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
SLC6A2	6530	broad.mit.edu	37	16	55719143	55719143	+	Missense_Mutation	SNP	G	G	A	rs1805066	byFrequency	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr16:55719143G>A	ENST00000379906.2	+	4	988	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	SLC6A2_ENST00000219833.8_Missense_Mutation_p.V245I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V245I|SLC6A2_ENST00000566163.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V140I|SLC6A2_ENST00000568943.1_Missense_Mutation_p.V245I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	245			V -> I (in dbSNP:rs1805066).		synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GATGGTCGTCGTCATCGTCTT	0.527000													19	64					0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	136107733	136107733	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:136107733C>T	ENST00000401392.1	-	5	624	c.412G>A	c.(412-414)Gat>Aat	p.D138N	ZRANB3_ENST00000264159.6_Missense_Mutation_p.D138N|ZRANB3_ENST00000536680.1_Missense_Mutation_p.D138N			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	138	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTCTTTGCATCTGCGGTTAAG	0.373000													5	29					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46341740	46341740	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:46341740C>T	ENST00000245934.7	-	10	1465	c.1221G>A	c.(1219-1221)acG>acA	p.T407T		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	407					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CATTATCAGGCGTCAGCAGAG	0.602000													9	22					0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1226700	1226700	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:1226700C>T	ENST00000338555.2	+	15	2771	c.1627C>T	c.(1627-1629)Ctc>Ttc	p.L543F	SCNN1D_ENST00000325425.8_Missense_Mutation_p.L609F|SCNN1D_ENST00000400928.3_Missense_Mutation_p.L543F|SCNN1D_ENST00000379116.5_Missense_Mutation_p.L707F					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CGTCCTCTCCCTCCTGGAGCT	0.721000													5	21					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555320	10555320	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr8:10555320C>T	ENST00000304519.5	+	3	482	c.453C>T	c.(451-453)ctC>ctT	p.L151L	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	151										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CCCATCCCCTCCCGCTGGCCG	0.652000													34	38					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113168736	113168736	+	Silent	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr9:113168736G>A	ENST00000401783.2	-	38	9480	c.9144C>T	c.(9142-9144)gcC>gcT	p.A3048A	SVEP1_ENST00000297826.5_Silent_p.A974A|SVEP1_ENST00000374469.1_Silent_p.A3025A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3048	Sushi 27.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTGGCCATCGGCTTCACAGG	0.498000													20	50					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063763	9063763	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:9063763G>A	ENST00000397910.4	-	3	23886	c.23683C>T	c.(23683-23685)Cct>Tct	p.P7895S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7897	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCATGACAGGGGATGTAGAG	0.498000													40	70					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890768	70890768	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:70890768G>A	ENST00000264436.4	-	16	2414	c.1970C>T	c.(1969-1971)aCg>aTg	p.T657M	ADD2_ENST00000407644.2_Missense_Mutation_p.T657M|ADD2_ENST00000355733.3_3'UTR	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.T657M(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTCCTCTGCCGTCTGCTCCTC	0.572000													16	151					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33217147	33217147	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr7:33217147A>G	ENST00000242067.6	+	5	907	c.386A>G	c.(385-387)cAt>cGt	p.H129R	BBS9_ENST00000396127.2_Missense_Mutation_p.H129R|BBS9_ENST00000425508.2_Missense_Mutation_p.H84R|BBS9_ENST00000354265.4_Missense_Mutation_p.H129R|BBS9_ENST00000350941.3_Missense_Mutation_p.H129R|BBS9_ENST00000355070.2_Missense_Mutation_p.H129R	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	129					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATGTATGAACATAATCTTCAG	0.343000									Bardet-Biedl syndrome				51	55					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106539	27106539	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:27106539G>A	ENST00000324856.7	+	20	6521	c.6150G>A	c.(6148-6150)tgG>tgA	p.W2050*	ARID1A_ENST00000540690.1_Nonsense_Mutation_p.W378*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.W1833*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.W1667*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2050					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		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)		AGTGGTGGTGGGACTGCTTGG	0.552000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								54	49					0	0	1	0	0
FAM118A	55007	broad.mit.edu	37	22	45719182	45719182	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr22:45719182C>T	ENST00000216214.3	+	4	1008	c.174C>T	c.(172-174)gcC>gcT	p.A58A	FAM118A_ENST00000441876.2_Silent_p.A58A|FAM118A_ENST00000405673.1_Silent_p.A58A	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	58						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCATCGAGGCCGTCATCGAGG	0.642000													5	83					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39760203	39760203	+	Silent	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr12:39760203A>G	ENST00000395670.3	-	6	1271	c.852T>C	c.(850-852)acT>acC	p.T284T	KIF21A_ENST00000361418.5_Silent_p.T284T|KIF21A_ENST00000361961.3_Silent_p.T284T|KIF21A_ENST00000544797.2_Silent_p.T284T|KIF21A_ENST00000541463.2_Silent_p.T284T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	284	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGTAGCTCCAGTACGCTTCA	0.393000													25	53					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904368	5904368	+	Silent	SNP	C	C	T	rs138422072		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr20:5904368C>T	ENST00000378961.4	+	4	1782	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	526						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACCCATACTACGACCCTCTCC	0.438000													6	96					0	0	1	0	0
PMS2CL	441194	broad.mit.edu	37	7	6777303	6777303	+	RNA	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr7:6777303G>T	ENST00000486256.1	+	0	1430					NR_002217.1																						AGTGTTTTAAGAAAGAAGAAA	0.373000													18	53					3.41278e-10	3.7262e-10	1	1	0
PYCR1	5831	broad.mit.edu	37	17	79892987	79892987	+	Missense_Mutation	SNP	G	G	A	rs121918376		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr17:79892987G>A	ENST00000337943.5	-	4	797	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	PYCR1_ENST00000329875.8_Missense_Mutation_p.R119C|PYCR1_ENST00000402252.2_Missense_Mutation_p.R146C|PYCR1_ENST00000577756.1_Missense_Mutation_p.R119C|PYCR1_ENST00000403172.4_Missense_Mutation_p.R119C	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	119			R -> G (in ARCL2B).|R -> H (in ARCL2B).		cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	GTCATGCAGCGGATGACCCTG	0.647000													18	24					0	0	1	0	0
HABP4	22927	broad.mit.edu	37	9	99250477	99250477	+	Missense_Mutation	SNP	G	G	A	rs141094261	byFrequency	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr9:99250477G>A	ENST00000375249.4	+	7	1181	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Missense_Mutation_p.R264H	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	369					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CGTCCTGGGCGTGGAGCCAGA	0.552000													22	33					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940347	144940347	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr8:144940347C>T	ENST00000525985.1	-	2	7146	c.7075G>A	c.(7075-7077)Gtg>Atg	p.V2359M				P58107	EPIPL_HUMAN	epiplakin 1	2359						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCACGTCCACGGGCACGCGG	0.692000													53	759					0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105473459	105473459	+	Silent	SNP	G	G	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:105473459G>C	ENST00000361360.2	+	1	1491	c.1491G>C	c.(1489-1491)acG>acC	p.T497T	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	497					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGCTGCAGACGAGCGTTCAGT	0.766000													4	16					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116619253	116619253	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:116619253G>A	ENST00000260210.4	-	10	1828	c.1805C>T	c.(1804-1806)gCc>gTc	p.A602V	BUD13_ENST00000375445.3_Missense_Mutation_p.A468V	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	602										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTTCTTGCTGGCAAGCCTGGC	0.478000													24	34					0	0	1	0	0
DZANK1	55184	broad.mit.edu	37	20	18371024	18371024	+	Splice_Site	SNP	T	T	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr20:18371024T>G	ENST00000357236.4	-	19	2206	c.1547A>C	c.(1546-1548)gAg>gCg	p.E516A	DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Splice_Site_p.E630A|DZANK1_ENST00000358866.6_Splice_Site_p.E630A|DZANK1_ENST00000329494.5_Splice_Site_p.E608A			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	457						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						AACACTTACCTCATCCAGCAG	0.483000													26	91					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141079602	141079602	+	Silent	SNP	A	A	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:141079602A>T	ENST00000389484.3	-	82	13541	c.12570T>A	c.(12568-12570)tcT>tcA	p.S4190S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4190					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGTGGCCCCAGAAGGATTTA	0.368000										TSP Lung(27;0.18)			48	36					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32486811	32486811	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chrX:32486811A>G	ENST00000357033.4	-	23	3172	c.2966T>C	c.(2965-2967)cTg>cCg	p.L989P	DMD_ENST00000378677.2_Missense_Mutation_p.L985P	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	989					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGCTCTTGCAGAGAACTTTG	0.328000													14	50					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539920	133539920	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:133539920T>G	ENST00000409261.1	-	14	4837	c.4464A>C	c.(4462-4464)caA>caC	p.Q1488H	NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q1488H|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1488							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTGTTTGCACTTGGCCCTTTT	0.507000													11	108					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7797579	7797579	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr17:7797579G>T	ENST00000380358.4	+	7	1249	c.1248G>T	c.(1246-1248)aaG>aaT	p.K416N	CHD3_ENST00000358181.4_Missense_Mutation_p.K357N|CHD3_ENST00000330494.7_Missense_Mutation_p.K357N	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	357					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGAAGAAGAAGAAGGGTAAGG	0.532000													11	45					1.58986e-06	1.68431e-06	1	1	0
