Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR1I1	126370	broad.mit.edu	37	19	15198440	15198440	+	Silent	SNP	C	C	T	rs147792989	byFrequency	TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:15198440C>T	ENST00000209540.2	+	1	650	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S188S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TGAAGCTCTCCGGCTCAGACA	0.547000													50	36					0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59074376	59074376	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:59074376C>A	ENST00000215057.2	-	6	1828	c.1268G>T	c.(1267-1269)cGc>cTc	p.R423L	MZF1_ENST00000599369.1_Missense_Mutation_p.R423L|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	423					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCGCGCGCTGCGCACGAAGCC	0.687000													18	48					1.01871e-10	1.15537e-10	1	1	0
KIAA0319	9856	broad.mit.edu	37	6	24596359	24596359	+	Silent	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:24596359C>T	ENST00000535378.1	-	4	1158	c.516G>A	c.(514-516)gaG>gaA	p.E172E	KIAA0319_ENST00000537886.1_Silent_p.E181E|KIAA0319_ENST00000378214.3_Silent_p.E181E|KIAA0319_ENST00000543707.1_Silent_p.E181E|KIAA0319_ENST00000430948.2_Silent_p.E136E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	181					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTCCGTGTACTCGGCACTCC	0.637000													31	31					0	0	1	0	0
RASL10B	91608	broad.mit.edu	37	17	34062267	34062267	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:34062267C>T	ENST00000268864.3	+	2	441	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	22	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCCATCGTGCGCCAGTTCTT	0.672000													31	42					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173830397	173830397	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:173830397G>T	ENST00000264111.6	+	9	990	c.803G>T	c.(802-804)gGt>gTt	p.G268V	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G116V|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G269V|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.G269V|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G125V|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G116V|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G98V|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.G49V|RAPGEF4_ENST00000473043.1_3'UTR			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	269	DEP.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTAGAAGATGGTGTTCTCAAC	0.502000													4	85					0.00909568	0.00929559	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178952084	178952084	+	Missense_Mutation	SNP	C	C	T	rs121913281		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:178952084C>T	ENST00000263967.3	+	21	3296	c.3139C>T	c.(3139-3141)Cat>Tat	p.H1047Y		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047Y(37)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAATGATGCACATCATGGTGG	0.373000	H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_OVARY)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			36	40					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101648744	101648744	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:101648744T>C	ENST00000409318.1	-	11	2052	c.1922A>G	c.(1921-1923)aAc>aGc	p.N641S	TBC1D8_ENST00000376840.4_Missense_Mutation_p.N626S	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	626	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CACTCGGTGGTTGAAGTAATC	0.532000													28	44					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	32983377	32983377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:32983377C>T	ENST00000317907.4	+	13	1702	c.1471C>T	c.(1471-1473)Caa>Taa	p.Q491*		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	491							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AATCCTTAGACAAGAGCTGGA	0.383000													4	87					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11170774	11170774	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:11170774C>T	ENST00000358026.2	+	35	5202	c.4918C>T	c.(4918-4920)Cgg>Tgg	p.R1640W	SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1608W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1578W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1608W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1574W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1578W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1577W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1575W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1577W	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1608					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCACAGGACCGGCTGAAGGG	0.652000			"""F, N, Mis"""		NSCLC								3	7					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057258	72057258	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:72057258T>C	ENST00000378743.3	-	1	491	c.133A>G	c.