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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
SMAD4	4089	broad.mit.edu	37	18	48604715	48604716	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr18:48604715_48604716insA	ENST00000588745.1	+	8	1249_1250	c.1249_1250insA	c.(1249-1251)tacfs	p.Y417fs	SMAD4_ENST00000342988.3_Frame_Shift_Ins_p.Y513fs|SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.Y513fs|SMAD4_ENST00000586253.1_3'UTR			Q13485	SMAD4_HUMAN	SMAD family member 4	513	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGGACCGGATTACCCAAGACAG	0.48		NA											False	1	True	18:48604715	0
ZNF468	90333	broad.mit.edu	37	19	53344850	53344850	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr19:53344850delG	ENST00000595646.1	-	4	817	c.697delC	c.(697-699)catfs	p.H233fs	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Frame_Shift_Del_p.H180fs|ZNF468_ENST00000390651.4_Frame_Shift_Del_p.H180fs|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		ATTATCTGATGTTTTTTTAAG	0.353		NA											False	1	True	19:53344850	0
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	NA										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314		NA											False	1	False	2:97847365	0
SEMA3F	6405	broad.mit.edu	37	3	50222213	50222214	+	In_Frame_Ins	INS	-	-	GACGGGCGT			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr3:50222213_50222214insGACGGGCGT	ENST00000002829.3	+	13	1906_1907	c.1422_1423insGACGGGCGT	c.(1423-1425)gac>GACGGGCGTgac	p.475_475D>DGRD	SEMA3F_ENST00000413852.1_In_Frame_Ins_p.376_376D>DGRD|SEMA3F_ENST00000434342.1_In_Frame_Ins_p.444_444D>DGRD	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	475	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TGGATGCAGCCGACGGGCGCTA	0.673		NA											False	0	False	3:50222213	0
A4GNT	51146	broad.mit.edu	37	3	137849766	137849767	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr3:137849766_137849767insA	ENST00000236709.3	-	2	533_534	c.332_333insT	c.(331-333)atafs	p.I111fs		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	111					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AAACGTTGTCTATTGCTGACAG	0.421		NA											False	1	False	3:137849766	0
LMLN	89782	broad.mit.edu	37	3	197687308	197687309	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr3:197687308_197687309delTG	ENST00000330198.4	+	1	238_239	c.216_217delTG	c.(214-219)actgagfs	p.E73fs	LMLN_ENST00000420910.2_Frame_Shift_Del_p.E73fs|LMLN_ENST00000482695.1_Intron|LMLN_ENST00000332636.5_Intron	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	73					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CCTCTGACACTGAGGTAGGGCG	0.639		NA											False	1	False	3:197687308	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
CACNA1B	774	broad.mit.edu	37	9	140851258	140851260	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr9:140851258_140851260delGAG	ENST00000371372.1	+	9	1367_1369	c.1222_1224delGAG	c.(1222-1224)gagdel	p.E409del	CACNA1B_ENST00000371355.4_In_Frame_Del_p.E409del|CACNA1B_ENST00000277551.2_In_Frame_Del_p.E409del|CACNA1B_ENST00000371357.1_In_Frame_Del_p.E409del|CACNA1B_ENST00000371363.1_In_Frame_Del_p.E409del|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	409					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAGGAATGCAGAGGAGAAGTCCC	0.616		NA											False	2	False	9:140851258	0
TMEM176A	55365	broad.mit.edu	37	7	150498695	150498695	+	Silent	SNP	C	C	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:150498695C>A	ENST00000484928.1	+	2	638	c.57C>A	c.(55-57)atC>atA	p.I19I	TMEM176A_ENST00000004103.3_Silent_p.I19I|TMEM176A_ENST00000461345.1_Intron			Q96HP8	T176A_HUMAN	transmembrane protein 176A	19						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACCCACATCGATGTGCACA	0.657		NA											False	0	False	7:150498695	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA											False	0	False	2:109371498	0
GP2	2813	broad.mit.edu	37	16	20329591	20329591	+	Missense_Mutation	SNP	C	C	T	rs145287300		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr16:20329591C>T	ENST00000302555.5	-	7	1318	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	GP2_ENST00000341642.5_Missense_Mutation_p.R243Q|GP2_ENST00000381360.5_Missense_Mutation_p.R246Q|GP2_ENST00000381362.4_Missense_Mutation_p.R393Q			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	393	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGGTTAAACCGGGAGGTGTC	0.498		NA											False	0	True	16:20329591	0
IL1RL1	9173	broad.mit.edu	37	2	102957161	102957161	+	Silent	SNP	G	G	A	rs142878092		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:102957161G>A	ENST00000311734.2	+	5	822	c.483G>A	c.(481-483)gcG>gcA	p.A161A	IL1RL1_ENST00000409584.1_Silent_p.A161A|IL1RL1_ENST00000393393.3_Silent_p.A161A|IL1RL1_ENST00000404917.2_Silent_p.A44A|IL1RL1_ENST00000233954.1_Silent_p.A161A	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	161	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GGTACAGGGCGCACAAGTCAT	0.358		NA											False	0	False	2:102957161	0
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483		NA											False	0	True	5:32407029	0
SLC44A4	80736	broad.mit.edu	37	6	31832445	31832445	+	Silent	SNP	C	C	T	rs146889731		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:31832445C>T	ENST00000544672.1	-	20	2063	c.1767G>A	c.(1765-1767)acG>acA	p.T589T	SLC44A4_ENST00000375562.4_Silent_p.T623T|SLC44A4_ENST00000229729.6_Silent_p.T665T	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	665						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)	AGAGGAAGAGCGTGTCCACAC	0.522		NA											False	0	False	6:31832445	0