F5	2153	broad.mit.edu	37	1	169487767	169487767	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:169487767C>G	ENST00000367796.3	-	23	6444	c.6243G>C	c.(6241-6243)aaG>aaC	p.K2081N	F5_ENST00000367797.3_Missense_Mutation_p.K2076N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2076	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			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)	TGTTTTCTATCTTTCCATTTT	0.448000													5	40					0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	961427	961427	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr4:961427C>T	ENST00000273814.3	-	8	970	c.897G>A	c.(895-897)acG>acA	p.T299T		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	299					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGATCTTCAGCGTTTGCTTCC	0.667000													14	16					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39472816	39472816	+	Silent	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr7:39472816G>T	ENST00000518318.2	+	7	1209	c.1167G>T	c.(1165-1167)ggG>ggT	p.G389G	POU6F2_ENST00000403058.1_Silent_p.G389G|POU6F2_ENST00000559001.1_Silent_p.G334G			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	389	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGTCATTGGGAACCAGATCC	0.612000													12	76					5.50884e-06	5.77888e-06	1	1	0
IGJ	3512	broad.mit.edu	37	4	71522981	71522981	+	Silent	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr4:71522981G>T	ENST00000254801.4	-	3	385	c.216C>A	c.(214-216)atC>atA	p.I72I	IGJ_ENST00000543780.1_Silent_p.I88I|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	72					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TGGGATCAGAGATATTCTCCC	0.323000													18	70					1.96292e-10	2.16529e-10	1	1	0
CA12	771	broad.mit.edu	37	15	63637770	63637770	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr15:63637770C>T	ENST00000178638.3	-	4	775	c.335G>A	c.(334-336)cGc>cAc	p.R112H	CA12_ENST00000422263.2_Missense_Mutation_p.R52H|CA12_ENST00000344366.3_Missense_Mutation_p.R112H	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	112					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	GGCACTGTAGCGAGACTGGAG	0.657000													3	18					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273307	139273307	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr9:139273307G>A	ENST00000298532.2	-	21	3340	c.2972C>T	c.(2971-2973)cCt>cTt	p.P991L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	991	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TGAGAAGACAGGAGCGAGGGG	0.667000													7	7					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61622120	61622120	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:61622120C>A	ENST00000398571.2	-	5	697	c.621G>T	c.(619-621)ttG>ttT	p.L207F		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	207					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GAAGCAAATGCAATGGTACTT	0.328000													4	57					0.184627	0.184627	1	1	0
GDF11	10220	broad.mit.edu	37	12	56143622	56143622	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr12:56143622G>A	ENST00000257868.5	+	3	1217	c.1180G>A	c.(1180-1182)Ggc>Agc	p.G394S		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	394					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						GATTATCTACGGCAAGATCCC	0.572000													34	133					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229587	140229587	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr5:140229587T>G	ENST00000378122.3	+	1	2231	c.1507T>G	c.(1507-1509)Tcg>Gcg	p.S503A	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.S503A|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGCGCTCGCTGTCGAG	0.672000													30	167					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22249087	22249087	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:22249087C>T	ENST00000324559.8	+	7	920	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	201						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTTCCTCATCGAAGATCAGG	0.453000													25	61					0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50659529	50659529	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chrX:50659529C>T	ENST00000252677.3	+	2	1101	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	367					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CAATTAGTGTCCTTATGATTG	0.463000													25	97					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580718	7580718	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr6:7580718A>C	ENST00000379802.3	+	23	4636	c.4295A>C	c.(4294-4296)cAg>cCg	p.Q1432P	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1432	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GACATCCAACAGCAAAAGGCC	0.488000													19	63					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39728847	39728847	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr20:39728847G>A	ENST00000361337.2	+	12	1377	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	376					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	CTGAAGAGACGAATCATGCCC	0.507000			T	NUP98	AML*								24	27					0	0	1	0	0
SNRPG	6637	broad.mit.edu	37	2	70515288	70515288	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:70515288A>T	ENST00000482975.2	-	3	823	c.56T>A	c.(55-57)tTg>tAg	p.L19*	SNRPG_ENST00000438261.1_Nonsense_Mutation_p.L19*|SNRPG_ENST00000454893.1_Nonsense_Mutation_p.L31*|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000413456.2_Nonsense_Mutation_p.L23*|SNRPG_ENST00000449935.2_Nonsense_Mutation_p.L19*|SNRPG_ENST00000272348.2_Nonsense_Mutation_p.L31*			P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	31					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			endometrium(1)	1						AAATCCCCGCAATATTCCTTG	0.358000													6	100					0	0	1	0	0
CYP26C1	340665	broad.mit.edu	37	10	94821038	94821038	+	Silent	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr10:94821038G>A	ENST00000285949.5	+	1	18	c.18G>A	c.(16-18)ctG>ctA	p.L6L		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	6					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CTTGGGGGCTGAGCTGCCTGT	0.711000													6	4					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229323	140229323	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr5:140229323C>T	ENST00000378122.3	+	1	1967	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R415C|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCTGGACCGCGAGAGTGT	0.642000													33	125					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71351227	71351227	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chrX:71351227C>T	ENST00000545866.1	-	1	531	c.164G>A	c.(163-165)cGc>cAc	p.R55H	RGAG4_ENST00000609883.1_Missense_Mutation_p.R55H|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	55										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TACTGGCCAGCGGATGTAGCT	0.587000													19	50					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40752759	40752759	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr4:40752759G>A	ENST00000381782.2	+	2	544	c.49G>A	c.(49-51)Gag>Aag	p.E17K	NSUN7_ENST00000316607.5_Missense_Mutation_p.E17K	NM_024677.4	NP_078953			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGAAGATCCCGAGATCATCTC	0.552000													23	46					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95579563	95579563	+	Splice_Site	SNP	T	T	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr14:95579563T>A	ENST00000526495.1	-	14	2199		c.e14-2		DICER1_ENST00000393063.1_Splice_Site|DICER1_ENST00000541352.1_Splice_Site|DICER1_ENST00000343455.3_Splice_Site|DICER1_ENST00000527414.1_Splice_Site			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III						negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCACAGTATCTGTGAAGAAAA	0.378000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				23	55					0	0	1	0	0
CEP170P1	645455	broad.mit.edu	37	4	119475153	119475153	+	RNA	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr4:119475153C>T	ENST00000412784.2	+	0	864					NR_003135.2																						CTGTTTCAGCCGCAGCTGAAT	0.473000													10	2					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965291	123965291	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr8:123965291C>T	ENST00000314393.4	+	3	2376	c.1541C>T	c.(1540-1542)gCg>gTg	p.A514V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	514						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TTGGCCATCGCGGCCTCCCGA	0.537000													33	18					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84300624	84300624	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr9:84300624C>A	ENST00000376499.3	-	4	1265	c.201G>T	c.(199-201)atG>atT	p.M67I	TLE1_ENST00000376463.1_Missense_Mutation_p.M11I|TLE1_ENST00000376472.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	67	Gln-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ATCCATATGACATTTCATAAT	0.294000													5	11					5.9392e-07	6.35494e-07	1	1	0
