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
SNCB	6620	broad.mit.edu	37	5	176056603	176056603	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:176056603G>T	ENST00000310112.3	-	3	303	c.53C>A	c.(52-54)gCc>gAc	p.A18D	SNCB_ENST00000506696.1_Missense_Mutation_p.A18D|SNCB_ENST00000393693.2_Missense_Mutation_p.A18D|SNCB_ENST00000510387.1_Missense_Mutation_p.A18D	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	18							calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTCTCCGCGGCTGCCACAAC	0.677000													6	11					5.18039e-06	6.20246e-06	0.278610	1	0
PGK2	5232	broad.mit.edu	37	6	49754737	49754737	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:49754737G>T	ENST00000304801.3	-	1	316	c.164C>A	c.(163-165)gCc>gAc	p.A55D		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	55					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TACTGCCTTGGCTCCATTGTC	0.463000													20	42					2.70639e-06	3.27949e-06	0.624587	1	0
HS6ST3	266722	broad.mit.edu	37	13	97485369	97485369	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:97485369A>T	ENST00000376705.2	+	2	1357	c.1333A>T	c.(1333-1335)Agg>Tgg	p.R445W		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	445						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GCGAGAGCACAGGGACCACCA	0.617000													13	26					0	0	0.411799	0	0
SCUBE1	80274	broad.mit.edu	37	22	43687139	43687139	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:43687139C>A	ENST00000360835.3	-	4	523	c.397G>T	c.(397-399)Gtc>Ttc	p.V133F	SCUBE1_ENST00000290460.7_Missense_Mutation_p.V133F	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	133	EGF-like 3; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				ATGGCATTGACGCAGATCTGC	0.527000													15	32					1.50039e-11	2.17962e-11	0.608945	1	0
OR7A5	26659	broad.mit.edu	37	19	14938234	14938234	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:14938234C>A	ENST00000322301.3	-	2	907	c.820G>T	c.(820-822)Gcc>Tcc	p.A274S	OR7A5_ENST00000594432.1_Missense_Mutation_p.A274S|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						ATCACTGAGGCTGTTGCACTT	0.473000													29	28					8.53417e-09	1.13865e-08	0.769981	1	0
TBC1D9	23158	broad.mit.edu	37	4	141543529	141543529	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:141543529C>A	ENST00000442267.2	-	21	3695	c.3621G>T	c.(3619-3621)cgG>cgT	p.R1207R		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1207						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGCCCAGTCCCGGTCCAGGC	0.637000													6	12					0.00116845	0.00126512	0.217242	1	0
PREX2	80243	broad.mit.edu	37	8	69011923	69011923	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:69011923G>T	ENST00000288368.4	+	23	2837	c.2560G>T	c.(2560-2562)Gaa>Taa	p.E854*	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	854					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCAGATTCTTGAAGCCCTGGC	0.388000													26	71					3.73988e-18	6.20565e-18	0.706142	1	0
ZNF230	7773	broad.mit.edu	37	19	44514466	44514466	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:44514466G>T	ENST00000429154.2	+	5	503	c.275G>T	c.(274-276)tGc>tTc	p.C92F		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	92	KRNB.			C -> V (in Ref. 1; AAB62180).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GACTGCCCTTGCCAGCAAATC	0.453000													16	54					1.01871e-10	1.43959e-10	0.575678	1	0
NAPSA	9476	broad.mit.edu	37	19	50868854	50868854	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:50868854G>A	ENST00000253719.2	-	1	233	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	9					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		agcagcaggggttgcagcagc	0.602000													12	8					0	0	0.387290	0	0
SPOPL	339745	broad.mit.edu	37	2	139322383	139322383	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:139322383G>A	ENST00000280098.4	+	9	1322	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	315						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GCACAGTGCAGAACAGTTGAA	0.403000													42	126					0	0	0.859065	0	0
KCNS1	3787	broad.mit.edu	37	20	43723683	43723683	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:43723683A>T	ENST00000306117.1	-	5	1805	c.1409T>A	c.(1408-1410)cTg>cAg	p.L470Q	KCNS1_ENST00000537075.1_Missense_Mutation_p.L470Q	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	470						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GGCTGCCTCCAGAGCCTTCTG	0.582000													29	106					0	0	0.760397	0	0
HRNR	388697	broad.mit.edu	37	1	152191721	152191721	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:152191721C>A	ENST00000368801.2	-	3	2459	c.2384G>T	c.(2383-2385)gGg>gTg	p.G795V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	795					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGCCAGACCCGTGTTGGCC	0.602000													30	16					1.50538e-07	1.91351e-07	0.706142	1	0
COBLL1	22837	broad.mit.edu	37	2	165559624	165559624	+	Silent	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:165559624T>C	ENST00000342193.4	-	9	1547	c.1332A>G	c.(1330-1332)acA>acG	p.T444T	COBLL1_ENST00000409184.3_Intron|COBLL1_ENST00000392717.2_Silent_p.T482T|COBLL1_ENST00000375458.2_Intron|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000194871.6_Silent_p.T510T	NM_014900.3	NP_055715.3	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	482										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ATGTCAATGATGTTATGGCTG	0.502000													131	144					0	0	0.870114	0	0
CEACAM6	4680	broad.mit.edu	37	19	42270096	42270096	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:42270096G>T	ENST00000199764.6	+	5	1182	c.964G>T	c.(964-966)Gct>Tct	p.A322S	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	322					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ACAAGGAAGTGCTCCTGTCCT	0.507000													22	98					2.00529e-23	3.52978e-23	0.654019	1	0
UGT3A1	133688	broad.mit.edu	37	5	35955804	35955804	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:35955804T>A	ENST00000274278.3	-	6	1595	c.1238A>T	c.(1237-1239)aAt>aTt	p.N413I	UGT3A1_ENST00000503189.1_Missense_Mutation_p.N413I|UGT3A1_ENST00000507113.1_Missense_Mutation_p.N379I	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	413						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGACCTGATTCAACCGGAT	0.468000													29	72					0	0	0.788014	0	0
SERPINE2	5270	broad.mit.edu	37	2	224862913	224862913	+	Missense_Mutation	SNP	A	A	G	rs11548971		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:224862913A>G	ENST00000409840.3	-	4	1066	c.406T>C	c.(406-408)Tgt>Cgt	p.C136R	SERPINE2_ENST00000258405.4_Missense_Mutation_p.C136R|SERPINE2_ENST00000409304.1_Missense_Mutation_p.C136R|SERPINE2_ENST00000447280.2_Missense_Mutation_p.C148R			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	136					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CGGACCTCACACTGGAACACA	0.448000													9	32					0	0	0.361761	0	0
CYLC2	1539	broad.mit.edu	37	9	105767107	105767107	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:105767107C>A	ENST00000374798.3	+	4	381	c.311C>A	c.(310-312)aCt>aAt	p.T104N	CYLC2_ENST00000487798.1_Missense_Mutation_p.T104N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	104	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CCAACTCGTACTGTCGAGGTG	0.368000													4	13					0.000602214	0.000658672	0.184627	1	0
LATS1	9113	broad.mit.edu	37	6	150001244	150001244	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:150001244C>A	ENST00000543571.1	-	5	2907	c.2360G>T	c.(2359-2361)gGg>gTg	p.G787V	LATS1_ENST00000253339.5_Missense_Mutation_p.G787V|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	787	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CATATCACCCCCAGGAATGTA	0.388000													21	77					1.50039e-11	2.17962e-11	0.608945	1	0
SVOPL	136306	broad.mit.edu	37	7	138305866	138305866	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:138305866C>A	ENST00000421622.1	-	10	1126	c.918G>T	c.(916-918)acG>acT	p.T306T	SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000288513.5_Silent_p.T274T|SVOPL_ENST00000436657.1_Silent_p.T274T|SVOPL_ENST00000419765.3_Silent_p.T426T			Q8N434	SVOPL_HUMAN	SVOP-like	426						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AAGCGCGCATCGTGGTGGGGT	0.602000													8	40					2.80697e-09	3.80928e-09	0.387290	1	0
OR4A15	81328	broad.mit.edu	37	11	55135425	55135425	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55135425G>A	ENST00000314706.3	+	1	66	c.66G>A	c.(64-66)ctG>ctA	p.L22L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TCCGACACCTGAGTCCAACAC	0.408000													6	32					0	0	0.248553	0	0
TANC2	26115	broad.mit.edu	37	17	61417549	61417549	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:61417549C>T	ENST00000424789.2	+	10	1445	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	TANC2_ENST00000389520.4_Missense_Mutation_p.R481C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	481							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTTGCTCTGCCGCTCACCTCA	0.527000													48	39					0	0	0.870114	0	0
ANAPC1	64682	broad.mit.edu	37	2	112615883	112615883	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:112615883C>A	ENST00000341068.3	-	11	2130	c.1358_splice	c.e11+1	p.R453_splice		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	453					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ATACACCTACCGTAACTGGAG	0.338000													8	28					0.00448238	0.00473402	0.307466	1	0
RFPL3	10738	broad.mit.edu	37	22	32756382	32756382	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:32756382C>A	ENST00000249007.4	+	2	722	c.517C>A	c.(517-519)Cct>Act	p.P173T	RFPL3_ENST00000397468.1_Missense_Mutation_p.P144T|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.P144T	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	173	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CCTGGGCTCCCCTCGCTTTAC	0.562000													32	64					8.16904e-11	1.16424e-10	0.834066	1	0
STON2	85439	broad.mit.edu	37	14	81743600	81743600	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:81743600G>C	ENST00000555447.1	-	6	2467	c.2055C>G	c.(2053-2055)acC>acG	p.T685T	STON2_ENST00000267540.2_Silent_p.T685T	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	685	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGAAAGGCAAGGTCTTCTCAG	0.537000													32	98					0	0	0.796494	0	0
TRRAP	8295	broad.mit.edu	37	7	98564667	98564667	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:98564667C>T	ENST00000359863.4	+	49	7368	c.7159C>T	c.(7159-7161)Cct>Tct	p.P2387S	TRRAP_ENST00000355540.3_Missense_Mutation_p.P2369S|TRRAP_ENST00000446306.3_Missense_Mutation_p.P2369S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2387	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CATACAGACACCTACACTCCG	0.358000													11	39					0	0	0.435327	0	0
MAN1A1	4121	broad.mit.edu	37	6	119669822	119669822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:119669822C>A	ENST00000368468.3	-	2	850	c.409G>T	c.(409-411)Gag>Tag	p.E137*	MAN1A1_ENST00000368466.2_Nonsense_Mutation_p.E137*	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	137					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TGCAGGGTCTCCTTGGCTTCC	0.657000													9	39					9.70103e-10	1.34439e-09	0.361761	1	0
KCNJ12	3768	broad.mit.edu	37	17	21318894	21318894	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:21318894G>T	ENST00000583088.1	+	3	1135	c.240G>T	c.(238-240)tgG>tgT	p.W80C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.W80C	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		ACATCCGCTGGCGGTACATGC	0.572000										Prostate(3;0.18)			13	77					3.70931e-20	6.26545e-20	0.539581	1	0
MYO3A	53904	broad.mit.edu	37	10	26417319	26417319	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:26417319G>T	ENST00000265944.5	+	20	2280		c.e20-1		MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA						protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATTCTTCTAGTGGGAATGGT	0.353000													6	45					1.12685e-05	1.327e-05	0.307466	1	0
DNER	92737	broad.mit.edu	37	2	230456418	230456418	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:230456418G>T	ENST00000341772.4	-	2	597	c.463C>A	c.(463-465)Cct>Act	p.P155T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	155					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GCAGGAACAGGCTGAAGCTGT	0.557000													8	51					2.17888e-05	2.52636e-05	0.335167	1	0
GPR25	2848	broad.mit.edu	37	1	200842866	200842866	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:200842866A>T	ENST00000304244.2	+	1	784	c.701A>T	c.(700-702)cAc>cTc	p.H234L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	234						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CGGCCGCCGCACGTGGGTCGG	0.687000													20	62					0	0	0.706142	0	0
RENBP	5973	broad.mit.edu	37	X	153205581	153205581	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:153205581G>T	ENST00000393700.3	-	9	1131	c.1051C>A	c.(1051-1053)Caa>Aaa	p.Q351K	RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.Q337K	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	351					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TCAGCCACTTGGTAGAAGAGG	0.607000													21	18					1.10513e-12	1.66323e-12	0.624587	1	0
TCTN2	79867	broad.mit.edu	37	12	124172603	124172603	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:124172603C>T	ENST00000303372.5	+	7	898	c.770C>T	c.(769-771)cCc>cTc	p.P257L	TCTN2_ENST00000426174.2_Missense_Mutation_p.P256L	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	257					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TTCAGTTCCCCCAAACAGGAC	0.363000													13	59					0	0	0.500413	0	0
OAF	220323	broad.mit.edu	37	11	120097704	120097704	+	Splice_Site	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:120097704A>T	ENST00000328965.4	+	3	1059	c.547_splice	c.e3+1	p.Q182_splice	OAF_ENST00000531220.1_Splice_Site_p.Q66_splice	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	182								p.Q182Q(1)		kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GGCTGGAGCAAGGTCAGCTGG	0.662000													9	11					0	0	0.387290	0	0
TET2	54790	broad.mit.edu	37	4	106155435	106155435	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:106155435G>A	ENST00000540549.1	+	3	1196	c.336G>A	c.(334-336)ttG>ttA	p.L112L	TET2_ENST00000380013.4_Silent_p.L112L|TET2_ENST00000545826.1_Silent_p.L112L|TET2_ENST00000513237.1_Silent_p.L133L|TET2_ENST00000305737.2_Silent_p.L112L|TET2_ENST00000394764.1_Silent_p.L112L|TET2_ENST00000413648.2_Silent_p.L112L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	112					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCAAGAAATTGAAACAAGACC	0.423000			"""Mis N, F"""		MDS								4	25					0	0	0.150653	0	0
DAB2	1601	broad.mit.edu	37	5	39390546	39390546	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:39390546C>A	ENST00000320816.6	-	5	929	c.462_splice	c.e5+1	p.Q154_splice	DAB2_ENST00000509337.1_Splice_Site_p.Q154_splice|DAB2_ENST00000545653.1_Splice_Site_p.Q154_splice|DAB2_ENST00000339788.6_Splice_Site_p.Q154_splice|DAB2_ENST00000512525.1_5'UTR	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	154	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TAGAGCTCACCTGTTGCCCGG	0.453000													12	51					3.52763e-06	4.25067e-06	0.520397	1	0
GPR63	81491	broad.mit.edu	37	6	97247545	97247545	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:97247545C>A	ENST00000229955.3	-	2	408	c.63G>T	c.(61-63)gtG>gtT	p.V21V	GPR63_ENST00000417980.1_Silent_p.V21V	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	21			V -> M (in dbSNP:rs35358396).			integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TGTTTTCATACACGACAAATG	0.468000													11	81					7.03913e-09	9.40842e-09	0.411799	1	0
MIR371B	100616185	broad.mit.edu	37	19	54290961	54290961	+	RNA	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:54290961C>G	ENST00000595160.1	-	0	335				MIR371A_ENST00000362161.1_RNA	NR_029864.1|NR_029865.1|NR_039909.1																						ACTTTCTGCTCTCTGGTGAAA	0.542000													26	20					0	0	0.729181	0	0
PKDREJ	10343	broad.mit.edu	37	22	46652574	46652574	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:46652574C>T	ENST00000253255.5	-	1	6645	c.6646G>A	c.(6646-6648)Gag>Aag	p.E2216K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2216					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACTCAGGCTCATCTTTGGCC	0.478000													14	38					0	0	0.479597	0	0
WASF1	8936	broad.mit.edu	37	6	110422792	110422792	+	Splice_Site	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:110422792T>G	ENST00000392589.1	-	10	2357	c.1522_splice	c.e10+1	p.K507_splice	WASF1_ENST00000392588.1_Splice_Site_p.K507_splice|WASF1_ENST00000392586.1_Splice_Site_p.K507_splice|WASF1_ENST00000392587.2_Splice_Site_p.K507_splice|WASF1_ENST00000359451.2_Splice_Site_p.K507_splice	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	507	WH2.				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GAAAATTACCTTTTCGTATTG	0.383000													13	72					0	0	0.500413	0	0
DSP	1832	broad.mit.edu	37	6	7570791	7570791	+	Missense_Mutation	SNP	G	G	T	rs148147581	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:7570791G>T	ENST00000379802.3	+	13	2037	c.1696G>T	c.(1696-1698)Gcc>Tcc	p.A566S	DSP_ENST00000418664.2_Missense_Mutation_p.A566S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	566	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		CATGACAATCGCCAAGGTATG	0.557000													18	57					7.41877e-09	9.90706e-09	0.608945	1	0
OR5AS1	219447	broad.mit.edu	37	11	55798392	55798392	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55798392G>T	ENST00000313555.1	+	1	498	c.498G>T	c.(496-498)ctG>ctT	p.L166L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CATTCAGGCTGTCATTTTGTG	0.438000													16	161					2.35188e-11	3.39365e-11	0.539581	1	0
NLRP8	126205	broad.mit.edu	37	19	56467463	56467463	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:56467463C>A	ENST00000291971.3	+	3	2110	c.2039C>A	c.(2038-2040)tCt>tAt	p.S680Y	NLRP8_ENST00000590542.1_Missense_Mutation_p.S680Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	680						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CATCCTGGCTCTGAGTAAGTG	0.547000													36	32					1.59361e-14	2.47511e-14	0.827153	1	0
DCAF17	80067	broad.mit.edu	37	2	172309638	172309638	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:172309638G>C	ENST00000375255.3	+	6	869	c.542G>C	c.(541-543)gGc>gCc	p.G181A	DCAF17_ENST00000539783.1_Missense_Mutation_p.G181A|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	181						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTCTAGGCAGGCATTCAACAA	0.378000													4	63					0	0	0.217242	0	0
ALPK1	80216	broad.mit.edu	37	4	113351650	113351650	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:113351650G>A	ENST00000458497.1	+	11	1226	c.947G>A	c.(946-948)tGt>tAt	p.C316Y	ALPK1_ENST00000177648.9_Missense_Mutation_p.C316Y|ALPK1_ENST00000504176.2_Missense_Mutation_p.C238Y	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	316							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCAAATGACTGTCCTCCAGAA	0.403000													21	50					0	0	0.706142	0	0
ERBB4	2066	broad.mit.edu	37	2	212537983	212537983	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:212537983C>A	ENST00000342788.4	-	14	1933		c.e14-1		ERBB4_ENST00000402597.1_Splice_Site|ERBB4_ENST00000436443.1_Splice_Site	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4						cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCGAAATTCACTGTGAAAACA	0.458000										TSP Lung(8;0.080)			3	40					0.115264	0.117529	0.115264	1	0
ZNF304	57343	broad.mit.edu	37	19	57865133	57865133	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:57865133G>T	ENST00000391705.3	+	3	358	c.74G>T	c.(73-75)cGg>cTg	p.R25L	ZNF304_ENST00000282286.5_Missense_Mutation_p.R25L|ZNF304_ENST00000443917.2_Missense_Mutation_p.R25L|ZNF304_ENST00000598744.1_5'UTR	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TACTTCTCTCGGGAGGAGTGG	0.517000													44	49					1.48734e-19	2.50385e-19	0.864702	1	0
GRIK4	2900	broad.mit.edu	37	11	120827647	120827647	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:120827647G>T	ENST00000527524.2	+	16	2146	c.1859G>T	c.(1858-1860)tGt>tTt	p.C620F	GRIK4_ENST00000438375.2_Missense_Mutation_p.C620F			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	620					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TCCACCCGCTGTGTCAGTGGC	0.627000													5	14					1.024e-07	1.31945e-07	0.184627	1	0
NID1	4811	broad.mit.edu	37	1	236205319	236205319	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:236205319G>C	ENST00000264187.6	-	4	1108	c.1026C>G	c.(1024-1026)ccC>ccG	p.P342P	NID1_ENST00000366595.3_Silent_p.P342P	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	342					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GAGGTCCAAGGGGCCTTTCGG	0.582000													30	24					0	0	0.779181	0	0
GALNT13	114805	broad.mit.edu	37	2	155295238	155295238	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:155295238G>T	ENST00000392825.3	+	12	2097	c.1530_splice	c.e12+1	p.E510_splice	GALNT13_ENST00000409237.1_Splice_Site_p.E510_splice|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	510	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATGATGCTGAGGTATAGTATT	0.318000													8	64					6.40141e-05	7.28203e-05	0.387290	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125504840	125504840	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:125504840C>A	ENST00000431078.1	+	14	2473	c.2109C>A	c.(2107-2109)tcC>tcA	p.S703S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	703	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTGGGCGGTCCAATGAAAGGC	0.542000													19	23					3.99206e-14	6.15579e-14	0.557998	1	0
OR5B2	390190	broad.mit.edu	37	11	58190537	58190537	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:58190537C>A	ENST00000302581.2	-	1	249	c.198G>T	c.(196-198)ctG>ctT	p.L66L		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAAAGTCCACCAGAGACAGGT	0.507000													28	46					8.4185e-14	1.28628e-13	0.760397	1	0
ACSS3	79611	broad.mit.edu	37	12	81472085	81472085	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:81472085C>T	ENST00000548058.1	+	1	1096	c.186C>T	c.(184-186)taC>taT	p.Y62Y	ACSS3_ENST00000261206.3_Silent_p.Y62Y			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	62						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCAGCGAGTACAAGACCCACT	0.682000													9	21					0	0	0.361761	0	0
SULF2	55959	broad.mit.edu	37	20	46365579	46365579	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:46365579T>A	ENST00000359930.4	-	3	1134	c.283A>T	c.(283-285)Atc>Ttc	p.I95F	SULF2_ENST00000484875.1_Missense_Mutation_p.I95F|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000361612.4_Missense_Mutation_p.I95F|SULF2_ENST00000467815.1_Missense_Mutation_p.I95F	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	95					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCAGTGAGGATGGAGGAGCGT	0.607000													20	46					0	0	0.706142	0	0
OR13G1	441933	broad.mit.edu	37	1	247835510	247835510	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:247835510C>A	ENST00000359688.2	-	1	855	c.834G>T	c.(832-834)gtG>gtT	p.V278V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V278V(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATGTGGGAGTCACAAGAGTAT	0.438000													49	38					1.4374e-25	2.56314e-25	0.870114	1	0
CNGB3	54714	broad.mit.edu	37	8	87679267	87679267	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:87679267G>C	ENST00000320005.5	-	6	785	c.738C>G	c.(736-738)acC>acG	p.T246T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	246					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGTTGTCTGCGGTTTGATATG	0.438000													40	55					0	0	0.870114	0	0
NEO1	4756	broad.mit.edu	37	15	73545747	73545747	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:73545747G>A	ENST00000339362.5	+	13	2348	c.1901G>A	c.(1900-1902)aGt>aAt	p.S634N	NEO1_ENST00000560262.1_Missense_Mutation_p.S634N|NEO1_ENST00000558964.1_Missense_Mutation_p.S634N|NEO1_ENST00000261908.6_Missense_Mutation_p.S634N			Q92859	NEO1_HUMAN	neogenin 1	634	Fibronectin type-III 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTAGTTCCCAGTGCTGCTCCT	0.373000													8	22					0	0	0.335167	0	0
OR4C11	219429	broad.mit.edu	37	11	55371142	55371142	+	Silent	SNP	G	G	A	rs146621611	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55371142G>A	ENST00000302231.4	-	1	732	c.708C>T	c.(706-708)tcC>tcT	p.S236S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ACGTGCAAGCGGAGAGAGCCT	0.413000													5	25					0	0	0.217242	0	0
ABCA9	10350	broad.mit.edu	37	17	67023203	67023203	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:67023203C>G	ENST00000340001.4	-	15	2175	c.1964G>C	c.(1963-1965)cGa>cCa	p.R655P	ABCA9_ENST00000370732.2_Missense_Mutation_p.R655P|ABCA9_ENST00000453985.2_Missense_Mutation_p.R655P	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	655	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATTCCATATTCGGTGCCTTGA	0.433000													40	45					0	0	0.853193	0	0
C12orf4	57102	broad.mit.edu	37	12	4598990	4598990	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:4598990G>C	ENST00000261250.3	-	14	1729	c.1642C>G	c.(1642-1644)Ctg>Gtg	p.L548V	C12orf4_ENST00000545746.1_Missense_Mutation_p.L548V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	548										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TTGGATGTCAGAGTGAGTGTT	0.378000													47	65					0	0	0.870114	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647291	33647291	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:33647291G>T	ENST00000558425.1	-	2	308	c.309C>A	c.(307-309)aaC>aaA	p.N103K																								CTCTCAAGCTGTTCATTTGCA	0.512000													44	175					6.34439e-16	1.01686e-15	0.870114	1	0
LMTK3	114783	broad.mit.edu	37	19	49005745	49005745	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:49005745C>G	ENST00000600059.1	-	7	966	c.739G>C	c.(739-741)Ggc>Cgc	p.G247R	LMTK3_ENST00000270238.3_Missense_Mutation_p.G276R					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		ATCTCCAGGCCCATCCTCTGC	0.711000													7	60					0	0	0.307466	0	0
SFSWAP	6433	broad.mit.edu	37	12	132262653	132262653	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:132262653C>T	ENST00000261674.4	+	14	2327	c.2186C>T	c.(2185-2187)cCt>cTt	p.P729L	SFSWAP_ENST00000541286.1_Missense_Mutation_p.P729L	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	729					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GGAGGCAGGCCTCTGCCTACT	0.433000													5	29					0	0	0.217242	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102548771	102548771	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:102548771G>T	ENST00000334701.7	-	11	2413	c.2132C>A	c.(2131-2133)tCa>tAa	p.S711*	HSP90AA1_ENST00000216281.8_Nonsense_Mutation_p.S589*	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	589	Required for homodimerization.				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CAATCGGTTTGACACAACCAC	0.388000													8	7					0.00307968	0.00326403	0.278610	1	0
ADCY4	196883	broad.mit.edu	37	14	24798651	24798651	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:24798651G>C	ENST00000310677.4	-	10	1419	c.1306C>G	c.(1306-1308)Ctt>Gtt	p.L436V	ADCY4_ENST00000554068.2_Missense_Mutation_p.L436V|ADCY4_ENST00000396747.3_Missense_Mutation_p.L129V|ADCY4_ENST00000418030.2_Missense_Mutation_p.L436V	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	436					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AGCTCCCGAAGGTAGGGGTCC	0.632000													14	33					0	0	0.557998	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45885900	45885900	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:45885900G>C	ENST00000418234.2	-	12	2411	c.2333C>G	c.(2332-2334)tCc>tGc	p.S778C	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.S778C	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	778	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTCGCGGAAGGACAGCTCGTC	0.682000													22	54					0	0	0.624587	0	0
TTC30A	92104	broad.mit.edu	37	2	178483321	178483321	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:178483321C>G	ENST00000355689.4	-	1	373	c.109G>C	c.(109-111)Gaa>Caa	p.E37Q		NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	37					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CGCTGCAGTTCTCGGCCCAGC	0.687000													4	7					0	0	0.150653	0	0
MUC16	94025	broad.mit.edu	37	19	9076225	9076225	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:9076225C>G	ENST00000397910.4	-	3	11424	c.11221G>C	c.(11221-11223)Ggg>Cgg	p.G3741R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3742	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						AGAGATCTCCCAGTGTCCCAG	0.507000													24	44					0	0	0.706142	0	0
SPRR2D	6703	broad.mit.edu	37	1	153012776	153012776	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:153012776G>A	ENST00000368757.1	-	2	327	c.47C>T	c.(46-48)cCt>cTt	p.P16L	SPRR2D_ENST00000360379.3_Missense_Mutation_p.P16L|SPRR2D_ENST00000368758.3_Missense_Mutation_p.P16L|SPRR2D_ENST00000368756.1_Missense_Mutation_p.P16L			P22532	SPR2D_HUMAN	small proline-rich protein 2D	16					keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGGCACACAGGAGGTGGCTG	0.582000													69	51					0	0	0.870114	0	0
PDGFRA	5156	broad.mit.edu	37	4	55156608	55156608	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:55156608G>T	ENST00000257290.5	+	22	3340	c.3009G>T	c.(3007-3009)tgG>tgT	p.W1003C	FIP1L1_ENST00000507166.1_Missense_Mutation_p.W763C	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1003					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGAAGGACTGGGAGGGTGGTC	0.542000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			34	63					2.40579e-17	3.96574e-17	0.819951	1	0
AKAP1	8165	broad.mit.edu	37	17	55193519	55193519	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:55193519G>T	ENST00000337714.3	+	7	2562	c.2329G>T	c.(2329-2331)Gcc>Tcc	p.A777S	AKAP1_ENST00000571629.1_Missense_Mutation_p.A777S|AKAP1_ENST00000539273.1_Missense_Mutation_p.A777S|AKAP1_ENST00000572557.1_Missense_Mutation_p.A777S	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	777	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CTGGTGGCGAGCCCAAGTGGT	0.617000													14	47					1.37285e-15	2.18871e-15	0.500413	1	0
APOB	338	broad.mit.edu	37	2	21233628	21233628	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:21233628C>T	ENST00000233242.1	-	26	6239	c.6112G>A	c.(6112-6114)Gat>Aat	p.D2038N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2038					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTAAAGCATCAATGATATTG	0.408000													36	70					0	0	0.834066	0	0
NAALADL2	254827	broad.mit.edu	37	3	175184794	175184794	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:175184794A>G	ENST00000454872.1	+	8	1483	c.1355A>G	c.(1354-1356)cAt>cGt	p.H452R	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	452					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GGCAGCCATCATCACACTGCA	0.373000													54	146					0	0	0.870114	0	0
FAM115C	285966	broad.mit.edu	37	7	143417194	143417194	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:143417194C>A	ENST00000441159.2	+	3	1108	c.1042C>A	c.(1042-1044)Cag>Aag	p.Q348K	FAM115C_ENST00000409703.3_Missense_Mutation_p.Q184K|FAM115C_ENST00000444908.2_Missense_Mutation_p.Q348K|FAM115C_ENST00000411497.2_Missense_Mutation_p.Q67K|FAM115C_ENST00000411935.1_Missense_Mutation_p.Q184K|FAM115C_ENST00000425618.2_Missense_Mutation_p.Q67K|FAM115C_ENST00000357344.4_Missense_Mutation_p.Q348K			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	348										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						TAAGCAGCTGCAGGAGTTTGT	0.632000													20	82					1.55795e-14	2.42222e-14	0.608945	1	0
KCNK3	3777	broad.mit.edu	37	2	26915939	26915939	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:26915939G>T	ENST00000302909.3	+	1	321	c.196G>T	c.(196-198)Gtg>Ttg	p.V66L		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	66					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCGCGTCGTGCTGCGCCT	0.697000													12	16					3.07112e-06	3.70652e-06	0.387290	1	0
KCNJ4	3761	broad.mit.edu	37	22	38823370	38823370	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:38823370C>A	ENST00000303592.3	-	2	1026	c.768G>T	c.(766-768)gtG>gtT	p.V256V		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	256					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGATGGGCGACACCAGGAAGA	0.597000													22	36					2.24059e-21	3.85382e-21	0.706142	1	0