TLK2	11011	broad.mit.edu	37	17	60637441	60637441	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:60637441G>A	ENST00000582809.1	+	11	1041	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	TLK2_ENST00000326270.9_Missense_Mutation_p.R262Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R262Q|TLK2_ENST00000542523.1_Missense_Mutation_p.R230Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R230Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	262					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.R262Q(17)|p.R261Q(9)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TACAAGGAACGATTAAATAGA	0.358		NA											False	0	False	17:60637441	0
RNF43	54894	broad.mit.edu	37	17	56440757	56440757	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:56440757G>A	ENST00000584437.1	-	4	2416	c.461C>T	c.(460-462)cCg>cTg	p.P154L	RNF43_ENST00000500597.2_Missense_Mutation_p.P113L|RNF43_ENST00000577716.1_Missense_Mutation_p.P154L|RNF43_ENST00000407977.2_Missense_Mutation_p.P154L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.P113L|RNF43_ENST00000581868.1_Missense_Mutation_p.P27L|RNF43_ENST00000577625.1_Missense_Mutation_p.P27L			Q68DV7	RNF43_HUMAN	ring finger protein 43	154						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCCCCAGCGGCTGCTGCAG	0.577		NA											False	0	False	17:56440757	0
PRMT5	10419	broad.mit.edu	37	14	23391693	23391693	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:23391693G>A	ENST00000324366.8	-	15	1878	c.1655C>T	c.(1654-1656)gCc>gTc	p.A552V	PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.A508V|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.A535V|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.A381V|PRMT5_ENST00000538452.1_Missense_Mutation_p.A446V|PRMT5_ENST00000216350.8_Missense_Mutation_p.A491V	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	552					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AAAGTAGCCGGCAAAGCCATG	0.463		NA											False	0	False	14:23391693	0
RNF213	57674	broad.mit.edu	37	17	78321225	78321225	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:78321225G>A	ENST00000582970.1	+	29	9233	c.9090G>A	c.(9088-9090)ccG>ccA	p.P3030P	RNF213_ENST00000508628.2_Silent_p.P3079P|RNF213_ENST00000336301.6_Silent_p.P1103P	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGAAGGTGCCGGGTGGAGAGC	0.547		NA											False	0	True	17:78321225	0
INPP4A	3631	broad.mit.edu	37	2	99163080	99163080	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:99163080G>A	ENST00000409016.4	+	13	1483	c.1086G>A	c.(1084-1086)gcG>gcA	p.A362A	INPP4A_ENST00000074304.5_Silent_p.A362A|INPP4A_ENST00000523221.1_Silent_p.A362A|INPP4A_ENST00000409540.3_Silent_p.A362A|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Silent_p.A362A|INPP4A_ENST00000409851.3_Silent_p.A362A			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	NA					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCATTGGGGCGCCAGCAGCAC	0.493		NA											False	0	False	2:99163080	0
ANKRD53	79998	broad.mit.edu	37	2	71211256	71211256	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:71211256C>T	ENST00000272421.6	+	6	1173	c.907C>T	c.(907-909)Caa>Taa	p.Q303*	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000441349.1_Nonsense_Mutation_p.Q214*|ANKRD53_ENST00000360589.3_Intron|ANKRD53_ENST00000457410.1_Intron	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	0										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						TTTCCAGGGTCAAGGATGCAG	0.502		NA											False	0	False	2:71211256	0
CENPC	1060	broad.mit.edu	37	4	68378155	68378155	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr4:68378155C>T	ENST00000273853.6	-	9	1827	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H		NM_001812.2	NP_001803.2			centromere protein C	NA											NA						ATCAGATGGACGCCTGGAAAT	0.373		NA											False	0	False	4:68378155	0
OIT3	170392	broad.mit.edu	37	10	74671488	74671488	+	Silent	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr10:74671488C>T	ENST00000334011.5	+	5	899	c.681C>T	c.(679-681)tgC>tgT	p.C227C		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	227						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TTGAAGGATGCCACAATAACA	0.483		NA											False	0	False	10:74671488	0
PUS1	80324	broad.mit.edu	37	12	132426131	132426131	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:132426131C>T	ENST00000542167.2	+	4	1433	c.680C>T	c.(679-681)gCg>gTg	p.A227V	PUS1_ENST00000443358.2_Missense_Mutation_p.A252V|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000440818.2_Missense_Mutation_p.A252V|PUS1_ENST00000376649.3_Missense_Mutation_p.A280V			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	280						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CTGGAGTTTGCGGTGATCAGG	0.592		NA											False	0	False	12:132426131	0
RNF157	114804	broad.mit.edu	37	17	74148532	74148532	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:74148532C>T	ENST00000269391.6	-	18	1957	c.1825G>A	c.(1825-1827)Gca>Aca	p.A609T	RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157_ENST00000319945.6_Missense_Mutation_p.A587T|RNF157-AS1_ENST00000586627.1_RNA	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	609							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CCTAGAAATGCGCACGTCCTC	0.458		NA											False	0	False	17:74148532	0
HDAC4	9759	broad.mit.edu	37	2	239975284	239975284	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:239975284G>A	ENST00000345617.3	-	26	3878	c.3087C>T	c.(3085-3087)cgC>cgT	p.R1029R	HDAC4_ENST00000543185.1_Silent_p.R613R	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1029	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCTGCAGGCAGCGCCAGTACT	0.627		NA											False	0	True	2:239975284	0
CYP21A2	1589	broad.mit.edu	37	6	32008351	32008351	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:32008351C>T	ENST00000418967.2	+	8	1266	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	CYP21A2_ENST00000435122.2_Missense_Mutation_p.R340W	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	369					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CCGCACCACACGGCCCAGCAG	0.667		NA											False	0	False	6:32008351	0