(133-135)Agc>Ggc	p.S45G	ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S45G|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S45G|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCCGCCGCTGCTGCTGCTG	0.637000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	145					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1																						CAGACTAAAGGCAAACAAGGA	0.498000													5	115					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112686937	112686937	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:112686937G>T	ENST00000295408.4	+	2	559	c.302G>T	c.(301-303)gGa>gTa	p.G101V	MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Missense_Mutation_p.G101V			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	101	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G101V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CACACAGTTGGACACATAATA	0.448000													26	51					1.26454e-06	1.38356e-06	1	1	0
HSPA6	3310	broad.mit.edu	37	1	161495873	161495873	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:161495873G>C	ENST00000309758.4	+	1	1838	c.1425G>C	c.(1423-1425)caG>caC	p.Q475H		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	475					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAGTCCCCCAGATAGAGGTGA	0.537000													16	50					0	0	1	0	0
CYP2B7P1	0	broad.mit.edu	37	19	41450388	41450388	+	RNA	SNP	C	C	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:41450388C>G	ENST00000599198.1	+	0	1171					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CATTGTCACCCAACACACCAG	0.537000													15	19					0	0	1	0	0
IP6K1	9807	broad.mit.edu	37	3	49764567	49764567	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:49764567G>C	ENST00000321599.4	-	6	1615	c.1314C>G	c.(1312-1314)gaC>gaG	p.D438E	IP6K1_ENST00000395238.1_Missense_Mutation_p.D273E|IP6K1_ENST00000468463.1_3'UTR|IP6K1_ENST00000460540.1_Missense_Mutation_p.D273E	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	438					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	p.D438D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						ACTGGTTCTCGTCCCGCATCT	0.587000													31	28					0	0	1	0	0
ARFRP1	10139	broad.mit.edu	37	20	62331872	62331872	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr20:62331872G>A	ENST00000359715.4	-	7	1095	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	ARFRP1_ENST00000485858.1_5'UTR|ARFRP1_ENST00000324228.2_Missense_Mutation_p.R177C|ARFRP1_ENST00000440854.1_3'UTR			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	177					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			ATGCCCTCGCGCACCCCTTTG	0.697000													12	184					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2540796	2540796	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:2540796G>A	ENST00000288709.6	-	6	730	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	MMEL1_ENST00000378412.3_Missense_Mutation_p.R173C|MMEL1_ENST00000502556.1_Intron	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	173					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ATGCAGGAGCGGTACAGCGTC	0.687000													9	12					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167381351	167381351	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:167381351A>C	ENST00000367862.5	+	14	1913	c.1678A>C	c.(1678-1680)Acc>Ccc	p.T560P	POU2F1_ENST00000367866.2_Missense_Mutation_p.T571P|POU2F1_ENST00000541643.3_Missense_Mutation_p.T548P|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.T508P|POU2F1_ENST00000420254.3_Missense_Mutation_p.T548P	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	548					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CACAACACAGACCACCTCCAC	0.602000													16	59					0	0	1	0	0
GTF3A	2971	broad.mit.edu	37	13	28009312	28009312	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr13:28009312A>T	ENST00000381140.4	+	8	1110	c.916A>T	c.(916-918)Aag>Tag	p.K306*	GTF3A_ENST00000470606.1_3'UTR	NM_002097.2	NP_002088.2	Q92664	TF3A_HUMAN	general transcription factor IIIA	306					regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		TCCTGACAAGAAGAAAATGAA	0.338000													29	23					0	0	1	0	0
CD80	941	broad.mit.edu	37	3	119276562	119276562	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:119276562C>T	ENST00000264246.3	-	2	376	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	CD80_ENST00000383668.3_Missense_Mutation_p.R5Q|CD80_ENST00000478182.1_Missense_Mutation_p.R5Q|CD80_ENST00000383669.3_Missense_Mutation_p.R5Q	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	5					interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	TCCCTGCCTCCGTGTGTGGCC	0.498000													9	17					0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9676126	9676126	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:9676126C>T	ENST00000330255.4	-	5	700	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	DHRS7C_ENST00000571134.1_Missense_Mutation_p.V229M	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	230						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCTGGATACACGTGGTACGAC	0.582000													32	7					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24566850	24566850	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:24566850C>A	ENST00000535378.1	-	15	2882	c.2240G>T	c.(2239-2241)cGg>cTg	p.R747L	KIAA0319_ENST00000537886.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.R756L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R711L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	756	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGGCCATCCCGGATCCACAG	0.463000													10	78					6.42651e-13	7.37859e-13	1	1	0