ILVBL	10994	broad.mit.edu	37	19	15226826	15226826	+	Missense_Mutation	SNP	G	G	A	rs141415835	by1000genomes	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:15226826G>A	ENST00000263383.3	-	13	1667	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	ILVBL_ENST00000534378.1_Missense_Mutation_p.R403W	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	510	Thiamine pyrophosphate binding (By similarity).		R -> Q (in dbSNP:rs35548653).			integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GCATCTGGCCGGCACAGCTTG	0.597000													4	44					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1631759	1631759	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr17:1631759A>G	ENST00000409644.1	+	1	3506	c.3506A>G	c.(3505-3507)gAg>gGg	p.E1169G	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Missense_Mutation_p.E118G|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		gaggaggaggagggggagcag	0.632000													4	30					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880338	26880338	+	RNA	SNP	G	G	C	rs3118888	by1000genomes	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1																						GCTGAAACATGGAAGGTAAAA	0.483000													3	28					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149508082	149508082	+	RNA	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr7:149508082G>A	ENST00000378016.2	+	0	9476							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTGTGGTTCGTCCATGTGAA	0.607000													12	36					0	0	1	0	0
CTSW	1521	broad.mit.edu	37	11	65649734	65649734	+	Silent	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:65649734G>A	ENST00000528419.1	+	4	379	c.375G>A	c.(373-375)gaG>gaA	p.E125E	CTSW_ENST00000307886.3_Silent_p.E125E			P56202	CATW_HUMAN	cathepsin W	125					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		AAGAGCCAGAGGAGTCAGTAC	0.582000													21	120					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258428	56258428	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:56258428C>A	ENST00000327216.2	-	1	443	c.419G>T	c.(418-420)tGc>tTc	p.C140F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GAGGAAGGAGCACACACTCTT	0.522000													29	44					1.17739e-12	1.3123e-12	1	1	0
FER1L5	90342	broad.mit.edu	37	2	97370381	97370381	+	RNA	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:97370381A>G	ENST00000457909.1	+	0	5629							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CAGGACCCACAAATCACCTGA	0.527000													41	57					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112670808	112670808	+	Splice_Site	SNP	C	C	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr12:112670808C>G	ENST00000550722.1	-	38	5954	c.5559G>C	c.(5557-5559)aaG>aaC	p.K1853N	HECTD4_ENST00000430131.2_Splice_Site_p.K1577N|HECTD4_ENST00000377560.5_Splice_Site_p.K1827N	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		ATGAGGTTACCTTGGTCATGT	0.403000													7	6					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79283540	79283540	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chrX:79283540C>T	ENST00000442340.1	+	8	1044	c.554C>T	c.(553-555)aCt>aTt	p.T185I	TBX22_ENST00000373291.1_Missense_Mutation_p.T185I|TBX22_ENST00000373294.5_Missense_Mutation_p.T305I|TBX22_ENST00000373296.3_Missense_Mutation_p.T305I	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	305					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTTCTTTCACTCTCGATTTT	0.383000													11	15					0	0	1	0	0
GTPBP8	29083	broad.mit.edu	37	3	112715770	112715770	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr3:112715770G>C	ENST00000383677.3	+	3	514	c.499G>C	c.(499-501)Gtt>Ctt	p.V167L	GTPBP8_ENST00000473129.1_Missense_Mutation_p.V50L|GTPBP8_ENST00000383678.2_Missense_Mutation_p.V200L|GTPBP8_ENST00000467752.1_Missense_Mutation_p.V89L	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	200	G.				barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						AGTGGATAGCGTTGTTGGAAT	0.318000													6	64					0	0	1	0	0
SNIP1	79753	broad.mit.edu	37	1	38018319	38018319	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:38018319G>A	ENST00000296215.6	-	2	326	c.254C>T	c.(253-255)tCa>tTa	p.S85L	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	85	Arg-rich.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TCTTCTCCCTGAGGCCTTGTT	0.458000													82	162					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139989	178139989	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr5:178139989G>C	ENST00000335815.2	-	5	1087	c.890C>G	c.(889-891)tCc>tGc	p.S297C		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	297					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACATCTGTAGGATTTCTCCAC	0.378000													24	78					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25349680	25349680	+	RNA	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr15:25349680G>T	ENST00000546682.1	+	0	2150				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GCTGGTCATTGTGCTGCTGGT	0.448000													4	25					0.00909568	0.00918149	1	1	0
TPO	7173	broad.mit.edu	37	2	1544451	1544451	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:1544451G>A	ENST00000345913.4	+	16	2795	c.2704G>A	c.(2704-2706)Gta>Ata	p.V902I	TPO_ENST00000349624.3_Missense_Mutation_p.V729I|TPO_ENST00000329066.4_Missense_Mutation_p.V902I|TPO_ENST00000346956.3_Missense_Mutation_p.V858I|TPO_ENST00000382201.3_Missense_Mutation_p.V845I|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.V729I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	902					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.V902I(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCACCAGGCCGTAGGGACCTC	0.637000													27	73					0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44127538	44127538	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:44127538C>T	ENST00000222374.2	-	9	1159	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	371					cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				AGGAAGGCTTCTCTTGCTTCT	0.592000													42	128					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101571351	101571351	+	Silent	SNP	A	A	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr10:101571351A>T	ENST00000370449.4	+	15	2072	c.1959A>T	c.(1957-1959)acA>acT	p.T653T		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	653	ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CGGAAGCCACAGTCCGAGAGT	0.453000													36	37					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70953310	70953310	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr12:70953310G>T	ENST00000334414.6	-	18	4571	c.4527C>A	c.(4525-4527)aaC>aaA	p.N1509K	PTPRB_ENST00000550358.1_Missense_Mutation_p.N1421K|PTPRB_ENST00000538708.1_Missense_Mutation_p.N1201K|PTPRB_ENST00000551525.1_Missense_Mutation_p.N1508K|PTPRB_ENST00000451516.2_Missense_Mutation_p.N1201K|PTPRB_ENST00000550857.1_Missense_Mutation_p.N1201K|PTPRB_ENST00000261266.5_Missense_Mutation_p.N1291K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1291	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCTCAAAGTCGTTGTAGTCTG	0.493000													66	196					5.00936e-31	5.70214e-31	1	1	0
ZIC1	7545	broad.mit.edu	37	3	147128234	147128234	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr3:147128234C>T	ENST00000282928.4	+	1	1064	c.335C>T	c.(334-336)gCg>gTg	p.A112V		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	112	Poly-Ala.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GACGCGGCGGCGGCAGCCAGC	0.701000													7	70					0	0	1	0	0
FPGT	8790	broad.mit.edu	37	1	74670509	74670509	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:74670509G>A	ENST00000609362.1	+	4	815	c.778G>A	c.(778-780)Gat>Aat	p.D260N	FPGT_ENST00000370894.5_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.D273N|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron	NM_003838.4	NP_003829.3			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TGACATTGCCGATCTTAAATT	0.358000													29	60					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3633236	3633236	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr16:3633236T>C	ENST00000294008.3	-	14	5655	c.5015A>G	c.(5014-5016)cAt>cGt	p.H1672R	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1672	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GATGCTTTCATGATGCTTCCT	0.627000								Direct reversal of damage					54	57					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48052549	48052549	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr15:48052549C>T	ENST00000316364.5	+	3	597	c.158C>T	c.(157-159)tCg>tTg	p.S53L	SEMA6D_ENST00000389428.3_Missense_Mutation_p.S53L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S53L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.S53L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.S53L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S53L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.S53L|SEMA6D_ENST00000558816.1_Missense_Mutation_p.S53L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.S53L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.S53L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S53L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.S53L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	53	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGCAATGAATCGCAGCACAGG	0.408000													9	50					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223984139	223984139	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:223984139C>T	ENST00000391878.2	-	14	2483	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q	TP53BP2_ENST00000343537.7_Missense_Mutation_p.R701Q|TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	695					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCTGAGTGGCCGAGGAATTCT	0.448000													91	102					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201828120	201828120	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:201828120C>T	ENST00000361565.4	+	13	1535	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	489					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTCAACCTCTCAGGTATGTTT	0.463000													14	39					0	0	1	0	0