KRT38	8687	broad.mit.edu	37	17	39595035	39595035	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:39595035T>A	ENST00000246646.3	-	4	807	c.808A>T	c.(808-810)Aac>Tac	p.N270Y		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	270	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AGCACCCTGTTCAGGTCAATG	0.587000													38	206					0	0	0.853193	0	0
SPTB	6710	broad.mit.edu	37	14	65252654	65252654	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:65252654G>A	ENST00000389722.3	-	16	3630	c.3577C>T	c.(3577-3579)Cac>Tac	p.H1193Y	SPTB_ENST00000542895.1_Missense_Mutation_p.H1193Y|SPTB_ENST00000389720.3_Missense_Mutation_p.H1193Y|SPTB_ENST00000389721.5_Missense_Mutation_p.H1193Y|SPTB_ENST00000556626.1_Missense_Mutation_p.H1193Y	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1193					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGCTCCAAGTGAGCCAGAGTG	0.547000													31	65					0	0	0.750413	0	0
ASTL	431705	broad.mit.edu	37	2	96798449	96798449	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:96798449C>G	ENST00000342380.2	-	6	466	c.467G>C	c.(466-468)aGt>aCt	p.S156T		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	156					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GCGCCCCACACTCGAGAAGCA	0.622000													10	52					0	0	0.335167	0	0
MAP4K1	11184	broad.mit.edu	37	19	39104562	39104562	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:39104562G>T	ENST00000591517.1	-	8	519	c.491C>A	c.(490-492)gCt>gAt	p.A164D	MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Missense_Mutation_p.A164D|MAP4K1_ENST00000589130.1_Missense_Mutation_p.A160D|MAP4K1_ENST00000586296.1_Missense_Mutation_p.A164D	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	164	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCAGTGTAGCCCCAATCTG	0.627000													3	20					0.004672	0.00490332	0.115264	1	0
ZNF648	127665	broad.mit.edu	37	1	182026681	182026681	+	Silent	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:182026681T>G	ENST00000339948.3	-	2	672	c.465A>C	c.(463-465)gcA>gcC	p.A155A		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CGTCCTGGTTTGCCCCCGAGT	0.552000													19	28					0	0	0.575678	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21355454	21355454	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:21355454G>T	ENST00000256958.2	+	10	1261	c.1165G>T	c.(1165-1167)Gga>Tga	p.G389*		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	389					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTTGCAAGTGGAATGTTTTT	0.294000													6	24					0.0293803	0.0302032	0.248553	1	0
TBXAS1	6916	broad.mit.edu	37	7	139655362	139655362	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:139655362G>A	ENST00000263552.6	+	11	1185	c.647G>A	c.(646-648)cGt>cAt	p.R216H	TBXAS1_ENST00000411653.1_Missense_Mutation_p.R215H|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000425687.1_Missense_Mutation_p.R148H|TBXAS1_ENST00000448866.1_Missense_Mutation_p.R215H|TBXAS1_ENST00000336425.5_Missense_Mutation_p.R215H|TBXAS1_ENST00000436047.2_Missense_Mutation_p.R216H|TBXAS1_ENST00000414508.2_Missense_Mutation_p.R216H|TBXAS1_ENST00000416849.2_Missense_Mutation_p.R262H|TBXAS1_ENST00000458722.1_Missense_Mutation_p.R261H	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	215					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CACTGCAAGCGTTTCTTCGAA	0.577000													12	49					0	0	0.479597	0	0
OR52K2	119774	broad.mit.edu	37	11	4470617	4470617	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:4470617G>T	ENST00000325719.4	+	1	93	c.48G>T	c.(46-48)ttG>ttT	p.L16F		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTTCTTGTTGGTGGGGATTC	0.517000													16	36					4.96729e-08	6.46134e-08	0.575678	1	0
EFR3A	23167	broad.mit.edu	37	8	133014952	133014952	+	Splice_Site	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:133014952A>C	ENST00000254624.5	+	21	2534	c.2310_splice	c.e21+1	p.K770_splice	EFR3A_ENST00000334503.4_Splice_Site_p.K770_splice|EFR3A_ENST00000521940.1_3'UTR|EFR3A_ENST00000519656.1_Splice_Site_p.K734_splice	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	770						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TGTGAATCCAAAGTAAGTGAA	0.408000													25	22					0	0	0.740014	0	0
KCTD3	51133	broad.mit.edu	37	1	215793784	215793784	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:215793784G>T	ENST00000259154.4	+	18	2566	c.2272G>T	c.(2272-2274)Gga>Tga	p.G758*	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	758						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GAAGAAAGGAGGATTTGAAGG	0.413000													19	76					8.10497e-08	1.04614e-07	0.592651	1	0
TBPL2	387332	broad.mit.edu	37	14	55903622	55903622	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:55903622C>T	ENST00000247219.5	-	2	335	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	89					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CCAGATGTTTCTTTGACTTCA	0.428000													16	56					0	0	0.539581	0	0
TTN	7273	broad.mit.edu	37	2	179465646	179465646	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179465646A>C	ENST00000589042.1	-	288	56209	c.55985T>G	c.(55984-55986)gTc>gGc	p.V18662G	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V9722G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9597G|TTN_ENST00000342992.6_Missense_Mutation_p.V16094G|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V9789G|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V17021G|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17021	Fibronectin type-III 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGCATTGACAGCTTTGAC	0.478000													28	134					0	0	0.779181	0	0
PNLIP	5406	broad.mit.edu	37	10	118310739	118310739	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:118310739C>A	ENST00000369221.2	+	5	482	c.454C>A	c.(454-456)Ctt>Att	p.L152I	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	152					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGTTGAATTTCTTCAGGTAAT	0.403000													6	21					0.248553	0.251561	0.248553	1	0
SPEG	10290	broad.mit.edu	37	2	220329177	220329177	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:220329177C>A	ENST00000312358.7	+	9	2860	c.2728C>A	c.(2728-2730)Cgc>Agc	p.R910S	SPEG_ENST00000396686.1_Missense_Mutation_p.R61S|SPEG_ENST00000396698.1_Missense_Mutation_p.R806S|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396688.1_Missense_Mutation_p.R61S|SPEG_ENST00000396695.2_Missense_Mutation_p.R118S|SPEG_ENST00000396689.2_Missense_Mutation_p.R61S	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	910	Ig-like 3.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCAGCCCGTGCGCCCAGACCA	0.657000													19	55					3.08376e-08	4.05333e-08	0.654019	1	0
C9	735	broad.mit.edu	37	5	39342283	39342283	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:39342283T>A	ENST00000263408.4	-	2	188	c.93A>T	c.(91-93)ctA>ctT	p.L31L	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	31					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGCTTTCTGTTAGCTCTGGGT	0.408000													9	28					0	0	0.387290	0	0
PCDH15	65217	broad.mit.edu	37	10	55566680	55566680	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:55566680G>T	ENST00000373965.2	-	36	5108	c.4714C>A	c.(4714-4716)Cct>Act	p.P1572T	PCDH15_ENST00000414778.1_Missense_Mutation_p.P1569T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	423					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGTCGAACAGGGGAAGCAACT	0.458000										HNSCC(58;0.16)			28	52					5.77227e-19	9.66326e-19	0.729181	1	0
UNC79	57578	broad.mit.edu	37	14	93962774	93962774	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:93962774C>T	ENST00000553484.1	+	6	884	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	UNC79_ENST00000256339.4_Silent_p.L67L|UNC79_ENST00000555664.1_Silent_p.L244L|UNC79_ENST00000393151.2_Silent_p.L244L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	244						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTGTCAATTACTGGAATGCCT	0.274000													6	59					0	0	0.335167	0	0
FMN2	56776	broad.mit.edu	37	1	240255893	240255893	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:240255893G>T	ENST00000319653.9	+	1	714	c.484G>T	c.(484-486)Gat>Tat	p.D162Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	162					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.D305Y(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GATCGCCGAGGATGTGGAAAC	0.642000													22	14					1.37878e-21	2.38513e-21	0.654019	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43771274	43771274	+	Missense_Mutation	SNP	C	C	A	rs112430320		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:43771274C>A	ENST00000389420.3	-	32	4888	c.4889G>T	c.(4888-4890)cGg>cTg	p.R1630L		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1630	TSP type-1 14.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AACTATAGGCCGAAGTCGATG	0.413000													5	11					0.000602214	0.000658672	0.184627	1	0
AGMO	392636	broad.mit.edu	37	7	15599801	15599801	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:15599801C>T	ENST00000342526.3	-	2	391	c.222G>A	c.(220-222)acG>acA	p.T74T		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	74					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.T74T(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CTGAGATTGACGTTAAAGCAT	0.453000													15	61					0	0	0.500413	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190416	32190416	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:32190416C>A	ENST00000375023.3	-	3	461	c.323G>T	c.(322-324)gGc>gTc	p.G108V		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	108	EGF-like 2.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACCAGTGAAGCCAGGGAGGCA	0.622000													14	40					0.000132079	0.000149121	0.575678	1	0
KCNMA1	3778	broad.mit.edu	37	10	78868308	78868308	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:78868308G>T	ENST00000286627.5	-	9	2106	c.1154C>A	c.(1153-1155)cCt>cAt	p.P385H	KCNMA1_ENST00000404771.3_Missense_Mutation_p.P385H|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P385H|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P385H|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P385H|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P385H|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P385H|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P385H	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	385					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TATGATTTCAGGGACGTAGCT	0.488000													21	37					1.10513e-12	1.66323e-12	0.624587	1	0
MACF1	23499	broad.mit.edu	37	1	39781279	39781279	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:39781279G>T	ENST00000564288.1	+	27	4142	c.3365G>T	c.(3364-3366)aGt>aTt	p.S1122I	MACF1_ENST00000567887.1_Missense_Mutation_p.S1159I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.S1127I|MACF1_ENST00000539005.1_Missense_Mutation_p.S1127I|MACF1_ENST00000372915.3_Missense_Mutation_p.S1127I|MACF1_ENST00000317713.7_Missense_Mutation_p.S1127I|MACF1_ENST00000361689.2_Missense_Mutation_p.S1127I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1127	Poly-Ser.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTAGTTCAAGTGTCCCAACT	0.463000													28	35					3.1745e-13	4.82588e-13	0.729181	1	0
ATAD5	79915	broad.mit.edu	37	17	29171879	29171879	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:29171879C>G	ENST00000321990.4	+	6	2773	c.2395C>G	c.(2395-2397)Ctt>Gtt	p.L799V	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	799					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCCTTTATTTCTTGTCAGAAA	0.313000													21	62					0	0	0.706142	0	0
SLC17A5	26503	broad.mit.edu	37	6	74331599	74331599	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:74331599G>T	ENST00000355773.5	-	7	1174	c.906C>A	c.(904-906)aaC>aaA	p.N302K	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	302					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAAAGTCCAGTTGTAAGAAA	0.373000													9	33					6.40141e-05	7.28203e-05	0.387290	1	0
CD22	933	broad.mit.edu	37	19	35832310	35832310	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:35832310G>T	ENST00000085219.5	+	8	1638	c.1572G>T	c.(1570-1572)tcG>tcT	p.S524S	CD22_ENST00000544992.2_Silent_p.S524S|CD22_ENST00000341773.6_Silent_p.S347S|CD22_ENST00000594250.1_Silent_p.S347S|CD22_ENST00000536635.2_Silent_p.S436S|CD22_ENST00000419549.2_Silent_p.S352S|CD22_ENST00000270311.6_Silent_p.S404S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	524	Ig-like C2-type 5.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CTGGAAACTCGGTCAGCCTCC	0.552000													26	33					7.01153e-11	1.00022e-10	0.717897	1	0
MYH15	22989	broad.mit.edu	37	3	108174688	108174688	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:108174688T>A	ENST00000273353.3	-	21	2273	c.2217A>T	c.(2215-2217)ccA>ccT	p.P739P	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	739	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GAAAGGTCCTTGGATTCAGAA	0.358000													16	31					0	0	0.539581	0	0
KRT36	8689	broad.mit.edu	37	17	39646024	39646024	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:39646024G>A	ENST00000328119.6	-	1	92	c.93C>T	c.(91-93)atC>atT	p.I31I	KRT36_ENST00000393986.2_Intron	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	31	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CCACAGAACGGATGGAGGACA	0.637000													12	62					0	0	0.457914	0	0
CCDC54	84692	broad.mit.edu	37	3	107097331	107097331	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:107097331C>A	ENST00000261058.1	+	1	1144	c.897C>A	c.(895-897)ccC>ccA	p.P299P		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	299										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TCACTGGGCCCATTTTGAGCT	0.418000													13	30					2.23348e-06	2.72178e-06	0.500413	1	0
SPTA1	6708	broad.mit.edu	37	1	158609404	158609404	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:158609404G>A	ENST00000368148.3	-	35	5128	c.4948C>T	c.(4948-4950)Cag>Tag	p.Q1650*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.Q1650*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1650					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCAATAGCTGATGCTTCTTG	0.478000													56	58					0	0	0.870114	0	0
OLR1	4973	broad.mit.edu	37	12	10319353	10319353	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:10319353G>C	ENST00000309539.3	-	3	442	c.382C>G	c.(382-384)Ctg>Gtg	p.L128V	OLR1_ENST00000432556.2_Missense_Mutation_p.L128V|OLR1_ENST00000545927.1_Missense_Mutation_p.L128V|OLR1_ENST00000544577.1_Missense_Mutation_p.L128V|OLR1_ENST00000543993.1_Missense_Mutation_p.L24V	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	128	Neck.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						TGGAGATTCAGATTCTGGTGG	0.423000													30	62					0	0	0.760397	0	0
SOGA2	23255	broad.mit.edu	37	18	8798277	8798277	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:8798277G>T	ENST00000359865.3	+	10	2566	c.2424G>T	c.(2422-2424)caG>caT	p.Q808H	SOGA2_ENST00000517570.1_Missense_Mutation_p.Q767H|SOGA2_ENST00000400050.3_Missense_Mutation_p.Q767H|SOGA2_ENST00000306285.7_Missense_Mutation_p.Q123H|SOGA2_ENST00000518815.1_Missense_Mutation_p.Q123H|SOGA2_ENST00000306329.11_Missense_Mutation_p.Q1127H	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1118																	ACAGGGGACAGCCCCACAAAC	0.627000													7	26					0.00448238	0.00473402	0.307466	1	0
RPA2	6118	broad.mit.edu	37	1	28223634	28223634	+	Splice_Site	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:28223634T>A	ENST00000373912.3	-	6	708		c.e6-2		RPA2_ENST00000373909.3_Splice_Site|RPA2_ENST00000313433.7_Splice_Site	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa						cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTTTGTTCTATTAAAATGA	0.343000								Direct reversal of damage;Nucleotide excision repair (NER)					4	15					0	0	0.150653	0	0
UBR2	23304	broad.mit.edu	37	6	42541586	42541586	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:42541586G>T	ENST00000372899.1	+	2	451	c.193G>T	c.(193-195)Gca>Tca	p.A65S	UBR2_ENST00000372903.2_Missense_Mutation_p.A65S|UBR2_ENST00000372901.1_Missense_Mutation_p.A65S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	65					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGACATGCTGGCACAGCATGT	0.448000													21	38					3.51602e-12	5.2134e-12	0.575678	1	0
NXPE1	120400	broad.mit.edu	37	11	114401460	114401460	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:114401460G>T	ENST00000536312.1	-	6	1162	c.270C>A	c.(268-270)acC>acA	p.T90T	NXPE1_ENST00000251921.2_5'UTR|NXPE1_ENST00000424269.1_Silent_p.T90T					neurexophilin and PC-esterase domain family, member 1																		TGTTCACATGGGTGAAAGGTC	0.488000													53	101					7.50695e-29	1.35793e-28	0.870114	1	0
BPIFB1	92747	broad.mit.edu	37	20	31887734	31887734	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:31887734G>A	ENST00000253354.1	+	8	852	c.691G>A	c.(691-693)Gag>Aag	p.E231K	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	231						extracellular space	lipid binding										TGACCGTCTGGAGTTTGACCT	0.557000											OREG0025869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	72					0	0	0.769981	0	0
EPHB6	2051	broad.mit.edu	37	7	142561857	142561857	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:142561857C>A	ENST00000392957.2	+	7	1086	c.299C>A	c.(298-300)gCc>gAc	p.A100D	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.A100D	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	100						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CGGCGCGGGGCCCAGAGGGCG	0.647000													58	163					2.26907e-38	4.24217e-38	0.870114	1	0
PCDHA13	56136	broad.mit.edu	37	5	140262681	140262681	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:140262681T>A	ENST00000289272.2	+	1	828	c.828T>A	c.(826-828)gaT>gaA	p.D276E	PCDHA13_ENST00000409494.1_Missense_Mutation_p.D276E|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAATGGAGATATAGTTTACT	0.388000													17	36					0	0	0.539581	0	0
FAM135B	51059	broad.mit.edu	37	8	139380195	139380195	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:139380195G>T	ENST00000395297.1	-	2	202	c.32C>A	c.(31-33)tCg>tAg	p.S11*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	11								p.S11L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGCTCTACCGAAAACTCAAC	0.368000										HNSCC(54;0.14)			48	65					7.10663e-31	1.29485e-30	0.870114	1	0
COL6A6	131873	broad.mit.edu	37	3	130380837	130380837	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:130380837C>T	ENST00000358511.6	+	34	6218	c.6187C>T	c.(6187-6189)Cat>Tat	p.H2063Y	COL6A6_ENST00000453409.2_Missense_Mutation_p.H2063Y	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2063	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTTTATTGGTCATGCCTTACA	0.413000													4	26					0	0	0.150653	0	0
HSPG2	3339	broad.mit.edu	37	1	22172956	22172956	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:22172956G>A	ENST00000374695.3	-	63	8380	c.8301C>T	c.(8299-8301)ctC>ctT	p.L2767L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2767	Ig-like C2-type 13.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGTGACTGGGGAGGCTGCCCC	0.657000													15	71					0	0	0.520397	0	0
TEC	7006	broad.mit.edu	37	4	48147115	48147115	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:48147115C>A	ENST00000381501.3	-	14	1608	c.1451G>T	c.(1450-1452)aGc>aTc	p.S484I	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	484	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GTGGATGAAGCTGTTTCTCTC	0.458000													14	93					0.000422831	0.000466541	0.500413	1	0
GEMIN4	50628	broad.mit.edu	37	17	649543	649543	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:649543C>G	ENST00000576778.1	-	1	3048	c.1707G>C	c.(1705-1707)caG>caC	p.Q569H	GEMIN4_ENST00000319004.5_Missense_Mutation_p.Q580H			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	580					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CAGTGAGAATCTGGGCCAGGA	0.557000													25	23					0	0	0.729181	0	0
KRBA1	84626	broad.mit.edu	37	7	149427646	149427646	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:149427646G>T	ENST00000255992.10	+	16	2530	c.2131G>T	c.(2131-2133)Ggc>Tgc	p.G711C	KRBA1_ENST00000485033.2_Missense_Mutation_p.G651C|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.G651C	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	712	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTACTGCAGCGGCCTCGGTGC	0.662000													7	12					1.12685e-05	1.327e-05	0.307466	1	0
RYR3	6263	broad.mit.edu	37	15	33951980	33951980	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:33951980G>T	ENST00000389232.4	+	33	4438	c.4368G>T	c.(4366-4368)ttG>ttT	p.L1456F	RYR3_ENST00000415757.3_Missense_Mutation_p.L1456F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1456	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTACTTCTTTGTTTCAGTTTG	0.433000													7	27					1.12685e-05	1.327e-05	0.307466	1	0
FGFR2	2263	broad.mit.edu	37	10	123263308	123263308	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:123263308C>T	ENST00000358487.5	-	10	1707	c.1435G>A	c.(1435-1437)Gat>Aat	p.D479N	FGFR2_ENST00000360144.3_Missense_Mutation_p.D391N|FGFR2_ENST00000369061.4_Missense_Mutation_p.D367N|FGFR2_ENST00000351936.6_Missense_Mutation_p.D477N|FGFR2_ENST00000457416.2_Missense_Mutation_p.D480N|FGFR2_ENST00000369060.4_Missense_Mutation_p.D363N|FGFR2_ENST00000356226.4_Missense_Mutation_p.D362N|FGFR2_ENST00000369056.1_Missense_Mutation_p.D480N|FGFR2_ENST00000478859.1_Missense_Mutation_p.D251N|FGFR2_ENST00000357555.5_Missense_Mutation_p.D390N|FGFR2_ENST00000369059.1_Missense_Mutation_p.D365N|FGFR2_ENST00000346997.2_Missense_Mutation_p.D477N	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	479					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	ACTCACTTATCTCTTGGAAAC	0.473000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				10	27					0	0	0.361761	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													4	109					0	0	0.184627	0	0
KRT16P3	644945	broad.mit.edu	37	17	20407397	20407397	+	RNA	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:20407397A>G	ENST00000580113.1	-	0	252																											ACTGCCCACCAGAAGCCCATC	0.632000													48	45					0	0	0.870114	0	0
CAPZA2	830	broad.mit.edu	37	7	116552136	116552136	+	Nonstop_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:116552136A>T	ENST00000458284.2	+	7	572	c.519A>T	c.(517-519)tgA>tgT	p.*173C	CAPZA2_ENST00000361183.2_Missense_Mutation_p.E200V			P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	0					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CATTATTATGAAGATGGTAAT	0.313000													25	58					0	0	0.706142	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75898471	75898471	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:75898471G>A	ENST00000262207.4	+	2	717	c.249G>A	c.(247-249)atG>atA	p.M83I	CRISPLD1_ENST00000519798.1_Intron	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	83						extracellular region		p.M83I(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CCTCTAATATGGAGTATATGG	0.358000													20	130					0	0	0.667858	0	0
OR2M3	127062	broad.mit.edu	37	1	248366543	248366543	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:248366543C>A	ENST00000456743.1	+	1	212	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCCACACCCCCATGTACCTCC	0.547000													196	144					4.52064e-87	8.73371e-87	0.870114	1	0
GPC5	2262	broad.mit.edu	37	13	92345607	92345607	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:92345607C>A	ENST00000377067.3	+	3	864	c.492C>A	c.(490-492)aaC>aaA	p.N164K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	164						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AATTTGTAAACAGATTTTTTG	0.463000													23	109					7.07758e-08	9.17464e-08	0.681144	1	0
RWDD4	201965	broad.mit.edu	37	4	184567667	184567667	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:184567667C>A	ENST00000326397.5	-	6	777	c.505G>T	c.(505-507)Ggc>Tgc	p.G169C	RWDD4_ENST00000512740.1_Missense_Mutation_p.G106C|RWDD4_ENST00000327570.9_Missense_Mutation_p.G169C|RWDD4_ENST00000510968.1_Missense_Mutation_p.G74C	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	169										large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						CAGTTCCAGCCTCGAGGAAGT	0.274000													34	49					3.43241e-23	6.02775e-23	0.847076	1	0
NLRP11	204801	broad.mit.edu	37	19	56320389	56320389	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:56320389C>T	ENST00000443188.1	-	5	2297	c.1587G>A	c.(1585-1587)atG>atA	p.M529I	NLRP11_ENST00000592953.1_Missense_Mutation_p.M430I|NLRP11_ENST00000360133.3_Missense_Mutation_p.M529I|NLRP11_ENST00000589824.2_Missense_Mutation_p.M529I|NLRP11_ENST00000589093.1_Missense_Mutation_p.M529I	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	529							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCAAATGTTTCATGTATCCCA	0.438000													71	55					0	0	0.870114	0	0
KIF6	221458	broad.mit.edu	37	6	39682526	39682526	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:39682526C>A	ENST00000287152.7	-	3	287	c.193G>T	c.(193-195)Gat>Tat	p.D65Y	KIF6_ENST00000373215.3_Missense_Mutation_p.D65Y|KIF6_ENST00000538893.1_Missense_Mutation_p.D65Y|KIF6_ENST00000373216.3_Missense_Mutation_p.D65Y|KIF6_ENST00000465719.1_5'UTR	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	65	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCATCCTGATCAAAAATTCTT	0.358000													7	27					3.09899e-07	3.89638e-07	0.307466	1	0
NLRP6	171389	broad.mit.edu	37	11	281085	281085	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:281085G>C	ENST00000534750.1	+	4	1556	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	NLRP6_ENST00000312165.5_Missense_Mutation_p.E451Q	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	451	NACHT.					cytoplasm	ATP binding	p.E451K(1)		breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTGGCCCGCGAGGGCGTCCT	0.627000													14	28					0	0	0.457914	0	0
AAK1	22848	broad.mit.edu	37	2	69734643	69734643	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:69734643C>G	ENST00000409085.4	-	15	2450	c.2074G>C	c.(2074-2076)Ggg>Cgg	p.G692R	AAK1_ENST00000406297.3_Missense_Mutation_p.G692R|AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	692						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CACGTAGACCCTTCTGAAGGA	0.478000													8	9					0	0	0.307466	0	0
ZNF365	22891	broad.mit.edu	37	10	64382909	64382909	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:64382909A>T	ENST00000410046.3	+	5	1308	c.1028A>T	c.(1027-1029)cAt>cTt	p.H343L	ZNF365_ENST00000395251.1_Intron	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AAAGATTCTCATTGTCTAGTT	0.398000													21	46					0	0	0.639603	0	0
NLRP5	126206	broad.mit.edu	37	19	56538657	56538657	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:56538657G>T	ENST00000390649.3	+	7	1058	c.1058G>T	c.(1057-1059)cGa>cTa	p.R353L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	353	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ATCATGTCCCGACCAGAAAGG	0.547000													6	12					5.9392e-07	7.375e-07	0.217242	1	0
TTN	7273	broad.mit.edu	37	2	179615829	179615829	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179615829A>T	ENST00000360870.5	-	46	11520	c.11298T>A	c.(11296-11298)gcT>gcA	p.A3766A	TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9605							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATACTCTCAGCTGAATGAT	0.358000													40	50					0	0	0.819951	0	0
APOC1	341	broad.mit.edu	37	19	45419582	45419582	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:45419582G>T	ENST00000592885.1	+	3	245	c.194G>T	c.(193-195)cGg>cTg	p.R65L	APOC1_ENST00000588750.1_Splice_Site_p.R65_splice|APOC1_ENST00000252491.4_Splice_Site_p.R65_splice|APOC1_ENST00000586638.1_Missense_Mutation_p.R65L|APOC1_ENST00000589781.1_Intron|APOC1_ENST00000588802.1_Splice_Site_p.R65_splice			P02654	APOC1_HUMAN	apolipoprotein C-I	65					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GCCAAGATGCGGTTAGAACCC	0.507000													21	70					4.35082e-09	5.87263e-09	0.592651	1	0
ATG16L1	55054	broad.mit.edu	37	2	234191392	234191392	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:234191392G>C	ENST00000392017.4	+	12	1453	c.1196G>C	c.(1195-1197)cGa>cCa	p.R399P	ATG16L1_ENST00000392020.4_Missense_Mutation_p.R380P|ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000347464.5_Missense_Mutation_p.R236P|ATG16L1_ENST00000373525.5_Missense_Mutation_p.R220P|ATG16L1_ENST00000392018.1_Missense_Mutation_p.R416P	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	399					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GATGATTATCGATTACGGGTA	0.413000													39	30					0	0	0.859065	0	0
MYH13	8735	broad.mit.edu	37	17	10233706	10233706	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:10233706C>A	ENST00000418404.3	-	20	2596	c.2433G>T	c.(2431-2433)agG>agT	p.R811S	MYH13_ENST00000570743.1_Missense_Mutation_p.R811S|MYH13_ENST00000252172.4_Missense_Mutation_p.R811S|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	811	IQ.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGTGTCACCTCCTCTCCATCA	0.537000													24	12					7.63505e-26	1.3647e-25	0.760397	1	0
GJD2	57369	broad.mit.edu	37	15	35044701	35044701	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:35044701G>T	ENST00000290374.4	-	2	1420	c.944C>A	c.(943-945)tCc>tAc	p.S315Y		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	315					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AGAGTCACTGGACTGAGTCCT	0.547000													4	19					0.150653	0.153198	0.150653	1	0
PRDM1	639	broad.mit.edu	37	6	106553510	106553510	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:106553510C>G	ENST00000369096.4	+	5	1709	c.1475C>G	c.(1474-1476)cCc>cGc	p.P492R	PRDM1_ENST00000369091.2_Missense_Mutation_p.P456R|PRDM1_ENST00000369089.3_Missense_Mutation_p.P358R	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	492					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GTCCCGGCGCCCCACAGTGCC	0.682000			"""D, N, Mis, F, S"""		DLBCL								16	34					0	0	0.500413	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147259301	147259301	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:147259301G>C	ENST00000361727.3	+	12	2365	c.1849G>C	c.(1849-1851)Gat>Cat	p.D617H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	617	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATAGATCCTGATGGCAGCGG	0.403000										HNSCC(39;0.1)			17	47					0	0	0.575678	0	0
ADORA1	134	broad.mit.edu	37	1	203134490	203134490	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:203134490A>G	ENST00000367236.4	+	3	1364	c.443A>G	c.(442-444)aAt>aGt	p.N148S	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.N148S|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.N148S	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	148					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GGCTGGAACAATCTGAGTGCG	0.622000													13	34					0	0	0.520397	0	0
NLGN1	22871	broad.mit.edu	37	3	173996667	173996667	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:173996667A>T	ENST00000457714.1	+	6	1305	c.876A>T	c.(874-876)gcA>gcT	p.A292A	NLGN1_ENST00000401917.3_Silent_p.A332A|NLGN1_ENST00000361589.4_Silent_p.A292A|NLGN1_ENST00000545397.1_Silent_p.A292A|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	309					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTCAACGAGCAATAGCTCAAA	0.368000													13	20					0	0	0.457914	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963101	88963101	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:88963101G>C	ENST00000333190.4	+	4	1414	c.805G>C	c.(805-807)Gca>Cca	p.A269P		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	269						intracellular	zinc ion binding	p.A269S(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTGCAGGTTTGCAAATAAAGA	0.358000										HNSCC(36;0.09)			16	17					0	0	0.520397	0	0
ANK1	286	broad.mit.edu	37	8	41530083	41530083	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:41530083C>A	ENST00000396942.1	-	38	4968	c.4885G>T	c.(4885-4887)Gat>Tat	p.D1629Y	ANK1_ENST00000265709.8_Missense_Mutation_p.D1670Y|ANK1_ENST00000352337.4_Missense_Mutation_p.D1629Y|ANK1_ENST00000396945.1_Missense_Mutation_p.D1629Y|ANK1_ENST00000347528.4_Missense_Mutation_p.D1629Y|ANK1_ENST00000379758.2_Missense_Mutation_p.D1629Y|ANK1_ENST00000289734.7_Missense_Mutation_p.D1629Y			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1629	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTTGTGGCATCTGAATCCACT	0.567000													49	129					1.00776e-21	1.74531e-21	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179588354	179588354	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179588354C>A	ENST00000589042.1	-	74	21697	c.21473G>T	c.(21472-21474)aGc>aTc	p.S7158I	TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5914I|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S6841I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6841	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTAATAACGCTTGTGAAGGT	0.418000													6	19					0.00116845	0.00126512	0.217242	1	0