TRPM4	54795	broad.mit.edu	37	19	49684660	49684660	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr19:49684660C>T	ENST00000252826.5	+	10	1331	c.1205C>T	c.(1204-1206)gCt>gTt	p.A402V	TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.A402V|TRPM4_ENST00000601347.1_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	402					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TTGGCTGTGGCTTGGAACCGC	0.617		NA											False	0	False	19:49684660	0
BARHL2	343472	broad.mit.edu	37	1	91180182	91180182	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:91180182G>A	ENST00000370445.4	-	2	798	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	253						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TACTTCTGCCGCTCAAAGCTA	0.567		NA											False	0	False	1:91180182	0
NAV3	89795	broad.mit.edu	37	12	78604240	78604240	+	Silent	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:78604240C>T	ENST00000397909.2	+	40	7274	c.7101C>T	c.(7099-7101)agC>agT	p.S2367S	NAV3_ENST00000266692.7_Silent_p.S2168S|NAV3_ENST00000541270.1_Silent_p.S197S|NAV3_ENST00000536525.2_Silent_p.S2345S|NAV3_ENST00000228327.6_Silent_p.S2345S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2367						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCTGCGACAGCGAAAGCACCA	0.393		NA								HNSCC(70;0.22)			False	0	False	12:78604240	0
SLC47A1	55244	broad.mit.edu	37	17	19480756	19480756	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:19480756G>A	ENST00000270570.4	+	17	1689	c.1603G>A	c.(1603-1605)Gct>Act	p.A535T	SLC47A1_ENST00000395585.1_Missense_Mutation_p.A535T|SLC47A1_ENST00000571335.1_Missense_Mutation_p.A281T|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000457293.1_Missense_Mutation_p.A535T|SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000575023.1_Missense_Mutation_p.A233T	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	535						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					ACAGGACGGCGCTAAATTGTC	0.512		NA											False	0	False	17:19480756	0
FAM153B	202134	broad.mit.edu	37	5	175528575	175528575	+	Missense_Mutation	SNP	C	C	G			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr5:175528575C>G	ENST00000253490.4	+	12	712	c.655C>G	c.(655-657)Ctg>Gtg	p.L219V	FAM153B_ENST00000515817.1_Missense_Mutation_p.L142V|FAM153B_ENST00000510151.1_Missense_Mutation_p.L142V|FAM153B_ENST00000512862.1_Intron			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	219										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CCCAGACACACTGGCCGAACG	0.453		NA											False	0	True	5:175528575	0
ACAN	176	broad.mit.edu	37	15	89382106	89382106	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr15:89382106C>T	ENST00000439576.2	+	3	657	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	ACAN_ENST00000558207.1_Missense_Mutation_p.R95W|ACAN_ENST00000559004.1_Missense_Mutation_p.R95W|ACAN_ENST00000561243.1_Missense_Mutation_p.R95W|ACAN_ENST00000352105.7_Missense_Mutation_p.R95W	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	95					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGGGCGCGTGCGGGTCAACAG	0.622		NA											False	0	True	15:89382106	0
PCDHB7	0	broad.mit.edu	37	5	140553506	140553506	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr5:140553506G>A	ENST00000231137.3	+	1	1264	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		364	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCGAGACAGTCGTGGCTGT	0.473		NA											False	0	False	5:140553506	0
M1AP	130951	broad.mit.edu	37	2	74802691	74802691	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:74802691G>A	ENST00000290536.5	-	7	1064	c.948C>T	c.(946-948)agC>agT	p.S316S	M1AP_ENST00000409585.1_Silent_p.S316S|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Silent_p.S34S|M1AP_ENST00000536235.1_Silent_p.S316S	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2			meiosis 1 associated protein	NA											NA						CGCAGAGCCCGCTAGATTTTA	0.448		NA											False	0	True	2:74802691	0
EML5	161436	broad.mit.edu	37	14	89181392	89181392	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:89181392G>A	ENST00000554922.1	-	9	1583	c.1335C>T	c.(1333-1335)ggC>ggT	p.G445G	EML5_ENST00000380664.5_Silent_p.G445G|EML5_ENST00000352093.5_Silent_p.G445G	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	445						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCAAACACTCGCCAACTTTTT	0.383		NA											False	0	False	14:89181392	0
OCA2	4948	broad.mit.edu	37	15	28263652	28263652	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr15:28263652G>T	ENST00000354638.3	-	7	853	c.698C>A	c.(697-699)gCa>gAa	p.A233E	OCA2_ENST00000382996.2_Missense_Mutation_p.A233E|OCA2_ENST00000353809.5_Missense_Mutation_p.A233E	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	233					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TAGGGCCCCTGCCAGGTCCAC	0.647		NA							Oculocutaneous Albinism				False	0	False	15:28263652	0
B4GALNT1	2583	broad.mit.edu	37	12	58021575	58021575	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:58021575G>T	ENST00000341156.4	-	10	1794	c.1210C>A	c.(1210-1212)Ccc>Acc	p.P404T	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.P349T	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	404					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGGGCGCCGGGCTCCACGCTC	0.706		NA											False	0	True	12:58021575	0
SMG7	9887	broad.mit.edu	37	1	183515464	183515464	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:183515464C>T	ENST00000367537.3	+	18	2878	c.2683C>T	c.(2683-2685)Ccg>Tcg	p.P895S	SMG7_ENST00000507469.1_Missense_Mutation_p.P866S|SMG7_ENST00000456731.2_Missense_Mutation_p.P824S|SMG7_ENST00000515829.2_Missense_Mutation_p.P866S|SMG7_ENST00000347615.2_Missense_Mutation_p.P912S|SMG7_ENST00000508461.1_Missense_Mutation_p.P870S			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	912					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACCCAGAATGCCGTTTGAGGT	0.458		NA											False	0	False	1:183515464	0
