					0	0	1	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313563	1313563	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:1313563C>G	ENST00000296839.2	+	1	889	c.624C>G	c.(622-624)gtC>gtG	p.V208V		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	208					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		CCGACGGGGTCTTCCGCCGCC	0.761000													7	12					0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27261400	27261400	+	Splice_Site	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:27261400G>T	ENST00000238788.9	+	11	1355	c.1293G>T	c.(1291-1293)aaG>aaT	p.K431N	TMEM214_ENST00000404032.3_Splice_Site_p.K386N	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	431						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TTCCCAAGAAGGTGAGGAGCT	0.612000													15	34					3.41278e-10	3.6466e-10	1	1	0
DOCK9	23348	broad.mit.edu	37	13	99512764	99512764	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr13:99512764C>T	ENST00000376460.1	-	33	3672	c.3592G>A	c.(3592-3594)Gaa>Aaa	p.E1198K	DOCK9_ENST00000442173.1_Missense_Mutation_p.E1198K|DOCK9_ENST00000461998.1_5'UTR|DOCK9_ENST00000448493.2_Missense_Mutation_p.E1210K|DOCK9_ENST00000339416.2_Missense_Mutation_p.E1199K	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1199					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCCAGGGATTCATCCTTCACA	0.562000													3	3					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154228203	154228203	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:154228203C>T	ENST00000428931.1	+	18	2296	c.2129C>T	c.(2128-2130)tCt>tTt	p.S710F	UBAP2L_ENST00000343815.6_Missense_Mutation_p.S710F|UBAP2L_ENST00000361546.2_Missense_Mutation_p.S710F|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S721F	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	710					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCAACATCTTCTGGGCGCACT	0.453000													94	217					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72138245	72138245	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr14:72138245G>A	ENST00000555818.1	+	8	3013	c.2665G>A	c.(2665-2667)Gaa>Aaa	p.E889K	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E889K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E889K|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E364K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	889					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGTGCTCATTGAACAGGAAAC	0.473000													41	44					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47252002	47252002	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:47252002G>T	ENST00000296861.2	-	3	1308	c.915C>A	c.(913-915)caC>caA	p.H305Q		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	305					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGTGTCTGTGGTGGGGGCCTT	0.592000													45	181					2.64894e-19	2.93082e-19	1	1	0
TBC1D16	125058	broad.mit.edu	37	17	77922773	77922773	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:77922773A>C	ENST00000310924.2	-	8	1554	c.1439T>G	c.(1438-1440)tTc>tGc	p.F480C	TBC1D16_ENST00000572862.1_Missense_Mutation_p.F118C|TBC1D16_ENST00000576768.1_Missense_Mutation_p.F105C|TBC1D16_ENST00000570373.1_Missense_Mutation_p.F119C|TBC1D16_ENST00000340848.7_Missense_Mutation_p.F118C	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	480	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			ATTACGCCAGAACGCTCTGTG	0.607000													5	68					0	0	1	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67059160	67059160	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:67059160G>A	ENST00000447274.2	+	5	1398	c.223G>A	c.(223-225)Ggc>Agc	p.G75S	ANKRD13D_ENST00000514166.1_Missense_Mutation_p.G75S|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.G162S|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.G75S			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	75										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CAGTCTCCTGGGCTTCGAGCA	0.612000													12	30					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138417269	138417269	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:138417269C>G	ENST00000409968.1	+	25	4589	c.4411C>G	c.(4411-4413)Cgg>Ggg	p.R1471G	THSD7B_ENST00000543459.1_Missense_Mutation_p.F305L|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1443G|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1474G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGCTGCCATTCGGCAGTGCAT	0.443000													5	9					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107872854	107872854	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:107872854C>G	ENST00000379028.3	-	7	813	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	NRCAM_ENST00000413765.2_Missense_Mutation_p.E115Q|NRCAM_ENST00000425651.2_Missense_Mutation_p.E115Q|NRCAM_ENST00000351718.4_Missense_Mutation_p.E109Q|NRCAM_ENST00000379024.4_Missense_Mutation_p.E115Q|NRCAM_ENST00000379022.4_Missense_Mutation_p.E115Q			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	115	Ig-like 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCATAGGTCTCAGCTTTCCCT	0.468000													32	97					0	0	1	0	0
TSEN34	79042	broad.mit.edu	37	19	54695740	54695740	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:54695740G>T	ENST00000396383.1	+	3	723	c.412G>T	c.(412-414)Gag>Tag	p.E138*	TSEN34_ENST00000396388.2_Nonsense_Mutation_p.E138*|TSEN34_ENST00000302937.4_Nonsense_Mutation_p.E138*|TSEN34_ENST00000429671.2_Nonsense_Mutation_p.E138*			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	138					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTCAAGCCAGGAGGCCGGCTC	0.622000													15	66					2.35188e-11	2.54317e-11	1	1	0
FMNL1	752	broad.mit.edu	37	17	43321226	43321226	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:43321226A>T	ENST00000331495.3	+	18	2618	c.2282A>T	c.(2281-2283)gAg>gTg	p.E761V	FMNL1_ENST00000328118.3_Missense_Mutation_p.E761V|FMNL1_ENST00000587489.1_Missense_Mutation_p.E339V	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	761	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						ACAGAGTATGAGCGCAGCCTC	0.627000													5	34					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99032854	99032854	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:99032854C>G	ENST00000292478.4	-	2	262	c.12G>C	c.(10-12)gtG>gtC	p.V4V	ATP5J2-PTCD1_ENST00000437572.1_5'UTR|PTCD1_ENST00000555673.1_Silent_p.V53V|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.V53V	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCGAGTCTCACGAAGTCCA	0.552000													13	28					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62038838	62038838	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:62038838C>G	ENST00000280772.2	-	3	476	c.285G>C	c.(283-285)caG>caC	p.Q95H	ANK3_ENST00000373827.2_Missense_Mutation_p.Q89H|ANK3_ENST00000503366.1_Missense_Mutation_p.Q78H	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGCTTCTCTCTGCAGCAGCT	0.443000													29	35					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450484	110450484	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:110450484C>G	ENST00000260283.4	-	16	3470	c.3186G>C	c.(3184-3186)gaG>gaC	p.E1062D	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.E1026D|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.E1036D|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.E605D|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.E1026D|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.E1039D|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.E1036D	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1062					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AAGCTATTTTCTCTTCCTCTG	0.473000													31	67					0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13487045	13487045	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:13487045G>A	ENST00000379287.3	-	1	742	c.78C>T	c.(76-78)ttC>ttT	p.F26F	GFOD1-AS1_ENST00000446001.1_RNA|GFOD1_ENST00000603223.1_Silent_p.F26F	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	26						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)			CCTTCACCGCGAAGCCCTCGT	0.647000													22	55					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128070130	128070130	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:128070130C>T	ENST00000470056.1	+	6	1572	c.1412C>T	c.(1411-1413)cCa>cTa	p.P471L	GAPVD1_ENST00000297933.6_Missense_Mutation_p.P471L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.P471L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.P471L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.P471L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.P471L|GAPVD1_ENST00000495955.1_Missense_Mutation_p.P471L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.P471L|GAPVD1_ENST00000394084.1_Missense_Mutation_p.P471L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	471				P -> L (in Ref. 1; ABB71126).	endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCAACCACTCCAGCAAATAAA	0.388000													27	20					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36222983	36222983	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:36222983C>T	ENST00000222270.7	+	27	5612	c.5612C>T	c.(5611-5613)tCg>tTg	p.S1871L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.S1871L	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		CCCAACTACTCGCCATCCCGG	0.672000													6	18					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31525406	31525406	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:31525406G>C	ENST00000357033.4	-	56	8588	c.8382C>G	c.(8380-8382)ctC>ctG	p.L2794L	DMD_ENST00000445312.1_5'UTR|DMD_ENST00000474231.1_Silent_p.L334L|DMD_ENST00000378707.3_Silent_p.L334L|DMD_ENST00000378677.2_Silent_p.L2790L|DMD_ENST00000343523.2_Silent_p.L334L|DMD_ENST00000541735.1_Silent_p.L334L|DMD_ENST00000359836.1_Silent_p.L334L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2794					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACCTAATGTTGAGAGACTTTT	0.398000													17	16					0	0	1	0	0
FTH1	2495	broad.mit.edu	37	11	61732326	61732326	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:61732326T>C	ENST00000273550.7	-	4	659	c.425A>G	c.(424-426)cAg>cGg	p.Q142R	BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_Missense_Mutation_p.Q72R|FTH1_ENST00000526640.1_Missense_Mutation_p.Q112R	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	142	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GGCTTTCACCTGCTCATTCAG	0.483000													4	50					0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97625981	97625981	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:97625981G>A	ENST00000371203.5	+	9	1547	c.960G>A	c.(958-960)ctG>ctA	p.L320L	ENTPD1_ENST00000371207.3_Silent_p.L470L|ENTPD1_ENST00000543964.1_Silent_p.L350L|ENTPD1_ENST00000539125.1_Silent_p.L320L|RP11-248J23.7_ENST00000491114.1_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000453258.2_Silent_p.L465L|ENTPD1_ENST00000371205.4_Silent_p.L458L	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	458					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGCTGAACCTGACCAACATGA	0.522000													10	7					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31597423	31597423	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:31597423G>A	ENST00000376033.2	+	14	2289	c.2055G>A	c.(2053-2055)gtG>gtA	p.V685V	PRRC2A_ENST00000376007.4_Silent_p.V685V	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	685	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CACAGCCTGTGACCCTGGGGG	0.682000													19	20					0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35837060	35837060	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:35837060C>G	ENST00000394395.2	+	16	1478	c.1305C>G	c.(1303-1305)atC>atG	p.I435M	TADA2A_ENST00000225396.6_Missense_Mutation_p.I435M	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	435	SWIRM.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATTTCCTCATCAGAGAAGGAT	0.448000													36	83					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220267601	220267601	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:220267601C>G	ENST00000302637.5	+	1	147	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	IARS2_ENST00000366922.1_5'UTR	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	15					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	cgcggccgcccTGGCCACTGC	0.751000													7	13					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99670419	99670419	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:99670419C>G	ENST00000336292.6	+	5	1971	c.1851C>G	c.(1849-1851)ttC>ttG	p.F617L	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.F617L|SYNM_ENST00000560674.1_Missense_Mutation_p.F332L	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	618	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGCTACGGTTCAGGTTGGGCA	0.537000													13	14					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764254	92764254	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:92764254C>G	ENST00000318238.4	-	5	2247	c.1031G>C	c.(1030-1032)aGa>aCa	p.R344T	SAMD9L_ENST00000411955.1_Missense_Mutation_p.R344T|SAMD9L_ENST00000437805.1_Missense_Mutation_p.R344T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	344										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCCCCTTCTCTTACAAACAG	0.343000													9	114					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191900937	191900937	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:191900937C>T	ENST00000392320.2	-	17	1837	c.1523G>A	c.(1522-1524)cGt>cAt	p.R508H	STAT4_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Missense_Mutation_p.R508H	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	508					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GTTAAGACCACGACCAACGTA	0.453000													12	42					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142496514	142496514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:142496514C>G	ENST00000273482.6	+	4	962	c.571C>G	c.(571-573)Cta>Gta	p.L191V	TRPC1_ENST00000476941.1_Missense_Mutation_p.L225V	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	225					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CAGTCCAGCTCTAATAATGTT	0.343000													13	45					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41700605	41700605	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:41700605G>C	ENST00000310054.4	+	2	550	c.334G>C	c.(334-336)Gat>Cat	p.D112H	CYP2S1_ENST00000542619.1_5'UTR	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	112					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						AGGGACTTTTGATGGCCATGG	0.617000													12	33					0	0	1	0	0
SGK3	23678	broad.mit.edu	37	8	67734614	67734614	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:67734614G>T	ENST00000396596.1	+	6	551	c.337G>T	c.(337-339)Gtc>Ttc	p.V113F	C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.V113F|SGK3_ENST00000520976.1_Missense_Mutation_p.V113F|SGK3_ENST00000521198.2_Missense_Mutation_p.V113F|SGK3_ENST00000522398.1_Missense_Mutation_p.V113F|SGK3_ENST00000345714.4_Missense_Mutation_p.V113F	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	113	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TAGTCCAGATGTCAGAGCATT	0.328000													50	70					2.01807e-28	2.2637e-28	1	1	0
DUSP7	1849	broad.mit.edu	37	3	52088014	52088014	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:52088014G>A	ENST00000495880.1	-	2	1077	c.894C>T	c.(892-894)atC>atT	p.I298I	DUSP7_ENST00000296483.6_Silent_p.I247I			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	298					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	p.I247I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGTGGTCAGAGATGGGGATCT	0.567000													26	59					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153085577	153085577	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:153085577G>T	ENST00000285900.5	+	11	2116	c.1773G>T	c.(1771-1773)ttG>ttT	p.L591F	GRIA1_ENST00000340592.5_Missense_Mutation_p.L591F|GRIA1_ENST00000521843.2_Missense_Mutation_p.L522F|GRIA1_ENST00000518783.1_Missense_Mutation_p.L601F|GRIA1_ENST00000448073.4_Missense_Mutation_p.L601F|GRIA1_ENST00000518142.1_Missense_Mutation_p.L511F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	591					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCAACAGTTTGTGGTTCTCCC	0.488000													5	63					0.014758	0.0149236	1	1	0
USP16	10600	broad.mit.edu	37	21	30414378	30414378	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr21:30414378T>C	ENST00000334352.4	+	12	1306	c.1075T>C	c.(1075-1077)Ttt>Ctt	p.F359L	USP16_ENST00000535828.1_Intron|USP16_ENST00000399976.2_Missense_Mutation_p.F359L|USP16_ENST00000399975.3_Missense_Mutation_p.F358L	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	359					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						TGACCGCATCTTTGGTGGTGA	0.308000													3	39					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65299484	65299484	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:65299484G>A	ENST00000377990.2	+	3	1457	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	CEP68_ENST00000546106.1_Silent_p.L418L|CEP68_ENST00000537589.1_Silent_p.L30L|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Silent_p.L418L	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	418					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGCCAGCCCTGAGGGGTGCGA	0.627000													27	37					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220267580	220267580	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:220267580C>T	ENST00000302637.5	+	1	126	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C	IARS2_ENST00000366922.1_5'UTR	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	8					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GCTGCGCCCTcgcgggccggg	0.731000													7	10					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14157022	14157022	+	RNA	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:14157022C>T	ENST00000310358.7	+	0	1268							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GAATTATGTACTGTGGGAATA	0.507000													4	68					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27959792	27959792	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:27959792G>C	ENST00000269033.3	-	15	2490	c.2339C>G	c.(2338-2340)cCa>cGa	p.P780R	SSH2_ENST00000540801.1_Missense_Mutation_p.P807R|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	780					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						GTTCTTCTTTGGTGTATGGCA	0.478000													4	49					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209799093	209799093	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:209799093C>A	ENST00000391911.1	-	13	2265	c.1876G>T	c.(1876-1878)Gat>Tat	p.D626Y	LAMB3_ENST00000356082.4_Missense_Mutation_p.D626Y|LAMB3_ENST00000367030.3_Missense_Mutation_p.D626Y	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	626	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCTTTGCATCTAGGATCCGG	0.642000													8	67					3.09899e-07	3.23459e-07	1	1	0