MED4	29079	broad.mit.edu	37	13	48654103	48654103	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr13:48654103G>A	ENST00000258648.2	-	6	542	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Missense_Mutation_p.R127W	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	173					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		TAGGGTCTCCGGGGGTCCCCT	0.393000													14	28					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152554983	152554983	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:152554983G>A	ENST00000367255.5	-	112	21246	c.20645C>T	c.(20644-20646)tCg>tTg	p.S6882L	SYNE1_ENST00000341594.5_Missense_Mutation_p.S6494L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6882L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6811L|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6811L|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1406L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6882					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCAATGCGCGACAGCTCAGA	0.512000										HNSCC(10;0.0054)			24	38					0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40253875	40253875	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:40253875G>C	ENST00000251642.3	-	14	2163	c.1941C>G	c.(1939-1941)atC>atG	p.I647M		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	647	RNA-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTTGGCCTGGATCCGCCCCT	0.592000											OREG0024418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	60					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29879422	29879422	+	Silent	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:29879422G>A	ENST00000310624.6	+	2	975	c.942G>A	c.(940-942)gcG>gcA	p.A314A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	314	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGCGCTCAGCGCAGGAGGAGA	0.612000													49	152					0	0	1	0	0
MSRB3	253827	broad.mit.edu	37	12	65857094	65857094	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:65857094G>A	ENST00000308259.5	+	7	824	c.550G>A	c.(550-552)Gag>Aag	p.E184K	MSRB3_ENST00000535664.1_Missense_Mutation_p.E184K|MSRB3_ENST00000355192.3_Missense_Mutation_p.E191K	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	191					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		AGACAAAGCGGAGCTCTAGAG	0.448000													18	31					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66082813	66082813	+	Silent	SNP	A	A	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr11:66082813A>G	ENST00000311330.3	-	1	1702	c.1686T>C	c.(1684-1686)ggT>ggC	p.G562G	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	562	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GTAGCTGGGCACCGAGGGTGG	0.622000													47	54					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179195869	179195869	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:179195869G>A	ENST00000292599.3	+	3	2013	c.1750G>A	c.(1750-1752)Gtc>Atc	p.V584I	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	584					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTTCCAGTGTCCCTGTGCA	0.562000													67	149					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269569	150269569	+	Silent	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:150269569C>A	ENST00000255945.2	+	3	586	c.411C>A	c.(409-411)atC>atA	p.I137I	GIMAP4_ENST00000461940.1_Silent_p.I151I|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	137							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAGAAGATCCTGAAAATGT	0.483000													17	44					1.15088e-07	1.27419e-07	1	1	0
MAZ	4150	broad.mit.edu	37	16	29821543	29821543	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr16:29821543A>T	ENST00000322945.6	+	5	1590	c.1425A>T	c.(1423-1425)caA>caT	p.Q475H	MAZ_ENST00000566906.2_Missense_Mutation_p.T130S|MAZ_ENST00000545521.1_Missense_Mutation_p.Q452H|MAZ_ENST00000568544.1_Missense_Mutation_p.Q76H|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000563402.1_Missense_Mutation_p.T132S|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000562337.1_Missense_Mutation_p.Q170H	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	475					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCCCTCCCAACCCTGGTGAG	0.637000													15	6					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14741318	14741318	+	Silent	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:14741318G>A	ENST00000403951.2	-	7	923	c.504C>T	c.