GBA3	57733	broad.mit.edu	37	4	22749107	22749107	+	RNA	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:22749107C>A	ENST00000508166.1	+	0	577				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCGTGTCAAGCAGTGGATCAC	0.428000													6	44					3.59834e-05	4.13712e-05	0.217242	1	0
ABL2	27	broad.mit.edu	37	1	179084056	179084056	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:179084056C>A	ENST00000502732.1	-	9	1721	c.1518G>T	c.(1516-1518)caG>caT	p.Q506H	ABL2_ENST00000512653.1_Missense_Mutation_p.Q491H|ABL2_ENST00000408940.3_Missense_Mutation_p.Q470H|ABL2_ENST00000367623.4_Missense_Mutation_p.Q485H|ABL2_ENST00000507173.1_Missense_Mutation_p.Q485H|ABL2_ENST00000504405.1_Missense_Mutation_p.Q470H|ABL2_ENST00000344730.3_Missense_Mutation_p.Q491H|ABL2_ENST00000392043.3_Missense_Mutation_p.Q485H|ABL2_ENST00000511413.1_Missense_Mutation_p.Q506H	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	506	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	ATCCCTCAGGCTGTTCCATTC	0.398000			T	ETV6	AML								52	32					4.17463e-26	7.47954e-26	0.870114	1	0
LINC00264	645528	broad.mit.edu	37	10	26880246	26880246	+	RNA	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:26880246A>G	ENST00000412114.1	+	0	481					NR_026793.1																						CAGGACCTATAAAAGGCATCA	0.423000													4	29					0	0	0.184627	0	0
POU6F2	11281	broad.mit.edu	37	7	39379522	39379522	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:39379522C>A	ENST00000518318.2	+	5	835	c.793C>A	c.(793-795)Cca>Aca	p.P265T	POU6F2_ENST00000403058.1_Missense_Mutation_p.P265T|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.P257T			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	265	Gln-rich.|Pro-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						ccaaccatctccaacccagca	0.617000													17	40					1.99824e-07	2.52931e-07	0.520397	1	0
ACIN1	22985	broad.mit.edu	37	14	23547448	23547448	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:23547448C>T	ENST00000262710.1	-	8	2536	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	ACIN1_ENST00000457657.1_Missense_Mutation_p.E697K|ACIN1_ENST00000605057.1_Missense_Mutation_p.E679K|ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000555053.1_Missense_Mutation_p.E737K	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	737					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGCTCTGCCTCTTCAGCTTCA	0.473000													38	84					0	0	0.827153	0	0
EPPK1	83481	broad.mit.edu	37	8	144941191	144941191	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:144941191G>C	ENST00000525985.1	-	2	6302	c.6231C>G	c.(6229-6231)gaC>gaG	p.D2077E				P58107	EPIPL_HUMAN	epiplakin 1	2077						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)			GCCAGCCCGTGTCCTCTTGTG	0.587000													6	59					0	0	0.248553	0	0
CLRN2	645104	broad.mit.edu	37	4	17524644	17524644	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:17524644C>A	ENST00000511148.2	+	2	513	c.411C>A	c.(409-411)atC>atA	p.I137I		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	137						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CTGGGGGCATCTGCCTATGGA	0.557000													9	19					5.50884e-06	6.55918e-06	0.411799	1	0
OLFML2B	25903	broad.mit.edu	37	1	161967956	161967956	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:161967956G>C	ENST00000294794.3	-	6	1556	c.1133C>G	c.(1132-1134)cCc>cGc	p.P378R	OLFML2B_ENST00000367940.2_Missense_Mutation_p.P379R	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	378										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGAGGTCGAGGGCTGTGGCAG	0.627000													51	124					0	0	0.870114	0	0
EXOSC10	5394	broad.mit.edu	37	1	11141175	11141175	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:11141175C>G	ENST00000544779.1	-	11	1406	c.1401G>C	c.(1399-1401)caG>caC	p.Q467H	EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000304457.7_Missense_Mutation_p.Q467H|EXOSC10_ENST00000376936.4_Missense_Mutation_p.Q467H			Q01780	EXOSX_HUMAN	exosome component 10	467					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GCCACACCACCTGCAGCTGCA	0.587000													3	27					0	0	0.150653	0	0
IL16	3603	broad.mit.edu	37	15	81592569	81592569	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:81592569C>T	ENST00000394660.2	+	14	3262	c.2902C>T	c.(2902-2904)Ccc>Tcc	p.P968S	IL16_ENST00000302987.4_Missense_Mutation_p.P968S|IL16_ENST00000394652.2_Missense_Mutation_p.P267S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	968					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACGGAGCTTCCCCCTGACCAG	0.572000													5	22					0	0	0.184627	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833560	43833560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr21:43833560G>T	ENST00000319294.6	+	5	626	c.595G>T	c.(595-597)Gga>Tga	p.G199*	UBASH3A_ENST00000398367.1_Intron|UBASH3A_ENST00000291535.6_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	199						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CCAGGTGCCTGGACATGGCCC	0.552000													13	15					3.41278e-10	4.76902e-10	0.520397	1	0
TRIB2	28951	broad.mit.edu	37	2	12880753	12880753	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:12880753C>G	ENST00000155926.4	+	3	2284	c.865C>G	c.(865-867)Ctg>Gtg	p.L289V	TRIB2_ENST00000381465.2_Missense_Mutation_p.L153V	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	289	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCGAAGCATTCTGCGTCGGGA	0.532000													20	22					0	0	0.654019	0	0
TBR1	10716	broad.mit.edu	37	2	162279953	162279953	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:162279953G>T	ENST00000389554.3	+	6	1581	c.1264G>T	c.(1264-1266)Ggg>Tgg	p.G422W	TBR1_ENST00000489530.1_3'UTR|AC009487.4_ENST00000437683.1_RNA|TBR1_ENST00000410035.1_Missense_Mutation_p.G135W	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	422						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GATCGTGCCCGGGGCCCGCTA	0.711000													40	23					4.14194e-30	7.52852e-30	0.859065	1	0
NRG1	3084	broad.mit.edu	37	8	32617782	32617782	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:32617782G>A	ENST00000338921.4	+	12	1667	c.1150G>A	c.(1150-1152)Gta>Ata	p.V384I	NRG1_ENST00000539990.1_Missense_Mutation_p.V219I|NRG1_ENST00000287842.3_Missense_Mutation_p.V373I|NRG1_ENST00000287840.5_Missense_Mutation_p.V376I|NRG1_ENST00000523079.1_Missense_Mutation_p.V373I|NRG1_ENST00000356819.4_Missense_Mutation_p.V381I|NRG1_ENST00000287845.5_Missense_Mutation_p.V347I|NRG1_ENST00000405005.2_Missense_Mutation_p.V376I|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.V326I|NRG1_ENST00000521670.1_Missense_Mutation_p.V376I			Q02297	NRG1_HUMAN	neuregulin 1	376					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.V381I(1)|p.V376I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GATGTCATCCGTAGAAAACAG	0.527000													35	98					0	0	0.853193	0	0
C9orf156	51531	broad.mit.edu	37	9	100667197	100667197	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:100667197C>T	ENST00000375119.3	-	5	1220	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	382					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				GACCGAGGATCCGCTGACAGC	0.483000													12	26					0	0	0.411799	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140802988	140802988	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:140802988G>C	ENST00000398587.2	+	1	2227	c.2194G>C	c.(2194-2196)Ggg>Cgg	p.G732R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGAAGGCGGGTTGGCAGG	0.587000													8	21					0	0	0.307466	0	0
UBR2	23304	broad.mit.edu	37	6	42541585	42541585	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:42541585G>T	ENST00000372899.1	+	2	450	c.192G>T	c.(190-192)ctG>ctT	p.L64L	UBR2_ENST00000372903.2_Silent_p.L64L|UBR2_ENST00000372901.1_Silent_p.L64L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	64					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAGACATGCTGGCACAGCATG	0.453000													20	39					5.03518e-11	7.2171e-11	0.557998	1	0
MGAT5B	146664	broad.mit.edu	37	17	74901414	74901414	+	Splice_Site	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:74901414A>T	ENST00000569840.2	+	7	1428	c.855_splice	c.e7+1	p.Q285_splice	MGAT5B_ENST00000428789.2_Splice_Site_p.Q296_splice|MGAT5B_ENST00000301618.4_Splice_Site_p.Q285_splice|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	285						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCAGAAGCAGGTGCGTGGC	0.622000													5	12					0	0	0.184627	0	0
IGF2R	3482	broad.mit.edu	37	6	160430102	160430102	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:160430102G>C	ENST00000356956.1	+	3	498	c.350G>C	c.(349-351)tGt>tCt	p.C117S		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	117					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ACAGTGAGCTGTGACCAGCAA	0.448000													31	42					0	0	0.760397	0	0
SLC5A10	125206	broad.mit.edu	37	17	18922753	18922753	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:18922753T>A	ENST00000317977.6	+	12	1740	c.1169T>A	c.(1168-1170)cTc>cAc	p.L390H	SLC5A10_ENST00000395647.2_Missense_Mutation_p.L436H|SLC5A10_ENST00000395642.1_Missense_Mutation_p.L390H|SLC5A10_ENST00000417251.2_Missense_Mutation_p.L384H|SLC5A10_ENST00000395645.3_Missense_Mutation_p.L420H|SLC5A10_ENST00000395643.2_Missense_Mutation_p.L393H			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	420					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ATAGTGGCACTCATCGGCGTG	0.622000													7	35					0	0	0.307466	0	0
ABCB1	5243	broad.mit.edu	37	7	87160718	87160718	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:87160718C>T	ENST00000265724.3	-	22	2994	c.2577G>A	c.(2575-2577)ctG>ctA	p.L859L	ABCB1_ENST00000543898.1_Silent_p.L795L|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	859	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTAAGAGTAACAGTGTTAGTT	0.383000													23	73					0	0	0.624587	0	0
FRYL	285527	broad.mit.edu	37	4	48503687	48503687	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:48503687A>G	ENST00000537810.1	-	62	9149	c.8545T>C	c.(8545-8547)Tac>Cac	p.Y2849H	FRYL_ENST00000264319.7_Missense_Mutation_p.Y239H|FRYL_ENST00000503238.1_Missense_Mutation_p.Y2849H|FRYL_ENST00000507873.2_Missense_Mutation_p.Y239H|FRYL_ENST00000358350.4_Missense_Mutation_p.Y2849H			O94915	FRYL_HUMAN	FRY-like	2849					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGTTTACAGTAGGCCTGGAAC	0.299000													24	122					0	0	0.750413	0	0
ASTN1	460	broad.mit.edu	37	1	176934321	176934321	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:176934321G>T	ENST00000367654.2	-	9	1613	c.1600C>A	c.(1600-1602)Cag>Aag	p.Q534K	ASTN1_ENST00000367657.3_Missense_Mutation_p.Q526K|ASTN1_ENST00000361833.2_Missense_Mutation_p.Q526K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.Q526K			O14525	ASTN1_HUMAN	astrotactin 1	534					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCAGAGGGCTGCTCTCCCAAA	0.418000													37	32					2.51966e-14	3.90534e-14	0.870114	1	0
ZNF365	22891	broad.mit.edu	37	10	64382906	64382906	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:64382906C>A	ENST00000410046.3	+	5	1305	c.1025C>A	c.(1024-1026)tCt>tAt	p.S342Y	ZNF365_ENST00000395251.1_Intron	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TTGAAAGATTCTCATTGTCTA	0.393000													21	43					3.01185e-09	4.07996e-09	0.667858	1	0
LRGUK	136332	broad.mit.edu	37	7	133868525	133868525	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:133868525A>T	ENST00000285928.2	+	11	1323	c.1254A>T	c.(1252-1254)atA>atT	p.I418I		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	418	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CCATGCTGATACTAGCTGGTC	0.488000													45	113					0	0	0.870114	0	0
SOGA1	140710	broad.mit.edu	37	20	35434280	35434280	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:35434280C>A	ENST00000237536.4	-	9	3236	c.2895G>T	c.(2893-2895)acG>acT	p.T965T	SOGA1_ENST00000279034.5_Silent_p.T727T|SOGA1_ENST00000357779.3_Silent_p.T727T|SOGA1_ENST00000456801.2_Silent_p.T568T	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	727										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						AGCTGTCCCCCGTGCAGGCCT	0.493000													6	19					0.000157383	0.000176895	0.278610	1	0
SSH2	85464	broad.mit.edu	37	17	27958224	27958224	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:27958224C>A	ENST00000269033.3	-	15	4058	c.3907G>T	c.(3907-3909)Gag>Tag	p.E1303*	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Nonsense_Mutation_p.E1330*	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1303					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTTGGTCCTCCATCGCGTGC	0.522000													15	55					6.49762e-13	9.79851e-13	0.539581	1	0
KCNB1	3745	broad.mit.edu	37	20	47990535	47990535	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:47990535G>T	ENST00000371741.4	-	2	1728	c.1562C>A	c.(1561-1563)cCt>cAt	p.P521H		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	521					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGGTGCTGAGGACTAGAAGA	0.483000													55	168					3.13296e-38	5.85001e-38	0.870114	1	0
MMP26	56547	broad.mit.edu	37	11	5012612	5012612	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:5012612G>T	ENST00000380390.1	+	5	697	c.481G>T	c.(481-483)Ggt>Tgt	p.G161C	MMP26_ENST00000300762.1_Missense_Mutation_p.G161C			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	161					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCATGAAGATGGTTGGCCCTT	0.458000													86	162					7.62712e-44	1.43845e-43	0.870114	1	0
IMPAD1	54928	broad.mit.edu	37	8	57878817	57878817	+	Silent	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:57878817C>G	ENST00000262644.4	-	4	999	c.741G>C	c.(739-741)ggG>ggC	p.G247G		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	247						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTTTGACCATCCCTGAATGGG	0.493000													21	70					0	0	0.624587	0	0
SNTG1	54212	broad.mit.edu	37	8	51705359	51705359	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:51705359T>A	ENST00000522124.1	+	19	2185	c.1524T>A	c.(1522-1524)gcT>gcA	p.A508A	SNTG1_ENST00000518864.1_Silent_p.A508A|SNTG1_ENST00000517473.1_Silent_p.A471A|SNTG1_ENST00000276467.5_Silent_p.A471A	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	508					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CCAGCTCTGCTACCACGAGCA	0.428000													66	69					0	0	0.870114	0	0
CCDC87	55231	broad.mit.edu	37	11	66358319	66358319	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:66358319C>A	ENST00000333861.3	-	1	2235	c.2168G>T	c.(2167-2169)cGg>cTg	p.R723L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	723								p.R723Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTTCAGGGCCCGCTCCCAGGC	0.552000													12	86					4.3838e-07	5.4752e-07	0.435327	1	0
DST	667	broad.mit.edu	37	6	56510775	56510775	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:56510775C>A	ENST00000370754.5	-	14	1567	c.1568G>T	c.(1567-1569)gGa>gTa	p.G523V	DST_ENST00000312431.6_Missense_Mutation_p.G345V|DST_ENST00000421834.2_Missense_Mutation_p.G345V|DST_ENST00000361203.3_Missense_Mutation_p.G345V|DST_ENST00000370769.4_Missense_Mutation_p.G345V|DST_ENST00000370788.2_Missense_Mutation_p.G345V			Q03001	DYST_HUMAN	dystonin	345					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTGATGCGTCCAAATTCTAT	0.358000													3	8					0.004672	0.00490332	0.115264	1	0
NUDCD1	84955	broad.mit.edu	37	8	110308681	110308681	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:110308681C>T	ENST00000239690.4	-	3	765	c.391G>A	c.(391-393)Gat>Aat	p.D131N	NUDCD1_ENST00000427660.2_Missense_Mutation_p.D102N	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	131										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CCAGTTCCATCTGACAAGGTA	0.443000													49	180					0	0	0.870114	0	0
RELN	5649	broad.mit.edu	37	7	103131117	103131117	+	Silent	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:103131117A>G	ENST00000428762.1	-	59	9762	c.9603T>C	c.(9601-9603)tcT>tcC	p.S3201S	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.S3201S|RELN_ENST00000424685.2_Silent_p.S3201S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3201					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAACCTACCTAGAGGAGACAT	0.468000													35	71					0	0	0.840704	0	0
KCNH3	23416	broad.mit.edu	37	12	49951519	49951519	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:49951519C>T	ENST00000257981.6	+	15	3295	c.3035C>T	c.(3034-3036)cCc>cTc	p.P1012L		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	1012	Pro-rich.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGCTCTGAGCCCAGCACCCCT	0.672000													6	23					0	0	0.217242	0	0
FOXO1	2308	broad.mit.edu	37	13	41134033	41134033	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:41134033G>T	ENST00000379561.5	-	2	1979	c.1595C>A	c.(1594-1596)tCt>tAt	p.S532Y		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	532					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GTTAACTGCAGATGTCTGCTG	0.557000													35	89					2.05212e-20	3.48189e-20	0.812448	1	0
GABRA4	2557	broad.mit.edu	37	4	46930629	46930629	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:46930629C>A	ENST00000264318.3	-	9	2260	c.1278G>T	c.(1276-1278)cgG>cgT	p.R426R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	426					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTAAGTAAGACCGAGGTGTGC	0.458000													10	45					2.23348e-06	2.72178e-06	0.500413	1	0
POU4F2	5458	broad.mit.edu	37	4	147561521	147561521	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:147561521G>T	ENST00000281321.3	+	2	1039	c.791G>T	c.(790-792)cGc>cTc	p.R264L		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	264	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TTCGCCGAGCGCTTCAAGCAG	0.697000													5	21					1.23904e-05	1.44667e-05	0.184627	1	0
UNC5CL	222643	broad.mit.edu	37	6	41001699	41001699	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:41001699C>T	ENST00000244565.3	-	3	695	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	UNC5CL_ENST00000373164.1_Missense_Mutation_p.A203T	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	203	Interaction with RELA and NFKB1.|ZU5.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CATACCTTGGCATCCAGCAGG	0.637000													9	19					0	0	0.307466	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228219	140228219	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:140228219C>T	ENST00000378122.3	+	1	863	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	PCDHA9_ENST00000532602.1_Missense_Mutation_p.R47C|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_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)			CTTCGTGGGCCGCATCGCGCA	0.647000													22	45					0	0	0.681144	0	0
TMEM168	64418	broad.mit.edu	37	7	112423920	112423920	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:112423920T>A	ENST00000312814.5	-	2	1521	c.961A>T	c.(961-963)Acc>Tcc	p.T321S	TMEM168_ENST00000454074.1_Missense_Mutation_p.T321S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	321						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TTTAATTTGGTATGGAATCCC	0.348000													33	81					0	0	0.788014	0	0
IGDCC4	57722	broad.mit.edu	37	15	65676739	65676739	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:65676739A>G	ENST00000352385.2	-	20	3570	c.3361T>C	c.(3361-3363)Tca>Cca	p.S1121P	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1121						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GCTGGGGGTGACTTCTTCCTC	0.512000													18	68					0	0	0.654019	0	0
LAMA2	3908	broad.mit.edu	37	6	129573242	129573242	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:129573242G>T	ENST00000421865.2	+	14	1947	c.1898G>T	c.(1897-1899)aGc>aTc	p.S633I		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	633	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATGACTTGAGCATCAGCACA	0.358000													5	24					3.59834e-05	4.13712e-05	0.217242	1	0
RP1L1	94137	broad.mit.edu	37	8	10469309	10469309	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:10469309C>A	ENST00000382483.3	-	4	2522	c.2299G>T	c.(2299-2301)Ggg>Tgg	p.G767W		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	767					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTCCTGGACCCCGCGTCCCCT	0.662000													24	48					7.92952e-12	1.16542e-11	0.667858	1	0
MGAT3	4248	broad.mit.edu	37	22	39883551	39883551	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:39883551C>T	ENST00000341184.6	+	2	414	c.199C>T	c.(199-201)Cct>Tct	p.P67S		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	67	Pro-rich.				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCCAGGAGGCCCTGACCTGCT	0.682000													31	58					0	0	0.750413	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118404544	118404544	+	RNA	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:118404544G>T	ENST00000537242.1	+	0	1369				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TTCCTCCACAGGTATAATTTT	0.438000													5	11					0.000602214	0.000658672	0.184627	1	0
TMEM132E	124842	broad.mit.edu	37	17	32964652	32964652	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:32964652G>T	ENST00000321639.5	+	10	2684	c.2356G>T	c.(2356-2358)Ggc>Tgc	p.G786C		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	786						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCTGCCCACCGGCTTCCTGCA	0.692000													6	39					0.0215528	0.0222019	0.217242	1	0
LDB1	8861	broad.mit.edu	37	10	103869187	103869187	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:103869187G>C	ENST00000361198.5	-	9	1325	c.702C>G	c.(700-702)ctC>ctG	p.L234L	LDB1_ENST00000425280.1_Silent_p.L270L	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	270					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GGCAGGTCTTGAGGCAGTCGC	0.592000													9	36					0	0	0.361761	0	0
CCNB3	85417	broad.mit.edu	37	X	50094343	50094343	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:50094343A>T	ENST00000376042.1	+	12	4362	c.4064A>T	c.(4063-4065)aAg>aTg	p.K1355M	CCNB3_ENST00000376038.1_Missense_Mutation_p.K251M|CCNB3_ENST00000276014.7_Missense_Mutation_p.K1355M|CCNB3_ENST00000348603.2_Missense_Mutation_p.K251M			Q8WWL7	CCNB3_HUMAN	cyclin B3	1355					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GATAGTCTCAAGGCTGTGTAT	0.458000													58	48					0	0	0.870114	0	0
RNF17	56163	broad.mit.edu	37	13	25419098	25419098	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:25419098G>T	ENST00000255324.5	+	22	3034		c.e22-1		RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000339524.3_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TATTTTCTTAGGTCTTGCTGT	0.318000													9	32					0.00136819	0.0014782	0.411799	1	0
ZC3H12B	340554	broad.mit.edu	37	X	64709138	64709138	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:64709138G>A	ENST00000338957.4	+	1	524	c.457G>A	c.(457-459)Gat>Aat	p.D153N	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.D142N	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	142							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAACAAAGGTGATTCAGAAGG	0.448000													23	18					0	0	0.681144	0	0
PGK2	5232	broad.mit.edu	37	6	49754589	49754589	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:49754589C>A	ENST00000304801.3	-	1	464	c.312G>T	c.(310-312)gtG>gtT	p.V104V		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	104					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGGCTTTCTCCACTTCTGCGC	0.527000													20	53					1.28384e-07	1.63467e-07	0.608945	1	0
ADCYAP1	116	broad.mit.edu	37	18	905486	905486	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:905486C>T	ENST00000579794.1	+	1	377	c.99C>T	c.(97-99)ttC>ttT	p.F33F	ADCYAP1_ENST00000450565.3_Silent_p.F33F|RP11-672L10.2_ENST00000581719.1_RNA|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	33					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GACTCCGGTTCCCCGGGATCA	0.632000													13	38					0	0	0.411799	0	0
NTF3	4908	broad.mit.edu	37	12	5604066	5604066	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:5604066C>T	ENST00000423158.3	+	2	937	c.725C>T	c.(724-726)tCa>tTa	p.S242L	NTF3_ENST00000331010.6_Missense_Mutation_p.S229L|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	229					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						GCACTGACTTCAGAGAACAAT	0.488000													8	41					0	0	0.335167	0	0
ZNF214	7761	broad.mit.edu	37	11	7021487	7021487	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:7021487C>A	ENST00000278314.4	-	3	1742	c.1427G>T	c.(1426-1428)gGg>gTg	p.G476V	ZNF214_ENST00000536068.1_Missense_Mutation_p.G476V	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GAAGCCCTTCCCACATTCAGG	0.443000													10	50					1.61879e-10	2.27903e-10	0.411799	1	0
SNX10	29887	broad.mit.edu	37	7	26400640	26400640	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:26400640G>T	ENST00000338523.4	+	3	257	c.70G>T	c.(70-72)Gac>Tac	p.D24Y	SNX10_ENST00000446848.2_Missense_Mutation_p.D50Y|SNX10_ENST00000396376.1_Missense_Mutation_p.D24Y|SNX10_ENST00000409367.1_5'UTR	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	24	PX.				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						TCAGAAGGAGGACTTCTGGCA	0.353000													23	56					2.41591e-17	3.96937e-17	0.681144	1	0
CTSG	1511	broad.mit.edu	37	14	25042962	25042962	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:25042962A>G	ENST00000216336.2	-	5	685	c.649T>C	c.(649-651)Tat>Cat	p.Y217H		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	217	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GACTTTCCATAGGAGACGATG	0.552000													30	83					0	0	0.760397	0	0
ZNF81	347344	broad.mit.edu	37	X	47775277	47775277	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:47775277A>G	ENST00000376954.1	+	6	1600	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G	ZNF81_ENST00000338637.7_Missense_Mutation_p.E411G			P51508	ZNF81_HUMAN	zinc finger protein 81	411						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CACACTGGAGAGAGACATCAC	0.418000													11	8					0	0	0.411799	0	0
P2RX3	5024	broad.mit.edu	37	11	57114087	57114087	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:57114087G>A	ENST00000263314.2	+	2	223	c.189G>A	c.(187-189)aaG>aaA	p.K63K		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	63					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TGGTAACCAAGGTGAAGGGCT	0.542000													11	34					0	0	0.411799	0	0
GALK2	2585	broad.mit.edu	37	15	49531417	49531417	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:49531417G>T	ENST00000327171.3	+	5	556		c.e5-1		GALK2_ENST00000560031.1_Splice_Site|GALK2_ENST00000544523.1_Splice_Site|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000559454.1_Splice_Site|GALK2_ENST00000543495.1_Splice_Site|GALK2_ENST00000396509.2_Splice_Site	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2						galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		TATATTCTTAGGAACACTTTG	0.408000													12	26					1.05317e-09	1.45682e-09	0.457914	1	0
ITGBL1	9358	broad.mit.edu	37	13	102366809	102366809	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:102366809G>T	ENST00000376180.3	+	10	1520	c.1301G>T	c.(1300-1302)tGc>tTc	p.C434F	ITGBL1_ENST00000376162.3_Missense_Mutation_p.C341F|ITGBL1_ENST00000545560.2_Missense_Mutation_p.C293F	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	434	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTGGGAAGTGCATTTGTTCT	0.408000													35	110					3.21399e-22	5.59845e-22	0.804634	1	0
TRIM42	287015	broad.mit.edu	37	3	140406626	140406626	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:140406626G>T	ENST00000286349.3	+	3	1293	c.1102G>T	c.(1102-1104)Gac>Tac	p.D368Y		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	368						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTTTAAAGCTGACAAGGAGGC	0.358000													9	19					0.00621372	0.00650775	0.335167	1	0
ZNF473	25888	broad.mit.edu	37	19	50542426	50542426	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:50542426G>C	ENST00000595661.1	+	4	513	c.18G>C	c.(16-18)gtG>gtC	p.V6V	ZNF473_ENST00000445728.3_5'UTR|ZNF473_ENST00000601364.1_Silent_p.V6V|ZNF473_ENST00000391821.2_Silent_p.V6V|ZNF473_ENST00000270617.3_Silent_p.V6V			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	6	KRAB.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGGAATTTGTGACCCTCAAGG	0.577000													84	54					0	0	0.870114	0	0
CMIP	80790	broad.mit.edu	37	16	81730228	81730228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:81730228G>T	ENST00000537098.3	+	14	1666	c.1594G>T	c.(1594-1596)Gga>Tga	p.G532*	CMIP_ENST00000539778.2_Nonsense_Mutation_p.G438*|CMIP_ENST00000398040.4_Nonsense_Mutation_p.G379*|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	498						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CTACAGCCCCGGAGGGGTGGC	0.647000													10	30					9.31168e-06	1.10347e-05	0.435327	1	0
GPR110	266977	broad.mit.edu	37	6	46995498	46995498	+	Splice_Site	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:46995498C>G	ENST00000371253.2	-	3	285		c.e3-1		GPR110_ENST00000371243.2_Splice_Site|GPR110_ENST00000449332.2_Intron	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CATCATTTTTCTGTTAAAAAG	0.343000													7	28					0	0	0.278610	0	0
KCNA10	3744	broad.mit.edu	37	1	111060633	111060633	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:111060633C>A	ENST00000369771.2	-	1	1164	c.777G>T	c.(775-777)aaG>aaT	p.K259N		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	259						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGAGGACTGTCTTGCTCATGT	0.547000													32	70					8.73648e-17	1.42607e-16	0.796494	1	0
SSPO	23145	broad.mit.edu	37	7	149477097	149477097	+	RNA	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:149477097G>T	ENST00000378016.2	+	0	1274							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)			TACTGCGCAGGGGCCATGGCA	0.637000													3	9					0.004672	0.00490332	0.115264	1	0
CPED1	79974	broad.mit.edu	37	7	120655843	120655843	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:120655843C>A	ENST00000310396.5	+	3	841	c.374C>A	c.(373-375)aCg>aAg	p.T125K	CPED1_ENST00000450913.2_Missense_Mutation_p.T125K|CPED1_ENST00000340646.5_Missense_Mutation_p.T125K|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CATGGCTATACGGTTGTCATC	0.498000													10	24					0.000978159	0.00106291	0.387290	1	0
MEFV	4210	broad.mit.edu	37	16	3299630	3299630	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:3299630C>A	ENST00000219596.1	-	3	1100	c.1061G>T	c.(1060-1062)cGg>cTg	p.R354L	MEFV_ENST00000339854.4_Missense_Mutation_p.R174L|MEFV_ENST00000541159.1_Missense_Mutation_p.R143L|MEFV_ENST00000536379.1_Missense_Mutation_p.R143L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	354					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GTCCTGGCACCGGGGGCAGCC	0.647000													3	11					0.115264	0.117529	0.115264	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43925971	43925971	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:43925971C>A	ENST00000389420.3	-	3	480	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.E161*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	161						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AAGAAATATTCACCGTTCTGT	0.343000													19	36					8.10497e-08	1.04614e-07	0.592651	1	0
PKP4	8502	broad.mit.edu	37	2	159477908	159477908	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:159477908G>C	ENST00000389757.3	+	6	703	c.578G>C	c.(577-579)aGa>aCa	p.R193T	PKP4_ENST00000389759.3_Missense_Mutation_p.R193T	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	193					cell adhesion	desmosome	protein binding	p.R193T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AGGAATTCAAGAGCTGAAGGA	0.493000										HNSCC(62;0.18)			14	22					0	0	0.500413	0	0
KLHL6	89857	broad.mit.edu	37	3	183273217	183273217	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:183273217G>C	ENST00000341319.3	-	1	260	c.225C>G	c.(223-225)atC>atG	p.I75M		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	75	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CCACACACAAGATGACATCTG	0.502000													37	77					0	0	0.834066	0	0
BCL11B	64919	broad.mit.edu	37	14	99641358	99641358	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:99641358G>A	ENST00000345514.2	-	3	1868	c.1602C>T	c.(1600-1602)ggC>ggT	p.G534G	BCL11B_ENST00000357195.3_Silent_p.G605G|BCL11B_ENST00000443726.2_Silent_p.G411G	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	605	Glu-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCGGCAGTGCGCCTAGGCCCA	0.756000			T	TLX3	T-ALL								10	52					0	0	0.411799	0	0
