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
SH3PXD2A	9644	broad.mit.edu	37	10	105362704	105362704	+	Silent	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr10:105362704C>T	ENST00000369774.4	-	15	2547	c.2271G>A	c.(2269-2271)cgG>cgA	p.R757R	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Silent_p.R624R|SH3PXD2A_ENST00000355946.2_Silent_p.R729R|SH3PXD2A_ENST00000538130.1_Silent_p.R592R			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	757					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ATGGCTTGGGCCGGACCGATG	0.632000													5	266					0	0	0.184627	0	0
DCAF13	25879	broad.mit.edu	37	8	104442853	104442853	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:104442853G>A	ENST00000297579.5	+	6	1371	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	213					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		p.G365E(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTTCTCTTGGGAAGTTGTGCA	0.378000													99	260					0	0	0.870114	0	0
PRRC2C	23215	broad.mit.edu	37	1	171510842	171510842	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:171510842C>T	ENST00000367742.3	+	16	4479	c.4237C>T	c.(4237-4239)Cga>Tga	p.R1413*	PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.R1411*|PRRC2C_ENST00000338920.4_Nonsense_Mutation_p.R1411*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.R1413*			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1411	Arg-rich.						protein C-terminus binding	p.R1413*(2)									AAAATTTGAGCGAAAATTTGA	0.488000													9	31					0	0	0.307466	0	0
RLN1	6013	broad.mit.edu	37	9	5335488	5335488	+	Silent	SNP	T	T	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr9:5335488T>A	ENST00000223862.1	-	2	447	c.321A>T	c.(319-321)ccA>ccT	p.P107P	RLN1_ENST00000223858.4_3'UTR|RLN1_ENST00000487557.2_5'UTR	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	107					female pregnancy|signal transduction	extracellular region	hormone activity	p.P107P(1)		large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		CTGGTAATGATGGTTGCCTCT	0.398000													29	395					0	0	0.706142	0	0
MAN1C1	57134	broad.mit.edu	37	1	26012972	26012972	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:26012972G>C	ENST00000374332.4	+	2	912	c.582G>C	c.(580-582)atG>atC	p.M194I	MAN1C1_ENST00000263979.3_Missense_Mutation_p.M14I	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	194					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.M194I(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GTTATGCAATGGGGAAAAACG	0.488000													24	69					0	0	0.693898	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373716	86373716	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr12:86373716A>T	ENST00000604798.1	-	8	1992	c.788T>A	c.(787-789)cTc>cAc	p.L263H	MGAT4C_ENST00000549405.2_Missense_Mutation_p.L263H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.L263H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L263H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.L292H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.L263H			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	263					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.L263H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGAATGATAGAGTTTACCAAT	0.373000													39	48					0	0	0.819951	0	0
MYBL2	4605	broad.mit.edu	37	20	42343839	42343839	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr20:42343839G>C	ENST00000217026.4	+	13	2017	c.1890G>C	c.(1888-1890)ttG>ttC	p.L630F	MYBL2_ENST00000396863.4_Missense_Mutation_p.L606F	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	630						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACAACAGCTTGCTCAACCAGG	0.557000													4	288					0	0	0.150653	0	0
PCLO	27445	broad.mit.edu	37	7	82544173	82544173	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr7:82544173C>T	ENST00000423517.2	-	7	13466	c.13129G>A	c.(13129-13131)Gca>Aca	p.A4377T	PCLO_ENST00000437081.1_Missense_Mutation_p.A1097T|PCLO_ENST00000333891.8_Missense_Mutation_p.A4377T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4308					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.A4377T(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTCCAGCTGCAGCCCTGGCC	0.502000													22	53					0	0	0.654019	0	0
HMCN1	83872	broad.mit.edu	37	1	185897775	185897775	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:185897775G>A	ENST00000271588.4	+	10	1757	c.1528G>A	c.(1528-1530)Gca>Aca	p.A510T	HMCN1_ENST00000367492.2_Missense_Mutation_p.A510T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	510	Ig-like C2-type 1.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.A510T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACTGGACGGGCACAGACATT	0.413000													53	90					0	0	0.870114	0	0
VLDLR	7436	broad.mit.edu	37	9	2643480	2643480	+	Nonsense_Mutation	SNP	C	C	T	rs80338907		TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr9:2643480C>T	ENST00000382100.2	+	5	1125	c.769C>T	c.(769-771)Cga>Tga	p.R257*	VLDLR_ENST00000382099.2_Nonsense_Mutation_p.R257*	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	257	LDL-receptor class A 6.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TAAGAAGTGGCGATGTGATGG	0.537000													4	140					0	0	0.184627	0	0
OR51F1	256892	broad.mit.edu	37	11	4790747	4790747	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr11:4790747T>C	ENST00000380383.1	-	1	421	c.422A>G	c.(421-423)tAc>tGc	p.Y141C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.Y134C			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	134						integral to membrane	olfactory receptor activity	p.Y134C(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AATGGTAGTGTACCTCAGAGG	0.423000													12	41					0	0	0.435327	0	0
ZNF770	54989	broad.mit.edu	37	15	35274619	35274619	+	Silent	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr15:35274619G>T	ENST00000356321.4	-	3	1361	c.1017C>A	c.(1015-1017)atC>atA	p.I339I		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I339I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GCTTGGCCAAGATTTTTTTAA	0.323000													4	23					0.0215528	0.0225324	0.217242	1	0