APOC3	345	broad.mit.edu	37	11	116701559	116701559	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:116701559C>T	ENST00000375345.1	+	3	242	c.180C>T	c.(178-180)acC>acT	p.T60T	APOC3_ENST00000470144.1_3'UTR|APOC3_ENST00000227667.3_Silent_p.T42T			P02656	APOC3_HUMAN	apolipoprotein C-III	42					Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCACCAAGACCGCCAAGGATG	0.647000													6	17					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47197163	47197163	+	Silent	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:47197163G>A	ENST00000433867.1	-	11	2022	c.1545C>T	c.(1543-1545)gaC>gaT	p.D515D	PRKD2_ENST00000595515.1_Silent_p.D515D|PRKD2_ENST00000600194.1_Silent_p.D358D|PRKD2_ENST00000291281.4_Silent_p.D515D|PRKD2_ENST00000601806.1_Silent_p.D358D	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	515					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CGCTGGGTGCGTCCTGAAGGA	0.687000													19	57					0	0	1	0	0
KLK12	43849	broad.mit.edu	37	19	51535178	51535178	+	Silent	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:51535178G>T	ENST00000525263.1	-	3	530	c.411C>A	c.(409-411)ggC>ggA	p.G137G	KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250351.4_Silent_p.G137G|KLK12_ENST00000319590.4_Silent_p.G137G|KLK12_ENST00000250352.11_Intron|CTC-518B2.9_ENST00000594910.1_RNA			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	137	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GGCACTCGGTGCCAGCGGTTG	0.677000													32	87					5.60225e-13	6.3099e-13	1	1	0
SNRPG	6637	broad.mit.edu	37	2	70515306	70515306	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:70515306C>A	ENST00000482975.2	-	3	805	c.38G>T	c.(37-39)aGa>aTa	p.R13I	SNRPG_ENST00000438261.1_Missense_Mutation_p.R13I|SNRPG_ENST00000454893.1_Missense_Mutation_p.R25I|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000413456.2_Missense_Mutation_p.R17I|SNRPG_ENST00000449935.2_Missense_Mutation_p.R13I|SNRPG_ENST00000272348.2_Missense_Mutation_p.R25I			P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	25					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			endometrium(1)	1						TTGGACATGTCTGCCACCATT	0.363000													5	83					0.000602214	0.000613685	1	1	0
TUBBP5	643224	broad.mit.edu	37	9	141070125	141070125	+	RNA	SNP	C	C	T	rs10867114	by1000genomes	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr9:141070125C>T	ENST00000503395.1	+	0	1205																											CGCTCGGGGCCCTTCGGGCAG	0.672000													5	54					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515701	70515701	+	Silent	SNP	G	G	A	rs149109491	byFrequency	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr14:70515701G>A	ENST00000381269.2	-	7	2943	c.2190C>T	c.(2188-2190)taC>taT	p.Y730Y	SLC8A3_ENST00000357887.3_Silent_p.Y728Y|SLC8A3_ENST00000533541.1_Silent_p.Y87Y|SLC8A3_ENST00000394330.2_Silent_p.Y87Y|SLC8A3_ENST00000528359.1_Silent_p.Y728Y|SLC8A3_ENST00000356921.2_Silent_p.Y724Y|SLC8A3_ENST00000534137.1_Silent_p.Y727Y|SLC8A3_ENST00000216568.7_Silent_p.Y101Y	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	730					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGTGCATGACGTAGTCAAAGC	0.572000													28	43					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92623737	92623737	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:92623737G>A	ENST00000298047.6	+	27	13245	c.13228G>A	c.(13228-13230)Gat>Aat	p.D4410N	FAT3_ENST00000409404.2_Missense_Mutation_p.D4378N|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Missense_Mutation_p.D4260N|FAT3_ENST00000533797.1_Missense_Mutation_p.D713N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4410					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAGAACCAGGATGGAGGGTC	0.547000										TCGA Ovarian(4;0.039)			11	24					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72889512	72889512	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr6:72889512A>T	ENST00000264839.7	+	5	706	c.706A>T	c.(706-708)Agc>Tgc	p.S236C	RIMS1_ENST00000491071.2_Missense_Mutation_p.S236C|RIMS1_ENST00000522291.1_Missense_Mutation_p.S236C|RIMS1_ENST00000520567.1_Missense_Mutation_p.S236C|RIMS1_ENST00000518273.1_Missense_Mutation_p.S236C|RIMS1_ENST00000521978.1_Missense_Mutation_p.S236C|RIMS1_ENST00000348717.5_Missense_Mutation_p.S236C|RIMS1_ENST00000517960.1_Missense_Mutation_p.S236C			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	236					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGCTCCTCCCAGCGCACCACC	0.587000													41	22					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228104885	228104885	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr2:228104885C>T	ENST00000396578.3	+	3	333	c.171C>T	c.(169-171)ccC>ccT	p.P57P	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	57	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CTGGACCCCCCGGTTCTCCTG	0.517000													14	2					0	0	1	0	0
PRR7	80758	broad.mit.edu	37	5	176882976	176882976	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr5:176882976C>T	ENST00000323249.3	+	4	1169	c.679C>T	c.(679-681)Cca>Tca	p.P227S	PRR7_ENST00000510492.1_Missense_Mutation_p.P227S|PRR7_ENST00000502922.1_Missense_Mutation_p.P227S	NM_030567.4	NP_085044.2	Q8TB68	PRR7_HUMAN	proline rich 7 (synaptic)	227	Pro-rich.					cell junction|integral to membrane|postsynaptic membrane						all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGCCCTGCCCAGCCCTCTG	0.746000													7	5					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016101	27016101	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr11:27016101A>C	ENST00000318627.2	+	1	474	c.28A>C	c.(28-30)Agt>Cgt	p.S10R		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	10						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CTTCTGCATGAGTTTCTTCTG	0.527000													36	25					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98743230	98743230	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr10:98743230G>A	ENST00000286067.2	+	1	2190	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	695										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAAGATGATGAGAGTGATGC	0.517000													14	55					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233314848	233314848	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr1:233314848T>C	ENST00000258229.9	-	16	3374	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	PCNXL2_ENST00000488780.2_Missense_Mutation_p.H180R	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACGGCTCAGATGGTAAGAAAG	0.527000													16	44					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11325227	11325227	+	Splice_Site	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr19:11325227A>G	ENST00000294618.7	-	33	4215		c.e33+1		DOCK6_ENST00000319867.7_Splice_Site|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATCAAGCCCTACCTGCACGAT	0.557000													24	27					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41142905	41142905	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr21:41142905G>A	ENST00000380588.4	+	4	584	c.481G>A	c.(481-483)Gtt>Att	p.V161I	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	161	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ACCTTGTGAAGTTACTTGTCT	0.468000													34	46					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119115032	119115032	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr9:119115032C>G	ENST00000328252.3	+	16	4381	c.4012C>G	c.(4012-4014)Cca>Gca	p.P1338A	PAPPA_ENST00000534838.1_Missense_Mutation_p.P376A	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1338	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGGTCCTTCCCAGAGGCCCT	0.602000													24	21					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55719143	55719143	+	Missense_Mutation	SNP	G	G	A	rs1805066	byFrequency	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr16:55719143G>A	ENST00000379906.2	+	4	988	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	SLC6A2_ENST00000566163.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.V245I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V140I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V245I|SLC6A2_ENST00000568943.1_Missense_Mutation_p.V245I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	245			V -> I (in dbSNP:rs1805066).		synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GATGGTCGTCGTCATCGTCTT	0.527000													19	64					0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	136107733	136107733	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr2:136107733C>T	ENST00000401392.1	-	5	624	c.412G>A	c.(412-414)Gat>Aat	p.D138N	ZRANB3_ENST00000264159.6_Missense_Mutation_p.D138N|ZRANB3_ENST00000536680.1_Missense_Mutation_p.D138N			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	138	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTCTTTGCATCTGCGGTTAAG	0.373000													5	29					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46341740	46341740	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr19:46341740C>T	ENST00000245934.7	-	10	1465	c.1221G>A	c.(1219-1221)acG>acA	p.T407T		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	407					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CATTATCAGGCGTCAGCAGAG	0.602000													9	22					0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1226700	1226700	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr1:1226700C>T	ENST00000338555.2	+	15	2771	c.1627C>T	c.(1627-1629)Ctc>Ttc	p.L543F	SCNN1D_ENST00000325425.8_Missense_Mutation_p.L609F|SCNN1D_ENST00000400928.3_Missense_Mutation_p.L543F|SCNN1D_ENST00000379116.5_Missense_Mutation_p.L707F					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CGTCCTCTCCCTCCTGGAGCT	0.721000													5	21					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555320	10555320	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr8:10555320C>T	ENST00000304519.5	+	3	482	c.453C>T	c.(451-453)ctC>ctT	p.L151L	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	151										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CCCATCCCCTCCCGCTGGCCG	0.652000													34	38					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9256067	9256067	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr18:9256067A>C	ENST00000262126.4	+	9	3042	c.2802A>C	c.(2800-2802)aaA>aaC	p.K934N	ANKRD12_ENST00000383440.2_Missense_Mutation_p.K911N|ANKRD12_ENST00000400020.3_Missense_Mutation_p.K911N	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGGAGAAAAAAAATAAACAAT	0.313000													13	20					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113168736	113168736	+	Silent	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr9:113168736G>A	ENST00000401783.2	-	38	9480	c.9144C>T	c.