SLC35A1	10559	broad.mit.edu	37	6	88216129	88216129	+	Silent	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:88216129C>T	ENST00000369552.4	+	5	564	c.537C>T	c.(535-537)ggC>ggT	p.G179G	SLC35A1_ENST00000464978.1_Intron|SLC35A1_ENST00000544441.1_Silent_p.G45G|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000369557.5_Intron|SLC35A1_ENST00000369556.3_Silent_p.G179G	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	179					carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TAGGGTTTGGCGCTATAGCTA	0.313		NA											False	0	False	6:88216129	0
ZSWIM3	140831	broad.mit.edu	37	20	44506675	44506675	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr20:44506675G>A	ENST00000255152.2	+	2	1687	c.1478G>A	c.(1477-1479)gGc>gAc	p.G493D	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.G487D	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	493							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TCGCAGGTTGGCATGCTGGAC	0.582		NA											False	0	False	20:44506675	0
MAPT	4137	broad.mit.edu	37	17	44073913	44073913	+	Silent	SNP	G	G	A	rs115142761	by1000genomes	TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:44073913G>A	ENST00000344290.5	+	11	2032	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000340799.5_Silent_p.S206S|MAPT_ENST00000334239.8_Silent_p.S177S|MAPT_ENST00000574436.1_Silent_p.S235S|MAPT_ENST00000571987.1_Silent_p.S552S|MAPT_ENST00000431008.3_Silent_p.S235S|MAPT_ENST00000415613.2_Silent_p.S570S|MAPT_ENST00000535772.1_Silent_p.S235S|MAPT_ENST00000446361.3_Silent_p.S177S|MAPT_ENST00000262410.5_Silent_p.S552S|MAPT_ENST00000420682.2_Silent_p.S206S|MAPT_ENST00000576518.1_Silent_p.S166S|MAPT_ENST00000347967.5_Silent_p.S141S|MAPT_ENST00000351559.5_Silent_p.S235S	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	552					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CACCCAAGTCGCCGTCTTCCG	0.662		NA											False	0	False	17:44073913	0
TPI1	7167	broad.mit.edu	37	12	6979268	6979268	+	Missense_Mutation	SNP	C	C	T	rs139532537		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:6979268C>T	ENST00000229270.4	+	6	1047	c.710C>T	c.(709-711)gCg>gTg	p.A237V	TPI1_ENST00000535434.1_Missense_Mutation_p.A118V|TPI1_ENST00000488464.2_Missense_Mutation_p.A118V|TPI1_ENST00000396705.5_Missense_Mutation_p.A200V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	200					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GTCTCTGATGCGGTGGCTCAG	0.552		NA									OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:6979268	0
P2RX1	5023	broad.mit.edu	37	17	3807664	3807664	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:3807664G>A	ENST00000225538.3	-	4	661	c.387C>T	c.(385-387)gaC>gaT	p.D129D		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	129					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TACAGCCACTGTCTTCCTTGC	0.657		NA											False	0	False	17:3807664	0
PURB	5814	broad.mit.edu	37	7	44924053	44924053	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:44924053C>T	ENST00000395699.2	-	1	907	c.895G>A	c.(895-897)Ggc>Agc	p.G299S		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	299					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						TCGCCGCCGCCGCTGCCCCCA	0.587		NA											False	0	True	7:44924053	0
CHD3	1107	broad.mit.edu	37	17	7807208	7807208	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:7807208G>A	ENST00000380358.4	+	24	3971	c.3970G>A	c.(3970-3972)Gac>Aac	p.D1324N	CHD3_ENST00000330494.7_Missense_Mutation_p.D1265N|CHD3_ENST00000358181.4_Missense_Mutation_p.D1265N	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1265					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCGGCTGTTGGACCGGAACCA	0.517		NA											False	0	False	17:7807208	0
NDUFA12	55967	broad.mit.edu	37	12	95397439	95397439	+	Silent	SNP	G	G	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:95397439G>T	ENST00000327772.2	-	1	107	c.18C>A	c.(16-18)gtC>gtA	p.V6V	NDUFA12_ENST00000547986.1_Silent_p.V6V|NDUFA12_ENST00000547157.1_Silent_p.V6V	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	6					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	CGCGTTTCAGGACCTGCACTA	0.647		NA											False	0	False	12:95397439	0
LRMP	4033	broad.mit.edu	37	12	25232195	25232195	+	Silent	SNP	C	C	T	rs114104872	by1000genomes	TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:25232195C>T	ENST00000354454.3	+	6	871	c.42C>T	c.(40-42)cgC>cgT	p.R14R	LRMP_ENST00000547044.1_Silent_p.R14R|LRMP_ENST00000548766.1_Silent_p.R14R	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	70					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTGTTGAACGCGTGTGTCCTG	0.373		NA											False	0	True	12:25232195	0
RPS6KA2	6196	broad.mit.edu	37	6	166844030	166844030	+	Missense_Mutation	SNP	T	T	G			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:166844030T>G	ENST00000510118.1	-	18	1907	c.1567A>C	c.(1567-1569)Atc>Ctc	p.I523L	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.I409L|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.I409L|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.I506L|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.I498L			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	498	Protein kinase 2.				axon guidance|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|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGCCGGAGGATGCGGTCCAGG	0.587		NA											False	0	False	6:166844030	0