TRBV6-4	28603	broad.mit.edu	37	7	142250829	142250829	+	RNA	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr7:142250829G>T	ENST00000390360.3	-	0	238																											TTTGCCAGTGGTACCTGCAGT	0.473000													15	50					1.49906e-05	1.70685e-05	0.457914	1	0
ZNF676	163223	broad.mit.edu	37	19	22363197	22363197	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr19:22363197C>G	ENST00000397121.2	-	3	1639	c.1322G>C	c.(1321-1323)aGa>aCa	p.R441T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R441T(1)|p.R441K(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGCATGAATTCTCTTGTGTTC	0.438000													32	67					0	0	0.769981	0	0
TEP1	7011	broad.mit.edu	37	14	20871907	20871907	+	Missense_Mutation	SNP	T	T	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr14:20871907T>G	ENST00000262715.5	-	6	1209	c.1169A>C	c.(1168-1170)cAc>cCc	p.H390P	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	390	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.H390P(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCGGCGGGGGTGTCTCTTGGC	0.627000													5	63					0	0	0.575678	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414090	105414090	+	Silent	SNP	C	C	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr14:105414090C>A	ENST00000333244.5	-	7	7817	c.7698G>T	c.(7696-7698)ctG>ctT	p.L2566L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2566						nucleus		p.L2566L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCACCTTGGGCAGGTGCCCTT	0.632000													79	164					6.86016e-32	8.86425e-32	0.870114	1	0
KIAA2026	158358	broad.mit.edu	37	9	6007361	6007361	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr9:6007361C>G	ENST00000399933.3	-	1	426	c.427G>C	c.(427-429)Gaa>Caa	p.E143Q	KIAA2026_ENST00000381461.2_Missense_Mutation_p.E143Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	143								p.E143Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AACTTCTCTTCCATCTGCAGC	0.692000													37	38					0	0	0.796494	0	0
AFF4	27125	broad.mit.edu	37	5	132269967	132269967	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr5:132269967C>T	ENST00000265343.5	-	3	1169	c.790G>A	c.(790-792)Gag>Aag	p.E264K	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.E264K	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	264	Ser-rich.			E -> G (in Ref. 2; AAM00184).	transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.E264K(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCATGGACTCCTGTCCGTCC	0.517000													16	63					0	0	0.500413	0	0
TMEM159	57146	broad.mit.edu	37	16	21172524	21172524	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr16:21172524G>C	ENST00000233047.4	+	2	489	c.21G>C	c.(19-21)caG>caC	p.Q7H	TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000261388.3_Missense_Mutation_p.Q7H|TMEM159_ENST00000451578.2_Missense_Mutation_p.Q7H|TMEM159_ENST00000572599.1_Missense_Mutation_p.Q7H|TMEM159_ENST00000572258.1_Missense_Mutation_p.Q7H			Q96B96	TM159_HUMAN	transmembrane protein 159	7						integral to membrane		p.Q7H(1)		large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		AGGAGCCCCAGAGTATCTCAA	0.453000													3	68					0	0	0.150653	0	0
COL26A1	136227	broad.mit.edu	37	7	101200875	101200875	+	RNA	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr7:101200875C>T	ENST00000313669.7	+	0	1580				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		TGAGCCGCCGCTGTTTCCTAA	0.617000													3	19					0	0	0.115264	0	0
SNAI2	6591	broad.mit.edu	37	8	49832627	49832627	+	Silent	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:49832627G>A	ENST00000396822.1	-	3	810	c.453C>T	c.(451-453)tgC>tgT	p.C151C	SNAI2_ENST00000020945.1_Silent_p.C151C			O43623	SNAI2_HUMAN	snail family zinc finger 2	151					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C151W(1)|p.C151C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ACTGGGCATCGCAGTGCAGCT	0.453000													49	70					0	0	0.870114	0	0
CCDC67	159989	broad.mit.edu	37	11	93090193	93090193	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr11:93090193A>G	ENST00000298050.3	+	4	381	c.281A>G	c.(280-282)cAa>cGa	p.Q94R	CCDC67_ENST00000527307.1_Missense_Mutation_p.Q94R	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	94								p.Q86R(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GGACAACTACAAAGCCTAAAG	0.289000													4	7					0	0	0.150653	0	0
LRFN5	145581	broad.mit.edu	37	14	42356002	42356002	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr14:42356002G>T	ENST00000554171.1	+	5	2606	c.174G>T	c.(172-174)ttG>ttT	p.L58F	LRFN5_ENST00000554120.1_Missense_Mutation_p.L58F|LRFN5_ENST00000298119.4_Missense_Mutation_p.L58F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	58						integral to membrane		p.L58F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AACTGCGGTTGGCAGACAATT	0.383000										HNSCC(30;0.082)			18	26					0.00121646	0.00130741	0.575678	1	0
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs117072442	by1000genomes	TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr19:50473221T>C	ENST00000602139.1	+	0	222									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602000													4	7					0	0	0.184627	0	0
OR2S2	56656	broad.mit.edu	37	9	35957732	35957732	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr9:35957732C>G	ENST00000341959.2	-	1	419	c.364G>C	c.(364-366)Gat>Cat	p.D122H		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D112H(1)|p.D122H(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			ACATAGCGATCAAATGCCATC	0.562000													24	43					0	0	0.667858	0	0
RPE65	6121	broad.mit.edu	37	1	68912489	68912489	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:68912489A>G	ENST00000262340.5	-	3	202	c.149T>C	c.(148-150)tTt>tCt	p.F50S		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	50					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.F50S(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TCCAACTTCAAAGAGTCCTGG	0.507000													25	27					0	0	0.639603	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502489	140502489	+	Silent	SNP	A	A	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr5:140502489A>G	ENST00000194152.1	+	1	909	c.909A>G	c.(907-909)aaA>aaG	p.K303K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		303	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.K303K(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACTGTTGAAAAAAAAATTGG	0.373000													77	145					0	0	0.870114	0	0