(9142-9144)gcC>gcT	p.A3048A	SVEP1_ENST00000374469.1_Silent_p.A3025A|SVEP1_ENST00000297826.5_Silent_p.A974A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3048	Sushi 27.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTGGCCATCGGCTTCACAGG	0.498000													20	50					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063763	9063763	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr19:9063763G>A	ENST00000397910.4	-	3	23886	c.23683C>T	c.(23683-23685)Cct>Tct	p.P7895S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7897	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCATGACAGGGGATGTAGAG	0.498000													40	70					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890768	70890768	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr2:70890768G>A	ENST00000264436.4	-	16	2414	c.1970C>T	c.(1969-1971)aCg>aTg	p.T657M	ADD2_ENST00000407644.2_Missense_Mutation_p.T657M|ADD2_ENST00000355733.3_3'UTR	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.T657M(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTCCTCTGCCGTCTGCTCCTC	0.572000													16	151					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33217147	33217147	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr7:33217147A>G	ENST00000242067.6	+	5	907	c.386A>G	c.(385-387)cAt>cGt	p.H129R	BBS9_ENST00000396127.2_Missense_Mutation_p.H129R|BBS9_ENST00000355070.2_Missense_Mutation_p.H129R|BBS9_ENST00000425508.2_Missense_Mutation_p.H84R|BBS9_ENST00000350941.3_Missense_Mutation_p.H129R|BBS9_ENST00000354265.4_Missense_Mutation_p.H129R	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	129					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATGTATGAACATAATCTTCAG	0.343000									Bardet-Biedl syndrome				51	55					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106539	27106539	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr1:27106539G>A	ENST00000324856.7	+	20	6521	c.6150G>A	c.(6148-6150)tgG>tgA	p.W2050*	ARID1A_ENST00000540690.1_Nonsense_Mutation_p.W378*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.W1833*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.W1667*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2050					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		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)		AGTGGTGGTGGGACTGCTTGG	0.552000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								54	49					0	0	1	0	0
FAM118A	55007	broad.mit.edu	37	22	45719182	45719182	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr22:45719182C>T	ENST00000216214.3	+	4	1008	c.174C>T	c.(172-174)gcC>gcT	p.A58A	FAM118A_ENST00000405673.1_Silent_p.A58A|FAM118A_ENST00000441876.2_Silent_p.A58A	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	58						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCATCGAGGCCGTCATCGAGG	0.642000													5	83					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39760203	39760203	+	Silent	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr12:39760203A>G	ENST00000395670.3	-	6	1271	c.852T>C	c.(850-852)acT>acC	p.T284T	KIF21A_ENST00000361418.5_Silent_p.T284T|KIF21A_ENST00000544797.2_Silent_p.T284T|KIF21A_ENST00000541463.2_Silent_p.T284T|KIF21A_ENST00000361961.3_Silent_p.T284T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	284	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGTAGCTCCAGTACGCTTCA	0.393000													25	53					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904368	5904368	+	Silent	SNP	C	C	T	rs138422072		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr20:5904368C>T	ENST00000378961.4	+	4	1782	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	526						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACCCATACTACGACCCTCTCC	0.438000													6	96					0	0	1	0	0
PMS2CL	441194	broad.mit.edu	37	7	6777303	6777303	+	RNA	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr7:6777303G>T	ENST00000486256.1	+	0	1430					NR_002217.1																						AGTGTTTTAAGAAAGAAGAAA	0.373000													18	53					3.41278e-10	3.72304e-10	1	1	0
PYCR1	5831	broad.mit.edu	37	17	79892987	79892987	+	Missense_Mutation	SNP	G	G	A	rs121918376		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr17:79892987G>A	ENST00000337943.5	-	4	797	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	PYCR1_ENST00000403172.4_Missense_Mutation_p.R119C|PYCR1_ENST00000577756.1_Missense_Mutation_p.R119C|PYCR1_ENST00000329875.8_Missense_Mutation_p.R119C|PYCR1_ENST00000402252.2_Missense_Mutation_p.R146C	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	119			R -> G (in ARCL2B).|R -> H (in ARCL2B).		cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	GTCATGCAGCGGATGACCCTG	0.647000													18	24					0	0	1	0	0
HABP4	22927	broad.mit.edu	37	9	99250477	99250477	+	Missense_Mutation	SNP	G	G	A	rs141094261	byFrequency	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr9:99250477G>A	ENST00000375249.4	+	7	1181	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Missense_Mutation_p.R264H	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	369					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CGTCCTGGGCGTGGAGCCAGA	0.552000													22	33					0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105473459	105473459	+	Silent	SNP	G	G	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr2:105473459G>C	ENST00000361360.2	+	1	1491	c.1491G>C	c.(1489-1491)acG>acC	p.T497T	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	497					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGCTGCAGACGAGCGTTCAGT	0.766000													4	16					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116619253	116619253	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr11:116619253G>A	ENST00000260210.4	-	10	1828	c.1805C>T	c.(1804-1806)gCc>gTc	p.A602V	BUD13_ENST00000375445.3_Missense_Mutation_p.A468V	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	602										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTTCTTGCTGGCAAGCCTGGC	0.478000													24	34					0	0	1	0	0
DZANK1	55184	broad.mit.edu	37	20	18371024	18371024	+	Splice_Site	SNP	T	T	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr20:18371024T>G	ENST00000357236.4	-	19	2206	c.1547A>C	c.(1546-1548)gAg>gCg	p.E516A	DZANK1_ENST00000358866.6_Splice_Site_p.E630A|DZANK1_ENST00000329494.5_Splice_Site_p.E608A|DZANK1_ENST00000262547.5_Splice_Site_p.E630A|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	457						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						AACACTTACCTCATCCAGCAG	0.483000													26	91					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141079602	141079602	+	Silent	SNP	A	A	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr2:141079602A>T	ENST00000389484.3	-	82	13541	c.12570T>A	c.(12568-12570)tcT>tcA	p.S4190S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4190					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGTGGCCCCAGAAGGATTTA	0.368000										TSP Lung(27;0.18)			48	36					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32486811	32486811	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chrX:32486811A>G	ENST00000357033.4	-	23	3172	c.2966T>C	c.(2965-2967)cTg>cCg	p.L989P	DMD_ENST00000378677.2_Missense_Mutation_p.L985P	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	989					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGCTCTTGCAGAGAACTTTG	0.328000													14	50					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539920	133539920	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr2:133539920T>G	ENST00000409261.1	-	14	4837	c.4464A>C	c.(4462-4464)caA>caC	p.Q1488H	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q1488H|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1488							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTGTTTGCACTTGGCCCTTTT	0.507000													11	108					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659741	24659741	+	RNA	SNP	G	G	A	rs144618782	by1000genomes	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr22:24659741G>A	ENST00000414583.2	+	0	3266					NR_003714.1																						CTGTGGGAGGGGGGAATGTTC	0.622000													3	16					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7797579	7797579	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr17:7797579G>T	ENST00000380358.4	+	7	1249	c.1248G>T	c.(1246-1248)aaG>aaT	p.K416N	CHD3_ENST00000330494.7_Missense_Mutation_p.K357N|CHD3_ENST00000358181.4_Missense_Mutation_p.K357N	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	357					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGAAGAAGAAGAAGGGTAAGG	0.532000													11	45					1.58986e-06	1.68339e-06	1	1	0
F5	2153	broad.mit.edu	37	1	169487767	169487767	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr1:169487767C>G	ENST00000367796.3	-	23	6444	c.6243G>C	c.(6241-6243)aaG>aaC	p.K2081N	F5_ENST00000367797.3_Missense_Mutation_p.K2076N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2076	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			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)	TGTTTTCTATCTTTCCATTTT	0.448000													5	40					0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	961427	961427	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr4:961427C>T	ENST00000273814.3	-	8	970	c.897G>A	c.(895-897)acG>acA	p.T299T		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	299					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGATCTTCAGCGTTTGCTTCC	0.667000													14	16					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50721182	50721182	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr22:50721182T>G	ENST00000449103.1	-	18	3085	c.2945A>C	c.(2944-2946)aAc>aCc	p.N982T	PLXNB2_ENST00000359337.4_Missense_Mutation_p.N982T			O15031	PLXB2_HUMAN	plexin B2	982					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGTACGGGGTTTTCGCGGTA	0.677000													7	16					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39472816	39472816	+	Silent	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr7:39472816G>T	ENST00000518318.2	+	7	1209	c.1167G>T	c.(1165-1167)ggG>ggT	p.G389G	POU6F2_ENST00000559001.1_Silent_p.G334G|POU6F2_ENST00000403058.1_Silent_p.G389G			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	389	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGTCATTGGGAACCAGATCC	0.612000													12	76					5.50884e-06	5.77626e-06	1	1	0