LRP1B	53353	broad.mit.edu	37	2	141571360	141571360	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:141571360T>C	ENST00000389484.3	-	32	6196	c.5225A>G	c.(5224-5226)tAt>tGt	p.Y1742C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1742					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTTTCCACATAGTCTATCGA	0.348		NA								TSP Lung(27;0.18)			False	0	False	2:141571360	0
FOXR2	139628	broad.mit.edu	37	X	55650498	55650498	+	Silent	SNP	A	A	G			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chrX:55650498A>G	ENST00000339140.3	+	1	666	c.354A>G	c.(352-354)gaA>gaG	p.E118E		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	118					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAAAAGACGAAGGGTCTAACT	0.527		NA											False	0	True	X:55650498	0
ARHGEF12	23365	broad.mit.edu	37	11	120348235	120348235	+	Splice_Site	SNP	G	G	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr11:120348235G>T	ENST00000397843.2	+	36	3698	c.3532G>T	c.(3532-3534)Gac>Tac	p.D1178Y	ARHGEF12_ENST00000532993.1_Splice_Site_p.D1075Y|ARHGEF12_ENST00000356641.3_Splice_Site_p.D1159Y	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1178					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GCAGAGTCCAGGTACACTCTT	0.413		NA	T	MLL	AML								False	0	False	11:120348235	0
KCNA4	3739	broad.mit.edu	37	11	30033579	30033579	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr11:30033579C>T	ENST00000328224.6	-	2	1880	c.647G>A	c.(646-648)cGc>cAc	p.R216H		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	216						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ATACTCATTGCGCAAAGGGTC	0.478		NA											False	0	False	11:30033579	0
SIAH2	6478	broad.mit.edu	37	3	150460176	150460176	+	Missense_Mutation	SNP	G	G	C			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr3:150460176G>C	ENST00000312960.3	-	2	1254	c.727C>G	c.(727-729)Cag>Gag	p.Q243E		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	243	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AAAAACTGCTGGTGGCCTTCG	0.527		NA											False	0	False	3:150460176	0
OR2AK2	391191	broad.mit.edu	37	1	248129097	248129097	+	Missense_Mutation	SNP	T	T	G			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:248129097T>G	ENST00000366480.3	+	1	563	c.464T>G	c.(463-465)aTc>aGc	p.I155S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGCAAGAAGATCTGCTGCCTC	0.438		NA											False	0	False	1:248129097	0
OR4N2	390429	broad.mit.edu	37	14	20295937	20295937	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:20295937G>A	ENST00000568211.1	+	1	330	c.330G>A	c.(328-330)ggG>ggA	p.G110G	OR4N2_ENST00000315947.1_Silent_p.G110G			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGAGGAGGGGAGGGATTAC	0.522		NA											False	0	True	14:20295937	0
TUBB8P7	0	broad.mit.edu	37	16	90162379	90162379	+	RNA	SNP	A	A	G			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr16:90162379A>G	ENST00000564451.1	+	0	1732				TUBB8P7_ENST00000567960.1_RNA						NA											NA						TGGGAATAATACGGCCATCCA	0.522		NA											False	0	False	16:90162379	0
ZNF407	55628	broad.mit.edu	37	18	72347373	72347373	+	Silent	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr18:72347373C>T	ENST00000299687.5	+	1	4398	c.4398C>T	c.(4396-4398)gcC>gcT	p.A1466A	ZNF407_ENST00000577538.1_Silent_p.A1466A|ZNF407_ENST00000309902.6_Silent_p.A1466A|ZNF407_ENST00000582337.1_Silent_p.A1466A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGGCTAGTGCCGGCCACATGA	0.498		NA											False	0	False	18:72347373	0
CSMD3	114788	broad.mit.edu	37	8	113277800	113277800	+	Silent	SNP	T	T	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr8:113277800T>A	ENST00000297405.5	-	60	9772	c.9528A>T	c.(9526-9528)ccA>ccT	p.P3176P	CSMD3_ENST00000455883.2_Silent_p.P3007P|CSMD3_ENST00000352409.3_Silent_p.P3106P|CSMD3_ENST00000343508.3_Silent_p.P3136P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3176	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGGTATACCTGGGTCTCCAC	0.418		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	True	8:113277800	0
SFMBT2	57713	broad.mit.edu	37	10	7218087	7218087	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr10:7218087G>A	ENST00000361972.4	-	17	1939	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R617W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	617					regulation of transcription, DNA-dependent	nucleus		p.R617G(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCAGATGTCCGTACGATTTTG	0.468		NA											False	0	False	10:7218087	0
SCN9A	6335	broad.mit.edu	37	2	167133600	167133600	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:167133600C>T	ENST00000375387.4	-	16	3110	c.2770G>A	c.(2770-2772)Gtg>Atg	p.V924M	SCN9A_ENST00000409435.1_Missense_Mutation_p.V923M|SCN9A_ENST00000409672.1_Missense_Mutation_p.V912M|SCN9A_ENST00000303354.6_Missense_Mutation_p.V924M|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	923						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCACACAGCACGCGGAACACA	0.478		NA											False	0	False	2:167133600	0
HIST1H2BL	8340	broad.mit.edu	37	6	27775524	27775524	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:27775524C>T	ENST00000377401.2	-	1	185	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	54					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AGAAGAGATGCCGGTGTCGGG	0.582		NA											False	0	False	6:27775524	0
KANSL2	54934	broad.mit.edu	37	12	49075195	49075195	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:49075195T>C	ENST00000550347.1	-	1	813	c.770A>G	c.(769-771)aAt>aGt	p.N257S	KANSL2_ENST00000553086.1_Missense_Mutation_p.N74S|KANSL2_ENST00000420613.2_Missense_Mutation_p.N74S|KANSL2_ENST00000357861.3_5'UTR			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	74								p.N74S(2)			NA						TGGGGCAGCATTGGGACATCT	0.418		NA											False	0	False	12:49075195	0
HOXA11	3207	broad.mit.edu	37	7	27222632	27222632	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:27222632C>T	ENST00000006015.3	-	2	796	c.725G>A	c.(724-726)cGc>cAc	p.R242H		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	242					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GCGCTTTTTGCGGGTGCGTTG	0.582		NA	T	NUP98	CML								False	0	True	7:27222632	0