OGDH	4967	broad.mit.edu	37	7	44733543	44733543	+	Silent	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr7:44733543C>T	ENST00000222673.5	+	11	1497	c.1455C>T	c.(1453-1455)taC>taT	p.Y485Y	OGDH_ENST00000449767.1_Silent_p.Y481Y|OGDH_ENST00000447398.1_Silent_p.Y496Y|OGDH_ENST00000444676.1_Silent_p.Y500Y|OGDH_ENST00000439616.2_Silent_p.Y335Y|OGDH_ENST00000543843.1_Silent_p.Y436Y	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	485					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.Y485Y(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CTGTCATGTACGTGTGCAAAG	0.612000													3	40					0	0	0.115264	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906262	164906262	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr3:164906262C>T	ENST00000475390.1	-	2	2800	c.2357G>A	c.(2356-2358)gGa>gAa	p.G786E	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G786E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	786						integral to membrane		p.G786E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCACCCATTCCCGGTGGTTG	0.562000										HNSCC(40;0.11)			30	56					0	0	0.788014	0	0
CPSF1	29894	broad.mit.edu	37	8	145626466	145626466	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:145626466C>T	ENST00000349769.3	-	6	485	c.391G>A	c.(391-393)Ggg>Agg	p.G131R		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	131					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.G131R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGCACAAACCCGTCCTGGGGG	0.677000													4	24					0	0	0.150653	0	0
KIF26A	26153	broad.mit.edu	37	14	104642531	104642531	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr14:104642531G>A	ENST00000315264.7	+	11	3367	c.2989G>A	c.(2989-2991)Gac>Aac	p.D997N	KIF26A_ENST00000423312.2_Missense_Mutation_p.D1136N			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1136					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	p.D1136N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTTCAGCCCCGACTCGCTGGC	0.697000													3	9					0	0	0.150653	0	0
GLUD1P7	414212	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													3	28					0	0	0.115264	0	0
JPH2	57158	broad.mit.edu	37	20	42814998	42814998	+	Silent	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr20:42814998G>A	ENST00000372980.3	-	1	1220	c.348C>T	c.(346-348)gaC>gaT	p.D116D	JPH2_ENST00000342272.3_Silent_p.D116D	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	116	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		p.D116D(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCATAGCCGTCTTGCAGGC	0.632000													10	34					0	0	0.335167	0	0
SNTA1	6640	broad.mit.edu	37	20	31996581	31996581	+	Missense_Mutation	SNP	C	C	T	rs148604302		TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr20:31996581C>T	ENST00000217381.2	-	7	1622	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	451	SU.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	p.E451K(1)		breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TGCAGCTTCTCGAAGGGCTGT	0.612000													38	62					0	0	0.812448	0	0
CAP1	10487	broad.mit.edu	37	1	40529940	40529940	+	Silent	SNP	C	C	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:40529940C>A	ENST00000372797.3	+	5	897	c.336C>A	c.(334-336)atC>atA	p.I112I	CAP1_ENST00000372792.2_Silent_p.I112I|CAP1_ENST00000340450.3_Silent_p.I111I|CAP1_ENST00000372798.1_Silent_p.I111I|CAP1_ENST00000372802.1_Silent_p.I111I|CAP1_ENST00000372805.3_Silent_p.I112I	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	112					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGAGCAGATCAAAGAAGTGA	0.458000													5	122					0.184627	0.189573	0.184627	1	0
BMPR1B	658	broad.mit.edu	37	4	96075720	96075720	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr4:96075720C>A	ENST00000515059.1	+	13	1688	c.1405C>A	c.(1405-1407)Ctc>Atc	p.L469I	BMPR1B_ENST00000440890.2_Missense_Mutation_p.L499I|BMPR1B_ENST00000264568.4_Missense_Mutation_p.L469I|BMPR1B_ENST00000394931.1_Missense_Mutation_p.L469I	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	469	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	p.L469I(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GATGGGAAAACTCATGACAGA	0.433000													11	53					0.000978159	0.00107132	0.387290	1	0
TAF1	6872	broad.mit.edu	37	X	70598123	70598123	+	Silent	SNP	A	A	G	rs55836865		TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chrX:70598123A>G	ENST00000449580.1	+	7	1020	c.969A>G	c.(967-969)caA>caG	p.Q323Q	TAF1_ENST00000423759.1_Silent_p.Q344Q|TAF1_ENST00000276072.3_Silent_p.Q344Q|TAF1_ENST00000373790.4_Silent_p.Q323Q			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	323	Protein kinase 1.				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	p.Q344Q(1)|p.Q323Q(1)		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)				AATTTTCCCAATCAACTGGAG	0.473000													3	56					0	0	0.150653	0	0
SHC1	6464	broad.mit.edu	37	1	154942831	154942831	+	Silent	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:154942831G>A	ENST00000448116.2	-	1	392	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368445.5_Silent_p.L58L	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	58					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.L58L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGGAGCACAGGGTAGTGGGA	0.672000													3	41					0	0	0.150653	0	0
DISP1	84976	broad.mit.edu	37	1	223178044	223178044	+	Missense_Mutation	SNP	T	T	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:223178044T>G	ENST00000284476.6	+	8	3469	c.3305T>G	c.(3304-3306)gTt>gGt	p.V1102G		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1102					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.V1102G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCCTCCACAGTTCTAGCTTAC	0.562000													30	21					0	0	0.729181	0	0