RPL3L	6123	broad.mit.edu	37	16	1995919	1995919	+	Missense_Mutation	SNP	G	G	T	rs143428526		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:1995919G>T	ENST00000268661.7	-	8	1058	c.964C>A	c.(964-966)Cac>Aac	p.H322N		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	322					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TCCCCGTAGTGGGGGAAGCCA	0.597000													19	63					1.22574e-08	1.62962e-08	0.624587	1	0
DHRS7	51635	broad.mit.edu	37	14	60611705	60611705	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:60611705G>C	ENST00000216500.5	-	8	1454	c.999C>G	c.(997-999)atC>atG	p.I333M	PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.I283M|DHRS7_ENST00000557185.1_Missense_Mutation_p.I333M			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	333							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TTGTCTTAAAGATTTTAAAAT	0.358000													5	62					0	0	0.184627	0	0
DYSF	8291	broad.mit.edu	37	2	71883330	71883330	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:71883330G>T	ENST00000258104.3	+	42	4825	c.4548G>T	c.(4546-4548)gaG>gaT	p.E1516D	DYSF_ENST00000410041.1_Missense_Mutation_p.E1534D|DYSF_ENST00000409366.1_Missense_Mutation_p.E1538D|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Missense_Mutation_p.E1533D|DYSF_ENST00000394120.2_Missense_Mutation_p.E1517D|DYSF_ENST00000409744.1_Missense_Mutation_p.E1524D|DYSF_ENST00000413539.2_Missense_Mutation_p.E1547D|DYSF_ENST00000409582.3_Missense_Mutation_p.E1554D|DYSF_ENST00000429174.2_Missense_Mutation_p.E1537D|DYSF_ENST00000409651.1_Missense_Mutation_p.E1548D|DYSF_ENST00000410020.3_Missense_Mutation_p.E1555D	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1516						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGGCCTTTGAGGGCCTGTCTG	0.483000													115	187					3.48894e-57	6.68899e-57	0.870114	1	0
ZNF79	7633	broad.mit.edu	37	9	130207408	130207408	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:130207408G>T	ENST00000342483.5	+	5	1835	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	ZNF79_ENST00000543471.1_Nonsense_Mutation_p.E453*	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CGAATGCAGCGAGTGTGGGAA	0.517000													42	81					4.44712e-29	8.05406e-29	0.870114	1	0
TPTE	7179	broad.mit.edu	37	21	10969100	10969100	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr21:10969100C>T	ENST00000361285.4	-	7	477	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	50					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GACACCCGGGCTGCTCCTTTA	0.468000													25	134					0	0	0.729181	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379825	204379825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:204379825G>A	ENST00000367188.4	-	1	1094	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	239					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TCACTGTTCTGATAGCTGACT	0.507000													31	75					0	0	0.788014	0	0
DCDC2B	149069	broad.mit.edu	37	1	32680429	32680429	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:32680429C>A	ENST00000409358.1	+	7	746	c.746C>A	c.(745-747)cCc>cAc	p.P249H		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	249					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GTAACCCAGCCCTCTCCAAAG	0.557000													9	39					0.000274275	0.000303965	0.307466	1	0
NOL11	25926	broad.mit.edu	37	17	65739938	65739938	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:65739938G>C	ENST00000253247.4	+	18	2238	c.2123G>C	c.(2122-2124)aGa>aCa	p.R708T	NOL11_ENST00000535137.1_Missense_Mutation_p.R526T	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	708						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGAATAATAGAGGATTATAT	0.318000													7	40					0	0	0.248553	0	0
THBS1	7057	broad.mit.edu	37	15	39882766	39882766	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:39882766A>G	ENST00000260356.5	+	14	2360	c.2195A>G	c.(2194-2196)gAt>gGt	p.D732G		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	732					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TATGACAAGGATGGAATTGGT	0.413000													19	40					0	0	0.693898	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107169997	107169997	+	RNA	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:107169997C>G	ENST00000390633.2	-	0	345																											AGGCTGTGCTCGTGGATTTGT	0.532000													79	181					0	0	0.870114	0	0
DIAPH3	81624	broad.mit.edu	37	13	60240873	60240873	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:60240873G>A	ENST00000400324.4	-	28	3647	c.3427C>T	c.(3427-3429)Cat>Tat	p.H1143Y	DIAPH3_ENST00000400319.1_Missense_Mutation_p.H1073Y|DIAPH3_ENST00000400320.1_Missense_Mutation_p.H1097Y|DIAPH3_ENST00000400330.1_Missense_Mutation_p.H1143Y|DIAPH3_ENST00000377908.2_Missense_Mutation_p.H1132Y	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1143					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTAGACGTATGAGTGTCTAGA	0.423000													28	59					0	0	0.760397	0	0
VWCE	220001	broad.mit.edu	37	11	61026292	61026292	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:61026292G>A	ENST00000335613.5	-	20	3109	c.2723C>T	c.(2722-2724)cCc>cTc	p.P908L	VWCE_ENST00000535710.1_Missense_Mutation_p.P373L	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	908						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGTCTTCGAGGGGCTGGGGTC	0.647000													18	35					0	0	0.592651	0	0
TRIM37	4591	broad.mit.edu	37	17	57157191	57157191	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:57157191C>A	ENST00000376149.3	-	7	983	c.174G>T	c.(172-174)cgG>cgT	p.R58R	TRIM37_ENST00000393065.2_Silent_p.R146R|TRIM37_ENST00000262294.7_Silent_p.R180R|TRIM37_ENST00000393066.3_Silent_p.R180R			O94972	TRI37_HUMAN	tripartite motif containing 37	180						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCTAATTTCCCGAACACGCT	0.363000									Mulibrey Nanism				29	99					2.08457e-15	3.30587e-15	0.750413	1	0
MUC16	94025	broad.mit.edu	37	19	8982316	8982316	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:8982316C>A	ENST00000397910.4	-	70	42162	c.41959G>T	c.(41959-41961)Ggt>Tgt	p.G13987C	MUC16_ENST00000380951.5_Missense_Mutation_p.G628C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14012	SEA 13.			Missing (in Ref. 3; AAK74120).	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						GTCTCAGCACCGTTCTTCACA	0.587000													16	30					3.62473e-10	5.0605e-10	0.608945	1	0
MOXD1	26002	broad.mit.edu	37	6	132695876	132695876	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:132695876G>A	ENST00000367963.3	-	2	423	c.305C>T	c.(304-306)gCt>gTt	p.A102V	MOXD1_ENST00000336749.3_Missense_Mutation_p.A34V	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	102	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ATCTTGCTGAGCATCTTTTTT	0.323000													11	34					0	0	0.361761	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629929	9629929	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:9629929G>T	ENST00000382492.2	-	1	534	c.216C>A	c.(214-216)ttC>ttA	p.F72L	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	72					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TGAATTCTATGAAGAAGATAA	0.383000													5	16					0.014758	0.0152967	0.184627	1	0
WBSCR17	64409	broad.mit.edu	37	7	70880961	70880961	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:70880961C>A	ENST00000333538.5	+	4	1310	c.676C>A	c.(676-678)Ctg>Atg	p.L226M	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	226	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L226M(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAGGGAAGGCCTGATCCGCGC	0.567000													22	44					2.44723e-14	3.79699e-14	0.681144	1	0
ATP6V0D2	245972	broad.mit.edu	37	8	87163695	87163695	+	Splice_Site	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:87163695G>A	ENST00000285393.3	+	7	959	c.816_splice	c.e7-1	p.V273_splice	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	273					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TGTTTTTAAGGTATACAAACC	0.294000													25	33					0	0	0.693898	0	0
COL4A1	1282	broad.mit.edu	37	13	110814614	110814614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:110814614G>T	ENST00000375820.4	-	48	4546	c.4425C>A	c.(4423-4425)taC>taA	p.Y1475*	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1475	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGCCTTGCACGTAGAGCAAAG	0.502000													69	208					2.65773e-34	4.91387e-34	0.870114	1	0
REM1	28954	broad.mit.edu	37	20	30064329	30064329	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:30064329C>A	ENST00000201979.2	+	2	374	c.81C>A	c.(79-81)ggC>ggA	p.G27G	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	27					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCCCACGGGGCCACCAGCCTG	0.647000													18	51					4.96729e-08	6.46134e-08	0.575678	1	0
KAZALD1	81621	broad.mit.edu	37	10	102822842	102822842	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:102822842C>A	ENST00000370200.5	+	2	819	c.493C>A	c.(493-495)Ccg>Acg	p.P165T		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	165	Kazal-like.				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding			endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		TGTGGCACACCCGGGGCCCTG	0.687000													7	13					0.27861	0.281604	0.278610	1	0
FRG2B	441581	broad.mit.edu	37	10	135440114	135440114	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:135440114T>A	ENST00000443774.1	-	1	182	c.133A>T	c.(133-135)Aag>Tag	p.K45*	FRG2B_ENST00000425520.1_Nonsense_Mutation_p.K45*			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	45						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AAGGCGGTCTTGCCTTTTTCT	0.507000													12	33					0	0	0.500413	0	0
GABRG3	2567	broad.mit.edu	37	15	27222262	27222262	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:27222262G>T	ENST00000333743.6	+	2	421	c.167G>T	c.(166-168)aGa>aTa	p.R56I	GABRG3_ENST00000555083.1_Missense_Mutation_p.R56I	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	56					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AAGTTGCTAAGAGAATATGAT	0.348000													12	76					1.5739e-10	2.21998e-10	0.500413	1	0
NBAS	51594	broad.mit.edu	37	2	15644305	15644305	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:15644305T>A	ENST00000281513.5	-	11	943	c.918A>T	c.(916-918)ttA>ttT	p.L306F	NBAS_ENST00000441750.1_Missense_Mutation_p.L306F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	306										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTTGACACTTAACATCCTTA	0.368000													18	54					0	0	0.592651	0	0
URI1	8725	broad.mit.edu	37	19	30505918	30505918	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:30505918A>G	ENST00000392271.1	+	11	1847	c.1322A>G	c.(1321-1323)gAa>gGa	p.E441G	URI1_ENST00000542441.2_Missense_Mutation_p.E517G|URI1_ENST00000360605.4_Intron|URI1_ENST00000312051.6_Missense_Mutation_p.E477G	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	517					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										GAAGCATCTGAAGAAACTGGA	0.433000													24	49					0	0	0.667858	0	0
UGT1A8	54576	broad.mit.edu	37	2	234526798	234526798	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:234526798C>A	ENST00000373450.4	+	1	508	c.445C>A	c.(445-447)Cct>Act	p.P149T		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		GTTTCTTGATCCTTTTGATGC	0.393000													21	102					1.87028e-06	2.2959e-06	0.608945	1	0
TRERF1	55809	broad.mit.edu	37	6	42225893	42225893	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:42225893C>G	ENST00000541110.1	-	10	2944	c.2376G>C	c.(2374-2376)gaG>gaC	p.E792D	TRERF1_ENST00000372917.4_Missense_Mutation_p.E689D|TRERF1_ENST00000340840.2_Missense_Mutation_p.E689D|TRERF1_ENST00000354325.2_Missense_Mutation_p.E689D|TRERF1_ENST00000372922.4_Missense_Mutation_p.E772D			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	772	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTACAGTCTGCTCTCCAGGCC	0.433000													8	38					0	0	0.387290	0	0
CR1	1378	broad.mit.edu	37	1	207700188	207700188	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:207700188G>T	ENST00000367049.4	+	6	977	c.977G>T	c.(976-978)tGt>tTt	p.C326F	CR1_ENST00000367050.4_Intron|CR1_ENST00000367052.1_Missense_Mutation_p.C326F|CR1_ENST00000367053.1_Missense_Mutation_p.C326F|CR1_ENST00000400960.2_Missense_Mutation_p.C326F|CR1_ENST00000367051.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	326	Sushi 5.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTCTACAGCTGTGAGCCCGGC	0.587000													42	176					6.81593e-30	1.23739e-29	0.870114	1	0
POTEE	445582	broad.mit.edu	37	2	132021826	132021826	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:132021826G>T	ENST00000356920.5	+	15	2892	c.2798G>T	c.(2797-2799)aGc>aTc	p.S933I	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	933	Actin-like.						ATP binding										GCGGCCTCCAGCTCCTCCCTA	0.617000													56	195					1.53134e-21	2.64296e-21	0.870114	1	0
MRPL44	65080	broad.mit.edu	37	2	224822340	224822340	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:224822340C>T	ENST00000258383.3	+	1	220	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	51					RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCAGCGCCTTCTGCGGTGCCC	0.697000													4	12					0	0	0.150653	0	0
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:7578457C>G	ENST00000420246.2	-	5	605	c.473G>C	c.(472-474)cGc>cCc	p.R158P	TP53_ENST00000445888.2_Missense_Mutation_p.R158P|TP53_ENST00000455263.2_Missense_Mutation_p.R158P|TP53_ENST00000359597.4_Missense_Mutation_p.R158P|TP53_ENST00000413465.2_Missense_Mutation_p.R158P|TP53_ENST00000269305.4_Missense_Mutation_p.R158P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCATGGCGCGGACGCGGGT	0.627000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			54	30					0	0	0.870114	0	0
PLEC	5339	broad.mit.edu	37	8	144991003	144991003	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:144991003C>A	ENST00000322810.4	-	32	13566	c.13397G>T	c.(13396-13398)cGc>cTc	p.R4466L	PLEC_ENST00000345136.3_Missense_Mutation_p.R4329L|PLEC_ENST00000527096.1_Missense_Mutation_p.R4352L|PLEC_ENST00000436759.2_Missense_Mutation_p.R4356L|PLEC_ENST00000398774.2_Missense_Mutation_p.R4297L|PLEC_ENST00000354589.3_Missense_Mutation_p.R4329L|PLEC_ENST00000357649.2_Missense_Mutation_p.R4333L|PLEC_ENST00000354958.2_Missense_Mutation_p.R4307L|PLEC_ENST00000356346.3_Missense_Mutation_p.R4315L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4466	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACAGGGAAGCGCTCACCGGT	0.657000													34	43					1.47197e-15	2.34177e-15	0.834066	1	0
TRPV3	162514	broad.mit.edu	37	17	3417887	3417887	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:3417887C>T	ENST00000572519.1	-	17	2409	c.2278G>A	c.(2278-2280)Ggt>Agt	p.G760S	TRPV3_ENST00000576742.1_Splice_Site_p.D760_splice|TRPV3_ENST00000301365.4_Splice_Site_p.A760_splice			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	0						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GCGACAGTACCTGTTCGTCTT	0.502000													25	13					0	0	0.706142	0	0
ERBB4	2066	broad.mit.edu	37	2	212426702	212426702	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:212426702A>C	ENST00000342788.4	-	20	2723	c.2413T>G	c.(2413-2415)Ttg>Gtg	p.L805V	ERBB4_ENST00000402597.1_Missense_Mutation_p.L795V|ERBB4_ENST00000436443.1_Missense_Mutation_p.L805V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	805	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACATACTCCAACAGGCAGCCA	0.493000										TSP Lung(8;0.080)			18	156					0	0	0.557998	0	0
TSHR	7253	broad.mit.edu	37	14	81609993	81609993	+	Silent	SNP	C	C	A	rs139892516		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:81609993C>A	ENST00000541158.2	+	11	1913	c.1591C>A	c.(1591-1593)Cgg>Agg	p.R531R	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.R531R			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	531					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCGCCTGGACCGGAAGATCCG	0.562000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						7	20					1.26484e-09	1.74003e-09	0.278610	1	0
HELB	92797	broad.mit.edu	37	12	66703861	66703861	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:66703861G>A	ENST00000247815.4	+	4	1212	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	385					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TGTCGAAAAGGTGCTTGCCTC	0.418000													28	114					0	0	0.717897	0	0
ZNF98	148198	broad.mit.edu	37	19	22574545	22574545	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:22574545C>T	ENST00000357774.5	-	4	1613	c.1492G>A	c.(1492-1494)Gct>Act	p.A498T		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TGGTTAAAAGCTTTGCCACAT	0.403000													24	126					0	0	0.779181	0	0
MUC3A	4584	broad.mit.edu	37	7	100552236	100552236	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:100552236C>T	ENST00000319509.7	+	1	987	c.987C>T	c.(985-987)acC>acT	p.T329T						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TAACAATTACCATAGTCCCTG	0.483000													36	250					0	0	0.804634	0	0
COL25A1	84570	broad.mit.edu	37	4	109931531	109931531	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:109931531C>A	ENST00000399132.1	-	6	951	c.420_splice	c.e6-1	p.G141_splice	COL25A1_ENST00000399126.1_Splice_Site_p.G141_splice|COL25A1_ENST00000399127.1_Splice_Site_p.G141_splice	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	141	Collagen-like 1.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCAGGCTGTCCCTGAAATTAA	0.308000													8	7					4.1943e-16	6.75126e-16	0.361761	1	0
PLCE1	51196	broad.mit.edu	37	10	96058414	96058414	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:96058414T>A	ENST00000260766.3	+	24	6080	c.5446T>A	c.(5446-5448)Tac>Aac	p.Y1816N	PLCE1_ENST00000371385.3_Missense_Mutation_p.Y1508N|PLCE1_ENST00000371375.1_Missense_Mutation_p.Y1508N|PLCE1_ENST00000371380.2_Missense_Mutation_p.Y1816N	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1816	PI-PLC Y-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGCACTCAACTACCAGACTGA	0.507000													35	129					0	0	0.859065	0	0
ANK2	287	broad.mit.edu	37	4	114179283	114179283	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:114179283T>A	ENST00000357077.4	+	12	1319	c.1266T>A	c.(1264-1266)gcT>gcA	p.A422A	ANK2_ENST00000506722.1_Silent_p.A401A|ANK2_ENST00000264366.6_Silent_p.A422A|ANK2_ENST00000394537.3_Silent_p.A422A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	422					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATATGGGGCTTCAATCCAAG	0.408000													17	30					0	0	0.575678	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40823471	40823471	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:40823471C>G	ENST00000293349.6	-	8	1612	c.1182G>C	c.(1180-1182)gaG>gaC	p.E394D	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.E394D|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.E394D			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	394	MyTH4.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		ACGCGGAAATCTCCGCCAGCG	0.682000													11	20					0	0	0.435327	0	0
FLNB	2317	broad.mit.edu	37	3	58083619	58083619	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:58083619C>T	ENST00000357272.4	+	7	1227	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	FLNB_ENST00000419752.2_Silent_p.A185A|FLNB_ENST00000429972.2_Silent_p.A354A|FLNB_ENST00000348383.5_Silent_p.A354A|FLNB_ENST00000295956.4_Silent_p.A354A|FLNB_ENST00000493452.1_Silent_p.A185A|FLNB_ENST00000490882.1_Silent_p.A354A|FLNB_ENST00000358537.3_Silent_p.A354A			O75369	FLNB_HUMAN	filamin B, beta	354					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGGAGATGCCAGTAAAGTCA	0.507000													11	27					0	0	0.387290	0	0
NOBOX	135935	broad.mit.edu	37	7	144098216	144098216	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:144098216T>C	ENST00000467773.1	-	4	766	c.767A>G	c.(766-768)cAa>cGa	p.Q256R	NOBOX_ENST00000223140.5_Missense_Mutation_p.Q171R|NOBOX_ENST00000483238.1_Missense_Mutation_p.Q256R	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	256					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GTCTCTGTTTTGGTTGCTCTG	0.577000													10	17					0	0	0.335167	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000636	52000636	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:52000636A>T	ENST00000291707.3	-	6	1524	c.1469T>A	c.(1468-1470)cTg>cAg	p.L490Q	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.L372Q	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	490					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGGAAGACCAGGGCTGTGGC	0.557000													26	53					0	0	0.859065	0	0
ADCY3	109	broad.mit.edu	37	2	25061491	25061491	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:25061491C>A	ENST00000260600.5	-	7	2207	c.1355_splice	c.e7-1	p.G452_splice	ADCY3_ENST00000405392.1_Splice_Site_p.E85_splice	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	452					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TGTGCACGCGCCTGGATTGCA	0.647000													44	76					5.2432e-18	8.69055e-18	0.870114	1	0
OR6B1	135946	broad.mit.edu	37	7	143701462	143701462	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:143701462G>T	ENST00000408922.2	+	1	441	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CCGGTATGTGGCCATCTGTCG	0.537000													20	72					1.01871e-10	1.43959e-10	0.575678	1	0
IGHV3-9	28451	broad.mit.edu	37	14	106552330	106552330	+	RNA	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:106552330G>T	ENST00000390600.2	-	0	388																											CTCTCAGACTGTTCATTTGCA	0.498000													65	206					3.82405e-32	7.01853e-32	0.870114	1	0
TBP	6908	broad.mit.edu	37	6	170871116	170871116	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:170871116G>A	ENST00000392092.2	+	3	571	c.292G>A	c.(292-294)Gca>Aca	p.A98T	TBP_ENST00000540980.1_Missense_Mutation_p.A78T|TBP_ENST00000230354.6_Missense_Mutation_p.A98T	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	98					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		acaggcagtggcagctgcagc	0.622000													15	33					0	0	0.500413	0	0
ELOVL4	6785	broad.mit.edu	37	6	80634726	80634726	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:80634726C>A	ENST00000369816.4	-	3	612	c.312G>T	c.(310-312)gcG>gcT	p.A104A		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	104					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	p.A104A(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AGCTATATCCCGCATTATATG	0.279000													20	37					9.57634e-11	1.3571e-10	0.654019	1	0
RP9	6100	broad.mit.edu	37	7	33136953	33136953	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:33136953C>A	ENST00000297157.3	-	4	352	c.335G>T	c.(334-336)gGt>gTt	p.G112V		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	112	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			CGTTCGGTGACCATAGCGTTT	0.373000													17	36					3.41278e-10	4.76902e-10	0.520397	1	0
SV2B	9899	broad.mit.edu	37	15	91769719	91769719	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:91769719G>T	ENST00000394232.1	+	2	696	c.226G>T	c.(226-228)Ggc>Tgc	p.G76C	SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.G76C	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	76					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CAGCCTTCGGGGCCAGACAGA	0.587000													7	17					0.00307968	0.00326403	0.278610	1	0
ZNF223	7766	broad.mit.edu	37	19	44570392	44570392	+	Silent	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:44570392A>G	ENST00000591793.1	+	7	824	c.741A>G	c.(739-741)ggA>ggG	p.G247G	ZNF223_ENST00000434772.3_Silent_p.G137G			Q9UK11	ZN223_HUMAN	zinc finger protein 223	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TTGAGGAAGGACTATCTATAA	0.438000													22	66					0	0	0.608945	0	0
TM6SF2	53345	broad.mit.edu	37	19	19378887	19378887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:19378887C>A	ENST00000389363.4	-	7	691	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	207						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			TTTCTTTGTTCCTCTTGCACC	0.522000													17	7					1.99824e-07	2.52931e-07	0.520397	1	0
C8A	731	broad.mit.edu	37	1	57349308	57349308	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:57349308C>T	ENST00000361249.3	+	6	905	c.809C>T	c.(808-810)tCa>tTa	p.S270L		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	270	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GTATCCCACTCACAAGACACT	0.408000													19	25					0	0	0.639603	0	0
CMTM2	146225	broad.mit.edu	37	16	66613615	66613615	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:66613615G>A	ENST00000268595.2	+	1	256	c.105G>A	c.(103-105)tcG>tcA	p.S35S	CMTM2_ENST00000379486.2_Silent_p.S35S	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	35					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		AGGAGCCATCGGACAAACCTC	0.617000													6	62					0	0	0.278610	0	0
ZNF81	347344	broad.mit.edu	37	X	47775276	47775276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:47775276G>T	ENST00000376954.1	+	6	1599	c.1231G>T	c.(1231-1233)Gag>Tag	p.E411*	ZNF81_ENST00000338637.7_Nonsense_Mutation_p.E411*			P51508	ZNF81_HUMAN	zinc finger protein 81	411						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCACACTGGAGAGAGACATCA	0.423000													10	8					6.40141e-05	7.28203e-05	0.387290	1	0
EIF4G3	8672	broad.mit.edu	37	1	21220017	21220017	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:21220017C>A	ENST00000602326.1	-	16	2679	c.2096G>T	c.(2095-2097)gGc>gTc	p.G699V	EIF4G3_ENST00000544689.1_Missense_Mutation_p.G236V|EIF4G3_ENST00000536266.1_Missense_Mutation_p.G297V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.G693V|EIF4G3_ENST00000537738.1_Missense_Mutation_p.G146V|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374937.3_Missense_Mutation_p.G699V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G693V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.G413V	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	693	eIF3/EIF4A-binding (By similarity).	Cleavage; by enterovirus/rhinovirus protease 2A.			interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TACAGGTACGCCTCTTCCACC	0.473000													11	37					0.000151284	0.000170422	0.435327	1	0
ANAPC4	29945	broad.mit.edu	37	4	25391839	25391839	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:25391839A>T	ENST00000315368.3	+	8	739	c.597A>T	c.(595-597)acA>acT	p.T199T	ANAPC4_ENST00000510092.1_Silent_p.T199T	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	199					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CTCGAGTCACAGGGGTAAGAT	0.308000													3	48					0	0	0.115264	0	0
SEL1L2	80343	broad.mit.edu	37	20	13894500	13894500	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:13894500G>T	ENST00000284951.5	-	5	551	c.477C>A	c.(475-477)ggC>ggA	p.G159G	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.G159G			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	159						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TATTTTGCACGCCAAAATTTC	0.393000													19	16					2.94398e-08	3.87298e-08	0.557998	1	0
NOS3	4846	broad.mit.edu	37	7	150707685	150707685	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:150707685G>T	ENST00000297494.3	+	22	3043	c.2685_splice	c.e22-1	p.D896_splice	NOS3_ENST00000461406.1_Splice_Site_p.D690_splice|NOS3_ENST00000477227.1_3'UTR	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	896	FAD-binding FR-type.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCCCCGCCAGGATCCCCGACG	0.647000													6	11					0.00198382	0.00212502	0.248553	1	0
KIF14	9928	broad.mit.edu	37	1	200534316	200534316	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:200534316C>T	ENST00000367350.4	-	25	4390	c.3952G>A	c.(3952-3954)Gta>Ata	p.V1318I		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1318	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTAGCACTACTAGCTGCTCA	0.383000													71	143					0	0	0.870114	0	0
USH2A	7399	broad.mit.edu	37	1	216258067	216258067	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:216258067T>A	ENST00000366943.2	-	25	5526	c.5140A>T	c.(5140-5142)Aat>Tat	p.N1714Y	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.N1714Y|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1714	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTCCCTCATTTAATGAAGCG	0.403000										HNSCC(13;0.011)			12	83					0	0	0.479597	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91526737	91526737	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:91526737G>T	ENST00000261991.3	-	1	215	c.42C>A	c.(40-42)acC>acA	p.T14T	RPS6KA5_ENST00000418736.2_Silent_p.T14T	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	14					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CGTCCGCGCTGGTCCCCGCGG	0.721000													3	9					6.4e-05	7.28203e-05	0.115264	1	0
MC3R	4159	broad.mit.edu	37	20	54824378	54824378	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:54824378A>T	ENST00000243911.2	+	1	591	c.479A>T	c.(478-480)aAg>aTg	p.K160M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	197					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ACCGTGAGGAAGGCCCTCACC	0.587000													32	84					0	0	0.788014	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377003	50377003	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:50377003C>T	ENST00000376020.2	-	4	2095	c.2070G>A	c.(2068-2070)agG>agA	p.R690R	SHROOM4_ENST00000289292.7_Silent_p.R690R|SHROOM4_ENST00000460112.3_Silent_p.R574R	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	690					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ACTGGCCAGGCCTCTGGCCAG	0.582000													6	7					0	0	0.217242	0	0
METTL7B	196410	broad.mit.edu	37	12	56075848	56075848	+	Missense_Mutation	SNP	G	G	C	rs141569755		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:56075848G>C	ENST00000394252.3	+	1	519	c.310G>C	c.(310-312)Gag>Cag	p.E104Q		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	104							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						TCCCCACTTTGAGAAGTTCCT	0.572000													13	17					0	0	0.457914	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713356	70713356	+	RNA	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:70713356T>C	ENST00000530196.1	-	0	1162					NR_003951.1																						ACCTAACTCATGGGCCACAGT	0.433000													25	222					0	0	0.760397	0	0
TET3	200424	broad.mit.edu	37	2	74274555	74274555	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:74274555C>T	ENST00000409262.3	+	1	1106	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	369							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCGGCCCCATCCCCTGTACTT	0.652000													8	11					0	0	0.278610	0	0
MXRA5	25878	broad.mit.edu	37	X	3239345	3239345	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:3239345C>G	ENST00000217939.6	-	5	4535	c.4381G>C	c.(4381-4383)Gat>Cat	p.D1461H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1461						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGATCTTGATCAAGGGTGGTG	0.493000													9	6					0	0	0.307466	0	0
AE000661.37	0	broad.mit.edu	37	14	22933199	22933199	+	RNA	SNP	T	T	C	rs116460364	by1000genomes	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:22933199T>C	ENST00000514473.2	-	0	225				TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA																							TTTTCAGCCATAGTTCATACC	0.478000													10	16					0	0	0.335167	0	0
NFYA	4800	broad.mit.edu	37	6	41060812	41060812	+	Silent	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:41060812A>G	ENST00000341376.6	+	8	1077	c.876A>G	c.(874-876)ccA>ccG	p.P292P	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Silent_p.P263P	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	292					transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGAAAATTCCAAAGGAGAGAA	0.413000													5	26					0	0	0.248553	0	0
LPHN3	23284	broad.mit.edu	37	4	62758597	62758597	+	Silent	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:62758597T>G	ENST00000512091.1	+	9	2247	c.1500T>G	c.(1498-1500)gcT>gcG	p.A500A	LPHN3_ENST00000506700.1_Silent_p.A500A|LPHN3_ENST00000506720.1_Silent_p.A568A|LPHN3_ENST00000509896.1_Silent_p.A568A|LPHN3_ENST00000504896.1_Silent_p.A500A|LPHN3_ENST00000514157.1_Silent_p.A500A|LPHN3_ENST00000514996.1_Silent_p.A500A|LPHN3_ENST00000508693.1_Silent_p.A568A|LPHN3_ENST00000508946.1_Silent_p.A500A|LPHN3_ENST00000506746.1_Silent_p.A568A|LPHN3_ENST00000511324.1_Silent_p.A568A|LPHN3_ENST00000514591.1_Silent_p.A500A|LPHN3_ENST00000507164.1_Silent_p.A568A|LPHN3_ENST00000507625.1_Silent_p.A568A|LPHN3_ENST00000545650.1_Silent_p.A500A			Q9HAR2	LPHN3_HUMAN	latrophilin 3	500					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GCTGTGAGGCTGTGGAAGCCC	0.507000													4	8					0	0	0.150653	0	0