RNF180	285671	broad.mit.edu	37	5	63510165	63510165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:63510165G>A	ENST00000389100.4	+	4	1084	c.1012G>A	c.(1012-1014)Gct>Act	p.A338T	RNF180_ENST00000296615.6_Missense_Mutation_p.A338T|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	338	Interaction with ZIC2 (By similarity).					integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CCTGCCCTCAGCTGGCAGGAG	0.498000													16	13					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6268181	6268181	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:6268181C>T	ENST00000379775.4	+	14	1698	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L	PFKFB3_ENST00000317350.4_Silent_p.L456L|PFKFB3_ENST00000540253.1_Silent_p.L470L|PFKFB3_ENST00000379789.4_Silent_p.L436L|PFKFB3_ENST00000379782.3_Silent_p.L456L|PFKFB3_ENST00000360521.2_Silent_p.L456L|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379785.1_Silent_p.L456L	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	456	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CTAACCCGCTCATGAGACGCA	0.527000													29	87					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160075867	160075867	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:160075867C>G	ENST00000263635.6	+	21	3734	c.3497C>G	c.(3496-3498)tCa>tGa	p.S1166*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.S1060*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1166						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						TTCCTCCTTTCAAAAGGTAGC	0.502000													20	42					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468321	10468321	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:10468321C>T	ENST00000382483.3	-	4	3510	c.3287G>A	c.(3286-3288)cGg>cAg	p.R1096Q		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1096					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCTGCTGGGCCGGCCCTGCTT	0.662000													14	17					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114839668	114839668	+	Missense_Mutation	SNP	C	C	T	rs104894377		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:114839668C>T	ENST00000310346.4	-	3	871	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	TBX5_ENST00000349716.5_Missense_Mutation_p.E19K|TBX5_ENST00000526441.1_Missense_Mutation_p.E69K|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Missense_Mutation_p.E69K	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	69					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.E69K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTGCCCACTTCGTGGAATTTT	0.463000													14	30					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165703548	165703548	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:165703548C>T	ENST00000230301.8	-	7	1149	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	C6orf118_ENST00000494696.2_5'UTR|C6orf118_ENST00000543069.1_3'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	377										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ATATGTTTCTCAGATGATTCT	0.289000													10	55					0	0	1	0	0
TRAPPC6A	79090	broad.mit.edu	37	19	45681425	45681425	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:45681425G>A	ENST00000006275.4	-	1	70	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	TRAPPC6A_ENST00000588062.1_Silent_p.L18L|TRAPPC6A_ENST00000592647.1_Silent_p.L18L|TRAPPC6A_ENST00000585934.1_Silent_p.L18L	NM_024108.2	NP_077013.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	18					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		TGAGCCCACAGCTCAGCCACC	0.667000													9	23					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47467943	47467943	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:47467943G>A	ENST00000398879.1	-	9	722	c.356C>T	c.(355-357)tCa>tTa	p.S119L	TNS3_ENST00000311160.9_Missense_Mutation_p.S119L|TNS3_ENST00000355730.3_Missense_Mutation_p.S119L|TNS3_ENST00000442536.2_Missense_Mutation_p.S119L|TNS3_ENST00000458317.2_Missense_Mutation_p.S119L			Q68CZ2	TENS3_HUMAN	tensin 3	119	Phosphatase tensin-type.					focal adhesion	protein binding	p.S119L(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CATGTAGGATGATATGACCAC	0.493000													15	47					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21968750	21968750	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr14:21968750G>C	ENST00000298717.4	-	6	1342	c.1191C>G	c.(1189-1191)ccC>ccG	p.P397P		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	397					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GAATATCCCAGGGTGGGTCAG	0.493000													15	22					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37014232	37014232	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr13:37014232T>A	ENST00000418263.1	+	6	1357	c.1007T>A	c.(1006-1008)tTt>tAt	p.F336Y	CCNA1_ENST00000255465.4_Missense_Mutation_p.F337Y|CCNA1_ENST00000440264.1_Missense_Mutation_p.F293Y|CCNA1_ENST00000449823.1_Missense_Mutation_p.F293Y	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	337					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GTTCTAGCTTTTGATCTGACA	0.443000													40	80					0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96730302	96730302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr14:96730302G>T	ENST00000216629.6	+	3	889	c.283G>T	c.(283-285)Gag>Tag	p.E95*	BDKRB1_ENST00000553356.1_Nonsense_Mutation_p.E95*|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	95					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CTTCTGGGCAGAGAATATCTG	0.552000													32	34					2.81731e-10	3.0143e-10	1	1	0
IGSF9B	22997	broad.mit.edu	37	11	133791102	133791102	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:133791102C>T	ENST00000321016.8	-	18	2748	c.2518G>A	c.(2518-2520)Gag>Aag	p.E840K	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E840K			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	840						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCTCTGCCTCGGCCTCTGCC	0.642000													19	68					0	0	1	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37475422	37475422	+	Missense_Mutation	SNP	C	C	G	rs141067688		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:37475422C>G	ENST00000002125.4	+	10	1295	c.1255C>G	c.(1255-1257)Cag>Gag	p.Q419E	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.Q321E	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		TGGAAGATATCAGAGGAATGC	0.408000													37	97					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124811000	124811000	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:124811000C>T	ENST00000423114.2	-	11	1834	c.1835G>A	c.(1834-1836)aGa>aAa	p.R612K	SLC12A8_ENST00000430155.2_Missense_Mutation_p.R384K|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000393469.4_Missense_Mutation_p.R583K|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000469902.1_Missense_Mutation_p.R583K			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	583					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						AGTGGATCTTCTCCAGACATC	0.433000													10	25					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110780045	110780045	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:110780045G>C	ENST00000395494.2	+	14	2592	c.2029G>C	c.(2029-2031)Gtg>Ctg	p.V677L	ATP2A2_ENST00000539276.2_Missense_Mutation_p.V704L|ATP2A2_ENST00000308664.6_Missense_Mutation_p.V704L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	704					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGGCGATGGCGTGAACGATGC	0.557000													15	43					0	0	1	0	0
KLK9	284366	broad.mit.edu	37	19	51507041	51507041	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:51507041G>C	ENST00000250366.6	-	4	555	c.522C>G	c.(520-522)ctC>ctG	p.L174L	KLK9_ENST00000376832.4_Silent_p.L174L|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Silent_p.L174L	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	174	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CCCAGTGACAGAGTTTGTTCT	0.572000													18	38					0	0	1	0	0
SRSF12	135295	broad.mit.edu	37	6	89808516	89808516	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:89808516G>A	ENST00000452027.2	-	5	760	c.567C>T	c.(565-567)tcC>tcT	p.S189S		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	189	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						CTATTGACTTGGACCTCTTTT	0.438000													76	139					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31282354	31282354	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:31282354G>A	ENST00000544665.3	+	6	578	c.507G>A	c.(505-507)atG>atA	p.M169I	ITGAM_ENST00000287497.8_Missense_Mutation_p.M169I	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	169	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTCGGCGGATGAAGGAGTTTG	0.507000													6	123					0	0	1	0	0
TRAPPC6A	79090	broad.mit.edu	37	19	45681424	45681424	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:45681424A>T	ENST00000006275.4	-	1	71	c.53T>A	c.(52-54)cTg>cAg	p.L18Q	TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.L18Q|TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.L18Q|TRAPPC6A_ENST00000585934.1_Missense_Mutation_p.L18Q	NM_024108.2	NP_077013.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	18					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		GTGAGCCCACAGCTCAGCCAC	0.672000													8	24					0	0	1	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416559	57416559	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:57416559C>T	ENST00000565912.1	+	2	3401	c.695C>T	c.(694-696)gCg>gTg	p.A232V	CX3CL1_ENST00000006053.6_Missense_Mutation_p.A270V|CX3CL1_ENST00000563383.1_Missense_Mutation_p.A276V			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	270	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCCGTGCCAGCGCACACGGAT	0.662000													12	27					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108348003	108348003	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:108348003G>A	ENST00000361582.3	+	8	906	c.676G>A	c.(676-678)Gat>Aat	p.D226N	DZIP3_ENST00000463306.1_Missense_Mutation_p.D226N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	226					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGAAGATGAAGATTTACCTAC	0.289000													29	58					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	470469	470469	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:470469G>C	ENST00000217244.3	-	10	1053	c.678C>G	c.(676-678)atC>atG	p.I226M	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.I226M|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.I226M|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.I90M	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	226	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CCTTCCGAAAGATCATACTTG	0.373000													5	41					0	0	1	0	0
XRCC2	7516	broad.mit.edu	37	7	152346062	152346062	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:152346062C>A	ENST00000359321.1	-	3	593	c.508G>T	c.(508-510)Gag>Tag	p.E170*	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	170					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		AGAGTAGACTCCTGTAAGTTC	0.428000								Homologous recombination					25	43					1.55469e-16	1.70386e-16	1	1	0
ZIM2	23619	broad.mit.edu	37	19	57293484	57293484	+	Silent	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:57293484C>A	ENST00000391708.3	-	10	1025	c.483G>T	c.(481-483)ccG>ccT	p.P161P	AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Silent_p.P161P|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Silent_p.P161P|ZIM2_ENST00000601070.1_Silent_p.P161P|ZIM2_ENST00000221722.5_Silent_p.P161P	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GTTTGAAGTCCGGGAACTATC	0.498000													20	47					3.62473e-10	3.86797e-10	1	1	0
CEP95	90799	broad.mit.edu	37	17	62532766	62532766	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:62532766G>C	ENST00000556440.2	+	18	2627	c.2117G>C	c.(2116-2118)aGa>aCa	p.R706T	CEP95_ENST00000553412.1_Missense_Mutation_p.R542T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	706						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						CAAAAGCAAAGATTACGAGAC	0.368000													15	52					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54591253	54591253	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr18:54591253C>T	ENST00000254442.3	+	22	3838	c.3627C>T	c.(3625-3627)ttC>ttT	p.F1209F	WDR7_ENST00000357574.3_Silent_p.F1176F|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1209										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GACGTGGGTTCACTGTTTGGG	0.512000													35	33					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17797617	17797617	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:17797617G>A	ENST00000518537.1	+	7	1130	c.850G>A	c.(850-852)Gag>Aag	p.E284K	PCM1_ENST00000524226.1_Intron|PCM1_ENST00000519253.1_Intron|PCM1_ENST00000325083.8_Intron			Q15154	PCM1_HUMAN	pericentriolar material 1	264					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TTCTGTAGCTGAGAGCACATC	0.403000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								3	2					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10764794	10764794	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:10764794C>A	ENST00000313243.2	-	14	2145	c.1763G>T	c.(1762-1764)cGt>cTt	p.R588L	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_3'UTR|MAK_ENST00000474039.1_Missense_Mutation_p.R588L|MAK_ENST00000354489.2_Missense_Mutation_p.R588L			P20794	MAK_HUMAN	male germ cell-associated kinase	588					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				ATTATAAGTACGTCCTGAAAA	0.438000													4	147					0.0215528	0.0217675	1	1	0
EPHB1	2047	broad.mit.edu	37	3	134670679	134670679	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:134670679C>A	ENST00000398015.3	+	3	960	c.590C>A	c.(589-591)cCc>cAc	p.P197H	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	197	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAAAAGTGTCCCAGCATTGTG	0.483000													58	109					5.12918e-33	5.76944e-33	1	1	0
NSG1	27065	broad.mit.edu	37	4	4393204	4393204	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:4393204G>C	ENST00000421177.2	+	7	2123	c.132G>C	c.(130-132)gtG>gtC	p.V44V	NSG1_ENST00000504171.1_Intron|NSG1_ENST00000433139.2_Silent_p.V44V|NSG1_ENST00000513555.1_Silent_p.V44V|NSG1_ENST00000506380.1_Silent_p.V44V|NSG1_ENST00000505246.1_Silent_p.V44V|NSG1_ENST00000397958.1_Silent_p.V44V																							TGGATAAGGTGGTCGTGAAAA	0.483000													9	32					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724883	140724883	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:140724883G>T	ENST00000253812.6	+	1	1283	c.1283G>T	c.(1282-1284)gGa>gTa	p.G428V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGATGGGGGAAGCCCGCCA	0.468000													39	31					6.29468e-14	6.87078e-14	1	1	0
TLK1	9874	broad.mit.edu	37	2	171906326	171906326	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:171906326C>T	ENST00000442919.2	-	10	1449	c.834G>A	c.(832-834)gtG>gtA	p.V278V	TLK1_ENST00000434911.2_Silent_p.V230V|TLK1_ENST00000521943.1_Silent_p.V278V|TLK1_ENST00000360843.3_Silent_p.V347V|TLK1_ENST00000431350.2_Silent_p.V326V	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	326					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGACTAACTTCACAAGATTCT	0.353000													14	47					0	0	1	0	0
SETD9	133383	broad.mit.edu	37	5	56207096	56207096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:56207096G>A	ENST00000285947.2	+	2	585	c.199G>A	c.(199-201)Gat>Aat	p.D67N	SETD9_ENST00000475908.1_Intron|SETD9_ENST00000541720.1_Missense_Mutation_p.D67N	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN	SET domain containing 9	67																	ATTCTTAAATGATTTCAATAA	0.373000													18	10					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111640	145111640	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:145111640C>T	ENST00000426825.1	-	13	1806	c.1725G>A	c.(1723-1725)gaG>gaA	p.E575E	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	575							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCAGGAAGCTCTCAGTGCTGA	0.677000													3	27					0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40464880	40464880	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:40464880G>A	ENST00000301825.3	+	9	1321	c.1203G>A	c.(1201-1203)caG>caA	p.Q401Q	ENTPD3_ENST00000456402.1_Silent_p.Q401Q|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Silent_p.Q401Q	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	401						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TCTGCTCACAGAATTGGAGTC	0.393000													38	100					0	0	1	0	0
SIX3	6496	broad.mit.edu	37	2	45169610	45169610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:45169610G>A	ENST00000260653.3	+	1	709	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	123					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGGGGCGTGCGAGGCCATCAA	0.677000													13	20					0	0	1	0	0
ANKRD2	26287	broad.mit.edu	37	10	99343453	99343453	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:99343453G>C	ENST00000307518.5	+	9	1321	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	ANKRD2_ENST00000298808.5_Missense_Mutation_p.E319Q|ANKRD2_ENST00000370655.1_Missense_Mutation_p.E325Q|ANKRD2_ENST00000455090.1_Missense_Mutation_p.E292Q			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	352					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		TAGTGGGCGAGAGACCCCTCA	0.662000													9	6					0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45674517	45674517	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr21:45674517C>T	ENST00000270172.3	-	8	1159	c.676G>A	c.(676-678)Gac>Aac	p.D226N	DNMT3L_ENST00000418993.1_Missense_Mutation_p.D226N	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	226					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CTCACTGTGTCTGTGACATCA	0.562000													16	30					0	0	1	0	0
IFFO1	25900	broad.mit.edu	37	12	6664956	6664956	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:6664956C>G	ENST00000336604.4	-	1	281	c.240G>C	c.(238-240)ctG>ctC	p.L80L	IFFO1_ENST00000356896.4_Silent_p.L80L|IFFO1_ENST00000396840.2_Silent_p.L80L	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	80						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						ACCGGAGGTTCAGGGTCTTGA	0.682000													20	46					0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129919041	129919041	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:129919041C>G	ENST00000281142.5	-	8	1106	c.603G>C	c.(601-603)gaG>gaC	p.E201D	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Missense_Mutation_p.E201D|SCLT1_ENST00000503215.1_Missense_Mutation_p.E178D	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	201						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTTCCATGTTCTCATTAGTAA	0.284000													14	42					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	624604	624604	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:624604G>A	ENST00000358353.3	-	3	536	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	CDHR5_ENST00000349570.7_Missense_Mutation_p.R72W|CDHR5_ENST00000529337.1_5'UTR|CDHR5_ENST00000397542.2_Missense_Mutation_p.R72W			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	72	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCCTGGATCCGAAATGCAAAG	0.617000													9	32					0	0	1	0	0
SP2	6668	broad.mit.edu	37	17	45994443	45994443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:45994443C>T	ENST00000376741.4	+	3	1143	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	336					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CACTGTACCCCAGAAGCCCTC	0.627000													20	51					0	0	1	0	0
PLIN2	123	broad.mit.edu	37	9	19118330	19118330	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:19118330G>C	ENST00000276914.2	-	7	1080	c.901C>G	c.(901-903)Cac>Gac	p.H301D	PLIN2_ENST00000411567.1_Missense_Mutation_p.H220D	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	301					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TCAGCACAGTGGGACTCATCA	0.403000													17	11					0	0	1	0	0
UBAC2	337867	broad.mit.edu	37	13	99853702	99853702	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr13:99853702G>A	ENST00000376440.2	+	1	540	c.37G>A	c.(37-39)Gac>Aac	p.D13N	UBAC2_ENST00000403766.3_Intron	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	0						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGAGTTTTTAGACAAACACAC	0.517000											OREG0022482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	43					0	0	1	0	0
SMARCD1	6602	broad.mit.edu	37	12	50483729	50483729	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:50483729G>C	ENST00000394963.4	+	7	1232	c.834G>C	c.(832-834)gtG>gtC	p.V278V	SMARCD1_ENST00000381513.4_Silent_p.V278V|SMARCD1_ENST00000548573.1_Silent_p.V76V	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	278	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CGGGAGACGTGAATGTACGGT	0.572000													11	24					0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74136183	74136183	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:74136183C>T	ENST00000322957.6	-	2	648	c.294G>A	c.(292-294)cgG>cgA	p.R98R		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	98					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGGCGCGCTCCGCGACGTGC	0.736000													6	20					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1955246	1955246	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:1955246C>G	ENST00000382895.3	+	14	2764	c.2333C>G	c.(2332-2334)tCa>tGa	p.S778*	WHSC1_ENST00000382888.3_Nonsense_Mutation_p.S126*|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Nonsense_Mutation_p.S778*|WHSC1_ENST00000382892.2_Nonsense_Mutation_p.S778*|WHSC1_ENST00000508803.1_Nonsense_Mutation_p.S778*	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	778					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCAAGGCCGTCAAAAGGTACA	0.577000			T	IGH@	MM								37	69					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7526198	7526198	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:7526198C>T	ENST00000313599.3	-	14	3505	c.3448G>A	c.(3448-3450)Gag>Aag	p.E1150K	CD163L1_ENST00000416109.2_Missense_Mutation_p.E1160K|CD163L1_ENST00000396630.1_Missense_Mutation_p.E1150K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1150	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCACAGCTCTCTGTTTCAGTT	0.473000													15	162					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	65					0	0	1	0	0