SRD5A1	6715	broad.mit.edu	37	5	6663031	6663031	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr5:6663031C>T	ENST00000274192.5	+	4	899	c.665C>T	c.(664-666)gCt>gTt	p.A222V	SRD5A1_ENST00000537411.1_3'UTR|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A175V	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	222					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	p.A222V(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	GCGGCTTTTGCTTTCTTCACG	0.393000													25	170					0	0	0.667858	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68042651	68042651	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr14:68042651C>T	ENST00000329153.5	+	16	2413	c.2281C>T	c.(2281-2283)Cac>Tac	p.H761Y		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	761	PH 2.					cytoskeleton	binding	p.H761Y(1)|p.H800Y(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GCTTTCCTCCCACTGCACCCT	0.592000													10	24					0	0	0.361761	0	0
UBAP2	55833	broad.mit.edu	37	9	33998823	33998823	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr9:33998823C>T	ENST00000379238.1	-	3	256	c.139G>A	c.(139-141)Gat>Aat	p.D47N	UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000449054.1_Missense_Mutation_p.D47N|UBAP2_ENST00000418786.2_Missense_Mutation_p.D47N|UBAP2_ENST00000360802.1_Missense_Mutation_p.D47N|UBAP2_ENST00000539807.1_Missense_Mutation_p.D9N|UBAP2_ENST00000480885.1_5'UTR			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	47								p.D47N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCATTCTTATCAAAGATCACT	0.328000													18	135					0	0	0.624587	0	0
RFPL3	10738	broad.mit.edu	37	22	32754215	32754215	+	Silent	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr22:32754215C>T	ENST00000249007.4	+	1	362	c.157C>T	c.(157-159)Ctg>Ttg	p.L53L	RFPL3_ENST00000397468.1_Silent_p.L24L|RFPL3_ENST00000382088.3_Silent_p.L24L	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	53							zinc ion binding	p.L53L(1)|p.L24L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ACCAATGTCCCTGGAGTGTGG	0.537000													23	26					0	0	0.639603	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													3	36					0	0	0.115264	0	0
SPATA7	55812	broad.mit.edu	37	14	88904759	88904759	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr14:88904759A>C	ENST00000556553.1	+	12	2256	c.1697A>C	c.(1696-1698)gAt>gCt	p.D566A	SPATA7_ENST00000356583.5_Missense_Mutation_p.D566A|SPATA7_ENST00000045347.7_Missense_Mutation_p.D457A|SPATA7_ENST00000393545.4_Missense_Mutation_p.D598A			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	598					response to stimulus|visual perception			p.D598A(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TGCCCTTTGGATGTTTAATCT	0.328000													15	36					0	0	0.457914	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32918372	32918372	+	Silent	SNP	T	T	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr6:32918372T>C	ENST00000374843.4	-	2	382	c.297A>G	c.(295-297)ttA>ttG	p.L99L	HLA-DMA_ENST00000464392.1_Intron|HLA-DMA_ENST00000395303.3_Silent_p.L99L|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395305.3_Intron	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	99						integral to membrane|MHC class II protein complex		p.L99L(1)		kidney(1)|large_intestine(2)|lung(8)	11						CTTTGTCAAATAAAATGGCAG	0.507000													58	117					0	0	0.870114	0	0
KIAA2026	158358	broad.mit.edu	37	9	6007613	6007613	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr9:6007613C>G	ENST00000399933.3	-	1	174	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	KIAA2026_ENST00000381461.2_Missense_Mutation_p.E59Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	59								p.E59Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GCCTCCATCTCTTCCTCCTGA	0.662000													39	65					0	0	0.840704	0	0
DSE	29940	broad.mit.edu	37	6	116757414	116757414	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr6:116757414G>T	ENST00000331677.3	+	7	2227	c.1783G>T	c.(1783-1785)Gag>Tag	p.E595*	DSE_ENST00000452085.3_Nonsense_Mutation_p.E595*|DSE_ENST00000537543.1_Nonsense_Mutation_p.E614*|DSE_ENST00000359564.2_Nonsense_Mutation_p.E595*			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	595					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	p.E595*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TGTTCCTTTTGAGGAGACTGT	0.493000													10	30					2.80697e-09	3.36252e-09	0.387290	1	0
ZNF419	79744	broad.mit.edu	37	19	58005450	58005450	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr19:58005450A>T	ENST00000424930.2	+	5	1757	c.1528A>T	c.(1528-1530)Atg>Ttg	p.M510L	ZNF419_ENST00000415379.2_Missense_Mutation_p.M463L|ZNF419_ENST00000426954.2_Missense_Mutation_p.M497L|ZNF419_ENST00000221735.7_Missense_Mutation_p.M509L|ZNF419_ENST00000347466.6_Missense_Mutation_p.M477L|ZNF419_ENST00000442920.2_Missense_Mutation_p.M496L|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Missense_Mutation_p.M441L	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M477L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CACTGGAGAAATGCAGTGATT	0.428000													37	76					0	0	0.804634	0	0
MTMR1	8776	broad.mit.edu	37	X	149901147	149901147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chrX:149901147C>A	ENST00000445323.2	+	10	1146	c.1025C>A	c.(1024-1026)tCa>tAa	p.S342*	MTMR1_ENST00000542156.1_Nonsense_Mutation_p.S334*|MTMR1_ENST00000451863.2_Nonsense_Mutation_p.S334*|MTMR1_ENST00000544228.1_Nonsense_Mutation_p.S334*|MTMR1_ENST00000370390.3_Nonsense_Mutation_p.S334*|MTMR1_ENST00000538506.1_Nonsense_Mutation_p.S221*|MTMR1_ENST00000541925.1_Nonsense_Mutation_p.S240*			Q13613	MTMR1_HUMAN	myotubularin related protein 1	334	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity	p.S334*(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACGCACAGTCACACAAGCTT	0.423000													39	13					1.03484e-13	1.29355e-13	0.812448	1	0
SRD5A1	6715	broad.mit.edu	37	5	6663010	6663010	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr5:6663010C>T	ENST00000274192.5	+	4	878	c.644C>T	c.(643-645)tCt>tTt	p.S215F	SRD5A1_ENST00000537411.1_3'UTR|SRD5A1_ENST00000538824.1_Missense_Mutation_p.S168F	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	215					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	p.S215F(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	GCCAGCTGGTCTGTCCAAGGC	0.418000													24	191					0	0	0.654019	0	0