(502-504)ttC>ttT	p.F168F	DGKB_ENST00000407950.1_Silent_p.F161F|DGKB_ENST00000406247.3_Silent_p.F168F|DGKB_ENST00000402815.1_Silent_p.F168F|DGKB_ENST00000399322.3_Silent_p.F168F|DGKB_ENST00000258767.5_Silent_p.F168F|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Silent_p.F161F			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	168	EF-hand 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	AGCTGTCCAGGAAGCCATTCC	0.328000													8	25					0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83826061	83826061	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr4:83826061G>A	ENST00000302236.5	+	2	304	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	85							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AAAAGGAGCTGTGCCTTCTGT	0.363000													8	17					0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59074528	59074528	+	Silent	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:59074528C>T	ENST00000215057.2	-	6	1676	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	MZF1_ENST00000599369.1_Silent_p.L372L|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_Silent_p.*291*|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	372					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TCTGGTGCCTCAGCAGGTTGC	0.687000													22	43					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:37881332G>A	ENST00000406381.2	+	23	2944	c.2434G>A	c.(2434-2436)Gta>Ata	p.V812I	ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V842I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	842	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V842I(6)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			43	57					0	0	1	0	0
RTCB	51493	broad.mit.edu	37	22	32784075	32784075	+	Silent	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:32784075G>T	ENST00000216038.5	-	12	1520	c.1422C>A	c.(1420-1422)tcC>tcA	p.S474S	RTCB_ENST00000451746.2_3'UTR	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		CATTCTTATAGGACTCAGGAG	0.403000													3	18					0.00024832	0.000265446	1	1	0
MAP3K4	4216	broad.mit.edu	37	6	161530808	161530808	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:161530808G>T	ENST00000392142.4	+	23	4406	c.4258G>T	c.(4258-4260)Gag>Tag	p.E1420*	MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.E1366*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.E1370*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.E1416*	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1420	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CATCTTCATGGAGTACTGCGA	0.443000													35	33					9.04072e-19	1.05098e-18	1	1	0
CCL1	6346	broad.mit.edu	37	17	32687649	32687649	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:32687649C>T	ENST00000225842.3	-	3	289	c.220G>A	c.(220-222)Gcc>Acc	p.A74T		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	74					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GTGTCCAAGGCGCAGGCCTCT	0.522000													56	89					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17488843	17488843	+	Silent	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:17488843C>T	ENST00000400588.1	-	1	269	c.162G>A	c.(160-162)aaG>aaA	p.K54K	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	54	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGAGCCTCAGCTTCTTCTCGG	0.697000													8	13					0	0	1	0	0
FBXW7	0	broad.mit.edu	37	4	153251907	153251907	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr4:153251907G>A	ENST00000281708.4	-	7	2328	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R287*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R367*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R367*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R191*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R249*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	367					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R367*(10)|p.R287*(3)|p.R128*(3)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTTCTCCTCGCCTCCAGTTA	0.388000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								17	33					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			38	7					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46329516	46329516	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:46329516G>A	ENST00000245934.7	-	17	2541	c.2297C>T	c.(2296-2298)cCg>cTg	p.P766L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	766					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGCACAGACGGTGGGTTGGG	0.572000													6	17					0	0	1	0	0