IGJ	3512	broad.mit.edu	37	4	71522981	71522981	+	Silent	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr4:71522981G>T	ENST00000254801.4	-	3	385	c.216C>A	c.(214-216)atC>atA	p.I72I	ENAM_ENST00000472903.1_Intron|IGJ_ENST00000543780.1_Silent_p.I88I	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	72					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TGGGATCAGAGATATTCTCCC	0.323000													18	70					1.96292e-10	2.16322e-10	1	1	0
CA12	771	broad.mit.edu	37	15	63637770	63637770	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr15:63637770C>T	ENST00000178638.3	-	4	775	c.335G>A	c.(334-336)cGc>cAc	p.R112H	CA12_ENST00000344366.3_Missense_Mutation_p.R112H|CA12_ENST00000422263.2_Missense_Mutation_p.R52H	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	112					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	GGCACTGTAGCGAGACTGGAG	0.657000													3	18					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273307	139273307	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr9:139273307G>A	ENST00000298532.2	-	21	3340	c.2972C>T	c.(2971-2973)cCt>cTt	p.P991L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	991	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TGAGAAGACAGGAGCGAGGGG	0.667000													7	7					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61622120	61622120	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr2:61622120C>A	ENST00000398571.2	-	5	697	c.621G>T	c.(619-621)ttG>ttT	p.L207F		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	207					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GAAGCAAATGCAATGGTACTT	0.328000													4	57					0.184627	0.184627	1	1	0
PCDHA9	9752	broad.mit.edu	37	5	140229587	140229587	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr5:140229587T>G	ENST00000378122.3	+	1	2231	c.1507T>G	c.(1507-1509)Tcg>Gcg	p.S503A	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.S503A	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGCGCTCGCTGTCGAG	0.672000													30	167					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22249087	22249087	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr11:22249087C>T	ENST00000324559.8	+	7	920	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	201						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTTCCTCATCGAAGATCAGG	0.453000													25	61					0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50659529	50659529	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chrX:50659529C>T	ENST00000252677.3	+	2	1101	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	367					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CAATTAGTGTCCTTATGATTG	0.463000													25	97					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580718	7580718	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr6:7580718A>C	ENST00000379802.3	+	23	4636	c.4295A>C	c.(4294-4296)cAg>cCg	p.Q1432P	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1432	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GACATCCAACAGCAAAAGGCC	0.488000													19	63					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39728847	39728847	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr20:39728847G>A	ENST00000361337.2	+	12	1377	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	376					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	CTGAAGAGACGAATCATGCCC	0.507000			T	NUP98	AML*								24	27					0	0	1	0	0
GDF11	10220	broad.mit.edu	37	12	56143622	56143622	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr12:56143622G>A	ENST00000257868.5	+	3	1217	c.1180G>A	c.(1180-1182)Ggc>Agc	p.G394S		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	394					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						GATTATCTACGGCAAGATCCC	0.572000													34	133					0	0	1	0	0
CYP26C1	340665	broad.mit.edu	37	10	94821038	94821038	+	Silent	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr10:94821038G>A	ENST00000285949.5	+	1	18	c.18G>A	c.(16-18)ctG>ctA	p.L6L		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	6					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CTTGGGGGCTGAGCTGCCTGT	0.711000													6	4					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229323	140229323	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr5:140229323C>T	ENST00000378122.3	+	1	1967	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R415C	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCTGGACCGCGAGAGTGT	0.642000													33	125					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71351227	71351227	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chrX:71351227C>T	ENST00000545866.1	-	1	531	c.164G>A	c.(163-165)cGc>cAc	p.R55H	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R55H	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	55										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TACTGGCCAGCGGATGTAGCT	0.587000													19	50					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51192160	51192160	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr19:51192160C>A	ENST00000293441.1	-	16	2131	c.2113G>T	c.(2113-2115)Gtg>Ttg	p.V705L	SHANK1_ENST00000391813.1_Missense_Mutation_p.V92L|SHANK1_ENST00000359082.3_Missense_Mutation_p.V696L|SHANK1_ENST00000391814.1_Missense_Mutation_p.V705L	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	705	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCTCGTCCACCGACTCCAGG	0.682000													3	7					0.115264	0.116341	1	1	0
NSUN7	79730	broad.mit.edu	37	4	40752759	40752759	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr4:40752759G>A	ENST00000381782.2	+	2	544	c.49G>A	c.(49-51)Gag>Aag	p.E17K	NSUN7_ENST00000316607.5_Missense_Mutation_p.E17K	NM_024677.4	NP_078953			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGAAGATCCCGAGATCATCTC	0.552000													23	46					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95579563	95579563	+	Splice_Site	SNP	T	T	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr14:95579563T>A	ENST00000526495.1	-	14	2199		c.e14-2		DICER1_ENST00000527414.1_Splice_Site|DICER1_ENST00000541352.1_Splice_Site|DICER1_ENST00000393063.1_Splice_Site|DICER1_ENST00000343455.3_Splice_Site			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III						negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCACAGTATCTGTGAAGAAAA	0.378000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				23	55					0	0	1	0	0
CEP170P1	645455	broad.mit.edu	37	4	119475153	119475153	+	RNA	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr4:119475153C>T	ENST00000412784.2	+	0	864					NR_003135.2																						CTGTTTCAGCCGCAGCTGAAT	0.473000													10	2					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965291	123965291	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr8:123965291C>T	ENST00000314393.4	+	3	2376	c.1541C>T	c.(1540-1542)gCg>gTg	p.A514V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	514						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TTGGCCATCGCGGCCTCCCGA	0.537000													33	18					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84300624	84300624	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr9:84300624C>A	ENST00000376499.3	-	4	1265	c.201G>T	c.(199-201)atG>atT	p.M67I	TLE1_ENST00000376463.1_Missense_Mutation_p.M11I|TLE1_ENST00000376472.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	67	Gln-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ATCCATATGACATTTCATAAT	0.294000													5	11					5.9392e-07	6.35083e-07	1	1	0
ILVBL	10994	broad.mit.edu	37	19	15226826	15226826	+	Missense_Mutation	SNP	G	G	A	rs141415835	by1000genomes	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr19:15226826G>A	ENST00000263383.3	-	13	1667	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	ILVBL_ENST00000534378.1_Missense_Mutation_p.R403W	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	510	Thiamine pyrophosphate binding (By similarity).		R -> Q (in dbSNP:rs35548653).			integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GCATCTGGCCGGCACAGCTTG	0.597000													4	44					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1631759	1631759	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr17:1631759A>G	ENST00000409644.1	+	1	3506	c.3506A>G	c.(3505-3507)gAg>gGg	p.E1169G	WDR81_ENST00000309182.5_Missense_Mutation_p.E118G|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		gaggaggaggagggggagcag	0.632000													4	30					0	0	1	0	0
SNRPG	6637	broad.mit.edu	37	2	70515288	70515288	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr2:70515288A>T	ENST00000482975.2	-	3	823	c.56T>A	c.(55-57)tTg>tAg	p.L19*	SNRPG_ENST00000438261.1_Nonsense_Mutation_p.L19*|SNRPG_ENST00000272348.2_Nonsense_Mutation_p.L31*|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000449935.2_Nonsense_Mutation_p.L19*|SNRPG_ENST00000454893.1_Nonsense_Mutation_p.L31*|SNRPG_ENST00000413456.2_Nonsense_Mutation_p.L23*			P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	31					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			endometrium(1)	1						AAATCCCCGCAATATTCCTTG	0.358000													6	100					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149508082	149508082	+	RNA	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr7:149508082G>A	ENST00000378016.2	+	0	9476							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTGTGGTTCGTCCATGTGAA	0.607000													12	36					0	0	1	0	0
CTSW	1521	broad.mit.edu	37	11	65649734	65649734	+	Silent	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr11:65649734G>A	ENST00000528419.1	+	4	379	c.375G>A	c.(373-375)gaG>gaA	p.E125E	CTSW_ENST00000307886.3_Silent_p.E125E			P56202	CATW_HUMAN	cathepsin W	125					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		AAGAGCCAGAGGAGTCAGTAC	0.582000													21	120					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258428	56258428	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr11:56258428C>A	ENST00000327216.2	-	1	443	c.419G>T	c.(418-420)tGc>tTc	p.C140F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GAGGAAGGAGCACACACTCTT	0.522000													29	44					1.17739e-12	1.31091e-12	1	1	0