SUMF1	285362	broad.mit.edu	37	3	4494722	4494722	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:4494722G>A	ENST00000272902.5	-	2	317	c.282C>T	c.(280-282)atC>atT	p.I94I	SUMF1_ENST00000383843.5_Silent_p.I94I|SUMF1_ENST00000534863.1_Silent_p.I94I|SUMF1_ENST00000405420.2_Silent_p.I94I|SUMF1_ENST00000458465.2_Silent_p.I94I	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	94						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CTCCAGCAGGGATGGGGACCA	0.488000													6	18					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8527461	8527461	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:8527461C>G	ENST00000348943.3	+	3	564	c.332C>G	c.(331-333)tCa>tGa	p.S111*	HNRNPM_ENST00000325495.4_Nonsense_Mutation_p.S111*	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	111	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAAGGAAAGTCAAGGGTAAGT	0.418000													41	93					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5724873	5724873	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:5724873G>A	ENST00000381624.3	+	2	187	c.126G>A	c.(124-126)ggG>ggA	p.G42G	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	42						integral to membrane											ACGTTCAAGGGGTATGTGGCT	0.413000													30	108					0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74103522	74103522	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:74103522G>C	ENST00000324896.4	+	2	449	c.60G>C	c.(58-60)agG>agC	p.R20S	GTF2I_ENST00000416070.1_Missense_Mutation_p.R20S|GTF2I_ENST00000353920.4_Missense_Mutation_p.R20S|GTF2I_ENST00000443166.1_Missense_Mutation_p.R20S|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.R20S	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	20					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CGGAGAGCAGGATGGTGGTGA	0.512000													20	51					0	0	1	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76165889	76165889	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:76165889C>G	ENST00000267938.4	+	5	950	c.568C>G	c.(568-570)Caa>Gaa	p.Q190E	UBE2Q2_ENST00000569423.1_Missense_Mutation_p.Q155E|UBE2Q2_ENST00000338677.4_Missense_Mutation_p.Q190E|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.Q174E	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	190					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						TAGGAAGACTCAAAGGCAAGA	0.338000													8	36					0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202339369	202339369	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:202339369G>C	ENST00000194530.3	+	6	680		c.e6-1		STRADB_ENST00000392249.2_Splice_Site	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta						activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GTTTATCCTAGAAAGCCGTGA	0.393000													23	58					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282728	152282728	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:152282728C>G	ENST00000368799.1	-	3	4669	c.4634G>C	c.(4633-4635)aGa>aCa	p.R1545T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1545	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCATTTCTTGTTTGCCT	0.587000									Ichthyosis				92	207					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112944774	112944774	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:112944774C>G	ENST00000331203.2	+	8	1282	c.1011C>G	c.(1009-1011)atC>atG	p.I337M	FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Missense_Mutation_p.I203M|FBLN7_ENST00000409450.3_Missense_Mutation_p.I291M	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	337					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCAAGACCATCTCCTTCCATT	0.642000													34	46					0	0	1	0	0
MFSD3	113655	broad.mit.edu	37	8	145736053	145736053	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:145736053C>G	ENST00000301327.4	+	3	1163	c.903C>G	c.(901-903)gtC>gtG	p.V301V		NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	301	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGCCTTGGTCTTCCACCTGG	0.647000													27	59					0	0	1	0	0
SETD9	133383	broad.mit.edu	37	5	56207237	56207237	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:56207237G>A	ENST00000285947.2	+	2	726	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	SETD9_ENST00000475908.1_3'UTR|SETD9_ENST00000541720.1_Missense_Mutation_p.E114K	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN	SET domain containing 9	114																	TAAACCAGAAGAAATTCTTTA	0.383000													18	23					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111667863	111667863	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:111667863G>A	ENST00000431670.2	+	10	2983	c.2572G>A	c.(2572-2574)Gat>Aat	p.D858N	PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000393925.3_Missense_Mutation_p.D858N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.D815N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.D815N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.D842N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	858						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGCTGATGCTGATGCTGTTGC	0.483000													16	37					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61432470	61432470	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:61432470G>T	ENST00000424789.2	+	12	2083	c.2079G>T	c.(2077-2079)atG>atT	p.M693I	TANC2_ENST00000389520.4_Missense_Mutation_p.M693I	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	693							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGTGCAATATGAAGTTCCCAA	0.473000													19	61					2.94398e-08	3.11693e-08	1	1	0
NGLY1	55768	broad.mit.edu	37	3	25805695	25805695	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:25805695C>G	ENST00000428257.1	-	3	461	c.354G>C	c.(352-354)aaG>aaC	p.K118N	NGLY1_ENST00000396649.3_Missense_Mutation_p.K118N|NGLY1_ENST00000417874.2_Missense_Mutation_p.K76N|NGLY1_ENST00000280700.5_Missense_Mutation_p.K118N|NGLY1_ENST00000422724.2_Missense_Mutation_p.K41N	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	118					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CTTTGTGGCTCTTATTTGAGC	0.458000													38	116					0	0	1	0	0
UAP1	6675	broad.mit.edu	37	1	162549266	162549266	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:162549266C>T	ENST00000271469.3	+	4	836	c.534C>T	c.(532-534)ttC>ttT	p.F178F	UAP1_ENST00000367926.4_Silent_p.F178F|UAP1_ENST00000367925.1_Silent_p.F178F|UAP1_ENST00000367924.1_Silent_p.F178F			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	178					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AGGAGTTCTTCACCAAGCACA	0.393000													17	46					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28900789	28900789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:28900789C>T	ENST00000375664.4	+	10	1849	c.1240C>T	c.(1240-1242)Caa>Taa	p.Q414*	WAC_ENST00000347934.4_Nonsense_Mutation_p.Q356*|WAC_ENST00000375646.1_Nonsense_Mutation_p.Q307*|WAC_ENST00000354911.4_Nonsense_Mutation_p.Q459*			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	p.Q459*(1)|p.Q459E(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AAGCACACCTCAAACTAACAC	0.433000													36	78					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189020184	189020184	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:189020184C>T	ENST00000536972.1	-	5	873	c.626G>A	c.(625-627)aGa>aAa	p.R209K	TRIML2_ENST00000512729.1_Intron|TRIML2_ENST00000326754.3_Intron			Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	0	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTCCCAGCATCTTACCTTGAG	0.448000													25	43					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52387644	52387644	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:52387644G>C	ENST00000420323.2	+	20	3736	c.3475G>C	c.(3475-3477)Gag>Cag	p.E1159Q		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1159	Stem (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)		GTACGCCATCGAGCAGGTGGG	0.637000													6	4					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22163484	22163484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:22163484G>A	ENST00000356766.6	+	13	1648	c.1500G>A	c.(1498-1500)atG>atA	p.M500I	PIWIL2_ENST00000454009.2_Missense_Mutation_p.M500I|PIWIL2_ENST00000521356.1_Missense_Mutation_p.M500I	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	500					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TTTCTTTTATGACCGGAATCC	0.488000													16	28					0	0	1	0	0
GALK1	2584	broad.mit.edu	37	17	73760040	73760040	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:73760040G>A	ENST00000588479.1	-	2	867	c.293C>T	c.(292-294)tCg>tTg	p.S98L	GALK1_ENST00000225614.2_Missense_Mutation_p.S98L|GALK1_ENST00000437911.1_Missense_Mutation_p.S128L			P51570	GALK1_HUMAN	galactokinase 1	98					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGCTCCAGCGAGCGCTGGGC	0.637000													4	25					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56536120	56536120	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:56536120G>C	ENST00000394048.5	+	25	2908	c.2644G>C	c.(2644-2646)Gag>Cag	p.E882Q	ESYT1_ENST00000541590.1_Missense_Mutation_p.E892Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.E892Q|ESYT1_ENST00000550878.1_Intron	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	882						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GCCCCTCTCAGAGCTCCTCGT	0.587000													37	64					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47287947	47287947	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:47287947G>C	ENST00000319190.5	+	19	2560	c.2192G>C	c.(2191-2193)gGt>gCt	p.G731A	TTC7A_ENST00000394850.2_Missense_Mutation_p.G755A|TTC7A_ENST00000263737.6_Missense_Mutation_p.G377A|TTC7A_ENST00000409245.1_Missense_Mutation_p.G697A	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	731							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AAGGAAGCAGGTTTCTGCATC	0.612000													37	109					0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5866613	5866613	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:5866613C>G	ENST00000252675.5	-	5	1686	c.1124G>C	c.(1123-1125)tGa>tCa	p.*375S	FUT5_ENST00000588525.1_Nonstop_Mutation_p.*375S			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	0					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GCCGGCCTCTCAGGTGAACCA	0.632000													17	29					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6349680	6349680	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:6349680G>C	ENST00000335585.5	-	6	706	c.683C>G	c.(682-684)tCt>tGt	p.S228C	PPP2R2C_ENST00000382599.4_Missense_Mutation_p.S228C|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.S221C|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.S211C|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.S221C	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	228					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						ATGGAACTCAGATGCTGTGAT	0.612000													10	30					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505164	47505164	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:47505164G>A	ENST00000371901.3	+	8	1283	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	CYP4X1_ENST00000466294.1_3'UTR|CYP4X1_ENST00000538609.1_Missense_Mutation_p.E344K	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	345						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						ATGCCGGGAGGAGGTCAGGGG	0.507000													17	17					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75269197	75269197	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:75269197C>T	ENST00000546196.1	-	5	3165	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N	BCAR1_ENST00000542031.2_Missense_Mutation_p.D532N|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Missense_Mutation_p.D552N|BCAR1_ENST00000162330.5_Missense_Mutation_p.D534N|BCAR1_ENST00000538440.2_Missense_Mutation_p.D534N|BCAR1_ENST00000418647.3_Missense_Mutation_p.D580N|BCAR1_ENST00000535626.2_Missense_Mutation_p.D386N|BCAR1_ENST00000420641.3_Missense_Mutation_p.D552N|BCAR1_ENST00000393420.6_Missense_Mutation_p.D552N			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	534	Ser-rich.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGGCACGGTCAGATGTGTGG	0.667000													38	43					0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41925949	41925949	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:41925949G>C	ENST00000317310.4	+	2	108	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	CD300LG_ENST00000586233.1_Missense_Mutation_p.E23Q|CD300LG_ENST00000588884.1_Missense_Mutation_p.E23Q|CD300LG_ENST00000539718.1_Missense_Mutation_p.E23Q|CD300LG_ENST00000377203.4_Missense_Mutation_p.E23Q|CD300LG_ENST00000293396.8_Missense_Mutation_p.E23Q	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	23	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGAGGGCCCAGAGGAAATCAG	0.552000													4	68					0	0	1	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313320	1313320	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:1313320C>G	ENST00000296839.2	+	1	646	c.381C>G	c.(379-381)ctC>ctG	p.L127L		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	127					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ACATCGCGCTCATCGCCATGG	0.706000													10	23					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130435420	130435420	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:130435420G>C	ENST00000356763.3	-	9	2708	c.2151C>G	c.(2149-2151)ctC>ctG	p.L717L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	717					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTAAAACACTGAGCAGAACAA	0.303000													7	16					0	0	1	0	0
TMPPE	643853	broad.mit.edu	37	3	33134500	33134500	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:33134500C>A	ENST00000342462.4	-	2	1378	c.1188G>T	c.(1186-1188)caG>caT	p.Q396H	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.Q259H	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	396						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						AGGGGAAGATCTGCCCAGCAT	0.552000													15	31					1.05317e-09	1.12089e-09	1	1	0
OGDH	4967	broad.mit.edu	37	7	44737008	44737008	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:44737008G>C	ENST00000222673.5	+	16	2133	c.2091G>C	c.(2089-2091)aaG>aaC	p.K697N	OGDH_ENST00000444676.1_Missense_Mutation_p.K712N|OGDH_ENST00000447398.1_Missense_Mutation_p.K708N|OGDH_ENST00000439616.2_Missense_Mutation_p.K547N|OGDH_ENST00000449767.1_Missense_Mutation_p.K693N|OGDH_ENST00000543843.1_Missense_Mutation_p.K648N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	697					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ATGTGGACAAGAGAACCTGCA	0.542000													19	35					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105921764	105921764	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:105921764C>T	ENST00000357060.3	-	26	3484	c.3369G>A	c.(3367-3369)atG>atA	p.M1123I	WDR96_ENST00000428666.1_Missense_Mutation_p.M1124I	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1123										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTCCTCCCATCATGTCCATCA	0.463000													26	194					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696035	222696035	+	Missense_Mutation	SNP	G	G	A	rs144597197	byFrequency	TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:222696035G>A	ENST00000343410.6	-	9	2141	c.2083C>T	c.(2083-2085)Cgc>Tgc	p.R695C	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	695					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R695C(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTGCCCTGGCGGACGTGGGGC	0.562000													24	314					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111425146	111425146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:111425146C>A	ENST00000535254.1	-	7	764	c.697G>T	c.(697-699)Gaa>Taa	p.E233*	BUB1_ENST00000409311.1_Nonsense_Mutation_p.E253*|BUB1_ENST00000302759.6_Nonsense_Mutation_p.E253*	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	253	Necessary for interaction with BUB3.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GCTCTCAATTCTTCAAAGGAA	0.373000													17	64					1.9806e-07	2.07796e-07	1	1	0
CEP76	79959	broad.mit.edu	37	18	12699052	12699052	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr18:12699052G>C	ENST00000262127.2	-	4	671	c.446C>G	c.(445-447)tCt>tGt	p.S149C	CEP76_ENST00000586887.1_5'UTR|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	149					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AACAGGTTTAGAACGAAAACG	0.368000													31	67					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39595520	39595520	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:39595520C>A	ENST00000246646.3	-	3	666	c.667G>T	c.(667-669)Gac>Tac	p.D223Y		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	223	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCCTCCAGGTCGGCCTTGGCC	0.642000													17	48					7.05477e-17	7.75259e-17	1	1	0
ATN1	1822	broad.mit.edu	37	12	7044722	7044722	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:7044722C>T	ENST00000356654.4	+	5	529	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	ATN1_ENST00000396684.2_Missense_Mutation_p.R98W	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	98					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GGAACTCCCTCGGCCACAGTC	0.517000													10	35					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101136554	101136554	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:101136554G>C	ENST00000394095.2	-	5	418	c.365C>G	c.(364-366)gCt>gGt	p.A122G	SENP7_ENST00000394091.1_Intron|SENP7_ENST00000394094.2_Missense_Mutation_p.A122G|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000314261.7_Intron|SENP7_ENST00000348610.3_Missense_Mutation_p.A89G	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	122					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACATAAATTAGCATCGTTTCT	0.398000													7	112					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203044796	203044796	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:203044796C>T	ENST00000367240.2	+	28	3949	c.3422C>T	c.(3421-3423)tCc>tTc	p.S1141F	PPFIA4_ENST00000447715.2_Missense_Mutation_p.S1140F|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S647F|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S647F|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S656F|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S869F			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	656					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CTCAGCGCTTCCGCGGAGACC	0.692000													8	9					0	0	1	0	0