LMO3	55885	broad.mit.edu	37	12	16704161	16704161	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:16704161G>A	ENST00000320122.6	-	4	955	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	LMO3_ENST00000537304.1_Missense_Mutation_p.R145C|LMO3_ENST00000541846.1_Missense_Mutation_p.R145C|LMO3_ENST00000447609.1_Missense_Mutation_p.R145C|LMO3_ENST00000541295.1_Missense_Mutation_p.R163C|LMO3_ENST00000441439.2_Missense_Mutation_p.R145C|LMO3_ENST00000354662.1_Missense_Mutation_p.R145C|LMO3_ENST00000540848.1_Missense_Mutation_p.R145C|LMO3_ENST00000534946.1_Missense_Mutation_p.R145C|LMO3_ENST00000535535.1_Missense_Mutation_p.R145C|LMO3_ENST00000261169.6_Missense_Mutation_p.R156C|LMO3_ENST00000540445.1_Missense_Mutation_p.R167C	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				ATAGATCAGCGAACCTGGGGT	0.378000													28	12					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188289	7188289	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:7188289C>A	ENST00000486284.1	+	2	944	c.670C>A	c.(670-672)Ctc>Atc	p.L224I	GRM7_ENST00000389336.4_Missense_Mutation_p.L224I|GRM7_ENST00000402647.2_Missense_Mutation_p.L224I|GRM7_ENST00000357716.4_Missense_Mutation_p.L224I|GRM7_ENST00000403881.1_Missense_Mutation_p.L224I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	224					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGTGTCTACCCTCGCATCGGA	0.522000													8	48					0.00621372	0.00649298	1	1	0
ABCA4	24	broad.mit.edu	37	1	94528265	94528265	+	Missense_Mutation	SNP	C	C	T	rs61749410		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:94528265C>T	ENST00000370225.3	-	13	1891	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.R602Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	602			R -> Q (in STGD1).|R -> W (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCAGATGTACCGGAAATCTTC	0.557000													23	24					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70607151	70607151	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:70607151A>G	ENST00000449580.1	+	15	2315	c.2264A>G	c.(2263-2265)cAt>cGt	p.H755R	TAF1_ENST00000276072.3_Missense_Mutation_p.H776R|TAF1_ENST00000423759.1_Missense_Mutation_p.H776R|TAF1_ENST00000373790.4_Missense_Mutation_p.H755R			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	755					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATTTATCTTCATAAGATGCCA	0.373000													67	13					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6506275	6506275	+	Splice_Site	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr10:6506275G>A	ENST00000263125.5	-	13	1544	c.1445_splice	c.e13+1	p.T482_splice	PRKCQ_ENST00000539722.1_Splice_Site_p.T357_splice|PRKCQ_ENST00000397176.2_Splice_Site_p.T482_splice	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	482	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AGCCTCTTACGTCGCTCTGGA	0.458000													175	210					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48603954	48603954	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:48603954C>G	ENST00000328333.8	-	112	8454	c.8347G>C	c.(8347-8349)Gct>Cct	p.A2783P	COL7A1_ENST00000454817.1_Missense_Mutation_p.A2751P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2783	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCAGTGCAGCTTCTCCCTTC	0.672000													7	106					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71743757	71743757	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:71743757A>G	ENST00000395275.2	-	3	546	c.158T>C	c.(157-159)tTg>tCg	p.L53S	CALN1_ENST00000431984.1_Missense_Mutation_p.L11S|CALN1_ENST00000395276.2_Missense_Mutation_p.L11S|CALN1_ENST00000405452.2_Missense_Mutation_p.L11S|CALN1_ENST00000412588.1_Missense_Mutation_p.L53S|CALN1_ENST00000329008.5_Missense_Mutation_p.L11S	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	11	EF-hand 1.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCCCTTGTACAACAAGCCGGC	0.522000													12	27					0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74137476	74137476	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:74137476T>C	ENST00000389156.4	-	2	116	c.26A>G	c.(25-27)gAa>gGa	p.E9G	FAM169A_ENST00000510496.1_Missense_Mutation_p.E9G|FAM169A_ENST00000380515.3_Missense_Mutation_p.E9G	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	9										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GCTGCAATTTTCCAGCATATC	0.378000													10	41					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37049341	37049341	+	Missense_Mutation	SNP	C	C	T	rs80358376		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:37049341C>T	ENST00000282516.8	+	40	7391	c.6892C>T	c.(6892-6894)Cgc>Tgc	p.R2298C	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2298C	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2298			R -> C (in CDLS1).|R -> H (in CDLS1).		brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GTCAAGTGTACGCCACTTTGC	0.413000													21	134					0	0	1	0	0