SEMA3E	9723	broad.mit.edu	37	7	83014659	83014659	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:83014659G>A	ENST00000307792.3	-	16	2293	c.1826C>T	c.(1825-1827)gCg>gTg	p.A609V	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A549V	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	609	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATAACTTTCGCTTGTAAAGA	0.398		NA											False	0	False	7:83014659	0
HCRTR1	3061	broad.mit.edu	37	1	32087188	32087188	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:32087188C>T	ENST00000403528.2	+	6	1118	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	HCRTR1_ENST00000373705.1_Missense_Mutation_p.R245C|HCRTR1_ENST00000373706.5_Missense_Mutation_p.R245C|HCRTR1_ENST00000468521.1_3'UTR	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	245					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GCTCTGGGGCCGCCAGGTGAG	0.597		NA											False	0	False	1:32087188	0
PAPLN	89932	broad.mit.edu	37	14	73733472	73733472	+	Missense_Mutation	SNP	C	C	G			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:73733472C>G	ENST00000427855.1	+	25	3535	c.3433C>G	c.(3433-3435)Cca>Gca	p.P1145A	PAPLN_ENST00000340738.5_Missense_Mutation_p.P1118A|PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000555445.1_Missense_Mutation_p.P1129A|PAPLN_ENST00000554301.1_Missense_Mutation_p.P1145A			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1145	Ig-like C2-type 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TGTGACAGTGCCAGAGGGTGA	0.547		NA											False	0	False	14:73733472	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433		NA											False	0	False	2:112608394	0
STAT6	6778	broad.mit.edu	37	12	57492807	57492807	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:57492807G>A	ENST00000300134.3	-	17	2271	c.1946C>T	c.(1945-1947)aCc>aTc	p.T649I	STAT6_ENST00000454075.3_Missense_Mutation_p.T649I|STAT6_ENST00000537215.2_Missense_Mutation_p.T539I|STAT6_ENST00000556155.1_Missense_Mutation_p.T649I|STAT6_ENST00000543873.2_Missense_Mutation_p.T649I|STAT6_ENST00000538913.2_Missense_Mutation_p.T539I	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	649					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCTTTCCACGGTCATCTTGAT	0.532		NA											False	0	False	12:57492807	0
CD86	942	broad.mit.edu	37	3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000493101.1_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.R79H|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	85	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TATATGGGCCGCACAAGTTTT	0.423		NA											False	0	False	3:121822548	0
DDX47	51202	broad.mit.edu	37	12	12974195	12974195	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:12974195G>T	ENST00000358007.3	+	3	257	c.235G>T	c.(235-237)Gct>Tct	p.A79S	DDX47_ENST00000392155.2_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.A79S	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	79	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AGGCGCCTTTGCTTTGCCCAT	0.488		NA											False	0	True	12:12974195	0
CCDC38	120935	broad.mit.edu	37	12	96292480	96292480	+	Silent	SNP	G	G	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:96292480G>T	ENST00000344280.3	-	6	956	c.399C>A	c.(397-399)atC>atA	p.I133I	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	133										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAAACTTTTTGATTGTGTTTC	0.373		NA											False	0	True	12:96292480	0
NOTCH1	4851	broad.mit.edu	37	9	139414008	139414008	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr9:139414008C>T	ENST00000277541.6	-	5	827	c.752G>A	c.(751-753)gGc>gAc	p.G251D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	251	EGF-like 6.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACAGTTCTGGCCGGTGAAGCC	0.622		NA	"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			False	0	False	9:139414008	0
CYP3A43	64816	broad.mit.edu	37	7	99454485	99454485	+	Silent	SNP	C	C	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:99454485C>A	ENST00000354829.2	+	9	931	c.828C>A	c.(826-828)atC>atA	p.I276I	CYP3A43_ENST00000312017.5_Silent_p.I276I|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Silent_p.I136I|CYP3A43_ENST00000417625.1_Silent_p.I166I|CYP3A43_ENST00000444905.1_Silent_p.I23I|CYP3A43_ENST00000222382.5_Silent_p.I276I|CYP3A43_ENST00000415413.1_Silent_p.I65I	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	276			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)	AACAGATGATCGACTCCCAGA	0.433		NA											False	0	False	7:99454485	0
ZNF689	115509	broad.mit.edu	37	16	30616626	30616626	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr16:30616626G>A	ENST00000287461.3	-	3	799	c.462C>T	c.(460-462)tgC>tgT	p.C154C	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			AGGTACAGCCGCAGTCAGGGC	0.627		NA											False	0	False	16:30616626	0
CRYGD	1421	broad.mit.edu	37	2	208988981	208988981	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:208988981G>A	ENST00000264376.4	-	2	134	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	36	Beta/gamma crystallin 'Greek key' 1.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTCCACGCGCGCCGAGTTGCA	0.652		NA											False	0	True	2:208988981	0
NFRKB	4798	broad.mit.edu	37	11	129739654	129739654	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr11:129739654C>T	ENST00000446488.3	-	23	3369	c.3266G>A	c.(3265-3267)cGc>cAc	p.R1089H	NFRKB_ENST00000524746.1_Missense_Mutation_p.R1089H|NFRKB_ENST00000524794.1_Missense_Mutation_p.R1114H|NFRKB_ENST00000304521.5_Missense_Mutation_p.R1089H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1089					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CTGCACGATGCGGATCGTGGC	0.597		NA											False	0	False	11:129739654	0