DNAJC22	79962	broad.mit.edu	37	12	49742871	49742871	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:49742871G>T	ENST00000549441.2	+	3	1420	c.216G>T	c.(214-216)gtG>gtT	p.V72V	DNAJC22_ENST00000395069.3_Silent_p.V72V			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	72					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						CCAGAGGGGTGACACCCCCTC	0.577000													24	47					4.87955e-14	7.47834e-14	0.693898	1	0
EFCAB3	146779	broad.mit.edu	37	17	60472491	60472491	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:60472491C>A	ENST00000450662.2	+	8	657	c.586C>A	c.(586-588)Cta>Ata	p.L196I	EFCAB3_ENST00000305286.3_Missense_Mutation_p.L144I	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	144							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GTTTGAAATCCTATCAAGGCT	0.393000													19	89					1.96895e-08	2.60164e-08	0.639603	1	0
SLC16A12	387700	broad.mit.edu	37	10	91222194	91222194	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:91222194C>A	ENST00000341233.4	-	3	442	c.52G>T	c.(52-54)Ggc>Tgc	p.G18C	RP11-168O10.6_ENST00000454270.1_RNA|SLC16A12_ENST00000371790.4_Missense_Mutation_p.G48C	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	18						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						ATCATCCAGCCCCAGCCTCCA	0.468000													32	87					2.19358e-23	3.8567e-23	0.812448	1	0
SLAMF6	114836	broad.mit.edu	37	1	160461040	160461040	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:160461040G>A	ENST00000368059.3	-	3	590	c.521C>T	c.(520-522)tCa>tTa	p.S174L	SLAMF6_ENST00000368057.3_Missense_Mutation_p.S174L|SLAMF6_ENST00000368055.1_Missense_Mutation_p.S63L	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	174	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TGGCTGACTTGAAAGTGTGTT	0.473000													33	67					0	0	0.840704	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158053870	158053870	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:158053870A>T	ENST00000359775.5	+	5	1597	c.708A>T	c.(706-708)tcA>tcT	p.S236S	ZDHHC14_ENST00000414563.2_Silent_p.S236S|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	236						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CCACAGGTTCACAGCAAACAG	0.388000													78	228					0	0	0.870114	0	0
EPHA8	2046	broad.mit.edu	37	1	22927967	22927967	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:22927967G>T	ENST00000166244.3	+	16	2975		c.e16+1			NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8							integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGAACGCCCAGTGAGTGATGG	0.692000													11	21					9.70103e-10	1.34439e-09	0.361761	1	0
PSG4	5672	broad.mit.edu	37	19	43708260	43708260	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:43708260C>A	ENST00000405312.3	-	2	445	c.208G>T	c.(208-210)Ggg>Tgg	p.G70W	PSG4_ENST00000244295.9_Missense_Mutation_p.G70W|PSG4_ENST00000433626.2_Missense_Mutation_p.G70W	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	70	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GTCATTTGCCCTTTGTACCAA	0.423000													109	113					1.51877e-38	2.84297e-38	0.870114	1	0
KMT2D	8085	broad.mit.edu	37	12	49438017	49438017	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:49438017C>A	ENST00000301067.7	-	21	5153	c.5154G>T	c.(5152-5154)gcG>gcT	p.A1718A		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCAACACCTCCGCCTGTGCAG	0.617000											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	16					0.000442599	0.000486924	0.335167	1	0
TECRL	253017	broad.mit.edu	37	4	65147211	65147211	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:65147211C>T	ENST00000381210.3	-	10	1009	c.899G>A	c.(898-900)tGt>tAt	p.C300Y	TECRL_ENST00000507440.1_Missense_Mutation_p.C300Y	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	300					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.C300fs*2(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTAGTTAGGACATGAAACCAG	0.323000													6	38					0	0	0.278610	0	0
EML4	27436	broad.mit.edu	37	2	42522520	42522520	+	Splice_Site	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:42522520G>A	ENST00000318522.5	+	13	1615		c.e13-1		EML4_ENST00000402711.2_Splice_Site|EML4_ENST00000401738.3_Splice_Site	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4						microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TTTCCTTGTAGAAATATGAAA	0.318000			T	ALK	NSCLC								29	59					0	0	0.788014	0	0
MMP27	64066	broad.mit.edu	37	11	102575398	102575398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:102575398C>A	ENST00000260229.4	-	2	302	c.211G>T	c.(211-213)Gga>Tga	p.G71*		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	71					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		ACTGTCAATCCAAAAAATGCT	0.453000													4	26					0.150653	0.153198	0.150653	1	0
GPRC5A	9052	broad.mit.edu	37	12	13061883	13061883	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:13061883C>T	ENST00000014914.5	+	2	1590	c.700C>T	c.(700-702)Cct>Tct	p.P234S	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	234						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GCTCATGCTTCCTGACTTTGA	0.572000													33	46					0	0	0.760397	0	0
KRT79	338785	broad.mit.edu	37	12	53225306	53225306	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:53225306G>T	ENST00000330553.5	-	2	616	c.582C>A	c.(580-582)ctC>ctA	p.L194L		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	194	Linker 1.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGGCCTCAAAGAGGGGCTCCA	0.607000													7	65					1.12685e-05	1.327e-05	0.307466	1	0
LHFP	10186	broad.mit.edu	37	13	40175066	40175066	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:40175066G>A	ENST00000379589.3	-	2	750	c.288C>T	c.(286-288)ctC>ctT	p.L96L		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	96						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		CCACCAGGAGGAGGAGGCCAC	0.592000			T	HMGA2	lipoma								26	75					0	0	0.729181	0	0
C11orf82	220042	broad.mit.edu	37	11	82644895	82644895	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:82644895G>T	ENST00000533655.1	+	6	2727	c.2515G>T	c.(2515-2517)Gta>Tta	p.V839L	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Missense_Mutation_p.V538L|C11orf82_ENST00000430323.2_Missense_Mutation_p.V839L	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	839					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AAGCCCTATTGTATCTGGTGT	0.398000													3	22					0.004672	0.00490332	0.115264	1	0
SORCS3	22986	broad.mit.edu	37	10	106974319	106974319	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:106974319G>T	ENST00000369701.3	+	18	2722	c.2495G>T	c.(2494-2496)cGg>cTg	p.R832L	SORCS3_ENST00000369699.4_Missense_Mutation_p.R118L	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	832	PKD.					integral to membrane	neuropeptide receptor activity	p.R832L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACCGATGGGCGGCTGGTGGCA	0.582000													10	29					4.3838e-07	5.4752e-07	0.435327	1	0
LRP1B	53353	broad.mit.edu	37	2	141202233	141202233	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:141202233T>G	ENST00000389484.3	-	64	11044	c.10073A>C	c.(10072-10074)cAg>cCg	p.Q3358P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3358	LDL-receptor class A 22.				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)		TCGGCCTGGCTGACATCTAAA	0.408000										TSP Lung(27;0.18)			12	69					0	0	0.457914	0	0
SMAP2	64744	broad.mit.edu	37	1	40882506	40882506	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:40882506C>T	ENST00000539317.1	+	9	855	c.662C>T	c.(661-663)cCc>cTc	p.P221L		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	301	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CCCAGCTTCCCCGGGGTTACA	0.542000													7	43					0	0	0.307466	0	0
HTR2C	3358	broad.mit.edu	37	X	114141351	114141351	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:114141351C>A	ENST00000276198.1	+	6	1478	c.750C>A	c.(748-750)caC>caA	p.H250Q	HTR2C_ENST00000371950.3_Silent_p.R219R|HTR2C_ENST00000371951.1_Missense_Mutation_p.H250Q	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	250					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGTTACTGCACGGCCACACCG	0.512000													54	60					2.5401e-28	4.58375e-28	0.870114	1	0
RNF213	57674	broad.mit.edu	37	17	78350164	78350164	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:78350164C>T	ENST00000582970.1	+	52	13392	c.13249C>T	c.(13249-13251)Cgt>Tgt	p.R4417C	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4466C|RNF213_ENST00000336301.6_Missense_Mutation_p.R2490C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGATATCAGCCGTTTTGCAAC	0.453000													19	163					0	0	0.608945	0	0
ZNF142	7701	broad.mit.edu	37	2	219509212	219509212	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:219509212C>A	ENST00000411696.2	-	7	2806	c.2027G>T	c.(2026-2028)gGg>gTg	p.G676V	ZNF142_ENST00000449707.1_Missense_Mutation_p.G676V			P52746	ZN142_HUMAN	zinc finger protein 142	676					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAGGTCACCCCCATGGGGAGC	0.632000													23	32					6.32553e-13	9.55816e-13	0.681144	1	0
MGAM	8972	broad.mit.edu	37	7	141766483	141766483	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:141766483C>A	ENST00000475668.2	+	41	4935	c.4881C>A	c.(4879-4881)caC>caA	p.H1627Q	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1627	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAAAGGCCCACACGGAGGGCG	0.498000													41	152					1.83081e-24	3.24543e-24	0.870114	1	0
SARDH	1757	broad.mit.edu	37	9	136595228	136595228	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:136595228G>A	ENST00000371872.4	-	5	1029	c.772C>T	c.(772-774)Cag>Tag	p.Q258*	SARDH_ENST00000439388.1_Nonsense_Mutation_p.Q258*|SARDH_ENST00000422262.2_Nonsense_Mutation_p.Q90*|SARDH_ENST00000298628.5_Nonsense_Mutation_p.Q258*|SARDH_ENST00000371867.1_Nonsense_Mutation_p.Q169*	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	258					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GAACCATGCTGAGTCTCCACA	0.582000													20	34					0	0	0.608945	0	0
USH2A	7399	broad.mit.edu	37	1	215847863	215847863	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:215847863A>T	ENST00000366943.2	-	63	13776	c.13390T>A	c.(13390-13392)Tgg>Agg	p.W4464R	USH2A_ENST00000307340.3_Missense_Mutation_p.W4464R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4464	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W4464R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAGGTTTCCAGGTGATTTCT	0.453000										HNSCC(13;0.011)			36	105					0	0	0.819951	0	0
CNTN2	6900	broad.mit.edu	37	1	205030523	205030523	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:205030523C>A	ENST00000331830.4	+	8	1232	c.948C>A	c.(946-948)acC>acA	p.T316T		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	316	Ig-like C2-type 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCGAGACACCGTGCAGGGCC	0.642000											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	9					0.000566183	0.000621521	0.520397	1	0
OR51Q1	390061	broad.mit.edu	37	11	5443647	5443647	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:5443647C>A	ENST00000300778.4	+	1	307	c.217C>A	c.(217-219)Ctg>Atg	p.L73M	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L73M(2)|p.D72_L73>EM(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGACGGACCTGGGTCTCAC	0.532000													16	80					3.51602e-12	5.2134e-12	0.575678	1	0
NAT16	375607	broad.mit.edu	37	7	100817860	100817860	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:100817860G>T	ENST00000300303.2	-	2	467	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	NAT16_ENST00000443096.1_Missense_Mutation_p.L77M|NAT16_ENST00000455377.1_Missense_Mutation_p.L77M	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	77	N-acetyltransferase.						N-acetyltransferase activity										AGGTAGTCCAGGCCGCCGTAG	0.687000													16	40					5.3912e-06	6.44461e-06	0.539581	1	0
ADH7	131	broad.mit.edu	37	4	100349332	100349332	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:100349332C>A	ENST00000437033.2	-	4	763		c.e4-1		ADH7_ENST00000209665.4_Splice_Site|ADH7_ENST00000482593.1_Splice_Site|ADH7_ENST00000476959.1_Splice_Site			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide						ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	ACTTTGTCACCTACAGGAAAA	0.358000													20	33					8.81451e-21	1.50577e-20	0.575678	1	0
CHAT	1103	broad.mit.edu	37	10	50827924	50827924	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:50827924C>A	ENST00000395562.2	+	4	764	c.295C>A	c.(295-297)Cag>Aag	p.Q99K	CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000337653.2_Missense_Mutation_p.Q181K|CHAT_ENST00000395559.2_Missense_Mutation_p.Q63K|CHAT_ENST00000339797.1_Missense_Mutation_p.Q63K|CHAT_ENST00000455728.2_Missense_Mutation_p.Q63K|CHAT_ENST00000351556.3_Missense_Mutation_p.Q63K	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	181					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GACCCTGCAGCAGAAACTCCT	0.617000													4	11					1.23904e-05	1.44667e-05	0.184627	1	0
DLG5	9231	broad.mit.edu	37	10	79613233	79613233	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:79613233C>A	ENST00000372391.2	-	5	748	c.743G>T	c.(742-744)aGg>aTg	p.R248M	DLG5_ENST00000372388.2_Missense_Mutation_p.R248M	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	248					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATTCTCCCGCCTCAGCATGTC	0.617000													6	18					0.000274275	0.000303965	0.307466	1	0
SDK2	54549	broad.mit.edu	37	17	71389876	71389876	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:71389876C>A	ENST00000392650.3	-	27	3721	c.3721G>T	c.(3721-3723)Gag>Tag	p.E1241*	SDK2_ENST00000388726.3_Nonsense_Mutation_p.E1241*	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1241	Fibronectin type-III 7.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAGTCCTTCTCCTTATACATC	0.587000													18	22					4.26978e-12	6.3062e-12	0.654019	1	0
GPR133	283383	broad.mit.edu	37	12	131593298	131593298	+	Silent	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:131593298A>G	ENST00000261654.5	+	18	2476	c.1917A>G	c.(1915-1917)ctA>ctG	p.L639L	GPR133_ENST00000376682.4_Silent_p.L325L|GPR133_ENST00000535015.1_Silent_p.L671L|GPR133_ENST00000543617.1_Silent_p.L158L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	639					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCGTGCTCCTACACTACTTCT	0.587000													65	152					0	0	0.870114	0	0
MYH7	4625	broad.mit.edu	37	14	23894032	23894032	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:23894032C>G	ENST00000355349.3	-	22	2787	c.2625G>C	c.(2623-2625)gaG>gaC	p.E875D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	875					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACACCATCTTCTCCTCCAGCT	0.587000													14	28					0	0	0.500413	0	0
ZNF180	7733	broad.mit.edu	37	19	44980970	44980970	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:44980970C>A	ENST00000221327.4	-	5	2009	c.1728G>T	c.(1726-1728)ccG>ccT	p.P576P	ZNF180_ENST00000592529.1_Silent_p.P549P|ZNF180_ENST00000391956.4_Silent_p.P551P	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TACATTCATACGGTTTTTCCC	0.403000													49	70					2.48909e-17	4.08069e-17	0.870114	1	0
CD1C	911	broad.mit.edu	37	1	158262459	158262459	+	Silent	SNP	C	C	A	rs3138103	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:158262459C>A	ENST00000368170.3	+	4	963	c.684C>A	c.(682-684)tcC>tcA	p.S228S		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	228	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTCATGCCTCCGGCTTCTACC	0.532000													28	20					1.77063e-15	2.81394e-15	0.693898	1	0
NR1H4	9971	broad.mit.edu	37	12	100926248	100926248	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:100926248G>C	ENST00000548884.1	+	5	999	c.458G>C	c.(457-459)aGa>aCa	p.R153T	NR1H4_ENST00000392986.3_Missense_Mutation_p.R153T|NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000188403.7_Missense_Mutation_p.R163T|NR1H4_ENST00000551379.1_Missense_Mutation_p.R163T	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	163					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TTCTTCAGGAGAAGCATTACC	0.423000													6	37					0	0	0.278610	0	0
ADGRG6	57211	broad.mit.edu	37	6	142732545	142732545	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:142732545G>A	ENST00000230173.6	+	18	3014	c.2538G>A	c.(2536-2538)ctG>ctA	p.L846L	GPR126_ENST00000367609.3_Silent_p.L846L|GPR126_ENST00000296932.8_Silent_p.L818L|GPR126_ENST00000367608.2_Silent_p.L818L	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	846	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TTGGAGTTCTGATGGTAAGGG	0.403000													17	106					0	0	0.557998	0	0
PCDH17	27253	broad.mit.edu	37	13	58209020	58209020	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:58209020G>T	ENST00000377918.3	+	1	2366	c.2340G>T	c.(2338-2340)atG>atT	p.M780I		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	780					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGAACGCCATGAACGTCATGA	0.602000													11	26					2.68362e-12	3.9949e-12	0.411799	1	0
TOX4	9878	broad.mit.edu	37	14	21960676	21960676	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:21960676G>A	ENST00000405508.1	+	8	1177	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	TOX4_ENST00000448790.2_Missense_Mutation_p.E278K|TOX4_ENST00000262709.3_Missense_Mutation_p.E301K			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	301						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCCACTGTGGAAACAGTGGA	0.413000													39	113					0	0	0.870114	0	0
FBXO42	54455	broad.mit.edu	37	1	16578015	16578015	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:16578015C>T	ENST00000375592.3	-	10	1520	c.1304G>A	c.(1303-1305)gGc>gAc	p.G435D		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	435										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GATAGGAGAGCCGTCTCCTCT	0.577000													4	9					0	0	0.184627	0	0
EVI5L	115704	broad.mit.edu	37	19	7916418	7916418	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:7916418C>T	ENST00000270530.4	+	7	1048	c.852C>T	c.(850-852)ttC>ttT	p.F284F	EVI5L_ENST00000538904.2_Silent_p.F284F	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	284	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						TGACCACCTTCCCACTCCCCG	0.587000													9	75					0	0	0.435327	0	0
CCDC108	255101	broad.mit.edu	37	2	219888887	219888887	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:219888887C>G	ENST00000341552.5	-	15	2528	c.2445G>C	c.(2443-2445)caG>caC	p.Q815H	CCDC108_ENST00000453220.1_Missense_Mutation_p.Q815H|CCDC108_ENST00000441968.1_Missense_Mutation_p.Q815H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	815						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGAGCCTCTCTGGGGGGCCA	0.632000													9	51					0	0	0.307466	0	0
OR5K3	403277	broad.mit.edu	37	3	98110437	98110437	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:98110437C>T	ENST00000383695.1	+	1	928	c.928C>T	c.(928-930)Cac>Tac	p.H310Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						AAAATTTTGTCACATTCTGAA	0.269000													25	54					0	0	0.681144	0	0
TRPC5	7224	broad.mit.edu	37	X	111195569	111195569	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:111195569G>C	ENST00000262839.2	-	2	998	c.80C>G	c.(79-81)aCa>aGa	p.T27R		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	27					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGAGAGCTCTGTCTCAGCCCT	0.507000													11	15					0	0	0.411799	0	0
DKK2	27123	broad.mit.edu	37	4	107956673	107956673	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:107956673A>G	ENST00000285311.3	-	1	781	c.76T>C	c.(76-78)Tca>Cca	p.S26P	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	26					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCGATCTGTGAGCTCTCCACC	0.642000													13	111					0	0	0.479597	0	0
PCDH20	64881	broad.mit.edu	37	13	61985470	61985470	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:61985470C>T	ENST00000409186.1	-	5	4867	c.2762G>A	c.(2761-2763)aGg>aAg	p.R921K	PCDH20_ENST00000409204.4_Missense_Mutation_p.R921K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	894					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTCATCTTCCCTGGGATGCTT	0.403000													5	36					0	0	0.248553	0	0
ATP6AP1L	92270	broad.mit.edu	37	5	81608634	81608634	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:81608634G>T	ENST00000380167.4	+	9	1661	c.336G>T	c.(334-336)ggG>ggT	p.G112G	ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Silent_p.G112G			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	112					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CGGATGATGGGTCGAGCCTGT	0.532000											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	22					0.00074312	0.000810432	0.539581	1	0
KRT17	3872	broad.mit.edu	37	17	39780443	39780443	+	Missense_Mutation	SNP	C	C	T	rs150004075	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:39780443C>T	ENST00000311208.8	-	1	386	c.319G>A	c.(319-321)Gag>Aag	p.E107K	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	107	Coil 1A.|Peptide epitope S1; induces T-cell and keratinocyte proliferation and IFN-gamma production.|Rod.			Missing (in Ref. 5; AAH72018).	epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GTGTTGGCCTCCTCCAGGGCA	0.622000													33	242					0	0	0.804634	0	0
POR	5447	broad.mit.edu	37	7	75608896	75608896	+	Splice_Site	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:75608896T>A	ENST00000394893.1	+	4	385	c.366_splice	c.e4+1	p.L122_splice	POR_ENST00000461988.1_Splice_Site_p.L122_splice|POR_ENST00000419840.1_5'UTR|POR_ENST00000475509.1_3'UTR			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	119	Flavodoxin-like.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	GAGTATGACCTGGTAAGCTGC	0.667000													19	50					0	0	0.639603	0	0
GMEB2	26205	broad.mit.edu	37	20	62223416	62223416	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:62223416T>A	ENST00000266068.1	-	8	1389	c.911A>T	c.(910-912)cAg>cTg	p.Q304L	GMEB2_ENST00000370069.1_Missense_Mutation_p.Q253L|GMEB2_ENST00000370077.1_Missense_Mutation_p.Q304L			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	304					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GCGGTCCATCTGGCACTTGTG	0.622000													26	51					0	0	0.717897	0	0
XIRP2	129446	broad.mit.edu	37	2	168101740	168101740	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:168101740G>T	ENST00000409195.1	+	9	3927	c.3838G>T	c.(3838-3840)Gag>Tag	p.E1280*	XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E1280*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E1058*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1105					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTTTATTTTTGAGACTTTTTC	0.353000													4	93					1.23904e-05	1.44667e-05	0.184627	1	0
ACTN2	88	broad.mit.edu	37	1	236907948	236907948	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:236907948G>T	ENST00000366578.4	+	12	1444	c.1278G>T	c.(1276-1278)caG>caT	p.Q426H	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.Q426H|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	426					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCTTGCTGCAGAAGGATTACG	0.597000													18	14					6.33239e-15	9.917e-15	0.592651	1	0
F13A1	2162	broad.mit.edu	37	6	6266977	6266977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:6266977C>A	ENST00000264870.3	-	4	650	c.385G>T	c.(385-387)Gga>Tga	p.G129*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	129					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCCCACTTTCCACTTTGTAAC	0.488000													12	58					1.49906e-05	1.74755e-05	0.457914	1	0
CDH12	1010	broad.mit.edu	37	5	21751939	21751939	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:21751939G>T	ENST00000382254.1	-	15	3378	c.2292C>A	c.(2290-2292)gaC>gaA	p.D764E	CDH12_ENST00000522262.1_Missense_Mutation_p.D724E|CDH12_ENST00000504376.2_Missense_Mutation_p.D764E|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	764					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GATAGTCATAGTCCTGGTCGG	0.507000										HNSCC(59;0.17)			27	56					9.78485e-24	1.72438e-23	0.769981	1	0
RNF31	55072	broad.mit.edu	37	14	24619987	24619987	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:24619987G>T	ENST00000324103.6	+	8	1698	c.1378G>T	c.(1378-1380)Ggg>Tgg	p.G460W	RNF31_ENST00000382687.3_Missense_Mutation_p.G309W|RNF31_ENST00000559275.1_Missense_Mutation_p.G309W	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	460	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CCCCAAGCCTGGGCCCCCACG	0.612000													19	58					3.99206e-14	6.15579e-14	0.557998	1	0
COL11A1	1301	broad.mit.edu	37	1	103385898	103385898	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:103385898G>T	ENST00000358392.2	-	49	4084	c.3767C>A	c.(3766-3768)tCt>tAt	p.S1256Y	COL11A1_ENST00000512756.1_Missense_Mutation_p.S1128Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.S1205Y|COL11A1_ENST00000370096.3_Missense_Mutation_p.S1244Y	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1244	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGAACCAACAGACCCTGGGGG	0.363000													25	70					2.61193e-14	4.0442e-14	0.740014	1	0
SECISBP2L	9728	broad.mit.edu	37	15	49284862	49284862	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:49284862C>A	ENST00000559471.1	-	18	3148	c.2885G>T	c.(2884-2886)gGc>gTc	p.G962V	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.G917V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	962										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ATCCAAAGAGCCAGTCTCTGT	0.488000													9	57					1.58986e-06	1.95486e-06	0.361761	1	0
PSG11	5680	broad.mit.edu	37	19	43519523	43519523	+	Splice_Site	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:43519523C>T	ENST00000401740.1	-	4	813		c.e4-1		PSG11_ENST00000403486.1_Splice_Site|PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000306322.7_Splice_Site			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11						female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCTGGACCATCTGGAGGAAAG	0.502000													33	129					0	0	0.847076	0	0
OCM2	4951	broad.mit.edu	37	7	97619394	97619394	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:97619394C>A	ENST00000257627.4	-	1	114	c.23G>T	c.(22-24)aGt>aTt	p.S8I	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	8							calcium ion binding	p.S8I(1)		lung(4)	4						GTCATCAGCACTGAGCACGTC	0.552000													18	43					1.85244e-09	2.53909e-09	0.654019	1	0
IKBKB	3551	broad.mit.edu	37	8	42146232	42146232	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:42146232C>T	ENST00000520810.1	+	3	372	c.186C>T	c.(184-186)atC>atT	p.I62I	IKBKB_ENST00000519735.1_Silent_p.I62I|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.I60I|IKBKB_ENST00000416505.2_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	62	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GCCTGGAGATCCAGATCATGA	0.602000													6	11					0	0	0.248553	0	0
OR2H1	26716	broad.mit.edu	37	6	29430378	29430378	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:29430378G>T	ENST00000377136.1	+	4	1297	c.832G>T	c.(832-834)Gtg>Ttg	p.V278L	OR2H1_ENST00000377132.1_Missense_Mutation_p.V278L|OR2H1_ENST00000442615.1_Missense_Mutation_p.V278L|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Missense_Mutation_p.V278L|OR2H1_ENST00000377133.1_Missense_Mutation_p.V278L			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CTTCTATGCAGTGGGCACTCC	0.512000													13	32					2.31682e-05	2.68217e-05	0.479597	1	0
PRKCD	5580	broad.mit.edu	37	3	53217201	53217201	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:53217201G>T	ENST00000394729.2	+	7	964	c.636G>T	c.(634-636)gcG>gcT	p.A212A	PRKCD_ENST00000330452.3_Silent_p.A212A	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	212					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CTGGCACCGCGGCCAACAGCC	0.612000													10	27					4.68919e-08	6.13139e-08	0.361761	1	0
GRIK4	2900	broad.mit.edu	37	11	120852872	120852872	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:120852872T>A	ENST00000527524.2	+	20	2740	c.2453T>A	c.(2452-2454)gTg>gAg	p.V818E	GRIK4_ENST00000438375.2_Missense_Mutation_p.V818E			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	818					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGCTTAATCGTGGCCATTTTT	0.383000													31	75					0	0	0.779181	0	0
CYFIP1	23191	broad.mit.edu	37	15	22933576	22933576	+	Silent	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:22933576A>G	ENST00000313077.7	+	7	710	c.585A>G	c.(583-585)ttA>ttG	p.L195L	CYFIP1_ENST00000560848.1_Silent_p.L195L	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	195					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTCAGTTTTTACGTAAAATGG	0.403000													9	17					0	0	0.387290	0	0
SUPT16H	11198	broad.mit.edu	37	14	21852072	21852072	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:21852072C>T	ENST00000216297.2	-	1	353	c.15G>A	c.(13-15)ctG>ctA	p.L5L	SUPT16H_ENST00000555943.1_Silent_p.L5L	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	5					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CGTCTTTGTCCAGAGTCACAG	0.592000													20	44					0	0	0.654019	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946337	46946337	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:46946337G>A	ENST00000429979.1	-	3	878	c.274C>T	c.(274-276)Cct>Tct	p.P92S	KIAA0226L_ENST00000378797.2_Missense_Mutation_p.P92S|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.P92S|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.P92S|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.P92S|KIAA0226L_ENST00000534925.1_5'UTR|KIAA0226L_ENST00000480935.1_5'UTR|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.P25S	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	92	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AGGCACGAAGGTGAAGGGCCT	0.582000													15	50					0	0	0.557998	0	0
CNGA4	1262	broad.mit.edu	37	11	6261363	6261363	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:6261363G>T	ENST00000379936.2	+	4	454	c.339G>T	c.(337-339)tgG>tgT	p.W113C	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	113					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCGCACCTGGAGTTTCTTCT	0.617000													17	100					2.94398e-08	3.87298e-08	0.557998	1	0
GABRA4	2557	broad.mit.edu	37	4	46976356	46976356	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:46976356G>T	ENST00000264318.3	-	6	1596	c.614C>A	c.(613-615)aCa>aAa	p.T205K		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	205					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGACCTTTTGTCCAGGTATA	0.408000													9	36					0.000274275	0.000303965	0.307466	1	0
CFH	3075	broad.mit.edu	37	1	196706718	196706718	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:196706718G>A	ENST00000367429.4	+	17	2950	c.2710G>A	c.(2710-2712)Ggt>Agt	p.G904S		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	904	Sushi 15.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTGTGAGGGTGGTTTCAGGAT	0.393000													8	70					0	0	0.307466	0	0
OR10G8	219869	broad.mit.edu	37	11	123900510	123900510	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:123900510C>T	ENST00000431524.1	+	1	214	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTACTACTTCCTCACCAACCT	0.527000													18	112					0	0	0.575678	0	0
CCDC30	728621	broad.mit.edu	37	1	43111805	43111805	+	Splice_Site	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:43111805G>C	ENST00000428554.2	+	21	3033		c.e21-1		CCDC30_ENST00000340612.4_Splice_Site|CCDC30_ENST00000342022.4_Splice_Site|CCDC30_ENST00000390640.4_Splice_Site|CCDC30_ENST00000507855.1_Splice_Site			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TTTAAACTTAGAATCTTAAGG	0.358000													5	16					0	0	0.184627	0	0
MYH10	4628	broad.mit.edu	37	17	8448782	8448782	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:8448782C>T	ENST00000360416.3	-	13	1553	c.1415G>A	c.(1414-1416)gGa>gAa	p.G472E	MYH10_ENST00000396239.1_Missense_Mutation_p.G462E|MYH10_ENST00000379980.4_Missense_Mutation_p.G478E|MYH10_ENST00000269243.4_Missense_Mutation_p.G462E	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	462	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATTTCAAATCCAGCAATATC	0.433000													23	66					0	0	0.639603	0	0
ZNF280C	55609	broad.mit.edu	37	X	129354419	129354419	+	Silent	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:129354419T>G	ENST00000370978.4	-	13	1584	c.1431A>C	c.(1429-1431)ctA>ctC	p.L477L		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAAAAATTGTAGTCTGCATT	0.388000													13	23					0	0	0.435327	0	0