MYBL1	4603	broad.mit.edu	37	8	67488517	67488517	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:67488517G>C	ENST00000522677.3	-	10	1605	c.1195C>G	c.(1195-1197)Cag>Gag	p.Q399E	MYBL1_ENST00000524176.2_Missense_Mutation_p.Q399E|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	399	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TCATTGTGCTGAATTCTCATT	0.408000													39	65					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42679096	42679096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:42679096C>T	ENST00000232978.8	+	13	2088	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	634					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGCGAATTCAGGAAATGAA	0.423000													42	90					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13376975	13376975	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:13376975G>A	ENST00000254508.5	-	28	3904	c.3822C>T	c.(3820-3822)ctC>ctT	p.L1274L		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1274					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCTCATCCGAGAGTTCTCTGG	0.622000													29	36					0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107395695	107395695	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:107395695G>C	ENST00000008527.5	-	4	1309	c.442C>G	c.(442-444)Cta>Gta	p.L148V		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	148	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TTATAAGTTAGAGGCGGTTGT	0.358000													25	67					0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939724	12939724	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:12939724C>A	ENST00000235349.5	-	4	1148	c.1078G>T	c.(1078-1080)Gat>Tat	p.D360Y		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	360										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACAGTCATCTAAATCCAGG	0.507000													73	143					3.48785e-55	3.93962e-55	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49425449	49425449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:49425449G>A	ENST00000301067.7	-	39	13038	c.13039C>T	c.(13039-13041)Cag>Tag	p.Q4347*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTTGGCCCCTGAGGTTTGGGG	0.622000													4	11					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274349	103274349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:103274349C>T	ENST00000233969.2	+	2	758	c.616C>T	c.(616-618)Cag>Tag	p.Q206*		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	206						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CACTTTGCTCCAGAACCTGCT	0.498000													49	152					0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69421865	69421865	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:69421865C>G	ENST00000333026.3	+	5	698	c.598C>G	c.(598-600)Ctc>Gtc	p.L200V		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	200					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						AGCCTCCACTCTCTTCCTCAA	0.542000													13	8					0	0	1	0	0
HMGB2	3148	broad.mit.edu	37	4	174253358	174253358	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:174253358C>A	ENST00000296503.5	-	5	1376	c.503G>T	c.(502-504)aGt>aTt	p.S168I	HMGB2_ENST00000438704.2_Missense_Mutation_p.S168I|HMGB2_ENST00000446922.2_Missense_Mutation_p.S168I			P26583	HMGB2_HUMAN	high mobility group box 2	168					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TCCTGCTTCACTTTTGCCCTT	0.433000													9	49					2.80697e-09	2.98356e-09	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140724717	140724717	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:140724717G>C	ENST00000253812.6	+	1	1117	c.1117G>C	c.(1117-1119)Gac>Cac	p.D373H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACGTGCATGACCGAGATTC	0.433000													41	32					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70255949	70255949	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:70255949G>C	ENST00000301843.8	+	5	380	c.174G>C	c.(172-174)ctG>ctC	p.L58L	CTTN_ENST00000346329.3_Silent_p.L58L|CTTN_ENST00000376561.3_Silent_p.L58L|CTTN_ENST00000527622.1_3'UTR	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	58						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TACACAAGCTGAGGGAGAATG	0.428000													56	136					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38799897	38799897	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:38799897C>G	ENST00000308979.2	-	4	829	c.556G>C	c.(556-558)Gac>Cac	p.D186H	TLR1_ENST00000502213.2_Missense_Mutation_p.D186H	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	186					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GTGTTAAAGTCTTGAAGGCCC	0.413000													5	18					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33602689	33602689	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:33602689G>A	ENST00000170564.2	+	12	1959	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	549						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CCGTGAGCGGGATGAGTTTGC	0.587000													33	64					0	0	1	0	0
TCF25	22980	broad.mit.edu	37	16	89971449	89971449	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:89971449G>A	ENST00000263346.8	+	14	1629	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	TCF25_ENST00000263347.7_Missense_Mutation_p.E290K	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	525					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GAACGTCCACGAGGTTCTGCA	0.642000													6	20					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28899735	28899735	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:28899735C>T	ENST00000375664.4	+	9	1747	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*	WAC_ENST00000347934.4_Nonsense_Mutation_p.Q322*|WAC_ENST00000375646.1_Nonsense_Mutation_p.Q273*|WAC_ENST00000428935.1_Nonsense_Mutation_p.Q380*|WAC_ENST00000354911.4_Nonsense_Mutation_p.Q425*			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCAAGCTGCTCAGCTCTCTAC	0.368000													31	83					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17595505	17595505	+	Missense_Mutation	SNP	C	C	G	rs138227792		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:17595505C>G	ENST00000377813.1	-	24	4374	c.4071G>C	c.(4069-4071)aaG>aaC	p.K1357N	RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000246043.4_Missense_Mutation_p.K1357N|RRBP1_ENST00000455029.2_Missense_Mutation_p.K698N|RRBP1_ENST00000377807.2_Missense_Mutation_p.K924N|RRBP1_ENST00000360807.4_Missense_Mutation_p.K924N			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1357					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TTGTTAACTTCTTCTCTTTTT	0.597000													13	44					0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44574905	44574905	+	Missense_Mutation	SNP	G	G	A	rs140304055	by1000genomes	TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:44574905G>A	ENST00000372409.3	+	14	1859	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	499						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GCATGTCTTTGAGGCCCTCCA	0.627000													32	47					0	0	1	0	0
ALAS1	211	broad.mit.edu	37	3	52245348	52245348	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:52245348G>C	ENST00000394965.2	+	10	1740	c.1380G>C	c.(1378-1380)ctG>ctC	p.L460L	ALAS1_ENST00000310271.2_Silent_p.L460L|ALAS1_ENST00000469224.1_Silent_p.L460L|ALAS1_ENST00000484952.1_Silent_p.L460L	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	460					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CGAGTTCTCTGATTGACACCG	0.522000													14	44					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9632212	9632212	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:9632212C>T	ENST00000285199.7	+	15	3373	c.3277C>T	c.(3277-3279)Cca>Tca	p.P1093S	USP43_ENST00000570475.1_Missense_Mutation_p.P1088S|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AAGGACTGTTCCAGGGGAGCA	0.547000													38	48					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7044876	7044876	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:7044876C>T	ENST00000356654.4	+	5	683	c.446C>T	c.(445-447)tCt>tTt	p.S149F	ATN1_ENST00000396684.2_Missense_Mutation_p.S149F	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	149					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GACTCATCTTCTGGCCTGTCC	0.617000													14	28					0	0	1	0	0
GPR68	8111	broad.mit.edu	37	14	91701130	91701130	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr14:91701130G>T	ENST00000531499.2	-	2	604	c.265C>A	c.(265-267)Cac>Aac	p.H89N	GPR68_ENST00000238699.3_Missense_Mutation_p.H99N|GPR68_ENST00000535815.1_Missense_Mutation_p.H89N			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	89					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AGGTCGCCGTGAGACCAGTTG	0.617000													4	4					0.00909568	0.00920923	1	1	0
CNGB3	54714	broad.mit.edu	37	8	87591076	87591076	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:87591076C>T	ENST00000320005.5	-	17	1991	c.1944G>A	c.(1942-1944)caG>caA	p.Q648Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	648					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTTAGCCTTCTGCTTTAAAA	0.428000													17	40					0	0	1	0	0
FANCL	55120	broad.mit.edu	37	2	58425731	58425731	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:58425731G>A	ENST00000402135.3	-	7	574	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	FANCL_ENST00000540646.1_Intron|FANCL_ENST00000403676.1_Nonsense_Mutation_p.Q63*|FANCL_ENST00000233741.4_Nonsense_Mutation_p.Q180*|FANCL_ENST00000403295.3_Nonsense_Mutation_p.Q180*	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	180					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						GAATTTACCTGAGGTGTCCAG	0.368000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				3	39					0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33519778	33519778	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:33519778G>C	ENST00000216951.2	-	10	1091	c.993C>G	c.(991-993)ctC>ctG	p.L331L	GSS_ENST00000451957.2_Silent_p.L220L|GSS_ENST00000541098.1_Silent_p.L203L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	331					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	AGGTGGCGCGGAGGCGGGCCA	0.632000													28	60					0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153648455	153648455	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:153648455G>A	ENST00000369776.4	+	5	546	c.461G>A	c.(460-462)aGa>aAa	p.R154K	TAZ_ENST00000475699.1_Intron|TAZ_ENST00000351413.4_Intron|TAZ_ENST00000369790.4_Intron|TAZ_ENST00000299328.5_Intron|TAZ_ENST00000350743.4_Intron|TAZ_ENST00000498029.1_Intron			Q16635	TAZ_HUMAN	tafazzin	215	Hydrophilic.				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					GACGGGGACAGAGAGATGGCA	0.657000													123	27					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50432645	50432645	+	Missense_Mutation	SNP	G	G	A	rs112433088	byFrequency	TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr18:50432645G>A	ENST00000442544.2	+	3	1260	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	DCC_ENST00000412726.1_Missense_Mutation_p.R63Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	215	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R215Q(1)		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)		TGCTCAGCTCGAAATCCAGCC	0.483000													14	19					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216232737	216232737	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:216232737C>G	ENST00000357009.2	-	40	6360	c.6095G>C	c.(6094-6096)tGa>tCa	p.*2032S	FN1_ENST00000336916.4_Missense_Mutation_p.L2167F|FN1_ENST00000359671.1_Missense_Mutation_p.L2198F|FN1_ENST00000432072.2_Missense_Mutation_p.L2079F|FN1_ENST00000346544.3_Intron|FN1_ENST00000421182.1_Missense_Mutation_p.L2052F|FN1_ENST00000446046.1_Missense_Mutation_p.L2142F|FN1_ENST00000354785.4_Missense_Mutation_p.L2289F|FN1_ENST00000356005.4_Missense_Mutation_p.L2108F|FN1_ENST00000323926.6_Missense_Mutation_p.L2258F|FN1_ENST00000443816.1_Missense_Mutation_p.L2077F|FN1_ENST00000357867.4_Missense_Mutation_p.L1988F|FN1_ENST00000345488.5_Missense_Mutation_p.L1996F			P02751	FINC_HUMAN	fibronectin 1	0	Connecting strand 3 (CS-3) (V region).				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGGTTGGTTCAAGCCTTCGT	0.398000													15	15					0	0	1	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111636059	111636059	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:111636059C>T	ENST00000527614.1	-	2	229	c.164G>A	c.(163-165)gGa>gAa	p.G55E	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.G55E|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.G55E|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.G55E	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	55							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CCTTTCTACTCCAAGTGCTAG	0.373000													38	84					0	0	1	0	0
BBS2	583	broad.mit.edu	37	16	56532403	56532403	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:56532403G>C	ENST00000245157.5	-	13	2025	c.1605C>G	c.(1603-1605)ttC>ttG	p.F535L	BBS2_ENST00000568104.1_Missense_Mutation_p.F535L	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	535					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GTAAAGATGTGAAACACACTT	0.363000									Bardet-Biedl syndrome				21	47					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59115249	59115249	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:59115249G>C	ENST00000589222.1	+	18	1830		c.e18-1		BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000390652.5_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000588874.1_Splice_Site|BCAS3_ENST00000585744.1_Splice_Site|BCAS3_ENST00000588462.1_Splice_Site|RP11-264B14.1_ENST00000588604.1_RNA			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3							nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCTGTTTGTAGATCAGTCCAA	0.438000													57	65					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134154561	134154561	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:134154561G>C	ENST00000452510.2	+	21	3002	c.2844G>C	c.(2842-2844)tgG>tgC	p.W948C	DDX46_ENST00000354283.4_Missense_Mutation_p.W947C	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	947					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGCTAGGTGGAAAGTTACCT	0.428000													14	19					0	0	1	0	0
GNPNAT1	64841	broad.mit.edu	37	14	53251366	53251366	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr14:53251366C>T	ENST00000216410.3	-	2	190	c.3G>A	c.(1-3)atG>atA	p.M1I	GNPNAT1_ENST00000554230.1_Intron	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	1					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					CATCAGGTTTCATTTTTCTAG	0.313000													21	16					0	0	1	0	0
C10orf88	80007	broad.mit.edu	37	10	124697643	124697643	+	Silent	SNP	C	C	T	rs145904265	byFrequency	TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:124697643C>T	ENST00000481909.1	-	5	905	c.681G>A	c.(679-681)tcG>tcA	p.S227S	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	227										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TGCCCAACACCGACTGAAGCT	0.368000													36	33					0	0	1	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89986990	89986990	+	RNA	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:89986990G>T	ENST00000491977.1	+	0	301																											CAGTGGCAGCGGGTCAGGGAC	0.517000													16	48					1.55469e-16	1.70386e-16	1	1	0
SLC20A2	6575	broad.mit.edu	37	8	42294608	42294608	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:42294608C>T	ENST00000342228.3	-	8	1791	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	SLC20A2_ENST00000520179.1_Silent_p.E474E|SLC20A2_ENST00000520262.1_Silent_p.E474E	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	474					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCTCCTCCTTCTCCTCCTCTG	0.647000													12	13					0	0	1	0	0
CD82	3732	broad.mit.edu	37	11	44636880	44636880	+	Missense_Mutation	SNP	G	G	T	rs117157354	by1000genomes	TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:44636880G>T	ENST00000227155.4	+	7	643	c.395G>T	c.(394-396)cGc>cTc	p.R132L	CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Missense_Mutation_p.R107L	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	132						integral to plasma membrane	protein binding			large_intestine(1)|ovary(1)	2						AACAGCAGTCGCGAGGACAGC	0.617000													5	25					1	1	1	1	0
ANO6	196527	broad.mit.edu	37	12	45742380	45742380	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:45742380C>T	ENST00000320560.8	+	6	915	c.713C>T	c.(712-714)tCt>tTt	p.S238F	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.S238F|ANO6_ENST00000441606.2_Missense_Mutation_p.S220F|ANO6_ENST00000425752.2_Missense_Mutation_p.S238F|ANO6_ENST00000423947.3_Missense_Mutation_p.S259F	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	238					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTGTAAACTCTGGGATCTAC	0.383000													26	38					0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36960872	36960872	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr22:36960872C>T	ENST00000300105.6	-	4	1479	c.498G>A	c.(496-498)aaG>aaA	p.K166K		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	166					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGGAGTCGCTCTTGGAGGGGT	0.572000													73	73					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154228194	154228194	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:154228194C>A	ENST00000428931.1	+	18	2287	c.2120C>A	c.(2119-2121)tCa>tAa	p.S707*	UBAP2L_ENST00000343815.6_Nonsense_Mutation_p.S707*|UBAP2L_ENST00000361546.2_Nonsense_Mutation_p.S707*|UBAP2L_ENST00000271877.7_Nonsense_Mutation_p.S718*	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	707					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTTCATCATCAACATCTTCT	0.453000													93	226					1.10825e-40	1.24832e-40	1	1	0
LOC100505782	100505782	broad.mit.edu	37	17	39564974	39564974	+	RNA	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:39564974C>G	ENST00000432258.1	+	0	388				AC003958.2_ENST00000430006.1_RNA																							GTGAGGTTGTCTAGCACCCTG	0.587000													6	16					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205132857	205132857	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:205132857G>A	ENST00000367162.3	-	4	1581	c.1551C>T	c.(1549-1551)ctC>ctT	p.L517L	DSTYK_ENST00000367161.3_Silent_p.L517L|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	517						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CTACCTGTTTGAGATAATTAC	0.423000													3	11					0	0	1	0	0
GSDMD	79792	broad.mit.edu	37	8	144643973	144643973	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:144643973G>T	ENST00000526406.1	+	10	1681	c.798G>T	c.(796-798)atG>atT	p.M266I	GSDMD_ENST00000262580.4_Missense_Mutation_p.M266I|GSDMD_ENST00000533063.1_Missense_Mutation_p.M314I	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	266										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TCTCCATGATGAGGTGCCTCC	0.682000													8	7					0.0809354	0.0815386	1	1	0
ATN1	1822	broad.mit.edu	37	12	7045116	7045116	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:7045116C>G	ENST00000356654.4	+	5	923	c.686C>G	c.(685-687)tCt>tGt	p.S229C	ATN1_ENST00000396684.2_Missense_Mutation_p.S229C	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	229					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GGAGTTTTGTCTGGACCCCCA	0.642000													8	11					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38349057	38349057	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:38349057G>A	ENST00000273173.4	+	3	712	c.621G>A	c.(619-621)aaG>aaA	p.K207K	SLC22A14_ENST00000448498.1_Splice_Site_p.K207K	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	207						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		ACACCTGTAGGATGGGCCGCT	0.602000													24	41					0	0	1	0	0
IFFO1	25900	broad.mit.edu	37	12	6664905	6664905	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:6664905C>G	ENST00000336604.4	-	1	332	c.291G>C	c.(289-291)cgG>cgC	p.R97R	IFFO1_ENST00000356896.4_Silent_p.R97R|IFFO1_ENST00000396840.2_Silent_p.R97R	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	97						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						ACAGCCGGTTCCGGCGCTCCA	0.657000													12	27					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151827516	151827516	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:151827516G>C	ENST00000535741.1	-	12	2008	c.1535C>G	c.(1534-1536)tCa>tGa	p.S512*	LRBA_ENST00000507224.1_Nonsense_Mutation_p.S512*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.S512*|LRBA_ENST00000357115.3_Nonsense_Mutation_p.S512*			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	512						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CATAGCAATTGAGTTCTTCAA	0.308000													29	82					0	0	1	0	0
FAM217B	63939	broad.mit.edu	37	20	58519019	58519019	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:58519019G>A	ENST00000358293.3	+	5	436	c.21G>A	c.(19-21)tgG>tgA	p.W7*	FAM217B_ENST00000360816.3_Nonsense_Mutation_p.W7*|FAM217B_ENST00000469084.1_Intron	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	7																	GCCCATCTTGGAATAAAGTGC	0.398000													13	27					0	0	1	0	0