KAT6A	7994	broad.mit.edu	37	8	41791386	41791386	+	Missense_Mutation	SNP	G	G	A	rs148148486		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr8:41791386G>A	ENST00000396930.3	-	18	4895	c.4352C>T	c.(4351-4353)gCg>gTg	p.A1451V	KAT6A_ENST00000265713.2_Missense_Mutation_p.A1451V|KAT6A_ENST00000406337.1_Missense_Mutation_p.A1451V	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1451					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding				NA						CTGACACGCCGCAAGAGTTTC	0.527		NA											False	0	False	8:41791386	0
BPTF	2186	broad.mit.edu	37	17	65862758	65862758	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:65862758A>G	ENST00000321892.4	+	3	1676	c.1615A>G	c.(1615-1617)Aat>Gat	p.N539D	BPTF_ENST00000306378.6_Missense_Mutation_p.N539D|BPTF_ENST00000335221.5_Missense_Mutation_p.N539D|BPTF_ENST00000424123.3_Missense_Mutation_p.N400D			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	539					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGACCTGACCAATAAGGCTCG	0.428		NA											False	0	False	17:65862758	0
VPS13B	157680	broad.mit.edu	37	8	100493941	100493941	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr8:100493941C>A	ENST00000395996.1	+	25	3892	c.3781C>A	c.(3781-3783)Cct>Act	p.P1261T	VPS13B_ENST00000357162.2_Missense_Mutation_p.P1261T|VPS13B_ENST00000358544.2_Missense_Mutation_p.P1261T			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1261					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGGCCTGTTCCTACTTCTCC	0.468		NA											False	0	False	8:100493941	0
OBSCN	84033	broad.mit.edu	37	1	228506686	228506686	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:228506686C>T	ENST00000570156.2	+	65	17178	c.17104C>T	c.(17104-17106)Cgg>Tgg	p.R5702W	OBSCN_ENST00000366709.4_Missense_Mutation_p.R1864W|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4745W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2379W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4745W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4745	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCCTGGCTCGGAAACGTCG	0.687		NA											False	0	False	1:228506686	0
COL5A2	1290	broad.mit.edu	37	2	189904090	189904090	+	Missense_Mutation	SNP	T	T	G			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:189904090T>G	ENST00000374866.3	-	51	4107	c.3833A>C	c.(3832-3834)cAg>cCg	p.Q1278P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1278	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGTTTCAATCTGACTACTGAG	0.522		NA											False	0	False	2:189904090	0
PRRC2C	23215	broad.mit.edu	37	1	171546748	171546748	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:171546748G>A	ENST00000367742.3	+	26	7373	c.7131G>A	c.(7129-7131)ccG>ccA	p.P2377P	PRRC2C_ENST00000392078.3_Silent_p.P2377P|PRRC2C_ENST00000426496.2_Silent_p.P2310P|PRRC2C_ENST00000338920.4_Silent_p.P2375P			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2375	Gln-rich.						protein C-terminus binding				NA						AACAGAATCCGCAAGTTTATG	0.393		NA											False	0	False	1:171546748	0
SCARA5	286133	broad.mit.edu	37	8	27824044	27824044	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr8:27824044C>T	ENST00000354914.3	-	3	613	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	SCARA5_ENST00000524352.1_Missense_Mutation_p.R43Q|SCARA5_ENST00000380385.2_Missense_Mutation_p.R43Q|SCARA5_ENST00000518030.1_Intron|SCARA5_ENST00000301906.4_Intron	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	43					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCTTGCCCGCCGTTTGTGACA	0.522		NA											False	0	False	8:27824044	0
TNFSF9	8744	broad.mit.edu	37	19	6534843	6534843	+	Silent	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr19:6534843C>T	ENST00000245817.3	+	3	569	c.531C>T	c.(529-531)gcC>gcT	p.A177A		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	177					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CTGGGGCCGCCGCCCTGGCTT	0.692		NA											False	0	True	19:6534843	0
NRXN1	9378	broad.mit.edu	37	2	51254893	51254893	+	Silent	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:51254893C>T	ENST00000404971.1	-	2	1858	c.519G>A	c.(517-519)tcG>tcA	p.S173S	NRXN1_ENST00000406859.3_Silent_p.S173S|NRXN1_ENST00000405472.3_Silent_p.S173S|NRXN1_ENST00000401669.2_Silent_p.S173S|NRXN1_ENST00000405581.1_Silent_p.S173S|NRXN1_ENST00000402717.3_Silent_p.S173S|NRXN1_ENST00000406316.2_Silent_p.S173S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	173	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTCCCTCACCGAGGCCAGGG	0.672		NA											False	0	False	2:51254893	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
KLHL4	0	broad.mit.edu	37	X	86887279	86887279	+	Missense_Mutation	SNP	G	G	A	rs146910003		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chrX:86887279G>A	ENST00000373119.4	+	7	1539	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	KLHL4_ENST00000373114.4_Missense_Mutation_p.R465H	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	465						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.R465H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATGAATGGCCGTAGGCTTCAA	0.388		NA											False	0	False	X:86887279	0
MAK	4117	broad.mit.edu	37	6	10802169	10802169	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:10802169C>T	ENST00000313243.2	-	8	1169	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	MAK_ENST00000536370.1_Missense_Mutation_p.E263K|MAK_ENST00000354489.2_Missense_Mutation_p.E263K|MAK_ENST00000538030.1_Missense_Mutation_p.E263K|MAK_ENST00000474039.1_Missense_Mutation_p.E263K|RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	263	Protein kinase.				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)				TTCAACATTTCGGTCATGAGC	0.408		NA									OREG0017187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	6:10802169	0