XIRP2	129446	broad.mit.edu	37	2	168100136	168100136	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr2:168100136G>C	ENST00000409195.1	+	9	2323	c.2234G>C	c.(2233-2235)aGa>aCa	p.R745T	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R523T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R745T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	570					actin cytoskeleton organization	cell junction	actin binding	p.R745T(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATGTTATTAGAGATGGTTCG	0.383000													24	53					0	0	0.639603	0	0
TCF3	6929	broad.mit.edu	37	19	1625599	1625599	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr19:1625599G>A	ENST00000262965.5	-	7	819	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	TCF3_ENST00000588136.1_Missense_Mutation_p.R159W|TCF3_ENST00000453954.2_Missense_Mutation_p.R75W|TCF3_ENST00000344749.5_Missense_Mutation_p.R159W|TCF3_ENST00000395423.3_Missense_Mutation_p.R108W	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	159					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	p.R159W(2)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGCTCTCCGCCGGGAGCTG	0.697000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								4	10					0	0	0.150653	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999137	143999137	+	Silent	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:143999137G>T	ENST00000323110.2	-	1	122	c.120C>A	c.(118-120)gcC>gcA	p.A40A		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	40					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.A40A(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTGGGGCATGGCTTCAAACG	0.652000									Familial Hyperaldosteronism type I				17	73					1.67942e-08	1.99106e-08	0.539581	1	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406331	39406331	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr17:39406331G>T	ENST00000334109.2	+	1	393	c.359G>T	c.(358-360)aGc>aTc	p.S120I		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	120	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament		p.S120I(1)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTAAACCAGAGCTGTGGCTCC	0.602000													12	152					0.000151284	0.000167286	0.435327	1	0
KCNH8	131096	broad.mit.edu	37	3	19479843	19479843	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr3:19479843G>A	ENST00000328405.2	+	8	1631	c.1365G>A	c.(1363-1365)atG>atA	p.M455I	KCNH8_ENST00000537696.1_Missense_Mutation_p.M96I	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	455						integral to membrane	two-component sensor activity	p.M455I(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCTGCACCATGCTGATTGGTG	0.458000													13	19					0	0	0.435327	0	0
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr17:7578275G>A	ENST00000420246.2	-	6	706	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)		ATAAGATGCTGAGGAGGGGCC	0.557000		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)			15	16					0	0	0.520397	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433189	72433189	+	Silent	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chrX:72433189G>A	ENST00000373517.3	-	1	1495	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	NAP1L2_ENST00000536638.1_Silent_p.T238T	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	380					nucleosome assembly	chromatin assembly complex		p.T380T(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TTCCATTTGAGGTGATTCCAT	0.363000													46	15					0	0	0.864702	0	0
AK5	26289	broad.mit.edu	37	1	77949040	77949040	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:77949040G>T	ENST00000344720.5	+	9	2046	c.1020G>T	c.(1018-1020)atG>atT	p.M340I	AK5_ENST00000354567.2_Missense_Mutation_p.M366I	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	366					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	p.M366I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGGACACTATGGGAGGTGAGT	0.328000													4	128					0.00116845	0.00126765	0.217242	1	0
PREX2	80243	broad.mit.edu	37	8	68931805	68931805	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:68931805G>C	ENST00000288368.4	+	3	512	c.235G>C	c.(235-237)Gac>Cac	p.D79H	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	79	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.D79H(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAACATTGAAGACATCCTTGC	0.358000													6	32					0	0	0.217242	0	0
WTAP	9589	broad.mit.edu	37	6	160169299	160169299	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr6:160169299T>A	ENST00000358372.4	+	6	2107	c.350T>A	c.(349-351)aTc>aAc	p.I117N	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Missense_Mutation_p.I117N	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	117					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		p.I117N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GACCCAGCGATCAACTTGTTT	0.438000													16	18					0	0	0.500413	0	0
KALRN	8997	broad.mit.edu	37	3	124045016	124045016	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr3:124045016C>A	ENST00000360013.3	+	7	1403	c.1276C>A	c.(1276-1278)Cag>Aag	p.Q426K	KALRN_ENST00000460856.1_Missense_Mutation_p.Q426K|KALRN_ENST00000240874.3_Missense_Mutation_p.Q426K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	426					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.Q426K(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAAGGCTGAGCAGGTAAGGTG	0.602000													11	29					3.86212e-05	4.35435e-05	0.361761	1	0