UTP11L	51118	broad.mit.edu	37	1	38489280	38489280	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:38489280C>T	ENST00000373014.4	+	8	803	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	UTP11L_ENST00000537711.1_3'UTR|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	248					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTATAAATTTCAGAGTCGTCG	0.353000													17	64					0	0	1	0	0
CCNH	902	broad.mit.edu	37	5	86690915	86690915	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:86690915C>T	ENST00000508855.1	-	7	709	c.657G>A	c.(655-657)aaG>aaA	p.K219K	CCNH_ENST00000256897.4_Silent_p.K293K|CCNH_ENST00000504878.1_Silent_p.K219K			P51946	CCNH_HUMAN	cyclin H	293					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		AGCCTTTCCTCTTCTTCCTAT	0.323000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					58	57					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49426069	49426069	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:49426069G>A	ENST00000301067.7	-	39	12418	c.12419C>T	c.(12418-12420)tCc>tTc	p.S4140F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATCCCCTAAGGAAACAGAGGG	0.597000													8	26					0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122254086	122254086	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:122254086C>T	ENST00000394427.2	-	4	1098	c.687G>A	c.(685-687)gtG>gtA	p.V229V	QRFPR_ENST00000334383.5_Intron	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	229				VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488).		plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GAATAAGCATCACCATAAGAG	0.433000													12	29					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117230420	117230420	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:117230420G>C	ENST00000003084.6	+	13	1825	c.1693G>C	c.(1693-1695)Gat>Cat	p.D565H	CFTR_ENST00000454343.1_Missense_Mutation_p.D504H	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	565	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.D565Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGTATACAAAGATGCTGATTT	0.294000									Cystic Fibrosis				19	59					0	0	1	0	0
NPEPPS	9520	broad.mit.edu	37	17	45695788	45695788	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:45695788G>A	ENST00000322157.4	+	20	2605	c.2368G>A	c.(2368-2370)Gac>Aac	p.D790N	RP11-580I16.2_ENST00000582066.1_RNA|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D786N|NPEPPS_ENST00000544660.1_Missense_Mutation_p.D710N	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	790					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TCTTTTGCCTGACCTGATTCA	0.393000													11	30					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201184249	201184249	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:201184249G>A	ENST00000335211.4	+	14	9092	c.8962G>A	c.(8962-8964)Gac>Aac	p.D2988N	IGFN1_ENST00000451870.2_Missense_Mutation_p.D531N|IGFN1_ENST00000295591.8_Missense_Mutation_p.D148N	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGTAGCTGGTGACCAGCAGAG	0.597000													8	21					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40392509	40392509	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:40392509G>C	ENST00000221347.6	-	16	8002	c.7995C>G	c.(7993-7995)ctC>ctG	p.L2665L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2665	VWFD 6.					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)			TGGGGCTGGAGAGGAGCCCAC	0.622000													6	30					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2890777	2890777	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr18:2890777G>A	ENST00000254528.3	+	4	811	c.652G>A	c.(652-654)Gat>Aat	p.D218N		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	218					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TGCCACTCAGGATGATGCCAG	0.547000													22	57					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122831943	122831943	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:122831943C>T	ENST00000358808.2	-	9	1606	c.1452G>A	c.(1450-1452)caG>caA	p.Q484Q	CLIP1_ENST00000540338.1_Silent_p.Q495Q|CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000302528.7_Silent_p.Q484Q|CLIP1_ENST00000537178.1_Intron|CLIP1_ENST00000545889.1_Silent_p.Q185Q	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	495					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTAACTCCCTCTGGAGTTTGT	0.453000													39	95					0	0	1	0	0
CAPZB	832	broad.mit.edu	37	1	19670890	19670890	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:19670890G>C	ENST00000401084.2	-	8	826	c.693C>G	c.(691-693)atC>atG	p.I231M	CAPZB_ENST00000375144.1_Missense_Mutation_p.I219M|CAPZB_ENST00000264202.6_Missense_Mutation_p.I231M|CAPZB_ENST00000375142.1_Missense_Mutation_p.I231M|CAPZB_ENST00000264203.3_Intron|CAPZB_ENST00000433834.1_Missense_Mutation_p.I260M	NM_001282162.1|NM_004930.3	NP_001269091.1|NP_004921.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	231					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TTCCAAAGTAGATCTCGTTCA	0.502000											OREG0013171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	40					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53432030	53432030	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:53432030G>C	ENST00000322213.4	-	13	2237	c.2110C>G	c.(2110-2112)Cag>Gag	p.Q704E	SMC1A_ENST00000375340.6_Missense_Mutation_p.Q470E	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	704					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CCATGGGCCTGAGACTGCACC	0.562000													7	3					0	0	1	0	0
TNFSF13	8741	broad.mit.edu	37	17	7462370	7462370	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:7462370C>G	ENST00000349228.4	+	1	578	c.14C>G	c.(13-15)tCt>tGt	p.S5C	TNFSF13_ENST00000483039.1_Intron|TNFSF13_ENST00000396542.1_Intron|TNFSF13_ENST00000396545.4_Missense_Mutation_p.S5C|TNFSF12_ENST00000557233.1_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF13_ENST00000380535.4_Missense_Mutation_p.S5C|TNFSF13_ENST00000338784.4_Missense_Mutation_p.S5C	NM_172087.2	NP_742084.1			tumor necrosis factor (ligand) superfamily, member 13											large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				CCAGCCTCATCTCCTTTCTTG	0.632000													23	29					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116631833	116631833	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:116631833C>A	ENST00000395715.3	-	3	1069	c.492G>T	c.(490-492)aaG>aaT	p.K164N	TRPS1_ENST00000519076.1_Missense_Mutation_p.K105N|TRPS1_ENST00000520276.1_Missense_Mutation_p.K155N|TRPS1_ENST00000519674.1_Missense_Mutation_p.K151N|TRPS1_ENST00000220888.5_Missense_Mutation_p.K151N	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	151					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCTGATCTTCCTTTGTCTCCA	0.537000									Langer-Giedion syndrome				29	55					2.14196e-07	2.24435e-07	1	1	0
MYOF	26509	broad.mit.edu	37	10	95116498	95116498	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:95116498C>G	ENST00000371501.4	-	30	3350	c.3228G>C	c.(3226-3228)tgG>tgC	p.W1076C	MYOF_ENST00000359263.4_Missense_Mutation_p.W1076C|MYOF_ENST00000358334.5_Missense_Mutation_p.W1063C|MYOF_ENST00000371502.4_Missense_Mutation_p.W1076C			Q9NZM1	MYOF_HUMAN	myoferlin	1076	Poly-Arg.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTTTCTCCTCCAGCGTCTGC	0.468000													23	27					0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582010	180582010	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:180582010C>T	ENST00000328275.1	+	1	68	c.68C>T	c.(67-69)aCt>aTt	p.T23I		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCACAGTACTGCTGACCTT	0.532000													45	43					0	0	1	0	0
SPC24	147841	broad.mit.edu	37	19	11266438	11266438	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:11266438G>A	ENST00000592540.1	-	1	46	c.15C>T	c.(13-15)cgC>cgT	p.R5R		NM_182513.2	NP_872319.1	Q8NBT2	SPC24_HUMAN	SPC24, NDC80 kinetochore complex component	5	Interaction with the N-terminus of SPBC25.|Interaction with the NDC80-CDCA1 subcomplex.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						CCTCTATGTCGCGGAAGGCGG	0.662000													4	13					0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1467115	1467115	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:1467115G>A	ENST00000308219.9	+	12	1590	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	BRSK2_ENST00000382179.1_Missense_Mutation_p.E448K|BRSK2_ENST00000531197.1_Missense_Mutation_p.E402K|BRSK2_ENST00000544817.1_Missense_Mutation_p.E97K|BRSK2_ENST00000528841.1_Missense_Mutation_p.E402K|BRSK2_ENST00000528710.1_Missense_Mutation_p.E342K|BRSK2_ENST00000308230.5_Missense_Mutation_p.E402K|BRSK2_ENST00000526678.1_Missense_Mutation_p.E402K	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	402					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GCGGGCCATTGAGATGGCCCA	0.716000													18	29					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59283823	59283823	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:59283823G>A	ENST00000320743.3	-	5	900	c.614C>T	c.(613-615)tCa>tTa	p.S205L	LRIG3_ENST00000379141.4_Missense_Mutation_p.S145L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	205						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGGGATAGCTGAGATTCGGTT	0.443000			T	ROS1	NSCLC								73	110					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103086497	103086497	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:103086497G>A	ENST00000375735.2	+	55	8886	c.8742G>A	c.(8740-8742)ctG>ctA	p.L2914L	DYNC2H1_ENST00000398093.3_Silent_p.L2914L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2914	Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGATGAACTGAACAGAAAAG	0.353000													6	11					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120194837	120194837	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:120194837C>G	ENST00000450251.1	+	13	2769	c.2225C>G	c.(2224-2226)tCc>tGc	p.S742C	USP53_ENST00000274030.6_Missense_Mutation_p.S742C			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	742					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GACTGTACCTCCCTTCAGAGC	0.318000													11	23					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671192	25671192	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr13:25671192G>C	ENST00000281589.3	+	1	893	c.856G>C	c.(856-858)Gat>Cat	p.D286H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	286					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GATGAAGCAAGATAGGATCAC	0.408000													52	126					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97279241	97279241	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:97279241A>T	ENST00000599854.1	-	6	985	c.518T>A	c.(517-519)cTt>cAt	p.L173H	KANSL3_ENST00000441706.2_Missense_Mutation_p.L173H|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000431828.1_Missense_Mutation_p.L260H|KANSL3_ENST00000440133.1_Missense_Mutation_p.L54H	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	260																	GTTATGAGAAAGCACACCCAC	0.493000													15	101					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120286648	120286648	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:120286648C>T	ENST00000369407.3	+	11	2992	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	PHGDH_ENST00000369409.4_Silent_p.F529F|PHGDH_ENST00000482968.1_3'UTR			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	529					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CTGAAGCCTTCCAGTTCCACT	0.542000											OREG0013728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	59					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124210187	124210187	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:124210187G>A	ENST00000360013.3	+	31	4726	c.4599G>A	c.(4597-4599)gtG>gtA	p.V1533V	KALRN_ENST00000460856.1_Silent_p.V1524V|KALRN_ENST00000240874.3_Silent_p.V1533V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1533	PH 1.				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|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor 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						AGCTGGGTGTGACCGAGCACG	0.567000													14	26					0	0	1	0	0
ODC1	4953	broad.mit.edu	37	2	10581667	10581667	+	Silent	SNP	C	C	A	rs144020639		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:10581667C>A	ENST00000234111.4	-	11	1719	c.1209G>T	c.(1207-1209)ccG>ccT	p.P403P	ODC1_ENST00000405333.1_Silent_p.P403P	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	403					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	AGTAGATCGTCGGCCTCTGGA	0.507000													11	32					2.27111e-07	2.37661e-07	1	1	0
FOXP2	93986	broad.mit.edu	37	7	114174736	114174736	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:114174736G>T	ENST00000408937.3	+	3	607	c.233G>T	c.(232-234)aGc>aTc	p.S78I	FOXP2_ENST00000393498.2_Missense_Mutation_p.S78I|FOXP2_ENST00000350908.4_Missense_Mutation_p.S78I|FOXP2_ENST00000360232.4_Missense_Mutation_p.S78I|FOXP2_ENST00000459666.1_3'UTR|FOXP2_ENST00000378237.3_Missense_Mutation_p.S78I|FOXP2_ENST00000393489.3_5'UTR|FOXP2_ENST00000393500.3_5'UTR|FOXP2_ENST00000390668.3_Missense_Mutation_p.S77I|FOXP2_ENST00000403559.4_Missense_Mutation_p.S78I|FOXP2_ENST00000393494.2_Missense_Mutation_p.S78I	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	78	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TCTCCTAAGAGCAGTGATAAA	0.388000													16	58					9.16793e-09	9.7192e-09	1	1	0
CHI3L2	1117	broad.mit.edu	37	1	111784863	111784863	+	Missense_Mutation	SNP	G	G	C	rs141935306	by1000genomes	TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:111784863G>C	ENST00000445067.2	+	12	1821	c.1050G>C	c.(1048-1050)aaG>aaC	p.K350N	CHI3L2_ENST00000369744.2_Missense_Mutation_p.K340N|CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000466741.1_Missense_Mutation_p.K271N|CHI3L2_ENST00000524472.1_Missense_Mutation_p.K271N|CHI3L2_ENST00000369748.4_Missense_Mutation_p.K350N			Q15782	CH3L2_HUMAN	chitinase 3-like 2	350					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		AGTTCTTAAAGAATTTAAACC	0.483000													45	52					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671749	45671749	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:45671749G>A	ENST00000308064.2	-	4	1395	c.725C>T	c.(724-726)tCg>tTg	p.S242L		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	242					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CTCGCTGCGCGAAGCCAGAAT	0.662000													27	36					0	0	1	0	0
TMEM65	157378	broad.mit.edu	37	8	125339646	125339646	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:125339646C>T	ENST00000297632.6	-	3	900	c.366G>A	c.(364-366)gcG>gcA	p.A122A		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	122						integral to membrane				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGAAAGGTATCGCATTGTGGA	0.289000													5	21					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050429	42050429	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:42050429C>T	ENST00000372584.1	-	3	1054	c.40G>A	c.(40-42)Gag>Aag	p.E14K	HIVEP3_ENST00000247584.5_Missense_Mutation_p.E14K|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E14K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E14K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	14					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)				GGACTTCCCTCAGCCTTCTTG	0.547000													60	74					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23391439	23391439	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:23391439C>G	ENST00000343070.2	+	12	1667	c.1491C>G	c.(1489-1491)atC>atG	p.I497M	SCNN1B_ENST00000568085.1_Missense_Mutation_p.I461M|SCNN1B_ENST00000568923.1_Missense_Mutation_p.I470M|SCNN1B_ENST00000307331.5_Missense_Mutation_p.I542M	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	497					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGCTCAACATCTACTTCCAAG	0.517000													27	56					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48698252	48698252	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:48698252C>A	ENST00000544264.1	-	1	2096	c.1816G>T	c.(1816-1818)Gca>Tca	p.A606S	CELSR3_ENST00000164024.4_Missense_Mutation_p.A606S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	606	Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCAGAGGTGCCACCACCTGG	0.602000													11	26					0.000673444	0.00068873	1	1	0
KIAA1211L	343990	broad.mit.edu	37	2	99412612	99412612	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:99412612C>G	ENST00000397899.2	-	9	3051	c.2720G>C	c.(2719-2721)aGa>aCa	p.R907T		NM_207362.2	NP_997245.2			KIAA1211-like																		TGAGATTCCTCTTTGCAGCCC	0.478000													71	123					0	0	1	0	0
TPD52	7163	broad.mit.edu	37	8	80963849	80963849	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:80963849G>C	ENST00000519303.2	-	0	459				TPD52_ENST00000517427.1_Missense_Mutation_p.S140C|TPD52_ENST00000537855.1_Missense_Mutation_p.S140C|TPD52_ENST00000379096.5_Missense_Mutation_p.S100C|TPD52_ENST00000448733.2_Missense_Mutation_p.S140C|TPD52_ENST00000379097.3_Missense_Mutation_p.S140C|TPD52_ENST00000520527.1_Missense_Mutation_p.S140C|TPD52_ENST00000518937.1_Missense_Mutation_p.S100C			P55327	TPD52_HUMAN	tumor protein D52						anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			TAAGGTTTCAGATGTCTTCTT	0.403000													20	59					0	0	1	0	0
PPM1G	5496	broad.mit.edu	37	2	27604601	27604601	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:27604601G>A	ENST00000344034.4	-	10	1770	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	PPM1G_ENST00000350803.4_Silent_p.I502I	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	502					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TGAAGCAAATGATGATGCAGG	0.542000													24	101					0	0	1	0	0
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413000													5	6					0	0	1	0	0
NIPSNAP3B	55335	broad.mit.edu	37	9	107535280	107535280	+	Missense_Mutation	SNP	C	C	T	rs150554330		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:107535280C>T	ENST00000374762.3	+	6	741	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	NIPSNAP3B_ENST00000461177.1_3'UTR	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	224										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TTTTCCAGTTCGGGAAAGTGT	0.358000													32	14					0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3005850	3005850	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:3005850G>A	ENST00000262953.6	-	16	1879	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	TLE2_ENST00000590536.1_Silent_p.I540I|TLE2_ENST00000591529.1_Silent_p.I553I|TLE2_ENST00000447365.2_Silent_p.I206I|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000443826.3_Silent_p.I417I|TLE2_ENST00000455444.2_Silent_p.I417I|TLE2_ENST00000426948.2_Silent_p.I553I	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	539					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GCTCGGCCTTGATACGGGGGG	0.647000													18	33					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91715548	91715548	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:91715548G>A	ENST00000359028.2	+	37	9268	c.9043G>A	c.(9043-9045)Gat>Aat	p.D3015N	AKAP9_ENST00000358100.2_Missense_Mutation_p.D2961N|AKAP9_ENST00000356239.3_Missense_Mutation_p.D3011N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3015					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTAGGTTTATGATAGTTCTCA	0.323000			T	BRAF	papillary thyroid								21	62					0	0	1	0	0
KPNA4	3840	broad.mit.edu	37	3	160245745	160245745	+	Silent	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:160245745G>T	ENST00000334256.4	-	8	857	c.552C>A	c.(550-552)atC>atA	p.I184I		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	184	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACAAACCTATGATATTTCCCA	0.353000													41	61					8.01111e-26	8.94905e-26	1	1	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	35					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306396	133306396	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:133306396C>T	ENST00000539605.1	-	10	8850	c.2166G>A	c.(2164-2166)ggG>ggA	p.G722G	ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542657.1_Silent_p.G139G|ANKLE2_ENST00000542282.1_Silent_p.G139G|ANKLE2_ENST00000357997.5_Silent_p.G784G			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	784						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGTGGCCATTCCCGAGTTGGT	0.493000													19	54					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57732784	57732784	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:57732784G>C	ENST00000360716.3	+	4	447	c.226G>C	c.(226-228)Gac>Cac	p.D76H	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Missense_Mutation_p.D76H|CCDC135_ENST00000394337.4_Missense_Mutation_p.D76H			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	76						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGACACTATTGACATCTCCAA	0.552000													4	158					0	0	1	0	0