IGKV2-24	28923	broad.mit.edu	37	2	89475894	89475894	+	RNA	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:89475894C>G	ENST00000484817.1	-	0	307																											GAAATCTGTCCCTGCCCCACT	0.507000													37	106					0	0	0.840704	0	0
NABP1	64859	broad.mit.edu	37	2	192543851	192543851	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:192543851G>A	ENST00000425611.2	+	2	310	c.227G>A	c.(226-228)aGa>aAa	p.R76K	NABP1_ENST00000409510.1_5'UTR|NABP1_ENST00000410026.1_5'UTR					nucleic acid binding protein 1																		CGGTTGACCAGAGGGTAGGTG	0.527000													16	67					0	0	0.575678	0	0
PASK	23178	broad.mit.edu	37	2	242066662	242066662	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:242066662C>G	ENST00000403638.3	-	10	1759	c.1668G>C	c.(1666-1668)gaG>gaC	p.E556D	PASK_ENST00000539818.1_Missense_Mutation_p.E340D|PASK_ENST00000544142.1_Missense_Mutation_p.E370D|PASK_ENST00000234040.4_Missense_Mutation_p.E556D|PASK_ENST00000358649.4_Missense_Mutation_p.E556D|PASK_ENST00000405260.1_Missense_Mutation_p.E556D	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	556					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGCCCCCATCCTCAGCTGGGA	0.587000													22	173					0	0	0.639603	0	0
SLC17A9	63910	broad.mit.edu	37	20	61598070	61598070	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:61598070C>T	ENST00000370349.3	+	13	1319	c.1115C>T	c.(1114-1116)gCc>gTc	p.A372V	SLC17A9_ENST00000370351.4_Missense_Mutation_p.A378V|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	378					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCCAACACAGCCGGGGCCTTG	0.662000													28	65					0	0	0.760397	0	0
AOAH	313	broad.mit.edu	37	7	36552820	36552820	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:36552820C>A	ENST00000431169.1	-	22	2185	c.1885G>T	c.(1885-1887)Ggc>Tgc	p.G629C	AOAH_ENST00000258749.5_3'UTR|AOAH_ENST00000535891.1_3'UTR|AOAH_ENST00000538464.1_3'UTR	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAGCCTCTGCCTCCCTGTGCT	0.552000													21	49					2.70639e-06	3.27949e-06	0.624587	1	0
OR9A2	135924	broad.mit.edu	37	7	142724168	142724168	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:142724168C>A	ENST00000350513.2	-	1	114	c.52G>T	c.(52-54)Ggg>Tgg	p.G18W		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CCTTGGGACCCAGGGAAGCCT	0.413000													18	29					8.04996e-18	1.3328e-17	0.608945	1	0
GPATCH8	23131	broad.mit.edu	37	17	42475031	42475031	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:42475031C>G	ENST00000434000.1	-	9	4462	c.4180G>C	c.(4180-4182)Gct>Cct	p.A1394P	GPATCH8_ENST00000591680.1_Missense_Mutation_p.A1472P			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1472						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCTGCTGCAGCAGGCCGTGGA	0.602000													6	43					0	0	0.248553	0	0
MTSS1	9788	broad.mit.edu	37	8	125603473	125603473	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:125603473C>A	ENST00000518547.1	-	4	685	c.212G>T	c.(211-213)gGg>gTg	p.G71V	MTSS1_ENST00000378017.3_Missense_Mutation_p.G71V|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Missense_Mutation_p.G71V	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	71	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCCCTGGTCCCACCTGAAAA	0.483000													9	64					4.68919e-08	6.13139e-08	0.361761	1	0
MYO7A	4647	broad.mit.edu	37	11	76922953	76922953	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:76922953A>T	ENST00000409709.3	+	46	6597	c.6325A>T	c.(6325-6327)Acc>Tcc	p.T2109S	MYO7A_ENST00000458637.2_Missense_Mutation_p.T2071S|MYO7A_ENST00000409619.2_Missense_Mutation_p.T2060S|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2109	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAAGTGGCCCACCTTTGGCTC	0.562000													7	24					0	0	0.278610	0	0
OR51B5	282763	broad.mit.edu	37	11	5364143	5364143	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:5364143T>C	ENST00000300773.2	-	1	666	c.612A>G	c.(610-612)atA>atG	p.I204M	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGCACAAATATAAAGACTA	0.453000													35	52					0	0	0.788014	0	0
KRT16P6	353194	broad.mit.edu	37	17	16725441	16725441	+	RNA	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:16725441G>A	ENST00000417510.1	-	0	452																											CCAGGCTGTCGTTGAGGTTCT	0.617000													8	154					0	0	0.387290	0	0
ZBTB40	9923	broad.mit.edu	37	1	22850841	22850841	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:22850841C>T	ENST00000404138.1	+	18	3940	c.3429C>T	c.(3427-3429)ctC>ctT	p.L1143L	ZBTB40_ENST00000374651.4_Silent_p.L1031L|ZBTB40_ENST00000375647.4_Silent_p.L1143L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1143					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GTGGGGAACTCTTCACCTCCC	0.577000													11	31					0	0	0.411799	0	0
RHPN1	114822	broad.mit.edu	37	8	144464036	144464036	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:144464036G>T	ENST00000289013.6	+	14	1796	c.1695G>T	c.(1693-1695)tgG>tgT	p.W565C		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	590	PDZ.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CATGCAGGTGGTGGAGACACG	0.662000													24	29					3.90053e-15	6.13406e-15	0.760397	1	0
TRRAP	8295	broad.mit.edu	37	7	98591355	98591355	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:98591355G>A	ENST00000359863.4	+	65	10209	c.10000G>A	c.(10000-10002)Gaa>Aaa	p.E3334K	TRRAP_ENST00000355540.3_Missense_Mutation_p.E3305K|TRRAP_ENST00000446306.3_Missense_Mutation_p.E3323K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3334					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAATTGGCATGAAGAGGTATT	0.522000													11	26					0	0	0.435327	0	0
CLNK	116449	broad.mit.edu	37	4	10566322	10566322	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:10566322G>T	ENST00000226951.6	-	7	611	c.372C>A	c.(370-372)acC>acA	p.T124T	CLNK_ENST00000507719.1_Silent_p.T82T|CLNK_ENST00000442825.2_Silent_p.T82T	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	124					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GTGTGTTCCAGGTCGGCTGTC	0.463000													12	31					9.05144e-12	1.32643e-11	0.435327	1	0
FOXD4L5	653427	broad.mit.edu	37	9	70177786	70177786	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:70177786C>A	ENST00000377420.1	-	1	1029	c.198G>T	c.(196-198)ggG>ggT	p.G66G		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	66					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						GAAGCGCAACCCCGCCCCACC	0.672000													17	56					9.57634e-11	1.3571e-10	0.654019	1	0
GRID2	2895	broad.mit.edu	37	4	94006321	94006321	+	Silent	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:94006321T>C	ENST00000282020.4	+	3	678	c.420T>C	c.(418-420)gaT>gaC	p.D140D	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	140					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACAGGAATGATGACTACACTC	0.498000													16	97					0	0	0.479597	0	0
WDR49	151790	broad.mit.edu	37	3	167240272	167240272	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:167240272C>A	ENST00000308378.3	-	12	1854	c.1548_splice	c.e12-1	p.A517_splice	WDR49_ENST00000476376.1_Splice_Site_p.A342_splice|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	517										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CAGTGCTTTGCCTGAAAAAAA	0.303000													7	20					1.12685e-05	1.327e-05	0.307466	1	0
DCDC1	341019	broad.mit.edu	37	11	31086068	31086068	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:31086068C>T	ENST00000597505.1	-	18	2538	c.2539G>A	c.(2539-2541)Gta>Ata	p.V847I	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACCAGTGCTACTGTCAGCTCC	0.488000													36	69					0	0	0.840704	0	0
MS4A3	932	broad.mit.edu	37	11	59828659	59828659	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:59828659C>G	ENST00000278865.3	+	2	99	c.26C>G	c.(25-27)gCa>gGa	p.A9G	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Missense_Mutation_p.A9G|MS4A3_ENST00000534744.1_Missense_Mutation_p.A9G|MS4A3_ENST00000526199.1_3'UTR	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	9						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GTTGATAATGCAGAGCTGGGG	0.493000													19	28					0	0	0.608945	0	0
CSMD1	64478	broad.mit.edu	37	8	2944787	2944787	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:2944787G>T	ENST00000520002.1	-	50	7864	c.7309C>A	c.(7309-7311)Cac>Aac	p.H2437N	CSMD1_ENST00000542608.1_Missense_Mutation_p.H2436N|CSMD1_ENST00000537824.1_Missense_Mutation_p.H2436N|CSMD1_ENST00000602723.1_Missense_Mutation_p.H2437N|CSMD1_ENST00000400186.3_Missense_Mutation_p.H2437N|CSMD1_ENST00000602557.1_Missense_Mutation_p.H2437N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2437	Sushi 14.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCAGGGGGTGGGTCAAACTG	0.488000													19	61					1.87028e-06	2.2959e-06	0.608945	1	0
ALG13	79868	broad.mit.edu	37	X	110970074	110970074	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:110970074G>T	ENST00000394780.3	+	16	1779	c.1767G>T	c.(1765-1767)atG>atT	p.M589I	ALG13_ENST00000251943.4_Missense_Mutation_p.M485I	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	589					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						AGAAGAAGATGTTCAAGAAAA	0.443000													14	28					0.00498961	0.005233	0.520397	1	0
STK4	6789	broad.mit.edu	37	20	43681760	43681760	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:43681760A>C	ENST00000372801.1	+	11	1386	c.1339A>C	c.(1339-1341)Ata>Cta	p.I447L	STK4_ENST00000499879.2_Intron|STK4_ENST00000372806.3_Intron|STK4_ENST00000396731.4_Missense_Mutation_p.I447L			Q13043	STK4_HUMAN	serine/threonine kinase 4	0	SARAH.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TGGAAAAGACATATGTATCCA	0.378000													15	44					0	0	0.557998	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181664	128181664	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:128181664G>T	ENST00000469083.1	-	2	2982	c.425C>A	c.(424-426)cCg>cAg	p.P142Q	DNAJB8_ENST00000319153.3_Missense_Mutation_p.P142Q			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	142					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CATGAAGGCCGGAAATTCTCC	0.612000													6	17					2.7689e-08	3.64903e-08	0.248553	1	0
MMP16	4325	broad.mit.edu	37	8	89128842	89128842	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:89128842G>C	ENST00000286614.6	-	6	1258	c.977C>G	c.(976-978)cCt>cGt	p.P326R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	326					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGGAGGCCGAGGAGGTTTTGG	0.532000													85	83					0	0	0.870114	0	0
PDE2A	5138	broad.mit.edu	37	11	72290346	72290346	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:72290346G>T	ENST00000334456.5	-	27	2583	c.2338C>A	c.(2338-2340)Ctc>Atc	p.L780I	PDE2A_ENST00000418754.2_Missense_Mutation_p.L665I|PDE2A_ENST00000376450.3_Missense_Mutation_p.L524I|PDE2A_ENST00000540345.1_Missense_Mutation_p.L771I|PDE2A_ENST00000444035.2_Missense_Mutation_p.L771I|PDE2A_ENST00000544570.1_Missense_Mutation_p.L773I	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	780	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ATCTTCTGGAGGTCCTTGAAG	0.607000													16	80					3.51602e-12	5.2134e-12	0.575678	1	0
COL4A4	1286	broad.mit.edu	37	2	227886843	227886843	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:227886843T>A	ENST00000396625.3	-	44	4344	c.4137A>T	c.(4135-4137)ccA>ccT	p.P1379P	COL4A4_ENST00000329662.7_Silent_p.P1376P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1379	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CAGGAAGGCCTGGGATTCGGG	0.582000													43	160					0	0	0.870114	0	0
UBXN2A	165324	broad.mit.edu	37	2	24222692	24222692	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:24222692G>C	ENST00000309033.4	+	7	979	c.735G>C	c.(733-735)caG>caC	p.Q245H	UBXN2A_ENST00000404924.1_Missense_Mutation_p.Q245H|UBXN2A_ENST00000535786.1_Missense_Mutation_p.Q192H|UBXN2A_ENST00000446425.2_3'UTR	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	245	UBX.									endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						TCATCATTCAGAGACTCCAAA	0.418000													30	39					0	0	0.760397	0	0
ANKRD52	283373	broad.mit.edu	37	12	56642588	56642588	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:56642588A>T	ENST00000267116.7	-	16	1780	c.1659T>A	c.(1657-1659)gcT>gcA	p.A553A		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	553							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CATAGTGCACAGCTGTGTAGC	0.632000													9	18					0	0	0.457914	0	0
NAV2	89797	broad.mit.edu	37	11	20113751	20113751	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:20113751G>T	ENST00000396085.1	+	29	6022		c.e29-1		NAV2_ENST00000533917.1_Splice_Site|NAV2_ENST00000311043.8_Splice_Site|NAV2_ENST00000540292.1_Splice_Site|NAV2_ENST00000527559.2_Splice_Site|NAV2_ENST00000360655.4_Splice_Site|NAV2_ENST00000396087.3_Splice_Site|NAV2_ENST00000349880.4_Splice_Site	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2							nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACTCTTTGCAGAGTGAAATAG	0.488000													18	43					4.96729e-08	6.46134e-08	0.575678	1	0
OR10A4	283297	broad.mit.edu	37	11	6898039	6898039	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:6898039C>A	ENST00000379829.2	+	1	184	c.161C>A	c.(160-162)tCt>tAt	p.S54Y		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATAGCTGACTCTGCACTACAA	0.453000													26	103					8.4185e-14	1.28628e-13	0.760397	1	0
B3GALT2	8707	broad.mit.edu	37	1	193149690	193149690	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:193149690G>T	ENST00000367434.4	-	2	1758	c.1003C>A	c.(1003-1005)Cgc>Agc	p.R335S	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	335					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						TGCAAACGGCGGATACCTAAA	0.433000													18	12					2.39187e-15	3.77917e-15	0.575678	1	0
CTNND2	1501	broad.mit.edu	37	5	11199587	11199587	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:11199587C>G	ENST00000304623.8	-	11	2137	c.1948G>C	c.(1948-1950)Gac>Cac	p.D650H	CTNND2_ENST00000503622.1_Missense_Mutation_p.D313H|CTNND2_ENST00000359640.2_Missense_Mutation_p.D650H|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.D559H|CTNND2_ENST00000458100.2_Missense_Mutation_p.D217H	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	650					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.D650N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATCTCCAGGTCAGTCGTCTTG	0.428000													17	123					0	0	0.639603	0	0
DRGX	644168	broad.mit.edu	37	10	50574416	50574416	+	Silent	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:50574416C>G	ENST00000374139.2	-	6	547	c.537G>C	c.(535-537)ctG>ctC	p.L179L	DRGX_ENST00000434016.1_Silent_p.L184L			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	184					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						AGCAAGAGCACAGTGGGCCCC	0.587000													7	25					0	0	0.278610	0	0
EFEMP1	2202	broad.mit.edu	37	2	56104957	56104957	+	Silent	SNP	G	G	A	rs139930646		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:56104957G>A	ENST00000394555.2	-	6	1119	c.684C>T	c.(682-684)tgC>tgT	p.C228C	EFEMP1_ENST00000355426.3_Silent_p.C228C|EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000394554.1_Silent_p.C228C	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	228	EGF-like 3; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTGTATTCACGCATCTTTGGT	0.423000													55	132					0	0	0.870114	0	0
C8orf74	203076	broad.mit.edu	37	8	10555264	10555264	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:10555264C>A	ENST00000304519.5	+	3	426	c.397C>A	c.(397-399)Cag>Aag	p.Q133K	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	133										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GGGCCAGGACCAGCAGGTCGA	0.617000													63	178					4.3955e-51	8.40563e-51	0.870114	1	0
AIM1L	55057	broad.mit.edu	37	1	26664135	26664135	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:26664135C>A	ENST00000527815.1	-	8	965	c.916G>T	c.(916-918)Ggc>Tgc	p.G306C	AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000308182.5_Missense_Mutation_p.G135C	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	135							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CAGCTGCGGCCCTGAAAGCCT	0.627000													5	18					0.184627	0.18724	0.184627	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54894400	54894400	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:54894400G>T	ENST00000293373.6	+	3	376	c.297G>T	c.(295-297)atG>atT	p.M99I	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.M49I	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	99					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGGATGTCATGGAATTTCGGG	0.398000													16	81					8.00594e-06	9.51733e-06	0.557998	1	0
C8orf47	203111	broad.mit.edu	37	8	99102061	99102061	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:99102061C>A	ENST00000318528.3	+	2	1175	c.816C>A	c.(814-816)gaC>gaA	p.D272E	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	272	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			AAGTATTGGACAGAAGTCAGC	0.443000													8	47					5.18039e-06	6.20246e-06	0.278610	1	0
CEP112	201134	broad.mit.edu	37	17	63822349	63822349	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:63822349C>G	ENST00000317442.8	-	1	312	c.69G>C	c.(67-69)atG>atC	p.M23I	CEP112_ENST00000580482.1_Intron|CEP112_ENST00000537949.1_Intron|CEP112_ENST00000535342.2_Intron|CEP112_ENST00000541355.1_Intron|CEP112_ENST00000392769.2_Intron	NM_001037325.2	NP_001032402.1	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	754						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TCTCTTCTCTCATCTCTATCA	0.458000													122	145					0	0	0.870114	0	0
FAM149A	25854	broad.mit.edu	37	4	187084032	187084032	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:187084032A>C	ENST00000356371.5	+	9	1636	c.1636A>C	c.(1636-1638)Atg>Ctg	p.M546L	FAM149A_ENST00000389354.5_Missense_Mutation_p.M255L|FAM149A_ENST00000502970.1_Missense_Mutation_p.M255L|FAM149A_ENST00000227065.4_Missense_Mutation_p.M255L|FAM149A_ENST00000503432.1_Missense_Mutation_p.M255L|FAM149A_ENST00000514153.1_Missense_Mutation_p.M255L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	546										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TTATAGTGACATGAATGGTGT	0.383000													20	28					0	0	0.654019	0	0
COL14A1	7373	broad.mit.edu	37	8	121224795	121224795	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:121224795G>A	ENST00000297848.3	+	13	1846	c.1576G>A	c.(1576-1578)Gtt>Att	p.V526I	COL14A1_ENST00000309791.4_Missense_Mutation_p.V526I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.V526I|COL14A1_ENST00000247781.3_Missense_Mutation_p.V431I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	526	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGTGATCCTGTTACGGGACA	0.453000													19	86					0	0	0.693898	0	0
DAPK1	1612	broad.mit.edu	37	9	90255720	90255720	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:90255720G>C	ENST00000469640.2	+	9	1161	c.786G>C	c.(784-786)aaG>aaC	p.K262N	DAPK1_ENST00000408954.3_Missense_Mutation_p.K262N|DAPK1_ENST00000358077.5_Missense_Mutation_p.K262N|DAPK1_ENST00000491893.1_Missense_Mutation_p.K262N|DAPK1_ENST00000472284.1_Missense_Mutation_p.K262N			P53355	DAPK1_HUMAN	death-associated protein kinase 1	262	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCTCAAGGAAGAGAATGACAA	0.443000									Chronic Lymphocytic Leukemia, Familial Clustering of				45	76					0	0	0.870114	0	0
FKBP10	60681	broad.mit.edu	37	17	39975577	39975577	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:39975577C>T	ENST00000321562.4	+	5	947	c.843C>T	c.(841-843)cgC>cgT	p.R281R	FKBP10_ENST00000544340.1_5'UTR	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	281					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GCTGTGTCCGCAGAGCCGGGG	0.632000													32	79					0	0	0.788014	0	0
TFCP2	7024	broad.mit.edu	37	12	51492610	51492610	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:51492610G>T	ENST00000307660.4	-	12	1935	c.1215C>A	c.(1213-1215)agC>agA	p.S405R	TFCP2_ENST00000257915.5_Missense_Mutation_p.S456R|TFCP2_ENST00000549867.1_Missense_Mutation_p.S378R|TFCP2_ENST00000548115.1_Missense_Mutation_p.S405R	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	456	Gln-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TGTAAATCTGGCTGATCTGGC	0.393000													7	32					8.12818e-05	9.2046e-05	0.248553	1	0
EIF3C	8663	broad.mit.edu	37	16	28734788	28734788	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:28734788C>G	ENST00000331666.6	+	10	1142	c.956C>G	c.(955-957)gCc>gGc	p.A319G	EIF3C_ENST00000566866.1_Missense_Mutation_p.A319G|EIF3C_ENST00000564243.1_Missense_Mutation_p.A309G|EIF3C_ENST00000566501.1_Missense_Mutation_p.A319G|EIF3C_ENST00000395587.1_Missense_Mutation_p.A319G			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	319						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						AAAATGTTTGCCAAGGGAACT	0.493000													55	188					0	0	0.870114	0	0
FERMT3	83706	broad.mit.edu	37	11	63988070	63988070	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:63988070G>T	ENST00000279227.5	+	12	1581	c.1486G>T	c.(1486-1488)Gcc>Tcc	p.A496S	FERMT3_ENST00000345728.5_Missense_Mutation_p.A492S	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	496	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGGCCCTGATGCCTCTGCCGA	0.672000													6	5					0.00198382	0.00212502	0.248553	1	0
PBRM1	55193	broad.mit.edu	37	3	52623229	52623229	+	Nonsense_Mutation	SNP	G	G	C	rs141067977	by1000genomes	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:52623229G>C	ENST00000356770.4	-	17	2728	c.2726C>G	c.(2725-2727)tCa>tGa	p.S909*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S956*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S956*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S941*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.S941*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S941*			Q86U86	PB1_HUMAN	polybromo 1	941					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTAAGCCTGAGAGGCCTGC	0.428000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								31	42					0	0	0.788014	0	0
HTR1E	3354	broad.mit.edu	37	6	87725103	87725103	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:87725103G>A	ENST00000305344.4	+	2	754	c.51G>A	c.(49-51)aaG>aaA	p.K17K	HTR1E_ENST00000369584.1_Silent_p.K17K	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	17					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TAAGACCCAAGACCATCACTG	0.478000													12	35					0	0	0.435327	0	0
SIRPB2	284759	broad.mit.edu	37	20	1457984	1457984	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:1457984T>A	ENST00000381630.1	-	4	589	c.566A>T	c.(565-567)cAg>cTg	p.Q189L	SIRPB2_ENST00000444444.1_Splice_Site_p.T188_splice|SIRPB2_ENST00000359801.3_Splice_Site_p.T286_splice|SIRPB2_ENST00000537284.1_Silent_p.T148T			Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	0	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TACGCTCACCTGTTGGAGACA	0.537000													45	59					0	0	0.870114	0	0
TTC17	55761	broad.mit.edu	37	11	43423014	43423014	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:43423014G>T	ENST00000039989.4	+	10	1252	c.1238G>T	c.(1237-1239)cGa>cTa	p.R413L	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R413L	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	413							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAGATATGCCGACTGGTCAAC	0.398000													5	22					6.5536e-12	9.66977e-12	0.278610	1	0
BPTF	2186	broad.mit.edu	37	17	65871746	65871746	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:65871746G>A	ENST00000321892.4	+	5	2000	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	BPTF_ENST00000335221.5_Missense_Mutation_p.E647K|BPTF_ENST00000306378.6_Intron|BPTF_ENST00000424123.3_Missense_Mutation_p.E508K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	647	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGCAACTTCAGAAGAGACTAG	0.493000													16	43					0	0	0.520397	0	0
ATRNL1	26033	broad.mit.edu	37	10	117061393	117061393	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:117061393C>T	ENST00000355044.3	+	17	2784	c.2658C>T	c.(2656-2658)tgC>tgT	p.C886C	ATRNL1_ENST00000423111.2_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	886						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CGAGGCCGTGCAAAAAGCCAT	0.378000													15	26					0	0	0.539581	0	0
C11orf30	56946	broad.mit.edu	37	11	76248853	76248853	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:76248853G>A	ENST00000529032.1	+	15	2374	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	C11orf30_ENST00000525919.1_Missense_Mutation_p.E793K|C11orf30_ENST00000533248.1_Intron|C11orf30_ENST00000334736.3_Missense_Mutation_p.E792K|C11orf30_ENST00000524490.1_Missense_Mutation_p.E708K|C11orf30_ENST00000525038.1_Missense_Mutation_p.E807K|C11orf30_ENST00000524767.1_Missense_Mutation_p.E807K|C11orf30_ENST00000343878.3_Missense_Mutation_p.E792K			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	792					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GGAAAAATTGGAATCTAAACC	0.393000													6	29					0	0	0.278610	0	0
PRKDC	5591	broad.mit.edu	37	8	48689479	48689479	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:48689479T>A	ENST00000314191.2	-	86	12161	c.12105A>T	c.(12103-12105)aaA>aaT	p.K4035N	PRKDC_ENST00000338368.3_Missense_Mutation_p.K4004N|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	4036					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGTACCAATTTTTTTCAGCAA	0.358000								Non-homologous end-joining					15	18					0	0	0.520397	0	0
GABRA5	2558	broad.mit.edu	37	15	27185199	27185199	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:27185199A>T	ENST00000335625.5	+	9	1740	c.852A>T	c.(850-852)gaA>gaT	p.E284D	GABRA5_ENST00000355395.5_Missense_Mutation_p.E284D|GABRA5_ENST00000400081.3_Missense_Mutation_p.E284D	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	284					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAACCGGGAATCAGTCCCAG	0.512000													6	16					0	0	0.248553	0	0
CFHR4	10877	broad.mit.edu	37	1	196879573	196879573	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:196879573C>T	ENST00000367416.2	+	6	1096	c.959C>T	c.(958-960)aCa>aTa	p.T320I	CFHR4_ENST00000367418.1_Missense_Mutation_p.T74I|CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ATTCACTGCACACAAGATGGG	0.413000													48	87					0	0	0.870114	0	0
MPO	4353	broad.mit.edu	37	17	56355235	56355235	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:56355235G>C	ENST00000340482.3	-	6	1429	c.1253C>G	c.(1252-1254)cCc>cGc	p.P418R	MPO_ENST00000225275.3_Missense_Mutation_p.P386R|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	386					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GAGGAGACAGGGGTCATCGTG	0.632000													38	56					0	0	0.864702	0	0
ACSM2A	123876	broad.mit.edu	37	16	20477017	20477017	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:20477017G>T	ENST00000573854.1	+	3	470	c.356G>T	c.(355-357)tGg>tTg	p.W119L	ACSM2A_ENST00000575690.1_Missense_Mutation_p.W119L|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.W119L|ACSM2A_ENST00000396104.2_Missense_Mutation_p.W119L|ACSM2A_ENST00000219054.6_Missense_Mutation_p.W119L|ACSM2A_ENST00000417235.2_Missense_Mutation_p.W40L|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	119					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTGCCTGAGTGGTGGCTGGTG	0.572000													10	33					1.36491e-13	2.07914e-13	0.435327	1	0
IGHV3-49	28423	broad.mit.edu	37	14	107012965	107012965	+	RNA	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:107012965C>A	ENST00000390625.2	-	0	409																											CGGCTGTGTCCTCGGTTTTCA	0.532000													43	121					4.17328e-34	7.69705e-34	0.870114	1	0
MED12	9968	broad.mit.edu	37	X	70343028	70343028	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:70343028G>T	ENST00000333646.6	+	11	1768	c.1569G>T	c.(1567-1569)atG>atT	p.M523I	MED12_ENST00000374080.3_Missense_Mutation_p.M523I|MED12_ENST00000374102.1_Missense_Mutation_p.M523I	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	523					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATCGTGCTATGGTGGTAGCCA	0.502000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						24	13					3.28513e-13	4.98902e-13	0.667858	1	0
ZNF30	90075	broad.mit.edu	37	19	35434349	35434349	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:35434349G>T	ENST00000439785.1	+	5	926	c.482G>T	c.(481-483)gGa>gTa	p.G161V	ZNF30_ENST00000601142.1_Missense_Mutation_p.G160V|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.G79V|ZNF30_ENST00000303586.7_Missense_Mutation_p.G161V	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TTTAGTAATGGACATCAACTC	0.383000													20	20					8.10497e-08	1.04614e-07	0.592651	1	0
TEP1	7011	broad.mit.edu	37	14	20872851	20872851	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:20872851C>T	ENST00000262715.5	-	5	991	c.951G>A	c.(949-951)gcG>gcA	p.A317A	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	317	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGGGCGACACGCCGGCAAGA	0.552000													25	48					0	0	0.706142	0	0
SMCR8	140775	broad.mit.edu	37	17	18220322	18220322	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:18220322C>T	ENST00000406438.3	+	1	1699	c.1219C>T	c.(1219-1221)Cca>Tca	p.P407S		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	407										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGAAGAATGCCCAATTCCTAA	0.468000													13	37					0	0	0.457914	0	0
PTPN14	5784	broad.mit.edu	37	1	214557590	214557590	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:214557590C>A	ENST00000366956.5	-	13	1802	c.1608G>T	c.(1606-1608)acG>acT	p.T536T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	536					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGGTGCTCACCGTGTGCGAGA	0.572000													24	144					7.33532e-06	8.727e-06	0.667858	1	0
OR9A4	130075	broad.mit.edu	37	7	141619410	141619410	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:141619410C>A	ENST00000548136.1	+	1	794	c.735C>A	c.(733-735)ttC>ttA	p.F245L	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCTCCCACTTCACCTGTGTTG	0.502000													14	41					0.000308642	0.000340797	0.479597	1	0
AVL9	23080	broad.mit.edu	37	7	32598191	32598191	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:32598191A>T	ENST00000318709.4	+	9	851	c.630A>T	c.(628-630)ccA>ccT	p.P210P	AVL9_ENST00000409301.1_Silent_p.P210P|AVL9_ENST00000404479.1_Silent_p.P210P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	210						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ATATTTCTCCAGTGAATAAAT	0.348000													9	32					0	0	0.361761	0	0
RNF168	165918	broad.mit.edu	37	3	196229811	196229811	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:196229811C>A	ENST00000318037.3	-	1	828	c.234G>T	c.(232-234)acG>acT	p.T78T		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	78					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TTTGAATTATCGTCCACAGTT	0.502000													22	23					2.98393e-07	3.75801e-07	0.639603	1	0
TAS2R7	50837	broad.mit.edu	37	12	10955157	10955157	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:10955157C>A	ENST00000240687.2	-	1	69	c.13G>T	c.(13-15)Gtg>Ttg	p.V5L		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	5					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GTAGTCTGCACTTTATCTGCC	0.383000													13	140					0.00185496	0.00200123	0.435327	1	0
TANC1	85461	broad.mit.edu	37	2	160035567	160035567	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:160035567C>T	ENST00000263635.6	+	14	2640	c.2403C>T	c.(2401-2403)ttC>ttT	p.F801F	TANC1_ENST00000454300.1_Silent_p.F695F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	801						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCTCCTGCTTCCTCATTAAGA	0.557000													33	92					0	0	0.769981	0	0
STAM2	10254	broad.mit.edu	37	2	152989690	152989690	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:152989690C>T	ENST00000263904.4	-	10	1316	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	323					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TAAGTACCTTCTAAATCCAAA	0.333000													9	61					0	0	0.361761	0	0
PDCL2	132954	broad.mit.edu	37	4	56428761	56428761	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:56428761C>G	ENST00000295645.4	-	5	483	c.381G>C	c.(379-381)ttG>ttC	p.L127F		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	127										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			GCTGGTTAACCAACAAACACA	0.343000													3	13					0	0	0.184627	0	0