GPRIN1	114787	broad.mit.edu	37	5	176026461	176026461	+	Silent	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr5:176026461C>T	ENST00000303991.4	-	2	552	c.375G>A	c.(373-375)acG>acA	p.T125T		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	125						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTCCCAGACGTGGTGGCTT	0.547000													4	118					0	0	0.150653	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145021125	145021125	+	Silent	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:145021125C>T	ENST00000369359.4	-	2	314	c.276G>A	c.(274-276)acG>acA	p.T92T	PDE4DIP_ENST00000313382.9_Silent_p.T21T|PDE4DIP_ENST00000478649.2_Silent_p.T21T|PDE4DIP_ENST00000369348.3_Silent_p.T92T|PDE4DIP_ENST00000530740.1_Silent_p.T92T|PDE4DIP_ENST00000493130.2_Silent_p.T21T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.T92T(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGTGTGACTCGTTCTGGGTA	0.433000			T	PDGFRB	MPD								15	196					0	0	0.500413	0	0
KRT20	54474	broad.mit.edu	37	17	39034573	39034573	+	Silent	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr17:39034573G>A	ENST00000167588.3	-	6	1004	c.963C>T	c.(961-963)taC>taT	p.Y321Y		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	321	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				ACTGGCTGCTGTAACGGGCCT	0.483000													4	97					0	0	0.150653	0	0
IGHM	3507	broad.mit.edu	37	14	106320729	106320729	+	RNA	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr14:106320729C>T	ENST00000390559.2	-	0	1080																											TGCACGAAGACGTCCGCGGGA	0.672000													3	13					0	0	0.115264	0	0
KIAA2026	158358	broad.mit.edu	37	9	6007387	6007387	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr9:6007387C>T	ENST00000399933.3	-	1	400	c.401G>A	c.(400-402)gGa>gAa	p.G134E	KIAA2026_ENST00000381461.2_Missense_Mutation_p.G134E	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	134								p.G134E(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CATGCCCTGTCCGGGCTGCTG	0.692000													21	25					0	0	0.608945	0	0
GP2	2813	broad.mit.edu	37	16	20327347	20327347	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr16:20327347G>T	ENST00000302555.5	-	9	1581	c.1432C>A	c.(1432-1434)Caa>Aaa	p.Q478K	GP2_ENST00000381360.5_Missense_Mutation_p.Q334K|GP2_ENST00000381362.4_Missense_Mutation_p.Q481K|GP2_ENST00000341642.5_Missense_Mutation_p.Q331K			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	481	ZP.					anchored to membrane|extracellular region|plasma membrane		p.Q478K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTGCGGACTTGACTTCTTGAG	0.483000													12	73					0.000151284	0.000167286	0.435327	1	0
PJA1	64219	broad.mit.edu	37	X	68381893	68381893	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chrX:68381893G>A	ENST00000361478.1	-	2	1566	c.1189C>T	c.(1189-1191)Ccg>Tcg	p.P397S	PJA1_ENST00000374584.3_Missense_Mutation_p.P209S|PJA1_ENST00000374583.1_Missense_Mutation_p.P397S|PJA1_ENST00000374571.4_Missense_Mutation_p.P342S	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	397							zinc ion binding	p.P397S(1)|p.P209S(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TCTTTCCCCGGCAGAGTCTCC	0.622000													3	45					0	0	0.150653	0	0
RGS2	5997	broad.mit.edu	37	1	192778207	192778207	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:192778207A>T	ENST00000235382.5	+	1	37	c.6A>T	c.(4-6)caA>caT	p.Q2H	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	2					cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity	p.Q2H(1)		large_intestine(3)|lung(1)|urinary_tract(1)	5						CGATAATGCAAAGTGCTATGT	0.607000													12	28					0	0	0.387290	0	0
SHPRH	257218	broad.mit.edu	37	6	146275957	146275957	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr6:146275957T>C	ENST00000367503.3	-	2	900	c.502A>G	c.(502-504)Atg>Gtg	p.M168V	SHPRH_ENST00000367505.2_Missense_Mutation_p.M168V|SHPRH_ENST00000438092.2_Missense_Mutation_p.M168V|SHPRH_ENST00000275233.7_Missense_Mutation_p.M168V	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	168					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.M168V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CAAATACTCATCGGTTCTTTT	0.368000													33	31					0	0	0.788014	0	0
RAET1K	646024	broad.mit.edu	37	6	150322211	150322211	+	RNA	SNP	C	C	T	rs9397541	by1000genomes	TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr6:150322211C>T	ENST00000533735.1	-	0	665					NR_024045.1																						GATCCTCTGCCGTGTCCGTGG	0.498000													3	37					0	0	0.150653	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497387	1497387	+	Silent	SNP	C	C	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:1497387C>A	ENST00000421627.2	+	2	662	c.528C>A	c.(526-528)ggC>ggA	p.G176G		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	255					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.G198G(1)|p.G220G(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGCCAACGGCACCAAGGCGG	0.677000													4	4					0.00909568	0.00959636	0.150653	1	0
ALK	238	broad.mit.edu	37	2	29456482	29456482	+	Silent	SNP	A	A	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr2:29456482A>G	ENST00000389048.3	-	14	3342	c.2436T>C	c.(2434-2436)caT>caC	p.H812H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	812					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.H812H(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CTGCCCACTCATGCACGCTTC	0.488000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	112					0	0	0.278610	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97949602	97949602	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr7:97949602G>C	ENST00000005260.8	-	4	438	c.223C>G	c.(223-225)Ctc>Gtc	p.L75V	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	75	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	p.L75V(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			ATCTCTATGAGGACATGTCCT	0.403000													15	51					0	0	0.500413	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290277	132290277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr2:132290277C>T	ENST00000295171.6	+	5	937	c.799C>T	c.(799-801)Cga>Tga	p.R267*	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Nonsense_Mutation_p.R201*	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	267										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCTTCCCCTGCGAAAGCCCAC	0.642000													4	104					0	0	0.150653	0	0