TMEM181	57583	broad.mit.edu	37	6	159001988	159001988	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:159001988G>C	ENST00000367090.3	+	3	551	c.540G>C	c.(538-540)caG>caC	p.Q180H		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	180					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		AAGTGATCCAGACTTCTGCGG	0.378000													54	101					0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78318418	78318418	+	Splice_Site	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr13:78318418G>T	ENST00000466548.1	+	4	727	c.701G>T	c.(700-702)gGt>gTt	p.G234V	SLAIN1_ENST00000314070.5_5'UTR|SLAIN1_ENST00000488699.1_Splice_Site_p.G92V|SLAIN1_ENST00000267219.8_Splice_Site_p.G15V|SLAIN1_ENST00000358679.3_5'UTR|SLAIN1_ENST00000418532.1_Splice_Site_p.G15V|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000351546.3_5'UTR	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	234										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TGTGTTTCAGGTTACACTTCC	0.413000													16	32					3.45872e-05	3.57327e-05	1	1	0
MYH15	22989	broad.mit.edu	37	3	108107819	108107819	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:108107819G>C	ENST00000273353.3	-	39	5649	c.5593C>G	c.(5593-5595)Cag>Gag	p.Q1865E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1865						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGGAGTACCTGATAGGTCAGC	0.552000													16	44					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6705132	6705132	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:6705132C>T	ENST00000377577.5	-	9	1072	c.949G>A	c.(949-951)Gac>Aac	p.D317N	DNAJC11_ENST00000294401.7_Missense_Mutation_p.D317N|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000542246.1_Missense_Mutation_p.D279N|DNAJC11_ENST00000377573.5_Missense_Mutation_p.D227N	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	317					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|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;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GTCTGATCGTCATCTTGGAAT	0.527000													13	152					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736116	4736116	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:4736116G>C	ENST00000545990.2	-	5	2476	c.1952C>G	c.(1951-1953)tCt>tGt	p.S651C	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.S651C	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	651					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGTCAGCCCAGAAAGGGCACC	0.512000													3	22					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102489186	102489186	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr14:102489186G>A	ENST00000360184.4	+	43	8770	c.8606G>A	c.(8605-8607)cGa>cAa	p.R2869Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2869					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCAATGAGCCGACCCATCTTG	0.468000													18	29					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77973234	77973234	+	Silent	SNP	T	T	G	rs146095814		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:77973234T>G	ENST00000354212.4	-	9	1522	c.1269A>C	c.(1267-1269)acA>acC	p.T423T	MAGI2_ENST00000522391.1_Silent_p.T423T|MAGI2_ENST00000536571.1_Silent_p.T255T|MAGI2_ENST00000535697.1_Silent_p.T260T|MAGI2_ENST00000419488.1_Silent_p.T423T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	423						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGCTGAGGAATGTTCCCTTCA	0.433000													16	31					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162902102	162902102	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:162902102G>C	ENST00000360534.3	-	5	866	c.306C>G	c.(304-306)atC>atG	p.I102M		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	102					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|T cell activation|T cell costimulation	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)	AATAATCATTGATAGAATGTC	0.333000													26	47					0	0	1	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416610	57416610	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:57416610C>G	ENST00000565912.1	+	2	3452	c.746C>G	c.(745-747)tCt>tGt	p.S249C	CX3CL1_ENST00000006053.6_Missense_Mutation_p.S287C|CX3CL1_ENST00000563383.1_Missense_Mutation_p.S293C			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	287	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCCACGTCTCTGTGGTCCCT	0.657000													17	33					0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27373306	27373306	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:27373306G>T	ENST00000521400.1	+	7	1237	c.807G>T	c.(805-807)gaG>gaT	p.E269D	EPHX2_ENST00000521780.1_Missense_Mutation_p.E203D|EPHX2_ENST00000517536.1_Missense_Mutation_p.E86D|EPHX2_ENST00000518379.1_Intron|EPHX2_ENST00000380476.3_Missense_Mutation_p.E216D	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	269	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GATTTCCCGAGAGTTGGTATT	0.597000											OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	26					0.115264	0.115692	1	1	0
ANKRD12	23253	broad.mit.edu	37	18	9255315	9255315	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr18:9255315G>C	ENST00000262126.4	+	9	2290	c.2050G>C	c.(2050-2052)Gaa>Caa	p.E684Q	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E661Q|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E661Q	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						tagtgccaaagaactgcagag	0.289000													5	59					0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40529625	40529625	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:40529625G>A	ENST00000447116.2	+	6	2051	c.1744G>A	c.(1744-1746)Gaa>Aaa	p.E582K	ZNF619_ENST00000432264.2_Missense_Mutation_p.E542K|ZNF619_ENST00000521353.1_Missense_Mutation_p.E582K|ZNF619_ENST00000429348.2_Missense_Mutation_p.E542K|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Missense_Mutation_p.E498K|ZNF619_ENST00000314686.5_Missense_Mutation_p.E526K|ZNF619_ENST00000522736.1_Missense_Mutation_p.E533K	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	582					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCCCTCATCTGAAAAGGCCAA	0.517000													6	59					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43044974	43044974	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:43044974C>G	ENST00000267890.6	-	14	2578	c.2470G>C	c.(2470-2472)Gat>Cat	p.D824H		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	824					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTTGTCACATCAAGAGGTTCA	0.393000													25	44					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111430914	111430914	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:111430914C>G	ENST00000265162.5	+	5	1487	c.1145C>G	c.(1144-1146)tCa>tGa	p.S382*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	382					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCAGCCTCATCAAACCAACAG	0.463000													12	47					0	0	1	0	0
TIMP2	7077	broad.mit.edu	37	17	76867053	76867053	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:76867053G>C	ENST00000262768.7	-	3	565	c.267C>G	c.(265-267)atC>atG	p.I89M	TIMP2_ENST00000585421.1_Missense_Mutation_p.I12M|TIMP2_ENST00000536189.2_Missense_Mutation_p.I12M|TIMP2_ENST00000586057.1_Missense_Mutation_p.I12M	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	89	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			GGGCCGTGTAGATAAACTCTA	0.537000													22	64					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14724254	14724254	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:14724254C>T	ENST00000253697.3	+	3	486	c.34C>T	c.(34-36)Cag>Tag	p.Q12*	C3orf20_ENST00000412910.1_Intron|C3orf20_ENST00000435614.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	12						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGAATTATATCAGCAATACAC	0.468000													32	61					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77249547	77249547	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:77249547G>A	ENST00000376896.3	+	3	706	c.94G>A	c.(94-96)Gga>Aga	p.G32R	RORB_ENST00000396204.2_Splice_Site_p.G43R	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B						eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.G32R(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTCCCTCAAGGGATTCTTTAG	0.408000													12	26					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4938145	4938145	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:4938145C>G	ENST00000345988.2	-	20	2561	c.2472G>C	c.(2470-2472)aaG>aaC	p.K824N	PPL_ENST00000590782.2_Missense_Mutation_p.K822N	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	824					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			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						GCCTGGCTCTCTTGCTCACGT	0.557000													24	65					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49728662	49728662	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:49728662G>C	ENST00000327697.6	+	2	208	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	RNF123_ENST00000432042.1_Intron	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	22						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTCAGATGCTGAGAAATCCAG	0.587000													15	28					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49632242	49632242	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:49632242C>T	ENST00000334186.4	+	4	829	c.480C>T	c.(478-480)ttC>ttT	p.F160F	PPFIA3_ENST00000602351.1_Silent_p.F160F	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	160						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AGTCTCTCTTCGAGCACCACA	0.557000													10	30					0	0	1	0	0
DBF4	10926	broad.mit.edu	37	7	87537419	87537419	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:87537419G>C	ENST00000265728.1	+	12	2470	c.1966G>C	c.(1966-1968)Gat>Cat	p.D656H		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	656					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GGAAAATTCAGATAATCTGTT	0.333000													10	39					0	0	1	0	0
TSSC1	7260	broad.mit.edu	37	2	3197931	3197931	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:3197931G>C	ENST00000398659.4	-	8	881	c.741C>G	c.(739-741)atC>atG	p.I247M	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.I220M			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	220							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CTATGCAGTAGATCTGGCTGA	0.522000													4	86					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32095951	32095951	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:32095951C>A	ENST00000375201.4	-	1	79	c.34G>T	c.(34-36)Gac>Tac	p.D12Y	ATF6B_ENST00000375203.3_Missense_Mutation_p.D12Y|ATF6B_ENST00000468502.1_5'UTR			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	12	Transcription activation.				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CGCGTCGGGTCAGCAATCTCG	0.632000													12	15					3.27435e-08	3.45768e-08	1	1	0
LAMB3	3914	broad.mit.edu	37	1	209799263	209799263	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:209799263C>T	ENST00000391911.1	-	13	2095	c.1706G>A	c.(1705-1707)cGa>cAa	p.R569Q	LAMB3_ENST00000356082.4_Missense_Mutation_p.R569Q|LAMB3_ENST00000367030.3_Missense_Mutation_p.R569Q	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	569	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACAGTAGCCTCGCTGGCACTG	0.662000													5	16					0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33519777	33519777	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:33519777G>A	ENST00000216951.2	-	10	1092	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	GSS_ENST00000451957.2_Missense_Mutation_p.R221C|GSS_ENST00000541098.1_Missense_Mutation_p.R204C	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	332					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	AAGGTGGCGCGGAGGCGGGCC	0.627000													26	60					0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70293069	70293069	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:70293069C>G	ENST00000261772.8	-	14	1949	c.1806G>C	c.(1804-1806)atG>atC	p.M602I	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	602					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TGTGGTTGCTCATGATGGGTC	0.557000													48	44					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012038	29012038	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:29012038C>T	ENST00000377175.1	-	1	979	c.915G>A	c.(913-915)atG>atA	p.M305I		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GGTGAAATCTCATCAGTTTCT	0.353000													6	7					0	0	1	0	0
RPL8	6132	broad.mit.edu	37	8	146016748	146016748	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:146016748G>A	ENST00000262584.3	-	4	645	c.413C>T	c.(412-414)tCc>tTc	p.S138F	RPL8_ENST00000394920.2_Missense_Mutation_p.S138F|RPL8_ENST00000528957.1_Missense_Mutation_p.S138F|RPL8_ENST00000527914.1_Intron|RPL8_ENST00000529163.1_5'UTR	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	138					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		AGGGTTGTGGGAGATAACGGT	0.587000													19	38					0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153648391	153648391	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:153648391G>A	ENST00000299328.5	+	8	893	c.604G>A	c.(604-606)Gag>Aag	p.E202K	TAZ_ENST00000475699.1_Missense_Mutation_p.E175K|TAZ_ENST00000351413.4_Missense_Mutation_p.E188K|TAZ_ENST00000369776.4_Missense_Mutation_p.E133K|TAZ_ENST00000369790.4_Missense_Mutation_p.E158K|TAZ_ENST00000350743.4_Missense_Mutation_p.E172K|TAZ_ENST00000498029.1_3'UTR	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	202					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CCTGATTGCTGAGTGTCATCT	0.632000													134	45					0	0	1	0	0
ARR3	407	broad.mit.edu	37	X	69489237	69489237	+	Translation_Start_Site	SNP	T	T	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:69489237T>C	ENST00000374495.3	+	2	100	c.2T>C	c.(1-3)aTg>aCg	p.M1T	ARR3_ENST00000307959.8_Start_Codon_SNP_p.M1T			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	1					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						ATAGCCAACATGTCCAAGTAA	0.433000													3	22					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79601696	79601696	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:79601696G>C	ENST00000372391.2	-	7	1385	c.1380C>G	c.(1378-1380)ctC>ctG	p.L460L	DLG5_ENST00000372388.2_Silent_p.L460L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	460					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGCTGCTCTTGAGCTTGGACT	0.592000													13	20					0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43227187	43227187	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:43227187G>A	ENST00000332499.2	+	1	2504	c.630G>A	c.(628-630)atG>atA	p.M210I		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	210	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGTTCCTCATGGATGATCACG	0.592000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	54					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1578986	1578986	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:1578986G>A	ENST00000572621.1	-	18	3065	c.2800C>T	c.(2800-2802)Cgc>Tgc	p.R934C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R934C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	934						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGGAACAGGCGGCGCTTGTCG	0.512000													10	137					0	0	1	0	0
RNF7	9616	broad.mit.edu	37	3	141457242	141457242	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:141457242C>G	ENST00000273480.3	+	1	197	c.59C>G	c.(58-60)tCa>tGa	p.S20*	RNF7_ENST00000393000.3_Nonsense_Mutation_p.S20*|RNF7_ENST00000480908.1_Nonsense_Mutation_p.S20*	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN	ring finger protein 7	20					anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						TCCGGGAGCTCAGGCTCCAAG	0.662000													7	8					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11118674	11118674	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:11118674G>A	ENST00000358026.2	+	14	2382	c.2098G>A	c.(2098-2100)Gag>Aag	p.E700K	SMARCA4_ENST00000429416.3_Missense_Mutation_p.E700K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E700K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E700K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E700K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E700K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E700K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E700K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E700K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	700					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGACGTCTCTGAGGTGGACGC	0.602000			"""F, N, Mis"""		NSCLC								6	13					0	0	1	0	0
CXXC4	80319	broad.mit.edu	37	4	105412309	105412309	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:105412309G>A	ENST00000394767.2	-	2	1101	c.651C>T	c.(649-651)ctC>ctT	p.L217L	CXXC4_ENST00000426831.1_Silent_p.L48L|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	48					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		CGCCGCATTTGAGCTTGTTCA	0.552000													68	132					0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228594250	228594250	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:228594250C>T	ENST00000284551.6	-	1	291	c.13G>A	c.(13-15)Gac>Aac	p.D5N	TRIM11_ENST00000366699.3_Missense_Mutation_p.D5N	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	5					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GTGGACAGGTCGGGGGCGGCC	0.716000													16	23					0	0	1	0	0
TFAP2E	339488	broad.mit.edu	37	1	36053974	36053974	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:36053974G>A	ENST00000373235.3	+	4	814	c.606G>A	c.(604-606)ttG>ttA	p.L202L		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	202						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCCTCTCCTTGGCCAAAGACA	0.617000													7	68					0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14958275	14958275	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrY:14958275C>A	ENST00000338981.3	+	40	7531	c.6586C>A	c.(6586-6588)Cag>Aag	p.Q2196K	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	2196					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGAAAAAACACAGCTTCTGAA	0.323000													18	12					1.56452e-12	1.69403e-12	1	1	0
FBXW7	55294	broad.mit.edu	37	4	153247244	153247244	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:153247244C>T	ENST00000281708.4	-	10	2787	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	FBXW7_ENST00000263981.5_Missense_Mutation_p.D440N|FBXW7_ENST00000603548.1_Missense_Mutation_p.D520N|FBXW7_ENST00000603841.1_Missense_Mutation_p.D520N|FBXW7_ENST00000393956.3_Missense_Mutation_p.D344N|FBXW7_ENST00000296555.5_Missense_Mutation_p.D402N	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	520					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.D520N(3)|p.D520Y(2)|p.D440Y(1)|p.?(1)|p.D281Y(1)|p.D440N(1)|p.D281N(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACCATAAAATCATATGCTCCA	0.433000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								32	48					0	0	1	0	0