RRN3P2	0	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111										NA								p.L368P(6)			NA						TTGCAGTATCTTCAGAGTCTG	0.328		NA											False	0	False	16:29110438	0
ITGA2	3673	broad.mit.edu	37	5	52360796	52360796	+	Silent	SNP	C	C	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr5:52360796C>A	ENST00000296585.5	+	14	1800	c.1657C>A	c.(1657-1659)Cga>Aga	p.R553R		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	553					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAAAACACTCGATTTGGTTC	0.423		NA											False	0	False	5:52360796	0
DIDO1	11083	broad.mit.edu	37	20	61511162	61511162	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr20:61511162G>A	ENST00000266070.4	-	16	6471	c.6146C>T	c.(6145-6147)gCg>gTg	p.A2049V	DIDO1_ENST00000395343.1_Missense_Mutation_p.A2049V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2049					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGAGGAGAGCGCGGAGGGCGG	0.716		NA											False	0	False	20:61511162	0
PIK3C2B	5287	broad.mit.edu	37	1	204438176	204438176	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:204438176G>A	ENST00000367187.3	-	3	1311	c.755C>T	c.(754-756)gCc>gTc	p.A252V	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A252V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	252	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCCCCTGGTGGCATCCCGCAA	0.577		NA											False	0	False	1:204438176	0
DUSP16	80824	broad.mit.edu	37	12	12639992	12639992	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:12639992G>A	ENST00000228862.2	-	5	1292	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	RP11-253I19.3_ENST00000544086.1_lincRNA|DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	221					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TCCAACCACGGCAAAATTTTC	0.458		NA											False	0	False	12:12639992	0
NID2	22795	broad.mit.edu	37	14	52505475	52505475	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:52505475G>A	ENST00000216286.5	-	9	2246	c.2247C>T	c.(2245-2247)ggC>ggT	p.G749G	NID2_ENST00000541773.1_Silent_p.G696G	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	749	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTTTGACCGGGCCAATTTGAT	0.438		NA											False	0	True	14:52505475	0
COL20A1	57642	broad.mit.edu	37	20	61950533	61950533	+	Silent	SNP	C	C	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr20:61950533C>A	ENST00000422202.1	+	21	2876	c.2808C>A	c.(2806-2808)ctC>ctA	p.L936L	COL20A1_ENST00000358894.6_Silent_p.L929L|COL20A1_ENST00000435874.1_Silent_p.L936L|COL20A1_ENST00000326996.6_Silent_p.L929L			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	929	TSP N-terminal.				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)					TCCAGCCCCTCCTTGGGGTTC	0.667		NA											False	0	False	20:61950533	0
ADAMTSL1	92949	broad.mit.edu	37	9	18706844	18706844	+	Silent	SNP	C	C	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr9:18706844C>T	ENST00000380548.4	+	14	2013	c.1674C>T	c.(1672-1674)tcC>tcT	p.S558S	ADAMTSL1_ENST00000276935.6_Silent_p.S558S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	558	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTCTCAGTCCGTGGCTGACC	0.602		NA											False	0	False	9:18706844	0
ARID1B	57492	broad.mit.edu	37	6	157488191	157488191	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:157488191G>A	ENST00000346085.5	+	10	2898	c.2897G>A	c.(2896-2898)gGc>gAc	p.G966D	ARID1B_ENST00000350026.5_Missense_Mutation_p.G953D|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Missense_Mutation_p.G895D|ARID1B_ENST00000367148.1_Missense_Mutation_p.G953D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	953					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGTTTCCCCGGCATGAACCAG	0.537		NA											False	0	False	6:157488191	0
SLC17A3	10786	broad.mit.edu	37	6	25845701	25845701	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:25845701G>A	ENST00000397060.4	-	12	1515	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	SLC17A3_ENST00000360657.3_Missense_Mutation_p.A391V|SLC17A3_ENST00000361703.6_Missense_Mutation_p.A391V	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	391					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CAGGTTAACGGCAAACAGCAA	0.413		NA											False	0	False	6:25845701	0
PTPRN2	5799	broad.mit.edu	37	7	157929382	157929382	+	Missense_Mutation	SNP	C	C	T	rs144837405		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:157929382C>T	ENST00000389413.3	-	8	1241	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R	PTPRN2_ENST00000389416.4_Missense_Mutation_p.G363R|PTPRN2_ENST00000389418.4_Missense_Mutation_p.G380R|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G403R|PTPRN2_ENST00000409483.1_Missense_Mutation_p.G342R	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	380						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCCTGCACTCCGTCATCTGTA	0.448		NA											False	0	False	7:157929382	0
EIF5	1983	broad.mit.edu	37	14	103805083	103805083	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:103805083G>T	ENST00000216554.3	+	8	1273	c.597G>T	c.(595-597)gaG>gaT	p.E199D	EIF5_ENST00000392715.2_Missense_Mutation_p.E199D|EIF5_ENST00000558506.1_Missense_Mutation_p.E199D	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	199	Asp/Glu-rich (highly acidic).				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AAGAAGAGGAGGATGATGACT	0.413		NA											False	0	False	14:103805083	0
GDF3	9573	broad.mit.edu	37	12	7843026	7843026	+	Silent	SNP	G	G	A			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:7843026G>A	ENST00000329913.3	-	2	590	c.543C>T	c.(541-543)ttC>ttT	p.F181F		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	181					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCAGCAGGTTGAAGTGAACAG	0.507		NA											False	0	False	12:7843026	0