WBP11	51729	broad.mit.edu	37	12	14943683	14943683	+	Splice_Site	SNP	C	C	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr12:14943683C>A	ENST00000261167.2	-	10	1249	c.1015_splice	c.e10-1	p.G339_splice	WBP11_ENST00000537574.1_Splice_Site_p.G339_splice	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	339					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	p.G339V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GATTTCTTGACCTGAAAGAAA	0.378000													20	89					2.89027e-11	3.53597e-11	0.624587	1	0
GABRA1	2554	broad.mit.edu	37	5	161324267	161324267	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr5:161324267A>G	ENST00000428797.2	+	11	1565	c.1210A>G	c.(1210-1212)Aca>Gca	p.T404A	GABRA1_ENST00000023897.6_Missense_Mutation_p.T404A|GABRA1_ENST00000393943.4_Missense_Mutation_p.T404A|GABRA1_ENST00000437025.2_Missense_Mutation_p.T404A|GABRA1_ENST00000420560.1_Missense_Mutation_p.T404A|GABRA1_ENST00000444819.1_Missense_Mutation_p.T404A	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	404					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.T404A(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CAAGCCCGAAACAAAACCACC	0.468000													8	119					0	0	0.278610	0	0
TENC1	23371	broad.mit.edu	37	12	53455027	53455027	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr12:53455027G>C	ENST00000314250.6	+	20	3627	c.3337G>C	c.(3337-3339)Gat>Cat	p.D1113H	TENC1_ENST00000314276.3_Missense_Mutation_p.D1123H|TENC1_ENST00000552570.1_Missense_Mutation_p.D1113H|TENC1_ENST00000549700.1_Missense_Mutation_p.D1048H|TENC1_ENST00000546602.1_Missense_Mutation_p.D1016H|TENC1_ENST00000379902.3_Missense_Mutation_p.D989H|TENC1_ENST00000451358.1_Missense_Mutation_p.D1103H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1113	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	p.D1113H(1)|p.D1123H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TCTGCTCTCAGATAATGTCCC	0.617000													27	52					0	0	0.681144	0	0
KIF4B	285643	broad.mit.edu	37	5	154396482	154396482	+	Silent	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr5:154396482C>T	ENST00000435029.4	+	1	3223	c.3063C>T	c.(3061-3063)atC>atT	p.I1021I		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1021	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGAATATATCCCACCTAAGC	0.408000													4	158					0	0	0.184627	0	0
AEBP1	165	broad.mit.edu	37	7	44150680	44150680	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr7:44150680G>T	ENST00000450684.2	+	1	351	c.283G>T	c.(283-285)Gct>Tct	p.A95S	AEBP1_ENST00000223357.3_Intron			Q8IUX7	AEBP1_HUMAN	AE binding protein 1	543	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCTGGCAGGGGCTCTGAGTGG	0.627000													18	34					1.37522e-17	1.73792e-17	0.557998	1	0
HEPHL1	341208	broad.mit.edu	37	11	93779059	93779059	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr11:93779059G>A	ENST00000315765.9	+	2	399	c.391G>A	c.(391-393)Gtt>Att	p.V131I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	131	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.V131I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TCCACATGGCGTTTTCTACAA	0.403000													9	39					0	0	0.387290	0	0
IGSF9	57549	broad.mit.edu	37	1	159900162	159900162	+	Silent	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:159900162C>T	ENST00000368094.1	-	15	2078	c.1881G>A	c.(1879-1881)ccG>ccA	p.P627P	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.P611P	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	627	Fibronectin type-III 2.					cell junction|integral to membrane|synapse		p.P611P(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGACCCCGCGGAGGGGACA	0.652000													26	78					0	0	0.667858	0	0
ULK4	54986	broad.mit.edu	37	3	41497018	41497018	+	Silent	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr3:41497018C>T	ENST00000301831.4	-	34	3924	c.3462G>A	c.(3460-3462)ctG>ctA	p.L1154L		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1154							ATP binding|protein serine/threonine kinase activity	p.L1154L(1)|p.L306L(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCAGGTCTGTCAGAGGTCTGT	0.478000													4	88					0	0	0.150653	0	0
FAM124A	220108	broad.mit.edu	37	13	51855250	51855250	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr13:51855250C>A	ENST00000322475.8	+	4	1634	c.1499C>A	c.(1498-1500)gCt>gAt	p.A500D	FAM124A_ENST00000280057.6_Missense_Mutation_p.A536D	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	500								p.A536D(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GCTCCCCCAGCTCCCAGCACC	0.617000													14	43					6.31663e-08	7.41237e-08	0.479597	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457604	45457604	+	RNA	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr12:45457604G>T	ENST00000548424.1	+	0	448																											CATCGTCACTGGTTCTGGATT	0.507000													8	18					3.09899e-07	3.59983e-07	0.307466	1	0
PMS2CL	441194	broad.mit.edu	37	7	6786674	6786674	+	RNA	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr7:6786674C>T	ENST00000486256.1	+	0	1971					NR_002217.1																						TAGCTCCAGTCACTGAAAGGG	0.463000													8	112					0	0	0.435327	0	0
IRS4	8471	broad.mit.edu	37	X	107976069	107976069	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chrX:107976069G>C	ENST00000372129.2	-	1	3582	c.3506C>G	c.(3505-3507)gCt>gGt	p.A1169G		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1169	Ala-rich.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.A1169G(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGCATCAGCAGCATTAGCAAC	0.642000													80	14					0	0	0.870114	0	0
NPBWR1	2831	broad.mit.edu	37	8	53852850	53852850	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:53852850C>T	ENST00000331251.3	+	1	1860	c.383C>T	c.(382-384)aCc>aTc	p.T128I		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	128					synaptic transmission	plasma membrane	opioid receptor activity|protein binding	p.T128I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TACTTCCTCACCGTCATGAGC	0.677000													10	19					0	0	0.361761	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394662	39394662	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr17:39394662G>T	ENST00000254072.6	+	1	366	c.359G>T	c.(358-360)aGc>aTc	p.S120I		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	120	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament		p.S120I(1)		lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTAAACCAGAGCTGTGGCTCC	0.627000													32	54					6.2361e-21	7.96836e-21	0.834066	1	0