FER1L5	90342	broad.mit.edu	37	2	97370381	97370381	+	RNA	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr2:97370381A>G	ENST00000457909.1	+	0	5629							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CAGGACCCACAAATCACCTGA	0.527000													41	57					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112670808	112670808	+	Splice_Site	SNP	C	C	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr12:112670808C>G	ENST00000550722.1	-	38	5954	c.5559G>C	c.(5557-5559)aaG>aaC	p.K1853N	HECTD4_ENST00000377560.5_Splice_Site_p.K1827N|HECTD4_ENST00000430131.2_Splice_Site_p.K1577N	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		ATGAGGTTACCTTGGTCATGT	0.403000													7	6					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79283540	79283540	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chrX:79283540C>T	ENST00000442340.1	+	8	1044	c.554C>T	c.(553-555)aCt>aTt	p.T185I	TBX22_ENST00000373296.3_Missense_Mutation_p.T305I|TBX22_ENST00000373291.1_Missense_Mutation_p.T185I|TBX22_ENST00000373294.5_Missense_Mutation_p.T305I	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	305					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTTCTTTCACTCTCGATTTT	0.383000													11	15					0	0	1	0	0
GTPBP8	29083	broad.mit.edu	37	3	112715770	112715770	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr3:112715770G>C	ENST00000383677.3	+	3	514	c.499G>C	c.(499-501)Gtt>Ctt	p.V167L	GTPBP8_ENST00000383678.2_Missense_Mutation_p.V200L|GTPBP8_ENST00000473129.1_Missense_Mutation_p.V50L|GTPBP8_ENST00000467752.1_Missense_Mutation_p.V89L	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	200	G.				barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						AGTGGATAGCGTTGTTGGAAT	0.318000													6	64					0	0	1	0	0
SNIP1	79753	broad.mit.edu	37	1	38018319	38018319	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr1:38018319G>A	ENST00000296215.6	-	2	326	c.254C>T	c.(253-255)tCa>tTa	p.S85L	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	85	Arg-rich.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TCTTCTCCCTGAGGCCTTGTT	0.458000													82	162					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139989	178139989	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr5:178139989G>C	ENST00000335815.2	-	5	1087	c.890C>G	c.(889-891)tCc>tGc	p.S297C		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	297					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACATCTGTAGGATTTCTCCAC	0.378000													24	78					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25349680	25349680	+	RNA	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr15:25349680G>T	ENST00000546682.1	+	0	2150				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GCTGGTCATTGTGCTGCTGGT	0.448000													4	25					0.00909568	0.0092673	1	1	0
TPO	7173	broad.mit.edu	37	2	1544451	1544451	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr2:1544451G>A	ENST00000345913.4	+	16	2795	c.2704G>A	c.(2704-2706)Gta>Ata	p.V902I	TPO_ENST00000382198.1_Missense_Mutation_p.V729I|TPO_ENST00000329066.4_Missense_Mutation_p.V902I|TPO_ENST00000382201.3_Missense_Mutation_p.V845I|TPO_ENST00000349624.3_Missense_Mutation_p.V729I|TPO_ENST00000346956.3_Missense_Mutation_p.V858I|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	902					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.V902I(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCACCAGGCCGTAGGGACCTC	0.637000													27	73					0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44127538	44127538	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr19:44127538C>T	ENST00000222374.2	-	9	1159	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	371					cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				AGGAAGGCTTCTCTTGCTTCT	0.592000													42	128					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101571351	101571351	+	Silent	SNP	A	A	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr10:101571351A>T	ENST00000370449.4	+	15	2072	c.1959A>T	c.(1957-1959)acA>acT	p.T653T		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	653	ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CGGAAGCCACAGTCCGAGAGT	0.453000													36	37					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70953310	70953310	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr12:70953310G>T	ENST00000334414.6	-	18	4571	c.4527C>A	c.(4525-4527)aaC>aaA	p.N1509K	PTPRB_ENST00000550857.1_Missense_Mutation_p.N1201K|PTPRB_ENST00000550358.1_Missense_Mutation_p.N1421K|PTPRB_ENST00000261266.5_Missense_Mutation_p.N1291K|PTPRB_ENST00000538708.1_Missense_Mutation_p.N1201K|PTPRB_ENST00000451516.2_Missense_Mutation_p.N1201K|PTPRB_ENST00000551525.1_Missense_Mutation_p.N1508K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1291	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCTCAAAGTCGTTGTAGTCTG	0.493000													66	196					5.00936e-31	5.69485e-31	1	1	0
ZIC1	7545	broad.mit.edu	37	3	147128234	147128234	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr3:147128234C>T	ENST00000282928.4	+	1	1064	c.335C>T	c.(334-336)gCg>gTg	p.A112V		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	112	Poly-Ala.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GACGCGGCGGCGGCAGCCAGC	0.701000													7	70					0	0	1	0	0
FPGT	8790	broad.mit.edu	37	1	74670509	74670509	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr1:74670509G>A	ENST00000609362.1	+	4	815	c.778G>A	c.(778-780)Gat>Aat	p.D260N	FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000534056.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.D273N|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.5_Intron	NM_003838.4	NP_003829.3			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TGACATTGCCGATCTTAAATT	0.358000													29	60					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3633236	3633236	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr16:3633236T>C	ENST00000294008.3	-	14	5655	c.5015A>G	c.(5014-5016)cAt>cGt	p.H1672R	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1672	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GATGCTTTCATGATGCTTCCT	0.627000								Direct reversal of damage					54	57					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48052549	48052549	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr15:48052549C>T	ENST00000316364.5	+	3	597	c.158C>T	c.(157-159)tCg>tTg	p.S53L	SEMA6D_ENST00000358066.4_Missense_Mutation_p.S53L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S53L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.S53L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.S53L|SEMA6D_ENST00000558816.1_Missense_Mutation_p.S53L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.S53L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.S53L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S53L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.S53L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S53L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.S53L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	53	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGCAATGAATCGCAGCACAGG	0.408000													9	50					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223984139	223984139	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr1:223984139C>T	ENST00000391878.2	-	14	2483	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.R701Q	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	695					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCTGAGTGGCCGAGGAATTCT	0.448000													91	102					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201828120	201828120	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr1:201828120C>T	ENST00000361565.4	+	13	1535	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	489					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTCAACCTCTCAGGTATGTTT	0.463000													14	39					0	0	1	0	0
APOC3	345	broad.mit.edu	37	11	116701559	116701559	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr11:116701559C>T	ENST00000375345.1	+	3	242	c.180C>T	c.(178-180)acC>acT	p.T60T	APOC3_ENST00000227667.3_Silent_p.T42T|APOC3_ENST00000470144.1_3'UTR			P02656	APOC3_HUMAN	apolipoprotein C-III	42					Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCACCAAGACCGCCAAGGATG	0.647000													6	17					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47197163	47197163	+	Silent	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr19:47197163G>A	ENST00000433867.1	-	11	2022	c.1545C>T	c.(1543-1545)gaC>gaT	p.D515D	PRKD2_ENST00000601806.1_Silent_p.D358D|PRKD2_ENST00000291281.4_Silent_p.D515D|PRKD2_ENST00000595515.1_Silent_p.D515D|PRKD2_ENST00000600194.1_Silent_p.D358D	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	515					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CGCTGGGTGCGTCCTGAAGGA	0.687000													19	57					0	0	1	0	0
KLK12	43849	broad.mit.edu	37	19	51535178	51535178	+	Silent	SNP	G	G	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr19:51535178G>T	ENST00000525263.1	-	3	530	c.411C>A	c.(409-411)ggC>ggA	p.G137G	KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250351.4_Silent_p.G137G|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000319590.4_Silent_p.G137G			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	137	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GGCACTCGGTGCCAGCGGTTG	0.677000													32	87					5.60225e-13	6.30253e-13	1	1	0
SNRPG	6637	broad.mit.edu	37	2	70515306	70515306	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr2:70515306C>A	ENST00000482975.2	-	3	805	c.38G>T	c.(37-39)aGa>aTa	p.R13I	SNRPG_ENST00000438261.1_Missense_Mutation_p.R13I|SNRPG_ENST00000272348.2_Missense_Mutation_p.R25I|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000449935.2_Missense_Mutation_p.R13I|SNRPG_ENST00000454893.1_Missense_Mutation_p.R25I|SNRPG_ENST00000413456.2_Missense_Mutation_p.R17I			P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	25					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			endometrium(1)	1						TTGGACATGTCTGCCACCATT	0.363000													5	83					0.000602214	0.000625376	1	1	0