CRLS1	54675	broad.mit.edu	37	20	5996067	5996067	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:5996067G>C	ENST00000378863.4	+	3	662	c.505G>C	c.(505-507)Gat>Cat	p.D169H	CRLS1_ENST00000452938.1_Missense_Mutation_p.D169H|CRLS1_ENST00000378868.4_Missense_Mutation_p.D70H	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	169					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups			lung(3)|ovary(1)	4						AAGTGCTCTTGATCCACTTGC	0.343000													4	9					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145060242	145060242	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:145060242G>A	ENST00000313028.7	-	2	256	c.162C>T	c.(160-162)ctC>ctT	p.L54L	PARP10_ENST00000525773.1_Silent_p.L66L|PARP10_ENST00000524918.1_Silent_p.L54L|PARP10_ENST00000533665.1_Intron	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	54						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	p.L54L(1)		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)			CTCTGAAGGTGAGGACGCCCC	0.632000													21	43					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43008110	43008110	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:43008110C>T	ENST00000535468.1	-	22	4416	c.4330G>A	c.(4330-4332)Ggg>Agg	p.G1444R	CUL7_ENST00000265348.3_Missense_Mutation_p.G1360R	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1360					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCTGCTGCCCCAGCTTCCTCT	0.592000													12	16					0	0	1	0	0
CDK9	1025	broad.mit.edu	37	9	130550557	130550557	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:130550557C>T	ENST00000373265.2	+	5	848	c.848C>T	c.(847-849)gCa>gTa	p.A283V	CDK9_ENST00000373264.4_Missense_Mutation_p.A166V|CDK9_ENST00000480353.1_3'UTR			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	166	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						CTGAAGCTGGCAGACTTTGGG	0.592000													17	12					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150001347	150001347	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:150001347C>G	ENST00000543571.1	-	5	2804	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.E753Q	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	753	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ATATCTCTCTCAGCCTTAACA	0.368000													29	55					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6666527	6666527	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:6666527C>G	ENST00000541778.1	-	16	2547	c.2059G>C	c.(2059-2061)Gag>Cag	p.E687Q	NOP2_ENST00000382421.3_Missense_Mutation_p.E724Q|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000322166.5_Missense_Mutation_p.E691Q|NOP2_ENST00000399466.2_Missense_Mutation_p.E687Q|NOP2_ENST00000537442.1_Missense_Mutation_p.E691Q|NOP2_ENST00000545200.1_3'UTR			P46087	NOP2_HUMAN	NOP2 nucleolar protein	691					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ACCTTTGGCTCCCTGATCCCT	0.512000													18	68					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67979898	67979898	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:67979898G>A	ENST00000422611.2	-	19	2740	c.2701C>T	c.(2701-2703)Ctg>Ttg	p.L901L	SLC12A4_ENST00000541864.2_Silent_p.L868L|SLC12A4_ENST00000537830.2_Silent_p.L893L|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000316341.3_Silent_p.L899L|SLC12A4_ENST00000576616.1_Silent_p.L899L|SLC12A4_ENST00000572037.1_Silent_p.L851L	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	899					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)	AGATGGTACAGAAAGACAGCC	0.607000													13	32					0	0	1	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416471	57416471	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:57416471C>G	ENST00000565912.1	+	2	3313	c.607C>G	c.(607-609)Ccg>Gcg	p.P203A	CX3CL1_ENST00000006053.6_Missense_Mutation_p.P241A|CX3CL1_ENST00000563383.1_Missense_Mutation_p.P247A			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	241	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGAGAATGCTCCGTCTGAAGG	0.677000													10	39					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182359498	182359498	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:182359498C>G	ENST00000397033.2	+	12	1728	c.1298C>G	c.(1297-1299)tCt>tGt	p.S433C		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	433					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TTTGGACAGTCTATATCAGGA	0.313000													31	46					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373575	126373575	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:126373575G>C	ENST00000394329.3	+	9	11417	c.11404G>C	c.(11404-11406)Gat>Cat	p.D3802H	FAT4_ENST00000335110.5_Missense_Mutation_p.D2100H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3802	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAATCTGTGGATCATGACTC	0.478000													5	36					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73489646	73489646	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:73489646G>C	ENST00000314256.7	+	17	2555	c.2161G>C	c.(2161-2163)Gac>Cac	p.D721H	KIAA0195_ENST00000579208.1_Missense_Mutation_p.D372H|KIAA0195_ENST00000375248.5_Missense_Mutation_p.D731H	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	721					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGACGGAGCTGACATCTACCC	0.607000													33	43					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212248	8212248	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:8212248G>A	ENST00000307637.4	-	2	737	c.534C>T	c.(532-534)ctC>ctT	p.L178L		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	178					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		ATGAGCTGGAGAGACCAAATT	0.423000													32	56					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49721992	49721992	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:49721992C>T	ENST00000449682.2	-	16	2228	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K	AC099668.5_ENST00000563780.1_RNA	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	609	Peptidase S1.			L -> F (in Ref. 2; AAA59872).	proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTTTGGTCTCACCCCAGCCT	0.607000													32	73					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31648779	31648779	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:31648779C>T	ENST00000389082.5	-	2	466	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	DENND5B_ENST00000354285.4_Missense_Mutation_p.E90K|DENND5B_ENST00000545147.1_5'UTR|DENND5B_ENST00000536562.1_Missense_Mutation_p.E103K|DENND5B_ENST00000306833.6_Missense_Mutation_p.E103K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	68	UDENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGGTTCCATTCTATATTCTGA	0.348000													13	12					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128637583	128637583	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:128637583C>G	ENST00000393245.1	-	8	1391	c.1018G>C	c.(1018-1020)Gaa>Caa	p.E340Q	TNPO3_ENST00000471166.1_Missense_Mutation_p.E340Q|TNPO3_ENST00000265388.5_Missense_Mutation_p.E340Q|TNPO3_ENST00000471234.1_Missense_Mutation_p.E340Q|TNPO3_ENST00000482320.1_Missense_Mutation_p.E274Q	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	340					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AATGAAATTTCTACTACCTGT	0.338000													10	26					0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50397559	50397559	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:50397559G>A	ENST00000595948.1	-	7	1219	c.599C>T	c.(598-600)tCg>tTg	p.S200L	IL4I1_ENST00000391826.2_Missense_Mutation_p.S178L|IL4I1_ENST00000341114.3_Missense_Mutation_p.S200L	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	178						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GTCTTCGGGCGAGTGGCCCTT	0.632000													7	15					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887392	25887392	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr10:25887392C>G	ENST00000376351.3	+	11	3196	c.2837C>G	c.(2836-2838)tCa>tGa	p.S946*	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	946						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGAAATCACTCAAATTCTGAT	0.428000													54	91					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13912302	13912302	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:13912302A>C	ENST00000284951.5	-	3	304	c.230T>G	c.(229-231)aTa>aGa	p.I77R	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.I77R			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	77						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTTATTCTTATTTTACGTTG	0.249000													6	18					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128351216	128351216	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:128351216G>A	ENST00000389524.4	+	18	2294	c.2241G>A	c.(2239-2241)ctG>ctA	p.L747L	MYO7B_ENST00000409816.2_Silent_p.L747L|MYO7B_ENST00000428314.1_Silent_p.L747L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	747	IQ 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AAATTTTCCTGAGGGTGAGAC	0.612000													25	26					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22885860	22885860	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:22885860C>T	ENST00000276431.4	-	5	1016	c.732G>A	c.(730-732)ctG>ctA	p.L244L	TNFRSF10B_ENST00000347739.3_Silent_p.L215L|TNFRSF10B_ENST00000542226.1_Silent_p.L64L	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	244					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		AGATGCCTTTCAGGTAAGGAA	0.552000													13	19					0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111353820	111353820	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr13:111353820C>G	ENST00000257347.4	-	3	421	c.358G>C	c.(358-360)Gat>Cat	p.D120H	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	120					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	TCATCTACATCTGTAATACCC	0.363000													34	84					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89939504	89939504	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:89939504G>A	ENST00000389297.4	+	23	3029	c.2778G>A	c.(2776-2778)gtG>gtA	p.V926V	C7orf63_ENST00000497910.1_Silent_p.V908V|C7orf63_ENST00000316089.8_Silent_p.V880V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	926							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TGCAGAGGGTGAAAGCAGTTA	0.398000													19	31					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42028647	42028647	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:42028647G>A	ENST00000219905.7	+	13	4366	c.4185G>A	c.(4183-4185)gtG>gtA	p.V1395V	MGA_ENST00000545763.1_Silent_p.V1395V|MGA_ENST00000566586.1_Silent_p.V1395V|MGA_ENST00000570161.1_Silent_p.V1395V|MGA_ENST00000389936.4_Silent_p.V1395V	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1395						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTTCTCGTGTGAAAATCTCTA	0.468000													9	27					0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145535454	145535454	+	Silent	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:145535454C>A	ENST00000528838.1	+	8	952	c.792C>A	c.(790-792)atC>atA	p.I264I	HSF1_ENST00000400780.4_Silent_p.I199I	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	264	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)			CTGGACCCATCATCTCCGACA	0.667000													24	38					6.21321e-17	6.83706e-17	1	1	0
SMC5	23137	broad.mit.edu	37	9	72913105	72913105	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:72913105G>C	ENST00000361138.5	+	9	1335	c.1277G>C	c.(1276-1278)aGa>aCa	p.R426T		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	426					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GATAAGCGAAGAGAGAGGGAA	0.358000													35	20					0	0	1	0	0
HMOX2	3163	broad.mit.edu	37	16	4559637	4559637	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:4559637G>C	ENST00000570646.1	+	6	1436	c.831G>C	c.(829-831)ctG>ctC	p.L277L	HMOX2_ENST00000398595.3_Silent_p.L277L|HMOX2_ENST00000219700.6_Silent_p.L277L|HMOX2_ENST00000414777.1_Silent_p.L277L|HMOX2_ENST00000406590.2_Silent_p.L277L|HMOX2_ENST00000575120.1_Silent_p.L248L|HMOX2_ENST00000458134.3_Silent_p.L277L	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	277					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	CAGGTGCCCTGGAGGGCAGCA	0.612000													19	72					0	0	1	0	0
CTSF	8722	broad.mit.edu	37	11	66332278	66332278	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:66332278C>T	ENST00000310325.5	-	10	1275		c.e10-1			NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTGCCAGCTCTGAGATGGGA	0.652000													19	23					0	0	1	0	0
FAHD2B	151313	broad.mit.edu	37	2	97751472	97751472	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:97751472G>A	ENST00000414820.1	-	6	919	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	FAHD2B_ENST00000272610.3_Silent_p.L217L|FAHD2B_ENST00000440566.2_Silent_p.L217L			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	217							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						GCAGGGCCCAGAGGGCAGAAG	0.587000													11	25					0	0	1	0	0
TOB1	10140	broad.mit.edu	37	17	48940731	48940731	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:48940731G>C	ENST00000499247.2	-	2	1081	c.648C>G	c.(646-648)ctC>ctG	p.L216L	TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000268957.3_Silent_p.L216L	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	216					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCTGCTTCAAGAGGTCATTCA	0.537000													10	55					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136295082	136295082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:136295082G>A	ENST00000371929.3	+	8	1292	c.848G>A	c.(847-849)tGg>tAg	p.W283*	ADAMTS13_ENST00000356589.2_Intron|ADAMTS13_ENST00000355699.2_Nonsense_Mutation_p.W283*|ADAMTS13_ENST00000536611.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	283	Peptidase M12B.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CGCTGCGTGTGGGACCCGCCG	0.756000													3	2					0	0	1	0	0
NDUFAB1	4706	broad.mit.edu	37	16	23598542	23598542	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:23598542G>C	ENST00000570319.1	-	2	267	c.267C>G	c.(265-267)ctC>ctG	p.L89L	NDUFAB1_ENST00000007516.3_Silent_p.L89L			O14561	ACPM_HUMAN	NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa	89					fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone	mitochondrial matrix|mitochondrial respiratory chain complex I	acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|NADH dehydrogenase (ubiquinone) activity|phosphopantetheine binding			endometrium(1)|large_intestine(1)|lung(1)	3				GBM - Glioblastoma multiforme(48;0.0339)	NADH(DB00157)	TCTTGTCATAGAGTTTCAATA	0.403000													26	60					0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57599208	57599208	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:57599208C>T	ENST00000217133.1	+	4	995	c.726C>T	c.(724-726)ttC>ttT	p.F242F		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	242					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CCCTCCGGTTCCCGGGTCAGC	0.612000													29	40					0	0	1	0	0
LEFTY2	7044	broad.mit.edu	37	1	226127130	226127130	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:226127130G>C	ENST00000366820.5	-	3	1016	c.668C>G	c.(667-669)tCg>tGg	p.S223W	LEFTY2_ENST00000420304.2_Missense_Mutation_p.S189W	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	223					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CGCCCCCTGCGAGGCAAAGCG	0.706000													5	15					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53804577	53804577	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:53804577C>G	ENST00000288139.4	+	33	4220	c.4102C>G	c.(4102-4104)Cag>Gag	p.Q1368E	CACNA1D_ENST00000350061.5_Missense_Mutation_p.Q1348E|CACNA1D_ENST00000422281.2_Missense_Mutation_p.Q1333E|CACNA1D_ENST00000540742.1_Missense_Mutation_p.Q240E	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TAAGTCCTTTCAGGTAAGAGC	0.493000													14	43					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92307760	92307760	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:92307760C>T	ENST00000276609.3	+	4	545	c.306C>T	c.(304-306)ggC>ggT	p.G102G	SLC26A7_ENST00000309536.2_Splice_Site_p.G102G|SLC26A7_ENST00000523719.1_Splice_Site_p.G102G	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	102						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TGGTTTCAGGCACCTTTGCCT	0.438000													19	57					0	0	1	0	0
GPC2	221914	broad.mit.edu	37	7	99768101	99768101	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:99768101C>T	ENST00000292377.2	-	10	1659	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	498						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGCTGGCATCCTCATCTGCA	0.577000													10	11					0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414963	46414963	+	Nonsense_Mutation	SNP	G	G	A	rs333	byFrequency	TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:46414963G>A	ENST00000343801.4	+	3	927	c.570G>A	c.(568-570)tgG>tgA	p.W190*	CCR5_ENST00000445772.1_Nonsense_Mutation_p.W190*|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000292303.4_Nonsense_Mutation_p.W190*	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	190					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ATCAATTCTGGAAGAATTTCC	0.443000													105	224					0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414907	46414907	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:46414907G>C	ENST00000343801.4	+	3	871	c.514G>C	c.(514-516)Gaa>Caa	p.E172Q	CCR5_ENST00000445772.1_Missense_Mutation_p.E172Q|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000292303.4_Missense_Mutation_p.E172Q	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	172					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ATCTCAAAAAGAAGGTCTTCA	0.463000													114	248					0	0	1	0	0
CDK5	1020	broad.mit.edu	37	7	150754180	150754180	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:150754180C>T	ENST00000485972.1	-	2	786	c.105G>A	c.(103-105)gtG>gtA	p.V35V	CDK5_ENST00000297518.4_Silent_p.V35V	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	35	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CATCCAGCCTCACCCGTTTCA	0.612000													54	128					0	0	1	0	0
NEK6	10783	broad.mit.edu	37	9	127074813	127074813	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:127074813G>T	ENST00000373600.3	+	4	433	c.218G>T	c.(217-219)cGc>cTc	p.R73L	NEK6_ENST00000546191.1_Missense_Mutation_p.R39L|NEK6_ENST00000545174.1_Missense_Mutation_p.R39L|NEK6_ENST00000539416.1_Missense_Mutation_p.R64L|NEK6_ENST00000394199.2_Missense_Mutation_p.R73L|NEK6_ENST00000320246.5_Missense_Mutation_p.R39L|NEK6_ENST00000540326.1_Missense_Mutation_p.R57L|NEK6_ENST00000373603.1_Missense_Mutation_p.R39L	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	39	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CTGTCTTTTCGCTGCTCGCTG	0.622000													12	11					0.00010058	0.000103516	1	1	0