ITGBL1	9358	broad.mit.edu	37	13	102235682	102235682	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:102235682C>A	ENST00000376180.3	+	6	1063	c.844C>A	c.(844-846)Cga>Aga	p.R282R	ITGBL1_ENST00000376162.3_Silent_p.R189R|ITGBL1_ENST00000545560.2_Silent_p.R141R	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	282	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTCTATGACCGATATTCTGA	0.458000													35	125					1.04594e-18	1.74323e-18	0.819951	1	0
PARL	55486	broad.mit.edu	37	3	183602624	183602624	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:183602624C>T	ENST00000317096.4	-	1	71	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	PARL_ENST00000311101.5_Missense_Mutation_p.R4Q|PARL_ENST00000435888.1_Missense_Mutation_p.R4Q	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	4					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CGCCCAGCCTCGCCACGCCAT	0.697000											OREG0015941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	18					0	0	0.387290	0	0
SLC9C1	285335	broad.mit.edu	37	3	111981885	111981885	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:111981885C>A	ENST00000305815.5	-	10	1335	c.1083G>T	c.(1081-1083)tgG>tgT	p.W361C	SLC9C1_ENST00000487372.1_Missense_Mutation_p.W313C	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	361					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATATCCAGCGCCAACTGAACT	0.368000													15	50					2.35188e-11	3.39365e-11	0.539581	1	0
IGHV4-39	28394	broad.mit.edu	37	14	106877814	106877814	+	RNA	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:106877814G>A	ENST00000390619.2	-	0	229																											AGCCCCAGTAGTAACTACTAC	0.592000													16	35					0	0	0.539581	0	0
C16orf90	646174	broad.mit.edu	37	16	3544669	3544669	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:3544669G>T	ENST00000437192.3	-	2	257	c.255C>A	c.(253-255)ggC>ggA	p.G85G	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	75										large_intestine(1)	1						CCATAAGCCGGCCCAGCCAGT	0.692000													6	13					0.00307968	0.00326403	0.278610	1	0
MUC4	4585	broad.mit.edu	37	3	195516489	195516489	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:195516489G>A	ENST00000463781.3	-	2	2421	c.1962C>T	c.(1960-1962)tcC>tcT	p.S654S	MUC4_ENST00000475231.1_Silent_p.S654S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	659					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGGGGAGACGGACCTCGTGG	0.557000													27	78					0	0	0.729181	0	0
VWCE	220001	broad.mit.edu	37	11	61026293	61026293	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:61026293G>A	ENST00000335613.5	-	20	3108	c.2722C>T	c.(2722-2724)Ccc>Tcc	p.P908S	VWCE_ENST00000535710.1_Missense_Mutation_p.P373S	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	908						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTCTTCGAGGGGCTGGGGTCC	0.647000													18	35					0	0	0.592651	0	0
TCF4	6925	broad.mit.edu	37	18	52896169	52896169	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:52896169C>A	ENST00000354452.3	-	18	2399	c.1788G>T	c.(1786-1788)caG>caT	p.Q596H	TCF4_ENST00000457482.3_Missense_Mutation_p.Q436H|TCF4_ENST00000570177.2_Missense_Mutation_p.Q462H|TCF4_ENST00000568673.1_Missense_Mutation_p.Q572H|TCF4_ENST00000398339.1_Missense_Mutation_p.Q698H|TCF4_ENST00000561831.3_Missense_Mutation_p.Q432H|TCF4_ENST00000565018.2_Missense_Mutation_p.Q596H|TCF4_ENST00000567880.1_Missense_Mutation_p.Q532H|TCF4_ENST00000561992.1_Missense_Mutation_p.Q462H|TCF4_ENST00000356073.4_Missense_Mutation_p.Q592H|TCF4_ENST00000537856.3_Missense_Mutation_p.Q462H|TCF4_ENST00000566286.1_Missense_Mutation_p.Q589H|TCF4_ENST00000564999.1_Missense_Mutation_p.Q592H|TCF4_ENST00000540999.1_Missense_Mutation_p.Q568H|TCF4_ENST00000564403.2_Missense_Mutation_p.Q602H|TCF4_ENST00000566279.1_Missense_Mutation_p.Q536H|TCF4_ENST00000537578.1_Missense_Mutation_p.Q572H|TCF4_ENST00000568740.1_Missense_Mutation_p.Q567H|TCF4_ENST00000570287.2_Missense_Mutation_p.Q432H|TCF4_ENST00000543082.1_Missense_Mutation_p.Q550H|TCF4_ENST00000544241.2_Missense_Mutation_p.Q525H|TCF4_ENST00000564228.1_Missense_Mutation_p.Q521H	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	592	Helix-loop-helix motif.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TGAGGTGGAGCTGCACCATGC	0.612000													23	27					4.7796e-09	6.42833e-09	0.681144	1	0
ZNF595	152687	broad.mit.edu	37	4	59449	59449	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:59449G>T	ENST00000509152.2	+	2	315	c.130_splice	c.e2+1	p.G44_splice	ZNF595_ENST00000526473.2_Splice_Site_p.G44_splice|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GGTCTCCCTGGGTGAGGATAA	0.413000													9	212					0.000978159	0.00106291	0.387290	1	0
NRXN1	9378	broad.mit.edu	37	2	50850559	50850559	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:50850559C>A	ENST00000404971.1	-	7	2465	c.1126G>T	c.(1126-1128)Gtc>Ttc	p.V376F	NRXN1_ENST00000401669.2_Missense_Mutation_p.V343F|NRXN1_ENST00000405472.3_Missense_Mutation_p.V343F|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.V343F|NRXN1_ENST00000406316.2_Missense_Mutation_p.V343F|NRXN1_ENST00000402717.3_Missense_Mutation_p.V343F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	343	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAATTAATGACCAGAGAGACA	0.438000													37	75					3.09479e-21	5.31089e-21	0.827153	1	0
LMAN1L	79748	broad.mit.edu	37	15	75114169	75114169	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:75114169G>T	ENST00000309664.5	+	10	1198		c.e10-1		RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Splice_Site	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like							ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTATCCCCAGGCCCTGGATG	0.572000													11	60					6.40141e-05	7.28203e-05	0.387290	1	0
PRDX6	9588	broad.mit.edu	37	1	173455480	173455480	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:173455480G>T	ENST00000340385.5	+	4	618	c.486G>T	c.(484-486)agG>agT	p.R162S	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	162	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						AGATTCTCAGGGTAGTCATCT	0.443000													90	75					2.2063e-47	4.17671e-47	0.870114	1	0
MMP11	4320	broad.mit.edu	37	22	24124584	24124584	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:24124584G>A	ENST00000215743.3	+	7	1299	c.1247G>A	c.(1246-1248)cGg>cAg	p.R416Q	AP000349.1_ENST00000598975.1_Silent_p.A210A	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	416	Hemopexin-like 3.				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				CCCAGCACCCGGCGTGTAGAC	0.632000													7	31					0	0	0.248553	0	0
CCBE1	147372	broad.mit.edu	37	18	57106909	57106909	+	Splice_Site	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:57106909C>T	ENST00000439986.4	-	8	952	c.915_splice	c.e8+1	p.V305_splice	CCBE1_ENST00000398179.2_Intron	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	305	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AGATACTGACCACAGGGCCCC	0.542000													20	60					0	0	0.624587	0	0
PELP1	27043	broad.mit.edu	37	17	4576947	4576947	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:4576947C>A	ENST00000301396.4	-	14	2262	c.2037G>T	c.(2035-2037)atG>atT	p.M679I	PELP1_ENST00000436683.2_Missense_Mutation_p.M388I|PELP1_ENST00000269230.7_Intron|PELP1_ENST00000574876.1_Missense_Mutation_p.M535I|PELP1_ENST00000572293.1_Missense_Mutation_p.M585I			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	535	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GAGGCCCACACATGAGGATGG	0.577000													47	28					2.53126e-37	4.72063e-37	0.870114	1	0
SACS	26278	broad.mit.edu	37	13	23914776	23914776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:23914776G>T	ENST00000382298.3	-	10	3827	c.3239C>A	c.(3238-3240)tCa>tAa	p.S1080*	SACS_ENST00000402364.1_Nonsense_Mutation_p.S330*|SACS_ENST00000382292.3_Nonsense_Mutation_p.S1080*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1080					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATATCTGGTGAGGTAAAAAC	0.378000													29	93					2.65835e-16	4.28352e-16	0.717897	1	0
AKAP12	9590	broad.mit.edu	37	6	151672116	151672116	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:151672116C>A	ENST00000402676.2	+	4	2830	c.2590C>A	c.(2590-2592)Caa>Aaa	p.Q864K	AKAP12_ENST00000354675.6_Missense_Mutation_p.Q766K|AKAP12_ENST00000253332.1_Missense_Mutation_p.Q864K|AKAP12_ENST00000359755.5_Missense_Mutation_p.Q759K	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	864					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGAGGCACAGCAAGCCCAAAA	0.577000													12	64					0.00136819	0.0014782	0.411799	1	0
RNF175	285533	broad.mit.edu	37	4	154644586	154644586	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:154644586C>G	ENST00000274068.4	-	4	418	c.42G>C	c.(40-42)ttG>ttC	p.L14F	RNF175_ENST00000347063.4_Missense_Mutation_p.L142F|RP11-153M7.5_ENST00000505051.1_RNA|RNF175_ENST00000506505.1_5'UTR			Q8N4F7	RN175_HUMAN	ring finger protein 175	142						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GTTTGTAGATCAAAAGAAACC	0.358000													8	10					0	0	0.335167	0	0
DGKI	9162	broad.mit.edu	37	7	137150701	137150701	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:137150701C>T	ENST00000453654.1	-	27	2258	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	DGKI_ENST00000288490.5_Silent_p.A863A|DGKI_ENST00000446122.1_Silent_p.A845A|DGKI_ENST00000424189.2_Silent_p.A876A			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	863					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GAGGTGTCCCCGCCGGCTGTG	0.532000													13	45					0	0	0.457914	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654756	161654756	+	RNA	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:161654756G>T	ENST00000426558.1	-	0	286					NR_002595.1																						CACGGATTCGGTATGGGACAT	0.453000													14	10					1.67942e-08	2.22885e-08	0.539581	1	0
PTPRG	5793	broad.mit.edu	37	3	61989074	61989074	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:61989074G>T	ENST00000474889.1	+	4	799	c.422G>T	c.(421-423)gGc>gTc	p.G141V	PTPRG_ENST00000295874.10_Missense_Mutation_p.G141V	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	141	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGTCTACCTGGCAGATTCAAA	0.483000													18	43					1.01871e-10	1.43959e-10	0.575678	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128797435	128797435	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:128797435C>A	ENST00000274487.4	+	2	859	c.714C>A	c.(712-714)acC>acA	p.T238T		NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	238					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T238T(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTTTCAGCACCTGTGGAGGTG	0.622000													18	31					2.39187e-15	3.77917e-15	0.575678	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107459530	107459530	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:107459530C>A	ENST00000409382.3	-	2	1514	c.904G>T	c.(904-906)Gca>Tca	p.A302S	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.A302S|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.A302S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	302					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ATTGCGCCTGCAGACATGACG	0.697000													3	5					0.00024832	0.000277447	0.150653	1	0
DZIP3	9666	broad.mit.edu	37	3	108394644	108394644	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:108394644C>G	ENST00000361582.3	+	25	2935	c.2705C>G	c.(2704-2706)tCa>tGa	p.S902*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.S902*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	902					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AACCTAGAATCACTTCAATTA	0.378000													8	23					0	0	0.307466	0	0
NEB	4703	broad.mit.edu	37	2	152420221	152420221	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:152420221C>G	ENST00000397345.3	-	119	18794	c.18592G>C	c.(18592-18594)Gag>Cag	p.E6198Q	NEB_ENST00000603639.1_Missense_Mutation_p.E6198Q|NEB_ENST00000172853.10_Missense_Mutation_p.E4497Q|NEB_ENST00000427231.2_Missense_Mutation_p.E6198Q|NEB_ENST00000604864.1_Missense_Mutation_p.E6198Q|NEB_ENST00000409198.1_Missense_Mutation_p.E4497Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6187					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCATATGTCTCTTTGTATTTA	0.448000													65	155					0	0	0.870114	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18446839	18446839	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:18446839T>A	ENST00000433979.1	+	5	1040	c.924T>A	c.(922-924)aaT>aaA	p.N308K	PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.N308K|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.N308K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.N308K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	308					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTTTAGCTAATTATCTTGTCA	0.313000													7	8					0	0	0.278610	0	0
NAT10	55226	broad.mit.edu	37	11	34129826	34129826	+	Silent	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:34129826A>G	ENST00000257829.3	+	2	260	c.54A>G	c.(52-54)gtA>gtG	p.V18V	NAT10_ENST00000531159.2_Intron|NAT10_ENST00000527971.1_Silent_p.V18V	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	18						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AGAATGGAGTAGCTGAGCGGC	0.408000													35	87					0	0	0.804634	0	0
TMEM63C	57156	broad.mit.edu	37	14	77710724	77710724	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:77710724G>T	ENST00000298351.4	+	16	1518	c.1374G>T	c.(1372-1374)gtG>gtT	p.V458V		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	458						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCCCCTCTGTGATGCTCTGGG	0.587000													61	123					1.15098e-32	2.11504e-32	0.870114	1	0
BMP1	649	broad.mit.edu	37	8	22035417	22035417	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:22035417G>T	ENST00000306385.5	+	6	1453	c.783G>T	c.(781-783)ggG>ggT	p.G261G	BMP1_ENST00000306349.8_Silent_p.G261G|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Silent_p.G261G|BMP1_ENST00000397816.3_Silent_p.G261G	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	261	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGTCCCTGGGGGAGACCTATG	0.607000													30	133					2.09667e-21	3.61039e-21	0.788014	1	0
CD300LD	100131439	broad.mit.edu	37	17	72578359	72578359	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:72578359G>T	ENST00000375352.1	-	3	551	c.471C>A	c.(469-471)acC>acA	p.T157T		NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	157						integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						CCACCTACCTGGTGAGGGGGC	0.562000													14	47					1.15088e-07	1.46786e-07	0.500413	1	0
DNAH8	1769	broad.mit.edu	37	6	38942254	38942254	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:38942254C>A	ENST00000359357.3	+	83	12386	c.12132C>A	c.(12130-12132)ccC>ccA	p.P4044P	DNAH8_ENST00000441566.1_Silent_p.P4008P					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTAATTTACCCATGTGGAAGC	0.443000													21	42					4.72057e-08	6.16707e-08	0.667858	1	0
SYTL5	94122	broad.mit.edu	37	X	37965997	37965997	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:37965997G>T	ENST00000357972.5	+	11	1853	c.1307G>T	c.(1306-1308)gGa>gTa	p.G436V	SYTL5_ENST00000456733.2_Missense_Mutation_p.G458V|SYTL5_ENST00000297875.2_Missense_Mutation_p.G436V|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	436	C2 1.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CTGGCCATAGGAGATGAAAAG	0.408000													8	15					5.18039e-06	6.20246e-06	0.278610	1	0
LPPR4	9890	broad.mit.edu	37	1	99771548	99771548	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:99771548T>C	ENST00000370185.3	+	7	1771	c.1274T>C	c.(1273-1275)gTa>gCa	p.V425A	LPPR4_ENST00000370184.1_Missense_Mutation_p.V267A|LPPR4_ENST00000457765.1_Missense_Mutation_p.V367A	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		425							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ACCCCATCTGTAGAAGACCCT	0.493000													5	19					0	0	0.217242	0	0
MT-ND5	4540	broad.mit.edu	37	MT	12772	12772	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrM:12772G>A	ENST00000361567.2	+	1	436	c.436G>A	c.(436-438)Ggc>Agc	p.G146S				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	146			G -> D.		mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	TCGGCTGAGAGGGCGTAGGAA	0.423000													7	79					0	0	0.307466	0	0
TAS1R1	80835	broad.mit.edu	37	1	6631250	6631250	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:6631250T>A	ENST00000333172.6	+	2	666	c.473T>A	c.(472-474)cTg>cAg	p.L158Q	TAS1R1_ENST00000351136.3_Missense_Mutation_p.L158Q|TAS1R1_ENST00000328191.4_Missense_Mutation_p.L158Q	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	158					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		ACAGCCGCCCTGCTGAGCCCT	0.607000													17	44					0	0	0.575678	0	0
ZNF83	55769	broad.mit.edu	37	19	53122219	53122219	+	Silent	SNP	A	A	G	rs10402820	by1000genomes	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:53122219A>G	ENST00000600714.1	-	4	394	c.112T>C	c.(112-114)Ttg>Ctg	p.L38L	ZNF83_ENST00000597161.1_Silent_p.L38L|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000596930.1_Silent_p.L38L|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000601257.1_Silent_p.L38L|ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000597597.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TAATTCTCCAACATCACATCT	0.468000													6	38					0	0	0.307466	0	0
ITSN2	50618	broad.mit.edu	37	2	24516556	24516556	+	Splice_Site	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:24516556C>G	ENST00000355123.4	-	15	2167		c.e15+1		ITSN2_ENST00000361999.3_Splice_Site|ITSN2_ENST00000406921.3_Splice_Site	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2						endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGAGACTTACCAGGTGTGTT	0.279000													5	34					0	0	0.184627	0	0
INO80	54617	broad.mit.edu	37	15	41387985	41387985	+	Silent	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:41387985T>C	ENST00000361937.3	-	3	709	c.285A>G	c.(283-285)acA>acG	p.T95T	INO80_ENST00000401393.3_Silent_p.T95T			Q9ULG1	INO80_HUMAN	INO80 complex subunit	95	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCAGAGAATATGTGTTTAACA	0.428000													9	44					0	0	0.387290	0	0
MRGPRF	116535	broad.mit.edu	37	11	68777350	68777350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:68777350C>T	ENST00000309099.6	-	2	402	c.20G>A	c.(19-21)tGg>tAg	p.W7*	MRGPRF_ENST00000441623.1_Nonsense_Mutation_p.W7*|MRGPRF_ENST00000320913.6_Nonsense_Mutation_p.W7*	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	7						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ATGGGCCTCCCAGGAGCAGTT	0.677000													13	38					0	0	0.500413	0	0
SPTA1	6708	broad.mit.edu	37	1	158646020	158646020	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:158646020G>T	ENST00000368148.3	-	8	1203	c.1023C>A	c.(1021-1023)atC>atA	p.I341I	SPTA1_ENST00000368147.3_Silent_p.I341I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	341					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATCTCCTGGATCTGAGGTG	0.468000													90	71					1.4958e-60	2.87507e-60	0.870114	1	0
PLK2	10769	broad.mit.edu	37	5	57755550	57755550	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:57755550C>T	ENST00000274289.3	-	1	537	c.237G>A	c.(235-237)ggG>ggA	p.G79G		NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	79					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		AGTAGCGCTTCCCAGTCGTGG	0.711000													3	11					0	0	0.150653	0	0
GLRA2	2742	broad.mit.edu	37	X	14622519	14622519	+	Splice_Site	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:14622519T>A	ENST00000218075.4	+	5	1107	c.577_splice	c.e5+1	p.F193_splice	GLRA2_ENST00000443437.2_Splice_Site_p.F104_splice|GLRA2_ENST00000355020.4_Splice_Site_p.F193_splice	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	193					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GCTGGAGAGTTGTAAGTCACC	0.418000													34	20					0	0	0.812448	0	0
SOCS5	9655	broad.mit.edu	37	2	46986074	46986074	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:46986074A>T	ENST00000306503.5	+	2	577	c.405A>T	c.(403-405)tcA>tcT	p.S135S	SOCS5_ENST00000394861.2_Silent_p.S135S	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	135					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCCAGAGTTCATTGGATGCTG	0.463000													14	26					0	0	0.520397	0	0
GPRC5C	55890	broad.mit.edu	37	17	72435895	72435895	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:72435895G>C	ENST00000392627.1	+	2	1241	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	GPRC5C_ENST00000481232.1_Missense_Mutation_p.E39Q|GPRC5C_ENST00000392629.2_Missense_Mutation_p.E6Q|GPRC5C_ENST00000342648.5_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	200						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GACCCAACCAGAGCCTGGCCT	0.572000													10	54					0	0	0.361761	0	0
SMURF1	57154	broad.mit.edu	37	7	98633176	98633176	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:98633176G>C	ENST00000361125.1	-	17	2370	c.2051C>G	c.(2050-2052)tCc>tGc	p.S684C	SMURF1_ENST00000361368.2_Missense_Mutation_p.S658C|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000360902.1_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	684	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GACTCGCGTGGACCCAGTCAC	0.597000													23	35					0	0	0.693898	0	0
NRP1	8829	broad.mit.edu	37	10	33486617	33486617	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:33486617T>A	ENST00000265371.4	-	13	2410	c.1885A>T	c.(1885-1887)Aca>Tca	p.T629S	NRP1_ENST00000466932.1_Intron|NRP1_ENST00000374822.4_Missense_Mutation_p.T629S|NRP1_ENST00000374821.5_Missense_Mutation_p.T594S|NRP1_ENST00000374867.2_Missense_Mutation_p.T629S|NRP1_ENST00000395995.1_Missense_Mutation_p.T629S			O14786	NRP1_HUMAN	neuropilin 1	629					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGCTTTTCTGTGGCCAGCACA	0.423000													8	28					0	0	0.307466	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14799128	14799128	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:14799128G>T	ENST00000358984.4	+	21	2238	c.2058_splice	c.e21+1	p.K686_splice	ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	737										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GTCTTCTGAAGGTAATAACTT	0.294000													4	38					0.00024832	0.000277447	0.150653	1	0
OR4C6	219432	broad.mit.edu	37	11	55433503	55433503	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55433503G>A	ENST00000314259.3	+	1	890	c.861G>A	c.(859-861)ctG>ctA	p.L287L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTATACACTGAGGAATGCAG	0.453000													14	31					0	0	0.557998	0	0
SACS	26278	broad.mit.edu	37	13	23913627	23913627	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:23913627C>A	ENST00000382298.3	-	10	4976	c.4388G>T	c.(4387-4389)aGa>aTa	p.R1463I	SACS_ENST00000402364.1_Missense_Mutation_p.R713I|SACS_ENST00000382292.3_Missense_Mutation_p.R1463I	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1463					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATTTTTAATTCTTACAGTAAG	0.368000													17	51					2.4624e-09	3.35376e-09	0.575678	1	0
KIF1A	547	broad.mit.edu	37	2	241715308	241715308	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:241715308G>A	ENST00000498729.2	-	11	1164	c.918C>T	c.(916-918)taC>taT	p.Y306Y	KIF1A_ENST00000320389.7_Silent_p.Y306Y	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	306	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGGAATCTCGGTACGGAATGA	0.567000													3	48					0	0	0.150653	0	0
PXDNL	137902	broad.mit.edu	37	8	52232491	52232491	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:52232491C>G	ENST00000356297.4	-	23	4452	c.4352G>C	c.(4351-4353)aGa>aCa	p.R1451T	RP11-401H2.1_ENST00000521294.1_RNA|PXDNL_ENST00000543296.1_3'UTR	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1451	VWFC.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCCTCGGTCTCTGCAAACTGG	0.512000													15	28					0	0	0.539581	0	0
TTN	7273	broad.mit.edu	37	2	179645895	179645895	+	Missense_Mutation	SNP	C	C	A	rs149883066		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179645895C>A	ENST00000589042.1	-	21	3700	c.3476G>T	c.(3475-3477)cGc>cTc	p.R1159L	TTN_ENST00000359218.5_Missense_Mutation_p.R1113L|TTN_ENST00000460472.2_Missense_Mutation_p.R1113L|TTN_ENST00000342992.6_Missense_Mutation_p.R1159L|TTN_ENST00000342175.6_Missense_Mutation_p.R1113L|TTN_ENST00000360870.5_Missense_Mutation_p.R1159L|TTN_ENST00000591111.1_Missense_Mutation_p.R1159L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1159	Ig-like 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCTTATTGCGAACAACAAT	0.388000													27	23					1.16021e-09	1.60047e-09	0.717897	1	0
FAF1	11124	broad.mit.edu	37	1	51171478	51171478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:51171478C>A	ENST00000396153.2	-	7	1088	c.637G>T	c.(637-639)Gga>Tga	p.G213*	FAF1_ENST00000371778.4_Nonsense_Mutation_p.G213*	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	213					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		GTACTGCTTCCTGAGAAGTTC	0.428000													6	26					0.00116845	0.00126512	0.217242	1	0
FUT1	2523	broad.mit.edu	37	19	49253552	49253552	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:49253552G>A	ENST00000310160.3	-	4	1961	c.987C>T	c.(985-987)acC>acT	p.T329T		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	329					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGTCTGGCAGGGTGAAGTTGG	0.567000													17	7					0	0	0.575678	0	0
SORCS3	22986	broad.mit.edu	37	10	106937921	106937921	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:106937921C>A	ENST00000369701.3	+	14	2226	c.1999C>A	c.(1999-2001)Cac>Aac	p.H667N	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	667						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AATGGAGACCCACATCATGAC	0.502000													13	26					1.3612e-06	1.68057e-06	0.479597	1	0
OR10W1	81341	broad.mit.edu	37	11	58034486	58034486	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:58034486G>T	ENST00000395079.2	-	1	1246	c.845C>A	c.(844-846)gCc>gAc	p.A282D		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GTTCCTCAGGGCATAGATAAG	0.537000													31	59					3.03874e-20	5.13854e-20	0.779181	1	0
RADIL	55698	broad.mit.edu	37	7	4841357	4841357	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:4841357G>A	ENST00000399583.3	-	12	2956	c.2769C>T	c.(2767-2769)ggC>ggT	p.G923G	RADIL_ENST00000538469.1_Silent_p.G683G|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	923	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACAGGGGCCGCCGGACTCTG	0.711000													3	4					0	0	0.115264	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181070	140181070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:140181070C>A	ENST00000522353.2	+	1	288	c.288C>A	c.(286-288)tgC>tgA	p.C96*	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Nonsense_Mutation_p.C96*|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAACTGTGCGGGCGGAGCG	0.552000													59	96					1.41595e-48	2.69066e-48	0.870114	1	0
ABCC2	1244	broad.mit.edu	37	10	101559009	101559009	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:101559009G>C	ENST00000370449.4	+	8	1026	c.913G>C	c.(913-915)Gtt>Ctt	p.V305L		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	305						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)	CAAAAAAGATGTTCCAAAATC	0.393000													45	111					0	0	0.859065	0	0
FOS	2353	broad.mit.edu	37	14	75748078	75748078	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:75748078A>T	ENST00000303562.4	+	4	1303	c.1094A>T	c.(1093-1095)aAt>aTt	p.N365I	FOS_ENST00000555347.1_Missense_Mutation_p.N217I|FOS_ENST00000535987.1_Missense_Mutation_p.N329I|FOS_ENST00000555686.1_Missense_Mutation_p.N251I	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	365					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		AGCAGCAGCAATGAGCCTTCC	0.657000													14	39					0	0	0.457914	0	0
COL1A1	1277	broad.mit.edu	37	17	48275559	48275559	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:48275559G>C	ENST00000225964.5	-	7	669	c.551C>G	c.(550-552)tCt>tGt	p.S184C		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	184	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACGAGGACCAGAGGGACCCTA	0.562000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	47					0	0	0.870114	0	0
AFF2	2334	broad.mit.edu	37	X	148037342	148037342	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:148037342C>A	ENST00000370460.2	+	11	2246	c.1767C>A	c.(1765-1767)ctC>ctA	p.L589L	AFF2_ENST00000286437.5_Silent_p.L230L|AFF2_ENST00000342251.3_Silent_p.L556L|AFF2_ENST00000370457.5_Silent_p.L556L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	589					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTCTCCTCAGTCTCATTA	0.483000													29	31					2.12542e-12	3.17967e-12	0.706142	1	0
HECW1	23072	broad.mit.edu	37	7	43484345	43484345	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:43484345G>T	ENST00000395891.1	+	11	2179	c.1574G>T	c.(1573-1575)cGg>cTg	p.R525L	HECW1_ENST00000453890.1_Missense_Mutation_p.R525L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	525					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGCAGCTGCGGGCCTCGGTG	0.657000													4	8					0.00024832	0.000277447	0.150653	1	0
RIMS2	9699	broad.mit.edu	37	8	104831656	104831656	+	Translation_Start_Site	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:104831656T>A	ENST00000507740.1	+	0	157				RIMS2_ENST00000262231.10_De_novo_Start_OutOfFrame|RIMS2_ENST00000406091.3_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGTGTTTTTATTTGATGGTGT	0.343000										HNSCC(12;0.0054)			16	8					0	0	0.539581	0	0
PDILT	204474	broad.mit.edu	37	16	20373839	20373839	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:20373839G>T	ENST00000302451.4	-	10	1551	c.1303C>A	c.(1303-1305)Caa>Aaa	p.Q435K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	435	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GAGTGGTTTTGATATTTTCTG	0.478000													17	37					3.32936e-07	4.17905e-07	0.539581	1	0
CYSLTR1	10800	broad.mit.edu	37	X	77528533	77528533	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:77528533G>A	ENST00000373304.3	-	3	1003	c.711C>T	c.(709-711)gtC>gtT	p.V237V		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	237					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CAGCGGTCACGACCATGATCA	0.333000													16	11					0	0	0.520397	0	0
NSG1	27065	broad.mit.edu	37	4	4393282	4393282	+	Silent	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:4393282C>G	ENST00000421177.2	+	7	2201	c.210C>G	c.(208-210)acC>acG	p.T70T	NSG1_ENST00000505246.1_Silent_p.T70T|NSG1_ENST00000397958.1_Silent_p.T70T|NSG1_ENST00000513555.1_Silent_p.T70T|NSG1_ENST00000504171.1_Intron|NSG1_ENST00000433139.2_Silent_p.T70T|NSG1_ENST00000506380.1_Silent_p.T70T																							CTGAGTTCACCGTCAGCATCA	0.532000													7	33					0	0	0.248553	0	0
NKX6-1	4825	broad.mit.edu	37	4	85416970	85416970	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:85416970T>C	ENST00000295886.4	-	2	919	c.698A>G	c.(697-699)gAc>gGc	p.D233G	NKX6-1_ENST00000515820.2_5'UTR	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	233	Repressor domain (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		TCTCTTCCCGTCTTTGTCCAA	0.483000													10	50					0	0	0.435327	0	0
CMPK1	51727	broad.mit.edu	37	1	47840957	47840957	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:47840957G>T	ENST00000371873.5	+	5	786	c.637G>T	c.(637-639)Gtt>Ttt	p.V213F	CMPK1_ENST00000450808.2_Missense_Mutation_p.V164F	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN	cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	181					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	TTCTAAATCTGTTGATGAAGT	0.313000													7	47					0.0381472	0.0391621	0.278610	1	0
MYH2	4620	broad.mit.edu	37	17	10429960	10429960	+	Nonsense_Mutation	SNP	G	G	T	rs1042076	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:10429960G>T	ENST00000245503.5	-	30	4527	c.4143C>A	c.(4141-4143)taC>taA	p.Y1381*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.Y1381*|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1381					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGTCCGTCTCGTATTTGGTCC	0.532000													16	210					1.40151e-16	2.27783e-16	0.592651	1	0
SLC25A53	401612	broad.mit.edu	37	X	103349077	103349077	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:103349077C>A	ENST00000357421.4	-	2	1044	c.864G>T	c.(862-864)acG>acT	p.T288T		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	288					transport	integral to membrane|mitochondrial inner membrane											CATGGATTGCCGTAGTGAGGC	0.532000													4	12					0.000602214	0.000658672	0.184627	1	0