TUBBP5	643224	broad.mit.edu	37	9	141070125	141070125	+	RNA	SNP	C	C	T	rs10867114	by1000genomes	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr9:141070125C>T	ENST00000503395.1	+	0	1205																											CGCTCGGGGCCCTTCGGGCAG	0.672000													5	54					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515701	70515701	+	Silent	SNP	G	G	A	rs149109491	byFrequency	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr14:70515701G>A	ENST00000381269.2	-	7	2943	c.2190C>T	c.(2188-2190)taC>taT	p.Y730Y	SLC8A3_ENST00000528359.1_Silent_p.Y728Y|SLC8A3_ENST00000216568.7_Silent_p.Y101Y|SLC8A3_ENST00000394330.2_Silent_p.Y87Y|SLC8A3_ENST00000357887.3_Silent_p.Y728Y|SLC8A3_ENST00000533541.1_Silent_p.Y87Y|SLC8A3_ENST00000356921.2_Silent_p.Y724Y|SLC8A3_ENST00000534137.1_Silent_p.Y727Y	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	730					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGTGCATGACGTAGTCAAAGC	0.572000													28	43					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92623737	92623737	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr11:92623737G>A	ENST00000298047.6	+	27	13245	c.13228G>A	c.(13228-13230)Gat>Aat	p.D4410N	FAT3_ENST00000533797.1_Missense_Mutation_p.D713N|FAT3_ENST00000409404.2_Missense_Mutation_p.D4378N|FAT3_ENST00000525166.1_Missense_Mutation_p.D4260N|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4410					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAGAACCAGGATGGAGGGTC	0.547000										TCGA Ovarian(4;0.039)			11	24					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72889512	72889512	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr6:72889512A>T	ENST00000264839.7	+	5	706	c.706A>T	c.(706-708)Agc>Tgc	p.S236C	RIMS1_ENST00000517960.1_Missense_Mutation_p.S236C|RIMS1_ENST00000491071.2_Missense_Mutation_p.S236C|RIMS1_ENST00000518273.1_Missense_Mutation_p.S236C|RIMS1_ENST00000522291.1_Missense_Mutation_p.S236C|RIMS1_ENST00000521978.1_Missense_Mutation_p.S236C|RIMS1_ENST00000520567.1_Missense_Mutation_p.S236C|RIMS1_ENST00000348717.5_Missense_Mutation_p.S236C			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	236					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGCTCCTCCCAGCGCACCACC	0.587000													41	22					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228104885	228104885	+	Silent	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr2:228104885C>T	ENST00000396578.3	+	3	333	c.171C>T	c.(169-171)ccC>ccT	p.P57P	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	57	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CTGGACCCCCCGGTTCTCCTG	0.517000													14	2					0	0	1	0	0
PRR7	80758	broad.mit.edu	37	5	176882976	176882976	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr5:176882976C>T	ENST00000323249.3	+	4	1169	c.679C>T	c.(679-681)Cca>Tca	p.P227S	PRR7_ENST00000510492.1_Missense_Mutation_p.P227S|PRR7_ENST00000502922.1_Missense_Mutation_p.P227S	NM_030567.4	NP_085044.2	Q8TB68	PRR7_HUMAN	proline rich 7 (synaptic)	227	Pro-rich.					cell junction|integral to membrane|postsynaptic membrane						all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGCCCTGCCCAGCCCTCTG	0.746000													7	5					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016101	27016101	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr11:27016101A>C	ENST00000318627.2	+	1	474	c.28A>C	c.(28-30)Agt>Cgt	p.S10R		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	10						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CTTCTGCATGAGTTTCTTCTG	0.527000													36	25					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98743230	98743230	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr10:98743230G>A	ENST00000286067.2	+	1	2190	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	695										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAAGATGATGAGAGTGATGC	0.517000													14	55					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233314848	233314848	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr1:233314848T>C	ENST00000258229.9	-	16	3374	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	PCNXL2_ENST00000488780.2_Missense_Mutation_p.H180R	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACGGCTCAGATGGTAAGAAAG	0.527000													16	44					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11325227	11325227	+	Splice_Site	SNP	A	A	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr19:11325227A>G	ENST00000294618.7	-	33	4215		c.e33+1		DOCK6_ENST00000319867.7_Splice_Site|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATCAAGCCCTACCTGCACGAT	0.557000													24	27					0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135374123	135374123	+	Silent	SNP	C	C	G	rs149842561	byFrequency	TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr9:135374123C>G	ENST00000343036.2	+	3	393	c.345C>G	c.(343-345)ccC>ccG	p.P115P	C9orf171_ENST00000393216.2_Silent_p.P79P|C9orf171_ENST00000393215.3_Silent_p.P79P	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	115										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						ACAGTCTGCCCGGCATTAATT	0.552000													4	8					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41142905	41142905	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr21:41142905G>A	ENST00000380588.4	+	4	584	c.481G>A	c.(481-483)Gtt>Att	p.V161I	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	161	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ACCTTGTGAAGTTACTTGTCT	0.468000													34	46					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119115032	119115032	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr9:119115032C>G	ENST00000328252.3	+	16	4381	c.4012C>G	c.(4012-4014)Cca>Gca	p.P1338A	PAPPA_ENST00000534838.1_Missense_Mutation_p.P376A	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1338	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGGTCCTTCCCAGAGGCCCT	0.602000													24	21					0	0	1	0	0
RBM17	84991	broad.mit.edu	37	10	6139098	6139098	+	Frame_Shift_Del	DEL	A	A	-			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr10:6139098delA	ENST00000446108.1	+	2	714	c.70delA	c.(70-72)aaafs	p.K24fs	RBM17_ENST00000379888.4_Frame_Shift_Del_p.K24fs	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	24					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CAAAAACTTCAAACTTCTGCA	0.478													32	101	---	---	---	---					
NTF3	4908	broad.mit.edu	37	12	5603608	5603609	+	Frame_Shift_Ins	INS	-	-	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr12:5603608_5603609insC	ENST00000423158.3	+	2	479_480	c.267_268insC	c.(268-270)cccfs	p.P90fs	NTF3_ENST00000331010.6_Frame_Shift_Ins_p.P77fs|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	77					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AGCGGGGAGGGCCCGCCAAGTC	0.579													37	87	---	---	---	---					
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	5932e398-bfdc-4fe1-be15-7cd106121d8e	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_ENST00000407260.4_In_Frame_Del_p.312_313EE>E|RANGAP1_ENST00000405486.1_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000356244.3_In_Frame_Del_p.367_368EE>E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562													8	120	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													3	5	---	---	---	---					
RAB11FIP1	80223	broad.mit.edu	37	8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aaafs	p.K1129fs	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	1304	---	---	---	---					
FGFR1	2260	broad.mit.edu	37	8	38285914	38285916	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr8:38285914_38285916delTCA	ENST00000447712.2	-	4	1337_1339	c.396_398delTGA	c.(394-399)gatgac>gac	p.132_133DD>D	FGFR1_ENST00000532791.1_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000397108.4_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000356207.5_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000397113.2_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000397103.1_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000341462.5_In_Frame_Del_p.135_136DD>D|FGFR1_ENST00000335922.5_In_Frame_Del_p.124_125DD>D|FGFR1_ENST00000326324.6_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000425967.3_In_Frame_Del_p.165_166DD>D|FGFR1_ENST00000397091.5_In_Frame_Del_p.132_133DD>D	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	132					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.D133N(3)|p.D44N(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TGAAGAGGAGtcatcatcatcat	0.498		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						7	259	---	---	---	---					
RBM17	84991	broad.mit.edu	37	10	6139098	6139098	+	Frame_Shift_Del	DEL	A	A	-			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr10:6139098delA	ENST00000446108.1	+	2	714	c.70delA	c.(70-72)aaafs	p.K24fs	RBM17_ENST00000379888.4_Frame_Shift_Del_p.K24fs	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	24					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CAAAAACTTCAAACTTCTGCA	0.478													32	101	---	---	---	---					
NTF3	4908	broad.mit.edu	37	12	5603608	5603609	+	Frame_Shift_Ins	INS	-	-	C			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr12:5603608_5603609insC	ENST00000423158.3	+	2	479_480	c.267_268insC	c.(268-270)cccfs	p.P90fs	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Frame_Shift_Ins_p.P77fs	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	77					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AGCGGGGAGGGCCCGCCAAGTC	0.579													37	87	---	---	---	---					
SLFN12	55106	broad.mit.edu	37	17	33749492	33749493	+	Frame_Shift_Ins	INS	-	-	A			TCGA-K4-A3WV-01A-11D-A22Z-08	TCGA-K4-A3WV-11A-21D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dfb4032-2018-461a-b267-73b5e726dc42	32082b44-c263-4b92-bdc7-937d36e31165	g.chr17:33749492_33749493insA	ENST00000394562.1	-	4	1078_1079	c.555_556insT	c.(553-558)tttgatfs	p.D186fs	SLFN12_ENST00000452764.3_Frame_Shift_Ins_p.D186fs|SLFN12_ENST00000304905.5_Frame_Shift_Ins_p.D186fs			Q8IYM2	SLN12_HUMAN	schlafen family member 12	186							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGTTCTATCAAAAAAAACCC	0.366													42	90	---	---	---	---					