TLR8	51311	broad.mit.edu	37	X	12938507	12938507	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:12938507C>G	ENST00000218032.6	+	2	1435	c.1348C>G	c.(1348-1350)Cat>Gat	p.H450D	TLR8_ENST00000311912.5_Missense_Mutation_p.H468D	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	450					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTTTCAACGTCATATCCGGAA	0.388000													39	23					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157494093	157494093	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:157494093C>T	ENST00000361835.3	-	10	2372	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	FCRL5_ENST00000356953.4_Missense_Mutation_p.E739K|FCRL5_ENST00000368191.3_Missense_Mutation_p.E654K|FCRL5_ENST00000368190.3_Missense_Mutation_p.E739K	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	739	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTCACCATCTCACTGCGCTGG	0.567000													8	39					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45009699	45009699	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:45009699G>C	ENST00000258787.7	-	10	1408	c.1272C>G	c.(1270-1272)atC>atG	p.I424M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	424	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGATGAGCTGGATGAATAGCT	0.602000													8	24					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81667533	81667533	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:81667533C>G	ENST00000356860.3	-	11	1236	c.898G>C	c.(898-900)Gat>Cat	p.D300H	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D300H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	300	VWFA.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CAGCTTACATCCTGAGCATTG	0.308000													30	62					0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130605388	130605388	+	Silent	SNP	G	G	A	rs45605432		TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:130605388G>A	ENST00000344849.3	-	2	484	c.204C>T	c.(202-204)ttC>ttT	p.F68F	ENG_ENST00000373203.4_Silent_p.F68F			P17813	EGLN_HUMAN	endoglin	68					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGAACTCCAGGAAGAGGACAT	0.627000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				28	86					0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153649011	153649011	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:153649011G>C	ENST00000299328.5	+	10	1003	c.714G>C	c.(712-714)ctG>ctC	p.L238L	TAZ_ENST00000475699.1_Silent_p.L211L|TAZ_ENST00000351413.4_Silent_p.L224L|TAZ_ENST00000369776.4_Silent_p.L208L|TAZ_ENST00000369790.4_Silent_p.L194L|TAZ_ENST00000350743.4_Silent_p.L208L|TAZ_ENST00000498029.1_3'UTR	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	238					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					TCACTGTGCTGATCGGGAAGC	0.637000													35	14					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59947173	59947173	+	Silent	SNP	A	A	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:59947173A>T	ENST00000444766.3	-	21	3054	c.2979T>A	c.(2977-2979)gtT>gtA	p.V993V	INTS2_ENST00000251334.6_Silent_p.V985V	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	993					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TAAGGCACTGAACTTCTCGAA	0.403000													54	117					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33441241	33441241	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:33441241G>A	ENST00000265112.3	+	1	360	c.49G>A	c.(49-51)Gag>Aag	p.E17K	TARS_ENST00000414361.2_5'UTR|TARS_ENST00000502553.1_Missense_Mutation_p.E17K|TARS_ENST00000455217.2_Missense_Mutation_p.E17K|TARS_ENST00000541634.1_5'UTR	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	17					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GGGAGGCGAGGAGAAGCCGGT	0.627000													52	86					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156532411	156532411	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:156532411G>T	ENST00000361170.2	-	9	855	c.845C>A	c.(844-846)gCt>gAt	p.A282D		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	282					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGGATTTCAGCCTGAGTTAG	0.502000													24	75					6.07407e-21	6.73882e-21	1	1	0
RIPK1	8737	broad.mit.edu	37	6	3083474	3083474	+	Silent	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:3083474C>A	ENST00000259808.4	+	5	913	c.615C>A	c.(613-615)ccC>ccA	p.P205P	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Silent_p.P205P|RIPK1_ENST00000541791.1_Silent_p.P159P			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	205	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACGCAAAGCCCACAGAGAAGT	0.507000													18	40					8.00594e-06	8.29223e-06	1	1	0
CACNA1A	773	broad.mit.edu	37	19	13325339	13325339	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr19:13325339C>G	ENST00000360228.5	-	39	5814	c.5815G>C	c.(5815-5817)Gac>Cac	p.D1939H	CACNA1A_ENST00000573710.2_Missense_Mutation_p.D1940H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1940					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACCAGCAGGTCTAGCGTCTTC	0.597000													14	24					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34935742	34935742	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:34935742C>T	ENST00000304718.4	+	8	1229	c.913C>T	c.(913-915)Cat>Tat	p.H305Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	305					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CTTGGGAATTCATCTTTATGA	0.418000													34	64					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102504297	102504297	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:102504297G>C	ENST00000413150.2	+	27	3194	c.3139G>C	c.(3139-3141)Gag>Cag	p.E1047Q	MAP4K4_ENST00000324219.4_Missense_Mutation_p.E1213Q|MAP4K4_ENST00000347699.4_Missense_Mutation_p.E1132Q|MAP4K4_ENST00000350878.4_Missense_Mutation_p.E1172Q|MAP4K4_ENST00000456652.1_Missense_Mutation_p.E931Q|MAP4K4_ENST00000302217.5_Missense_Mutation_p.E935Q|MAP4K4_ENST00000350198.4_Missense_Mutation_p.E1059Q|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E1165Q	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1132	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGATGGAATGGAGCTTCTGGT	0.453000													23	44					0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100172856	100172856	+	Silent	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:100172856C>G	ENST00000310300.6	-	18	1978	c.1926G>C	c.(1924-1926)gtG>gtC	p.V642V	LRCH4_ENST00000497245.1_Silent_p.V190V	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	642	CH.		V -> M (in dbSNP:rs3197597).		nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCACCCGCTTCACGGCCTCCA	0.692000													8	9					0	0	1	0	0
BAG4	9530	broad.mit.edu	37	8	38034611	38034611	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:38034611C>T	ENST00000287322.4	+	1	495	c.224C>T	c.(223-225)tCg>tTg	p.S75L	BAG4_ENST00000432471.2_Missense_Mutation_p.S75L|BAG4_ENST00000521282.1_3'UTR	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	75					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TACTATCCCTCGGGAGGCGCC	0.706000													5	11					0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55339536	55339536	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:55339536C>T	ENST00000284073.2	+	5	504	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	MSI2_ENST00000416426.2_Missense_Mutation_p.R77C|MSI2_ENST00000322684.3_Missense_Mutation_p.R95C	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	99	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TGCATTTCCTCGTCGAGCGCA	0.353000			T	HOXA9	CML								42	79					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109959263	109959263	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:109959263G>A	ENST00000342494.3	+	21	2866	c.2271G>A	c.(2269-2271)gaG>gaA	p.E757E	UBE3B_ENST00000434735.2_Silent_p.E757E	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	757	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GTGGGGATGAGAGGCTGTACC	0.532000													13	37					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47886923	47886923	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:47886923C>T	ENST00000396105.1	-	3	1672	c.1426G>A	c.(1426-1428)Gat>Aat	p.D476N	ZNFX1_ENST00000371752.1_Missense_Mutation_p.D476N|ZNFX1_ENST00000371754.4_Missense_Mutation_p.D476N	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	476							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGGCAGAGATCTTCCTGCTCC	0.488000													31	64					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56682459	56682459	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr17:56682459G>C	ENST00000389934.3	-	11	1333	c.1216C>G	c.(1216-1218)Cga>Gga	p.R406G	TEX14_ENST00000349033.5_Missense_Mutation_p.R406G|TEX14_ENST00000240361.8_Missense_Mutation_p.R412G	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	412	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)					AGGGGCACTCGAGTCAGGTCC	0.478000													18	26					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71490881	71490881	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:71490881G>A	ENST00000296755.7	+	5	1997	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	567						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGAAACCCCTGAGGTCACAAA	0.443000													14	7					0	0	1	0	0
RDH12	145226	broad.mit.edu	37	14	68200510	68200510	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr14:68200510C>G	ENST00000551171.1	+	9	1220	c.896C>G	c.(895-897)aCa>aGa	p.T299R	RDH12_ENST00000539142.1_Missense_Mutation_p.T299R|RDH12_ENST00000267502.3_Missense_Mutation_p.T299R	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	299					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	AATAACAAAACAGCTGAGCGC	0.507000													16	14					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62491893	62491893	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:62491893C>T	ENST00000301785.5	-	2	736	c.544G>A	c.(544-546)Gac>Aac	p.D182N	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.D182N	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	182	Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTATCCTGGTCATCTCCTACA	0.458000													20	47					0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23866305	23866305	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr18:23866305G>T	ENST00000269142.5	+	7	2430	c.1432G>T	c.(1432-1434)Gct>Tct	p.A478S	TAF4B_ENST00000400466.2_Missense_Mutation_p.A478S|TAF4B_ENST00000578121.1_Missense_Mutation_p.A478S	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	478					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TTCAGGTGCAGCTATTTGTCT	0.478000													79	86					3.73172e-31	4.19172e-31	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2005867	2005867	+	Missense_Mutation	SNP	G	G	A	rs139084687	byFrequency	TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr8:2005867G>A	ENST00000262113.4	+	5	670	c.529G>A	c.(529-531)Gtg>Atg	p.V177M	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	177	Ig-like C2-type 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGCTTCACCGTGCAAGGATT	0.552000													13	7					0	0	1	0	0
GJB6	10804	broad.mit.edu	37	13	20797072	20797072	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr13:20797072G>C	ENST00000356192.6	-	5	1168	c.548C>G	c.(547-549)tCt>tGt	p.S183C	GJB6_ENST00000400065.3_Missense_Mutation_p.S183C|GJB6_ENST00000241124.6_Missense_Mutation_p.S183C|GJB6_ENST00000400066.3_Missense_Mutation_p.S183C	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	183					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TGTTGGCCTAGAAATAAAGCA	0.448000													13	31					0	0	1	0	0
PRKAB1	5564	broad.mit.edu	37	12	120106173	120106173	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:120106173G>A	ENST00000229328.5	+	1	616	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	PRKAB1_ENST00000541640.1_Missense_Mutation_p.E42K	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	42					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	GGACAGCCCCGAAGACGCCGA	0.637000													7	20					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576799	158576799	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:158576799G>A	ENST00000361284.1	+	1	571	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGCCTGTGGAGATACAGGCCC	0.498000													46	91					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13221383	13221383	+	Silent	SNP	T	T	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr9:13221383T>G	ENST00000319217.7	-	7	1111	c.864A>C	c.(862-864)ggA>ggC	p.G288G	MPDZ_ENST00000546205.1_Silent_p.G288G|MPDZ_ENST00000381015.4_Silent_p.G288G|MPDZ_ENST00000536827.1_Silent_p.G288G|MPDZ_ENST00000541718.1_Silent_p.G288G|MPDZ_ENST00000381022.2_Silent_p.G288G|MPDZ_ENST00000447879.1_Silent_p.G288G	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	288	PDZ 2.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GATCAGCTACTCCTCCAGGCA	0.358000													13	10					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531916	92531916	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr11:92531916G>A	ENST00000298047.6	+	9	5754	c.5737G>A	c.(5737-5739)Gag>Aag	p.E1913K	FAT3_ENST00000525166.1_Missense_Mutation_p.E1763K|FAT3_ENST00000409404.2_Missense_Mutation_p.E1913K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1913	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCTGACTCTGAGGTACCCCC	0.423000										TCGA Ovarian(4;0.039)			5	28					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52480014	52480014	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:52480014G>A	ENST00000219746.9	-	5	1082	c.798C>T	c.(796-798)ttC>ttT	p.F266F	TOX3_ENST00000407228.3_Silent_p.F261F	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	266					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTGTGTCTCTGAAAAACAGGG	0.458000													26	53					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85636459	85636459	+	Silent	SNP	G	G	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr4:85636459G>C	ENST00000322366.6	-	49	8309	c.7902C>G	c.(7900-7902)gtC>gtG	p.V2634V	WDFY3_ENST00000295888.4_Silent_p.V2651V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2651						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACCTTTGATAGACTTTGTTTC	0.373000													12	58					0	0	1	0	0
PLLP	51090	broad.mit.edu	37	16	57290894	57290894	+	Silent	SNP	G	G	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:57290894G>A	ENST00000219207.5	-	4	626	c.480C>T	c.(478-480)ttC>ttT	p.F160F	PLLP_ENST00000569059.1_Silent_p.F102F	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN	plasmolipin	160	MARVEL.					integral to membrane	ion channel activity			endometrium(1)|prostate(1)	2						CCTGGTAGCTGAAGAAGGCAC	0.582000													23	47					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58125209	58125209	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr12:58125209C>A	ENST00000257897.3	-	10	1162	c.1077G>T	c.(1075-1077)tgG>tgT	p.W359C	AGAP2_ENST00000547588.1_Missense_Mutation_p.W695C	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	695	Interaction with PLCG1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATTTCTTCTTCCATTCTTTGT	0.468000													26	92					3.65163e-15	3.99659e-15	1	1	0
TP53TG5	27296	broad.mit.edu	37	20	44005932	44005932	+	Silent	SNP	C	C	T			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr20:44005932C>T	ENST00000372726.3	-	3	330	c.174G>A	c.(172-174)cgG>cgA	p.R58R	TP53TG5_ENST00000494455.1_5'UTR|TP53TG5_ENST00000537995.1_Silent_p.R42R|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	58					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						GTTCTTGGATCCGGCGGTTTG	0.507000													79	193					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145500054	145500054	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr5:145500054C>G	ENST00000394434.2	-	31	3371	c.3205G>C	c.(3205-3207)Gtt>Ctt	p.V1069L	LARS_ENST00000274562.9_Missense_Mutation_p.V1042L|LARS_ENST00000545646.1_Missense_Mutation_p.V1023L|LARS_ENST00000510191.1_Missense_Mutation_p.V1015L	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1069					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ACCAGAGAAACGGACACACCA	0.423000													4	57					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179078329	179078363	+	Frame_Shift_Del	DEL	AGATGAGAAGTTACCCGTGAGTTCGTATTTCTTAT	AGATGAGAAGTTACCCGTGAGTTCGTATTTCTTAT	-	rs28913887	byFrequency	TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr1:179078329_179078363delAGATGAGAAGTTACCCGTGAGTTCGTATTTCTTAT	ENST00000502732.1	-	12	2242_2276	c.2039_2073delATAAGAAATACGAACTCACGGGTAACTTCTCATCT	c.(2038-2073)cataagaaatacgaactcacgggtaacttctcatctfs	p.HKKYELTGNFSS680fs	ABL2_ENST00000408940.3_Frame_Shift_Del_p.HKKYELTGNFSS644fs|ABL2_ENST00000507173.1_Splice_Site_p.HKKYELTG659fs|ABL2_ENST00000504405.1_Splice_Site_p.HKKYELTG644fs|ABL2_ENST00000367623.4_Frame_Shift_Del_p.HKKYELTGNFSS659fs|ABL2_ENST00000512653.1_Frame_Shift_Del_p.HKKYELTGNFSS665fs|ABL2_ENST00000511413.1_Splice_Site_p.HKKYELTG680fs|ABL2_ENST00000344730.3_Splice_Site_p.HKKYELTG665fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	680					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E648K(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GAGAAGCAACAGATGAGAAGTTACCCGTGAGTTCGTATTTCTTATGGGGCTGATT	0.519			T	ETV6	AML								16	62	---	---	---	---					
POLR1B	84172	broad.mit.edu	37	2	113325601	113325602	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:113325601_113325602insC	ENST00000263331.5	+	11	2384_2385	c.1804_1805insC	c.(1804-1806)ggafs	p.G602fs	POLR1B_ENST00000541869.1_Frame_Shift_Ins_p.G640fs|POLR1B_ENST00000409894.3_Frame_Shift_Ins_p.G419fs|POLR1B_ENST00000537335.1_Frame_Shift_Ins_p.G391fs|POLR1B_ENST00000417433.2_Frame_Shift_Ins_p.G546fs	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	602					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						ACCCATGACAGGAAAACCAAGT	0.441													21	82	---	---	---	---					
SLC39A10	57181	broad.mit.edu	37	2	196545734	196545734	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr2:196545734delC	ENST00000409086.3	+	2	1243	c.968delC	c.(967-969)tctfs	p.S323fs	SLC39A10_ENST00000541054.1_5'UTR|SLC39A10_ENST00000359634.5_Frame_Shift_Del_p.S323fs	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	323					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GCAATAATTTCTTTGAGAAAA	0.358													18	37	---	---	---	---					
SCAP	22937	broad.mit.edu	37	3	47461047	47461048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr3:47461047_47461048insG	ENST00000265565.5	-	13	2122_2123	c.1710_1711insC	c.(1708-1713)cccagcfs	p.S571fs	SCAP_ENST00000545718.1_Frame_Shift_Ins_p.S179fs|SCAP_ENST00000441517.2_Frame_Shift_Ins_p.S316fs	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	571					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TCCGGGTGGCTGGGGGGCAGCA	0.658													16	36	---	---	---	---					
FBXO5	26271	broad.mit.edu	37	6	153296240	153296240	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr6:153296240delT	ENST00000367241.3	-	2	862	c.482delA	c.(481-483)aagfs	p.K161fs	FBXO5_ENST00000229758.3_Frame_Shift_Del_p.K207fs	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	207	Interaction with EVI5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|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 mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		TTTTGCATTCTTTTTTAATGT	0.373													18	56	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64532708	64532709	+	RNA	INS	-	-	A			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr7:64532708_64532709insA	ENST00000426828.1	+	0	1228					NR_033416.1																						AAATGGGGACCAAAAAAAAAAA	0.351													2	4	---	---	---	---					
CASC5	57082	broad.mit.edu	37	15	40915445	40915446	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr15:40915445_40915446delGA	ENST00000346991.5	+	11	3451_3452	c.3061_3062delGA	c.(3061-3063)gagfs	p.E1021fs	CASC5_ENST00000399668.2_Frame_Shift_Del_p.E995fs			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1021	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TCCTACTGAGGAGAGTGTTTTC	0.441													19	29	---	---	---	---					
BFAR	51283	broad.mit.edu	37	16	14761587	14761587	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:14761587delG	ENST00000261658.2	+	8	1533	c.1256delG	c.(1255-1257)tgcfs	p.C419fs	BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000563971.1_Frame_Shift_Del_p.C294fs|BFAR_ENST00000426842.2_Frame_Shift_Del_p.C291fs	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	419					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CAGTTTGTTTGCAACTGTTTG	0.493													40	89	---	---	---	---					
ESRP2	80004	broad.mit.edu	37	16	68264854	68264854	+	Frame_Shift_Del	DEL	G	G	-	rs117260313	byFrequency	TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr16:68264854delG	ENST00000473183.2	-	13	2326	c.1788delC	c.(1786-1788)cccfs	p.P596fs	ESRP2_ENST00000565858.1_Frame_Shift_Del_p.P606fs			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	606					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GTGCTGAAGAGGGGTATAGAG	0.592													15	45	---	---	---	---					
PLXNB2	23654	broad.mit.edu	37	22	50716386	50716399	+	Frame_Shift_Del	DEL	GTGCCCAGGCGCCA	GTGCCCAGGCGCCA	-			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chr22:50716386_50716399delGTGCCCAGGCGCCA	ENST00000449103.1	-	32	5071_5084	c.4931_4944delTGGCGCCTGGGCAC	c.(4930-4944)ctggcgcctgggcacfs	p.LAPGH1644fs	PLXNB2_ENST00000359337.4_Frame_Shift_Del_p.LAPGH1644fs			O15031	PLXB2_HUMAN	plexin B2	1644					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGCACCGCGTGCCCAGGCGCCAGCACGCTCTG	0.621													16	13	---	---	---	---					
EFNB1	1947	broad.mit.edu	37	X	68059526	68059526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-AA6S-01A-21D-A391-08	TCGA-DK-AA6S-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc56d5c-c2c6-4cbf-8f5c-eecc24e9500b	b00c2edd-0ed7-4d58-a492-7096f3ca9c06	g.chrX:68059526delG	ENST00000204961.4	+	3	1206	c.426delG	c.(424-426)ctgfs	p.L142fs		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	142					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						ATGGAAGCCTGGAGGGGCTGG	0.557													2	4	---	---	---	---