VPS53	55275	broad.mit.edu	37	17	556625	556625	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:556625C>T	ENST00000437048.2	-	7	660	c.514G>A	c.(514-516)Gga>Aga	p.G172R	VPS53_ENST00000574029.1_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.G172R|VPS53_ENST00000291074.5_Missense_Mutation_p.G143R|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000576149.1_Intron	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	172					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCAACTTCTCCGTATTGTCTT	0.458000													21	26					0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127670549	127670549	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:127670549C>G	ENST00000249363.3	-	2	402	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	49	LRRNT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CACGAGCAGACGGAGGGGCAG	0.647000													5	126					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128757879	128757879	+	Splice_Site	SNP	A	A	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:128757879A>C	ENST00000357702.5	-	8	1227		c.e8+1		SAP130_ENST00000259234.6_Splice_Site|SAP130_ENST00000259235.3_Splice_Site	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa						histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTTTGGTTTTACCTGAGCCAT	0.483000													13	51					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78346514	78346514	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:78346514C>T	ENST00000582970.1	+	48	12874	c.12731C>T	c.(12730-12732)tCg>tTg	p.S4244L	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.S4293L|RNF213_ENST00000336301.6_Missense_Mutation_p.S2317L|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	280										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)			GATTTCCTCTCGGAGCCTGAG	0.557000													23	26					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20107496	20107496	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr8:20107496C>T	ENST00000381569.1	-	4	1885	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	LZTS1_ENST00000522290.1_Intron|LZTS1_ENST00000265801.6_Missense_Mutation_p.E510K			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	510					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCCGCAGCTCGGCCCGCAGC	0.701000													36	13					0	0	1	0	0
SNRPA	6626	broad.mit.edu	37	19	41265493	41265493	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:41265493G>A	ENST00000243563.3	+	3	954	c.404G>A	c.(403-405)gGg>gAg	p.G135E	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	135						nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCGTGGTGGGGGCTGTCCAG	0.682000													31	25					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911930	101911930	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:101911930G>T	ENST00000537097.1	+	6	3902	c.3089G>T	c.(3088-3090)tGt>tTt	p.C1030F	GPRASP1_ENST00000415986.1_Missense_Mutation_p.C1030F|GPRASP1_ENST00000444152.1_Missense_Mutation_p.C1030F|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.C1030F	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1030	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGTCCACGTGTTCAGTTGAA	0.562000													4	131					1	1	1	1	0
EXO1	9156	broad.mit.edu	37	1	242042601	242042601	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:242042601G>C	ENST00000366548.3	+	13	2658	c.2065G>C	c.(2065-2067)Gca>Cca	p.A689P	EXO1_ENST00000348581.5_Missense_Mutation_p.A689P|EXO1_ENST00000518483.1_Missense_Mutation_p.A689P	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	689	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAGTTCAAATGCATCAAAGCT	0.413000								Editing and processing nucleases					17	22					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7214029	7214029	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr10:7214029G>A	ENST00000361972.4	-	19	2333	c.2243C>T	c.(2242-2244)tCg>tTg	p.S748L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.S748L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	748					regulation of transcription, DNA-dependent	nucleus				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						CTCCGCCGACGAGGTGTCCGT	0.711000													5	22					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3600104	3600104	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:3600104G>A	ENST00000302006.3	+	2	1094	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	348						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						cgggccctccgccggggcgcc	0.706000													7	0					0	0	1	0	0
SHQ1	55164	broad.mit.edu	37	3	72799764	72799764	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:72799764C>G	ENST00000325599.8	-	11	1544	c.1405G>C	c.(1405-1407)Gaa>Caa	p.E469Q	SHQ1_ENST00000463369.1_Missense_Mutation_p.E441Q|SHQ1_ENST00000468371.1_5'UTR	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	469	Ser-rich.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CCTGAGTCTTCGTTTCCAGAT	0.473000													16	19					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162746131	162746131	+	Missense_Mutation	SNP	C	C	T	rs121964863		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:162746131C>T	ENST00000367922.2	+	17	2692	c.2254C>T	c.(2254-2256)Cgc>Tgc	p.R752C	DDR2_ENST00000367921.3_Missense_Mutation_p.R752C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	752	Protein kinase.		R -> C (in SEMD-SL; causes retention in an intracellular compartment and thereby abolishes signaling in response collagen binding).		cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GCTCCCTATCCGCTGGATGTC	0.502000													7	111					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139865785	139865785	+	Silent	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:139865785G>A	ENST00000370532.2	-	1	938	c.747C>T	c.(745-747)acC>acT	p.T249T		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	249										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AAGAAATCCAGGTCTTCCAGT	0.418000													96	12					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004287	75004287	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:75004287C>A	ENST00000373359.2	-	1	792	c.600G>T	c.(598-600)tgG>tgT	p.W200C		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	200	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCAAGTCCCAAATGGAGG	0.512000													18	26					3.41278e-10	3.82396e-10	1	1	0