KIAA0907	22889	broad.mit.edu	37	1	155891353	155891353	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:155891353T>C	ENST00000368320.3	-	10	1104	c.1079A>G	c.(1078-1080)tAt>tGt	p.Y360C	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Y360C|KIAA0907_ENST00000482337.1_Intron|KIAA0907_ENST00000368319.3_Intron			Q7Z7F0	K0907_HUMAN	KIAA0907	360	Pro-rich.							p.Y360C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ACCAGACTGATAGCCATTGGA	0.488000													20	86					0	0	0.592651	0	0
SYNE1	23345	broad.mit.edu	37	6	152510398	152510398	+	Silent	SNP	G	G	A			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr6:152510398G>A	ENST00000367255.5	-	128	23891	c.23290C>T	c.(23290-23292)Cta>Tta	p.L7764L	SYNE1_ENST00000423061.1_Silent_p.L7693L|SYNE1_ENST00000265368.4_Silent_p.L7764L|SYNE1_ENST00000448038.1_Silent_p.L7693L|SYNE1_ENST00000341594.5_Silent_p.L7376L|SYNE1_ENST00000356820.4_Silent_p.L2288L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7764					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	p.L7764L(2)|p.L7693L(1)		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)		TGGTGGCATAGTTCTTCCCAC	0.433000										HNSCC(10;0.0054)			6	113					0	0	0.248553	0	0
ARID1A	8289	broad.mit.edu	37	1	27057727	27057727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:27057727C>T	ENST00000324856.7	+	3	1806	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q479*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q96*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	479	Poly-Gln.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q479*(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCTCACCCTCAGCAGCAGCA	0.557000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								85	89					0	0	0.870114	0	0
F5	2153	broad.mit.edu	37	1	169512220	169512220	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr1:169512220A>G	ENST00000367796.3	-	13	2324	c.2123T>C	c.(2122-2124)gTc>gCc	p.V708A	F5_ENST00000367797.3_Missense_Mutation_p.V703A			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	703	B.	Cleavage; by activated protein C.			cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.V703A(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTAGCCATGACTGTAGATTC	0.413000													15	300					0	0	0.457914	0	0
KCNB2	9312	broad.mit.edu	37	8	73849192	73849192	+	Silent	SNP	T	T	C			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:73849192T>C	ENST00000523207.1	+	3	2190	c.1602T>C	c.(1600-1602)caT>caC	p.H534H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	534					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.H534H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCCCACAGCATCTGAGTGCCC	0.488000													5	100					0	0	0.184627	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677981	25677983	+	In_Frame_Del	DEL	CGT	CGT	-			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr4:25677981_25677983delCGT	ENST00000382051.3	+	13	1733_1735	c.1683_1685delCGT	c.(1681-1686)ccc>cc	p.PV561del	SLC34A2_ENST00000503434.1_In_Frame_Del_p.PV560del|SLC34A2_ENST00000504570.1_In_Frame_Del_p.PV560del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	561					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.P561P(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCGGGGTTCCCGTCGTCTTCATC	0.606			T	ROS1	NSCLC								38	70	---	---	---	---					
CKMT2	1160	broad.mit.edu	37	5	80550291	80550292	+	Frame_Shift_Ins	INS	-	-	GG	rs146777847	byFrequency	TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr5:80550291_80550292insGG	ENST00000424301.2	+	5	666_667	c.428_429insGG	c.(427-429)agafs	p.R143fs	CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CKMT2_ENST00000254035.4_Frame_Shift_Ins_p.R143fs|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Frame_Shift_Ins_p.R143fs|CTC-281B15.1_ENST00000505295.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	143					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	AAGCACACAACGGATCTGGATG	0.569													10	78	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55242465	55242479	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	rs121913438		TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr7:55242465_55242479delGGAATTAAGAGAAGC	ENST00000275493.2	+	19	2412_2426	c.2235_2249delGGAATTAAGAGAAGC	c.(2233-2250)aaa>aa	p.KELREA745del	EGFR_ENST00000455089.1_In_Frame_Del_p.KELREA700del|EGFR_ENST00000454757.2_In_Frame_Del_p.KELREA692del|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	745	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG	0.479	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			11	50	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66770959	66770959	+	RNA	DEL	T	T	-			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr7:66770959delT	ENST00000416602.2	+	0	265					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				gtcATCTGTATTTTTTTTTTA	0.353													8	228	---	---	---	---					
KCNQ3	3786	broad.mit.edu	37	8	133150232	133150233	+	Frame_Shift_Ins	INS	-	-	T			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr8:133150232_133150233insT	ENST00000388996.4	-	12	2019_2020	c.1599_1600insA	c.(1597-1602)aatcaafs	p.NQ533fs	KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.NQ533fs|KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.NQ413fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	533					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F534I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTCTCCTTGAATTTTTTTTTAT	0.455													7	232	---	---	---	---					
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-75-6207-01A-11D-1753-08	TCGA-75-6207-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a49e3fd-a47d-4b7d-9485-4238a88f4516	77398ded-5ae4-46fd-ac4a-a8b278586dd9	g.chr12:57674205_57674207delTGC	ENST00000402412.1	-	14	1668_1670	c.1278_1280delGCA	c.(1276-1281)caa>ca	p.QQ426del	R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576													7	125	---	---	---	---					