KBTBD7	84078	broad.mit.edu	37	13	41768108	41768108	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr13:41768108A>C	ENST00000379483.3	-	1	594	c.286T>G	c.(286-288)Ttc>Gtc	p.F96V		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	96	BTB.						protein binding	p.Y95fs*42(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		ATGCTCTTGAAGTAGGGACAC	0.602000													20	27					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19642904	19642904	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:19642904C>T	ENST00000457500.2	-	7	1362	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V272M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V345M|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.V281M|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V345M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	345					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	AGGCTGCGCACGCACACGATG	0.632000													9	19					0	0	1	0	0
MS4A15	219995	broad.mit.edu	37	11	60541407	60541407	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr11:60541407A>T	ENST00000405633.3	+	6	675	c.596A>T	c.(595-597)cAt>cTt	p.H199L	MS4A15_ENST00000337911.4_Missense_Mutation_p.H106L|MS4A15_ENST00000528170.1_Missense_Mutation_p.H158L	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	199						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						CAAGCCATCCATGCCCAGGCC	0.607000													57	6					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11711183	11711183	+	Missense_Mutation	SNP	G	G	A	rs146734343	byFrequency	TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:11711183G>A	ENST00000262442.3	+	44	8623	c.8555G>A	c.(8554-8556)cGc>cAc	p.R2852H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2852H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2852	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCACACTGCGCAAAGGCTAC	0.557000													3	32					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16945182	16945184	+	RNA	DEL	AAT	AAT	-	rs59197507		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:16945182_16945184delAAT	ENST00000412962.1	-	0	2335_2337																											TACTGATGAAAATAATAACAGAT	0.325													4	9	---	---	---	---					
CROCCP2	0	broad.mit.edu	37	1	16951775	16951776	+	RNA	INS	-	-	ATT	rs148059330	by1000genomes	TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:16951775_16951776insATT	ENST00000412962.1	-	0	1000																											TAATCTGTATCAttattattat	0.431													4	3	---	---	---	---					
RP11-567C20.3	0	broad.mit.edu	37	1	50680480	50680480	+	RNA	DEL	C	C	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:50680480delC	ENST00000440897.1	-	0	25																											GTTGCAGATACCCCCCAGCCC	0.607													2	4	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143183213	143183213	+	RNA	DEL	A	A	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:143183213delA	ENST00000412204.2	-	0	2503				RP11-782C8.1_ENST00000438000.1_lincRNA																							ctaaagcaggagcaggaggat	0.423													3	3	---	---	---	---					
RP11-435B5.7	0	broad.mit.edu	37	1	143532972	143532973	+	RNA	INS	-	-	G	rs111952315		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:143532972_143532973insG	ENST00000418607.2	-	0	204																											TAACAAACTTTTTTTTTGTCTT	0.317													3	6	---	---	---	---					
SRGAP2B	0	broad.mit.edu	37	1	144011657	144011658	+	RNA	INS	-	-	G	rs66670828		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:144011657_144011658insG	ENST00000467933.1	+	0	915																											GGttcttttttttgttgtttgt	0.520													3	4	---	---	---	---					
RP11-403I13.7	0	broad.mit.edu	37	1	149285546	149285547	+	RNA	INS	-	-	A	rs144216017	by1000genomes	TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:149285546_149285547insA	ENST00000424684.1	+	0	254					NR_046136.1|NR_046138.1|NR_046139.1																						ttctgtctctcaaaaaaaaTGC	0.525													4	5	---	---	---	---					
AC074391.1	0	broad.mit.edu	37	2	65894933	65894933	+	RNA	DEL	A	A	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:65894933delA	ENST00000377977.3	+	0	862																											TCAGAGGTTTAAAAAAAAAAA	0.517													4	8	---	---	---	---					
AC079305.8	0	broad.mit.edu	37	2	178063463	178063463	+	RNA	DEL	T	T	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:178063463delT	ENST00000455416.1	-	0	166																											ATTCAATTGCttttttttttt	0.577													3	5	---	---	---	---					
AC007563.5	0	broad.mit.edu	37	2	217578817	217578817	+	RNA	DEL	C	C	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:217578817delC	ENST00000447289.1	+	0	388																											TATGACAGCACCCCCACTGAC	0.458													2	4	---	---	---	---					
AC131097.3	0	broad.mit.edu	37	2	242851021	242851021	+	RNA	DEL	T	T	-	rs147815662		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:242851021delT	ENST00000430555.1	+	0	192				AC131097.3_ENST00000429947.1_RNA|AC131097.3_ENST00000457686.1_RNA|AC131097.3_ENST00000415434.1_RNA																							gacctcagacttccggtcccc	0.587													4	2	---	---	---	---					
AC131097.3	0	broad.mit.edu	37	2	242980560	242980560	+	RNA	DEL	G	G	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:242980560delG	ENST00000415434.1	+	0	310																											GCCACTCTGTGGGGAGTCACG	0.488													2	4	---	---	---	---					
RP11-260O18.1	0	broad.mit.edu	37	3	82386024	82386025	+	RNA	DEL	GT	GT	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:82386024_82386025delGT	ENST00000470263.1	+	0	472																											gttttgcacggtgtgtgtgtgt	0.416													2	4	---	---	---	---					
CUL9	23113	broad.mit.edu	37	6	43155158	43155159	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:43155158_43155159delTT	ENST00000252050.4	+	6	1646_1647	c.1562_1563delTT	c.(1561-1563)cfs	p.L521fs	CUL9_ENST00000372647.2_Frame_Shift_Del_p.L521fs|CUL9_ENST00000354495.3_Intron	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	521					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTCCAGAATCTTTGGAAGAACC	0.450													62	64	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-	rs71973809		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:100384030_100384033delTTGT	ENST00000542585.1	+	0	7124				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505													4	2	---	---	---	---					
RP11-262H14.1	0	broad.mit.edu	37	9	66463991	66463992	+	RNA	DEL	TT	TT	-	rs3068011		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr9:66463991_66463992delTT	ENST00000424345.1	+	0	224																											AGCCATTCTCTTTTCATTCCCC	0.446													2	4	---	---	---	---					
RP11-834C11.3	0	broad.mit.edu	37	12	54503718	54503718	+	RNA	DEL	G	G	-	rs79863277		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:54503718delG	ENST00000515617.1	+	0	311					NR_026655.1																						GGTAGTCCCCGCCGTGGTTCT	0.607													2	4	---	---	---	---					
RP11-13G14.4	0	broad.mit.edu	37	12	108870050	108870050	+	RNA	DEL	C	C	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:108870050delC	ENST00000502160.2	-	0	1196																											CATCCCCCTGCCCCCCAATAA	0.572													2	4	---	---	---	---					
NOVA1	4857	broad.mit.edu	37	14	26941517	26941517	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr14:26941517delA	ENST00000547619.1	-	4	586	c.528delT	c.(526-528)tafs	p.Y176fs	NOVA1_ENST00000344429.5_Intron|NOVA1_ENST00000267422.7_Intron|NOVA1_ENST00000539517.2_Intron|NOVA1_ENST00000465357.2_Intron			P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	0	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGACAGGATGATACTGTACCT	0.438													6	7	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5578597	5578598	+	RNA	INS	-	-	TC			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr16:5578597_5578598insTC	ENST00000569895.1	+	0	343																											CCCCAATTCATTCTCTCTCTCT	0.475													2	4	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30736370	30736371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr16:30736370_30736371insC	ENST00000262518.4	+	25	6010_6011	c.5625_5626insC	c.(5623-5628)caccccfs	p.HP1875fs	SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569													7	156	---	---	---	---					
ABHD17A	81926	broad.mit.edu	37	19	1877579	1877579	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:1877579delG	ENST00000292577.7	-	4	1068	c.635delC	c.(634-636)tgfs	p.S212fs	ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.S263fs|ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.R182fs	NM_001130111.1	NP_001123583.1			abhydrolase domain containing 17A																		GGTGAGCGGCGAGTGCAGCAC	0.692													7	37	---	---	---	---					
CTC-525D6.1	0	broad.mit.edu	37	19	29859695	29859695	+	RNA	DEL	G	G	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:29859695delG	ENST00000582581.1	-	0	2030					NR_040029.1																						aaaaaTGACAGGGTGGCCCAA	0.537													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11061894	11061894	+	RNA	DEL	G	G	-	rs56157850		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr21:11061894delG	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAAAGGAAAAGTTATGTATAT	0.318													5	5	---	---	---	---					
RP11-191L9.4	0	broad.mit.edu	37	22	48109485	48109485	+	RNA	DEL	G	G	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:48109485delG	ENST00000423737.1	+	0	982																											TTCCAGATCTGGGGGTGGTGG	0.522													2	4	---	---	---	---					