PARP15	165631	broad.mit.edu	37	3	122354909	122354909	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:122354909C>G	ENST00000483793.1	+	9	1454	c.1414C>G	c.(1414-1416)Cag>Gag	p.Q472E	PARP15_ENST00000464300.2_Missense_Mutation_p.Q667E|PARP15_ENST00000310366.4_Missense_Mutation_p.Q433E|PARP15_ENST00000493645.1_Missense_Mutation_p.Q364E			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	645	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CTTTGATAATCAGGCTTACCC	0.368000													9	30					0	0	0.361761	0	0
PRKG1	5592	broad.mit.edu	37	10	54053613	54053613	+	Missense_Mutation	SNP	G	G	T	rs142375882		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:54053613G>T	ENST00000373980.4	+	18	2431	c.2014G>T	c.(2014-2016)Gat>Tat	p.D672Y	PRKG1_ENST00000373985.1_Missense_Mutation_p.D645Y|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Missense_Mutation_p.D657Y|PRKG1_ENST00000373975.2_Missense_Mutation_p.D375Y	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	657					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TGAGGACAACGATGAACCACC	0.398000													20	41					1.85244e-09	2.53909e-09	0.654019	1	0
SDK2	54549	broad.mit.edu	37	17	71387661	71387661	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:71387661C>A	ENST00000392650.3	-	28	3915	c.3915G>T	c.(3913-3915)atG>atT	p.M1305I	SDK2_ENST00000388726.3_Missense_Mutation_p.M1305I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1305	Fibronectin type-III 8.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACAGGATGCCCATGGGTGGTC	0.662000													10	9					0.000442599	0.000486924	0.335167	1	0
NLRC5	84166	broad.mit.edu	37	16	57110788	57110788	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:57110788G>T	ENST00000262510.6	+	40	5034	c.4809G>T	c.(4807-4809)agG>agT	p.R1603S	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.R1574S|NLRC5_ENST00000308149.7_Missense_Mutation_p.R1574S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1603					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGCTCTCAGGGCTGCCACCA	0.552000													7	46					2.17888e-05	2.52636e-05	0.335167	1	0
RAB3GAP2	25782	broad.mit.edu	37	1	220379258	220379258	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:220379258C>A	ENST00000358951.2	-	8	819	c.703G>T	c.(703-705)Gta>Tta	p.V235L		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	235					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTTTGCTACCTGATTTCGA	0.308000													20	14					1.96895e-08	2.60164e-08	0.639603	1	0
ARMC9	80210	broad.mit.edu	37	2	232156095	232156095	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:232156095C>G	ENST00000349938.4	+	18	1850	c.1656C>G	c.(1654-1656)atC>atG	p.I552M	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	552							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GCTGCTTCATCAAAGAAGGCA	0.388000													25	153					0	0	0.769981	0	0
COL26A1	136227	broad.mit.edu	37	7	101176381	101176381	+	RNA	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:101176381G>T	ENST00000313669.7	+	0	596				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		AACTGCACCCGGCTCAGTGAC	0.587000													4	6					0.0215528	0.0222019	0.217242	1	0
HEATR5B	54497	broad.mit.edu	37	2	37208830	37208830	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:37208830G>C	ENST00000233099.5	-	36	6114	c.6019C>G	c.(6019-6021)Ctc>Gtc	p.L2007V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L1918V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	2007							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAATTCTGGAGTGCAAACTCA	0.433000													18	61					0	0	0.575678	0	0
CNGA3	1261	broad.mit.edu	37	2	99012508	99012508	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:99012508A>C	ENST00000393504.1	+	8	1292	c.875A>C	c.(874-876)gAg>gCg	p.E292A	CNGA3_ENST00000409937.1_Missense_Mutation_p.E296A|CNGA3_ENST00000272602.2_Missense_Mutation_p.E292A|CNGA3_ENST00000436404.2_Missense_Mutation_p.E274A	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	292					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GACCGCACAGAGACAAGGACC	0.473000													25	23					0	0	0.667858	0	0
HEATR5A	25938	broad.mit.edu	37	14	31813206	31813206	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:31813206T>A	ENST00000543095.2	-	21	3308	c.3124A>T	c.(3124-3126)Aac>Tac	p.N1042Y	HEATR5A_ENST00000439348.1_Missense_Mutation_p.N1036Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.N1042Y|HEATR5A_ENST00000389961.3_Missense_Mutation_p.N1036Y|HEATR5A_ENST00000439727.1_Missense_Mutation_p.N749Y	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1036							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CAGTCTGGGTTATCTTGCATT	0.428000													9	29					0	0	0.307466	0	0
CYLD	1540	broad.mit.edu	37	16	50830247	50830247	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:50830247G>T	ENST00000540145.1	+	19	3114	c.2699G>T	c.(2698-2700)gGc>gTc	p.G900V	RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.G900V|CYLD_ENST00000568704.2_Missense_Mutation_p.G715V|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Missense_Mutation_p.G897V|CYLD_ENST00000569418.1_Missense_Mutation_p.G897V|CYLD_ENST00000398568.2_Missense_Mutation_p.G897V|CYLD_ENST00000427738.3_Missense_Mutation_p.G900V			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	900					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGTCAGAATGGCTTCAACATT	0.448000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				5	46					4.096e-09	5.53862e-09	0.217242	1	0
CDK8	1024	broad.mit.edu	37	13	26957008	26957008	+	Splice_Site	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:26957008G>A	ENST00000381527.3	+	5	1017	c.514_splice	c.e5+1	p.A172_splice	CDK8_ENST00000536792.1_Intron	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	172	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGTAAAAATTGGTATGTTATA	0.328000													15	36					0	0	0.557998	0	0
DUSP5	1847	broad.mit.edu	37	10	112258062	112258062	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:112258062G>T	ENST00000369583.3	+	1	467	c.183G>T	c.(181-183)tcG>tcT	p.S61S		NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	61	Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		gcgcggTGTCGGCGCGCTACG	0.776000													3	16					0.004672	0.00490332	0.115264	1	0
MMP3	4314	broad.mit.edu	37	11	102709892	102709892	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:102709892C>A	ENST00000299855.5	-	7	1274	c.1018G>T	c.(1018-1020)Gtg>Ttg	p.V340L		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	340	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.V340M(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GCGGCATCCACGCCTGAAGGA	0.378000													13	49					4.75885e-15	7.47606e-15	0.520397	1	0
ESYT2	57488	broad.mit.edu	37	7	158534284	158534284	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:158534284T>A	ENST00000251527.5	-	17	2244	c.2179A>T	c.(2179-2181)Agc>Tgc	p.S727C	ESYT2_ENST00000435514.2_Missense_Mutation_p.S162C	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	755						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GAGGCGATGCTGGGGGTCGGC	0.647000													20	33					0	0	0.639603	0	0
TULP1	7287	broad.mit.edu	37	6	35477640	35477640	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:35477640C>G	ENST00000229771.6	-	6	644	c.565G>C	c.(565-567)Ggg>Cgg	p.G189R	TULP1_ENST00000322263.4_Missense_Mutation_p.G136R	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	189					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCCCCTCCCCTGCTGGAGCT	0.567000													39	74					0	0	0.859065	0	0
NXF4	55999	broad.mit.edu	37	X	101820679	101820679	+	RNA	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:101820679A>T	ENST00000360035.2	+	0	1281					NR_002216.1															endometrium(2)|lung(8)	10						ATATTTCCCCAAGTTGTTATG	0.458000													4	12					0	0	0.150653	0	0
MT-ND4	4538	broad.mit.edu	37	MT	12129	12129	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrM:12129T>C	ENST00000361381.2	+	1	1370	c.1370T>C	c.(1369-1371)tTt>tCt	p.457_457insS						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CATTACCGGGTTTTCCTCTTG	0.423000													29	35					0	0	0.796494	0	0
PTPRE	5791	broad.mit.edu	37	10	129846042	129846042	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:129846042G>T	ENST00000254667.3	+	5	503	c.224G>T	c.(223-225)aGg>aTg	p.R75M	PTPRE_ENST00000419012.2_Missense_Mutation_p.R75M|PTPRE_ENST00000430713.2_Missense_Mutation_p.R75M|PTPRE_ENST00000306042.5_Missense_Mutation_p.R17M|PTPRE_ENST00000471218.1_Missense_Mutation_p.R75M	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	75					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AGGAAGCAGAGGAAAGCTGTG	0.552000													13	43					2.32078e-09	3.16949e-09	0.479597	1	0
CELA3A	10136	broad.mit.edu	37	1	22332024	22332024	+	Missense_Mutation	SNP	G	G	T	rs144066143		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:22332024G>T	ENST00000290122.3	+	3	233	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C	CELA3A_ENST00000374663.1_Missense_Mutation_p.G72C	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTGACTGCCGGCCACTGCAT	0.617000											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	80					2.0095e-06	2.45678e-06	0.248553	1	0
DENND2A	27147	broad.mit.edu	37	7	140285455	140285455	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:140285455C>A	ENST00000275884.6	-	4	1596	c.1179G>T	c.(1177-1179)ctG>ctT	p.L393L	DENND2A_ENST00000537639.1_Silent_p.L393L|DENND2A_ENST00000492720.1_Silent_p.L393L|DENND2A_ENST00000496613.1_Silent_p.L393L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	393										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					ACTTCTTTCCCAGGCAGCGAC	0.522000													35	103					9.73076e-26	1.73722e-25	0.827153	1	0
SRFBP1	153443	broad.mit.edu	37	5	121355030	121355030	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:121355030C>T	ENST00000339397.4	+	5	418	c.346C>T	c.(346-348)Cta>Tta	p.L116L		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		GATAGATGTGCTAAAAGGTAT	0.313000													19	40					0	0	0.592651	0	0
DYM	54808	broad.mit.edu	37	18	46812949	46812949	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:46812949G>T	ENST00000269445.6	-	9	1258	c.801C>A	c.(799-801)ggC>ggA	p.G267G	DYM_ENST00000442713.2_Silent_p.G77G	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	267						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CCGCTTTGCTGCCCACACCAC	0.537000													7	17					0.000157383	0.000176895	0.278610	1	0
CREB5	9586	broad.mit.edu	37	7	28610146	28610146	+	Missense_Mutation	SNP	G	G	T	rs114450022	by1000genomes	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:28610146G>T	ENST00000357727.2	+	5	845	c.455G>T	c.(454-456)cGc>cTc	p.R152L	CREB5_ENST00000396300.2_Missense_Mutation_p.R145L|CREB5_ENST00000409603.1_Missense_Mutation_p.R119L|CREB5_ENST00000396299.2_Missense_Mutation_p.R119L	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	152					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TCCACCAACCGCCAGATCGGG	0.587000													11	52					7.03913e-09	9.40842e-09	0.411799	1	0
RABGAP1L	9910	broad.mit.edu	37	1	174190250	174190250	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:174190250C>T	ENST00000251507.4	+	3	453	c.279C>T	c.(277-279)gcC>gcT	p.A93A	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Silent_p.A56A	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	93					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ATATTCCAGCCAGCCAAACAA	0.368000													57	62					0	0	0.870114	0	0
PPRC1	23082	broad.mit.edu	37	10	103901572	103901572	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:103901572G>C	ENST00000278070.2	+	5	3346	c.3307G>C	c.(3307-3309)Gag>Cag	p.E1103Q	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.E1103Q|PPRC1_ENST00000370012.1_Missense_Mutation_p.E70Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1103	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCTAAAGCCTGAGACCCAAGA	0.592000													3	8					0	0	0.115264	0	0
RALGAPB	57148	broad.mit.edu	37	20	37146502	37146502	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:37146502A>G	ENST00000262879.6	+	9	1560	c.1276A>G	c.(1276-1278)Agt>Ggt	p.S426G	RALGAPB_ENST00000397042.3_Missense_Mutation_p.S426G|RALGAPB_ENST00000537204.1_Missense_Mutation_p.S426G|RALGAPB_ENST00000397038.1_Missense_Mutation_p.S204G|RALGAPB_ENST00000397040.1_Missense_Mutation_p.S426G			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	426					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAATCAGACTAGTTCAGAACC	0.473000													11	59					0	0	0.435327	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815464	106815464	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:106815464G>A	ENST00000407775.2	+	8	3404	c.3154G>A	c.(3154-3156)Gag>Aag	p.E1052K	ZFPM2_ENST00000520492.1_Missense_Mutation_p.E920K|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E783K|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E920K|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1052					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAAACAAGATGAGAGACCTGC	0.488000													3	22					0	0	0.150653	0	0
ZNF831	128611	broad.mit.edu	37	20	57769446	57769446	+	Silent	SNP	G	G	T	rs150212573	by1000genomes	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:57769446G>T	ENST00000371030.2	+	1	3372	c.3372G>T	c.(3370-3372)ccG>ccT	p.P1124P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1124						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCCCGACCCGTGTTCCCCCC	0.667000													11	30					4.36969e-10	6.08361e-10	0.435327	1	0
NCOA1	8648	broad.mit.edu	37	2	24933855	24933855	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:24933855C>T	ENST00000405141.1	+	15	3185	c.2474C>T	c.(2473-2475)gCa>gTa	p.A825V	NCOA1_ENST00000538539.1_Missense_Mutation_p.A825V|NCOA1_ENST00000348332.3_Missense_Mutation_p.A825V|NCOA1_ENST00000407230.1_Missense_Mutation_p.A674V|NCOA1_ENST00000406961.1_Missense_Mutation_p.A825V|NCOA1_ENST00000288599.5_Missense_Mutation_p.A825V|NCOA1_ENST00000395856.3_Missense_Mutation_p.A825V			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	825	Interaction with CREBBP.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGAAGGCAGCACAGTTGCCA	0.473000			T	PAX3	alveolar rhadomyosarcoma								20	60					0	0	0.592651	0	0
PLSCR1	5359	broad.mit.edu	37	3	146251271	146251271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:146251271G>A	ENST00000448787.2	-	3	246	c.55C>T	c.(55-57)Cga>Tga	p.R19*	PLSCR1_ENST00000448205.1_5'UTR|PLSCR1_ENST00000342435.4_Missense_Mutation_p.P27L|PLSCR1_ENST00000487389.1_Missense_Mutation_p.P20L			O15162	PLS1_HUMAN	phospholipid scramblase 1	0					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GAATGCTGTCGGTGGATACTG	0.433000													29	93					0	0	0.804634	0	0
SNHG14	104472715	broad.mit.edu	37	15	25432760	25432760	+	RNA	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:25432760G>T	ENST00000424208.1	+	0	761				SNORD115-10_ENST00000365073.1_RNA	NR_003305.1																						TTACGCTGAGGCCCAGCCTAG	0.488000													82	160					5.86298e-51	1.11977e-50	0.870114	1	0
RFX6	222546	broad.mit.edu	37	6	117237403	117237403	+	Missense_Mutation	SNP	G	G	T	rs146184246		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:117237403G>T	ENST00000332958.2	+	9	914	c.898G>T	c.(898-900)Gac>Tac	p.D300Y	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	300					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.D300N(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGGAATGCCTGACCATCTCCT	0.338000													36	85					3.54561e-26	6.37531e-26	0.847076	1	0
FAM171A1	221061	broad.mit.edu	37	10	15317910	15317910	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:15317910C>A	ENST00000378116.4	-	3	368	c.362G>T	c.(361-363)cGc>cTc	p.R121L		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	121						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AGTGGCAGAGCGTTCTGGAAG	0.348000													8	38					2.27111e-07	2.86266e-07	0.411799	1	0
SPATA17	128153	broad.mit.edu	37	1	217822223	217822223	+	Splice_Site	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:217822223G>C	ENST00000366933.4	+	2	123		c.e2-1			NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17							cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTTTGTTTTAGTGTTGTAGAT	0.308000													12	64					0	0	0.435327	0	0
PAK7	57144	broad.mit.edu	37	20	9560828	9560828	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:9560828G>T	ENST00000378429.3	-	5	1500	c.954C>A	c.(952-954)taC>taA	p.Y318*	PAK7_ENST00000378423.1_Nonsense_Mutation_p.Y318*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.Y318*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	318	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACAAGCGAGGGTAGGTGTAGG	0.547000													60	76					1.64915e-30	3.00118e-30	0.870114	1	0
PTPRB	5787	broad.mit.edu	37	12	71003085	71003085	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:71003085G>T	ENST00000334414.6	-	4	787	c.743C>A	c.(742-744)aCc>aAc	p.T248N	PTPRB_ENST00000550857.1_Missense_Mutation_p.T30N|PTPRB_ENST00000451516.2_Missense_Mutation_p.T30N|PTPRB_ENST00000550358.1_Missense_Mutation_p.T248N|PTPRB_ENST00000538708.1_Missense_Mutation_p.T30N|PTPRB_ENST00000551525.1_Missense_Mutation_p.T247N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000261266.5_Missense_Mutation_p.T30N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	30	Fibronectin type-III 3.				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)			CTCCGCCAGGGTGAAGTTACA	0.522000													12	34					0.00244969	0.00262032	0.457914	1	0
PLA2G4F	255189	broad.mit.edu	37	15	42436757	42436757	+	Silent	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:42436757C>G	ENST00000397272.3	-	17	1963	c.1872G>C	c.(1870-1872)gtG>gtC	p.V624V	PLA2G4F_ENST00000382396.4_Silent_p.V622V	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	622	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		ATATGTCCAGCACAGCCTGGG	0.622000													6	39					0	0	0.278610	0	0
OSTF1	26578	broad.mit.edu	37	9	77745523	77745523	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:77745523C>T	ENST00000346234.6	+	4	312	c.162C>T	c.(160-162)tcC>tcT	p.S54S		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	54	SH3.				ossification|signal transduction	cytoplasm	identical protein binding			endometrium(1)|skin(1)	2						AAGGCACCTCCAAAGGCAGGA	0.383000													22	33					0	0	0.706142	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435764	104435764	+	RNA	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:104435764C>A	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							GGTCAATCTTCATTGAAAGCC	0.408000													4	8					1.23904e-05	1.44667e-05	0.184627	1	0
C17orf97	400566	broad.mit.edu	37	17	263305	263305	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:263305G>T	ENST00000360127.6	+	2	687	c.671G>T	c.(670-672)gGc>gTc	p.G224V	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	224	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GCCCTCAAGGGCTTCCACCCC	0.697000													33	21					4.34086e-07	5.43963e-07	0.812448	1	0
ZNF492	57615	broad.mit.edu	37	19	22847456	22847456	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:22847456A>T	ENST00000456783.2	+	4	1229	c.985A>T	c.(985-987)Aga>Tga	p.R329*		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TACACATAAGAGAATTCATTC	0.378000													8	7					0	0	0.335167	0	0
GPR22	2845	broad.mit.edu	37	7	107115596	107115596	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:107115596C>A	ENST00000304402.4	+	3	2434	c.1091C>A	c.(1090-1092)cCt>cAt	p.P364H	COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000297135.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	364						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						ATATTTCACCCTCTATTATAT	0.318000													13	39					0.000308642	0.000340797	0.479597	1	0
URGCP	55665	broad.mit.edu	37	7	43917515	43917515	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:43917515C>G	ENST00000336086.6	-	4	3654	c.1418G>C	c.(1417-1419)tGg>tCg	p.W473S	URGCP_ENST00000447717.3_Missense_Mutation_p.W473S|URGCP_ENST00000443736.1_Missense_Mutation_p.W473S|URGCP_ENST00000402306.3_Missense_Mutation_p.W507S|URGCP_ENST00000223341.7_Missense_Mutation_p.W473S|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Missense_Mutation_p.W516S			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	516					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCCACGGCCCACTGGAGCTG	0.627000													15	38					0	0	0.520397	0	0
NAP1L1	4673	broad.mit.edu	37	12	76444424	76444424	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:76444424C>A	ENST00000261182.8	-	12	1432	c.946G>T	c.(946-948)Gct>Tct	p.A316S	NAP1L1_ENST00000549596.1_Missense_Mutation_p.A316S|NAP1L1_ENST00000547773.1_Missense_Mutation_p.A253S|NAP1L1_ENST00000431879.3_Missense_Mutation_p.A248S|NAP1L1_ENST00000535020.2_Missense_Mutation_p.A316S|NAP1L1_ENST00000548044.1_Missense_Mutation_p.A275S|NAP1L1_ENST00000393263.3_Missense_Mutation_p.A316S|NAP1L1_ENST00000547993.1_Missense_Mutation_p.A133S|NAP1L1_ENST00000552342.1_Missense_Mutation_p.A327S|NAP1L1_ENST00000542344.1_Missense_Mutation_p.A274S|NAP1L1_ENST00000544816.1_Missense_Mutation_p.A133S	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	316					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				ATAGCTTCAGCATCATCATCC	0.363000													13	12					1.5842e-08	2.10434e-08	0.435327	1	0
OR2L3	391192	broad.mit.edu	37	1	248224661	248224661	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:248224661C>A	ENST00000359959.3	+	1	678	c.678C>A	c.(676-678)caC>caA	p.H226Q	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTGTCTACCACATGAAATCTG	0.463000													37	100					6.18754e-15	9.70026e-15	0.870114	1	0
LTBP2	4053	broad.mit.edu	37	14	74995241	74995241	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:74995241C>A	ENST00000261978.4	-	12	2699	c.2313G>T	c.(2311-2313)caG>caT	p.Q771H	LTBP2_ENST00000556690.1_Missense_Mutation_p.Q771H	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	771					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCCGGAGGGGCTGCCTCTCTG	0.652000													9	58					4.68919e-08	6.13139e-08	0.361761	1	0
C15orf39	56905	broad.mit.edu	37	15	75499772	75499772	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:75499772C>T	ENST00000360639.2	+	2	1703	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	C15orf39_ENST00000567617.1_Silent_p.P461P|C15orf39_ENST00000394987.4_Silent_p.P461P			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	461										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTGGGCCGCCCATCGTCATCC	0.652000													14	32					0	0	0.557998	0	0
MAP2K3	5606	broad.mit.edu	37	17	21207773	21207773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:21207773G>T	ENST00000342679.4	+	8	853	c.604G>T	c.(604-606)Ggc>Tgc	p.G202C	MAP2K3_ENST00000361818.5_Missense_Mutation_p.G173C|MAP2K3_ENST00000316920.6_Missense_Mutation_p.G173C	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	202	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CAACAAGGAGGGCCATGTGAA	0.577000													26	95					2.41591e-17	3.96937e-17	0.681144	1	0
CARD14	79092	broad.mit.edu	37	17	78169367	78169367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:78169367G>T	ENST00000573882.1	+	13	2046	c.1510G>T	c.(1510-1512)Gag>Tag	p.E504*	CARD14_ENST00000392434.2_Nonsense_Mutation_p.E267*|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Nonsense_Mutation_p.E504*|CARD14_ENST00000570421.1_Nonsense_Mutation_p.E504*			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	504					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAGCTGCCTGGAGATCCCGGA	0.647000													4	19					1.23904e-05	1.44667e-05	0.184627	1	0
FNDC3A	22862	broad.mit.edu	37	13	49712912	49712912	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:49712912G>T	ENST00000492622.2	+	7	1095	c.790G>T	c.(790-792)Gca>Tca	p.A264S	FNDC3A_ENST00000398316.3_Missense_Mutation_p.A208S|FNDC3A_ENST00000541916.1_Missense_Mutation_p.A264S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	264						Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AGCATTTGAAGCACTTCTTTC	0.249000													11	22					0.00244969	0.00262032	0.457914	1	0
ADAD2	161931	broad.mit.edu	37	16	84229857	84229857	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:84229857G>T	ENST00000268624.3	+	9	1746	c.1653G>T	c.(1651-1653)ggG>ggT	p.G551G	ADAD2_ENST00000315906.5_Silent_p.G469G|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	469	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGTTTGCAGGGCCCCCGGTGG	0.692000													12	70					6.31663e-08	8.20235e-08	0.479597	1	0
LGALS9C	654346	broad.mit.edu	37	17	18392294	18392294	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:18392294G>A	ENST00000328114.6	+	5	565	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000583322.1_Intron|LGALS9C_ENST00000412421.2_Missense_Mutation_p.V74M	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	162							sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						CTTCTCCACGGTGCCGTTCTC	0.597000													4	67					0	0	0.184627	0	0
OR5T3	390154	broad.mit.edu	37	11	56020058	56020058	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:56020058C>G	ENST00000303059.3	+	1	383	c.383C>G	c.(382-384)gCa>gGa	p.A128G		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATCGGATGTGCAACACAGATG	0.373000													12	90					0	0	0.457914	0	0
ZNF536	9745	broad.mit.edu	37	19	30935373	30935373	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:30935373T>A	ENST00000355537.3	+	2	1051	c.904T>A	c.(904-906)Tgc>Agc	p.C302S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCTACAAGTGCACGTTGTG	0.652000													22	86					0	0	0.667858	0	0
TCF21	6943	broad.mit.edu	37	6	134210578	134210578	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:134210578G>T	ENST00000367882.4	+	1	303	c.43G>T	c.(43-45)Gtg>Ttg	p.V15L	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.V15L	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	15					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CCTTCAAGAGGTGGAGATGTT	0.532000													32	81					3.21399e-22	5.59845e-22	0.804634	1	0
FAT3	120114	broad.mit.edu	37	11	92590415	92590415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:92590415G>T	ENST00000298047.6	+	19	11418	c.11401G>T	c.(11401-11403)Gag>Tag	p.E3801*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.E3801*|FAT3_ENST00000533797.1_Nonsense_Mutation_p.E136*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.E3651*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3801	EGF-like 1.				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)				TCCTTGTGTGGAGAAGCCGTG	0.557000										TCGA Ovarian(4;0.039)			20	31					8.10497e-08	1.04614e-07	0.592651	1	0
SEL1L3	23231	broad.mit.edu	37	4	25835118	25835118	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:25835118C>G	ENST00000399878.3	-	4	1056	c.934G>C	c.(934-936)Gac>Cac	p.D312H	SEL1L3_ENST00000264868.5_Missense_Mutation_p.D277H|SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000502949.1_Missense_Mutation_p.D159H	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	312						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCATTAGAGTCAACAAAGTAC	0.368000													5	34					0	0	0.217242	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28275671	28275671	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:28275671C>T	ENST00000373894.3	+	3	562	c.371C>T	c.(370-372)cCa>cTa	p.P124L	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.P124L|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.P124L	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	124					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GAGGTCTTTCCAGGTAAGACT	0.552000													12	21					0	0	0.387290	0	0
CEP89	84902	broad.mit.edu	37	19	33444540	33444540	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:33444540G>T	ENST00000305768.4	-	4	561	c.473C>A	c.(472-474)gCt>gAt	p.A158D	CEP89_ENST00000590597.1_Missense_Mutation_p.A158D	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	158						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GTGTGGCACAGCGTACAGGTC	0.473000													12	323					1.56452e-12	2.34289e-12	0.557998	1	0
ANKRD19P	138649	broad.mit.edu	37	9	95599155	95599155	+	RNA	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:95599155C>A	ENST00000473204.1	+	0	1236																											ACGTGCTCCTCAAACTTGGTG	0.537000													11	16					6.40141e-05	7.28203e-05	0.387290	1	0
GIMAP1	170575	broad.mit.edu	37	7	150417431	150417431	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:150417431C>A	ENST00000307194.5	+	3	479	c.339C>A	c.(337-339)caC>caA	p.H113Q		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGGACCCCACGCGCTGCTCC	0.622000													12	32					3.07112e-06	3.70652e-06	0.387290	1	0
ZNF720	124411	broad.mit.edu	37	16	31734648	31734648	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:31734648G>T	ENST00000316491.9	+	3	399	c.200G>T	c.(199-201)aGt>aTt	p.S67I	ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000398696.3_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000399681.3_5'UTR|ZNF720_ENST00000531864.2_Intron	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	67	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						AATGTGAAGAGTGCAGAGACA	0.473000													10	11					7.03913e-09	9.40842e-09	0.411799	1	0
MMRN2	79812	broad.mit.edu	37	10	88696877	88696877	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:88696877G>T	ENST00000372027.4	-	7	2546	c.2473C>A	c.(2473-2475)Cct>Act	p.P825T		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	825	C1q.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AAGGCCACAGGGGATCCTGAA	0.488000													5	21					3.59834e-05	4.13712e-05	0.217242	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121650906	121650906	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:121650906C>A	ENST00000393386.2	+	12	2217	c.1806C>A	c.(1804-1806)aaC>aaA	p.N602K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.N602K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	602					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCTCTGAGAACATATCCCAAG	0.418000													5	25					0.014758	0.0152967	0.184627	1	0
ACVR2B	93	broad.mit.edu	37	3	38524706	38524706	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:38524706G>T	ENST00000352511.3	+	11	1894	c.1422G>T	c.(1420-1422)gtG>gtT	p.V474V		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	474	Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CGGGCTGTGTGGAGGAGCGGG	0.617000													22	59					9.57634e-11	1.3571e-10	0.654019	1	0
TBC1D17	79735	broad.mit.edu	37	19	50391574	50391574	+	Splice_Site	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:50391574C>T	ENST00000221543.5	+	16	2045	c.1746_splice	c.e16+1	p.P582_splice	TBC1D17_ENST00000535102.2_Splice_Site_p.P549_splice	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	582						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCGCCTGCCCCGTGAGTCCCC	0.697000													6	7					0	0	0.217242	0	0
OXT	5020	broad.mit.edu	37	20	3052344	3052344	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:3052344G>A	ENST00000217386.2	+	1	79	c.43G>A	c.(43-45)Gcg>Acg	p.A15T		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	15					signal transduction		neurohypophyseal hormone activity			lung(2)	2					Oxytocin(DB00107)	CGGCCTCCTGGCGCTGACCTC	0.721000													5	3					0	0	0.184627	0	0
PLCB1	23236	broad.mit.edu	37	20	8637874	8637874	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:8637874G>T	ENST00000378641.3	+	8	1113	c.638G>T	c.(637-639)aGa>aTa	p.R213I	PLCB1_ENST00000378637.2_Missense_Mutation_p.R213I|PLCB1_ENST00000338037.6_Missense_Mutation_p.R213I	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	213					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.R213K(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAAGTGTACAGAGTTTTCCTC	0.388000													22	39					7.76418e-22	1.34932e-21	0.693898	1	0
MC5R	4161	broad.mit.edu	37	18	13826379	13826379	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:13826379C>G	ENST00000324750.3	+	1	837	c.615C>G	c.(613-615)taC>taG	p.Y205*		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	205					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTCTCTGTACATACACATGT	0.597000													128	407					0	0	0.870114	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130768	52130768	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:52130768C>A	ENST00000222107.4	-	6	1367	c.1229G>T	c.(1228-1230)tGc>tTc	p.C410F	SIGLEC5_ENST00000599649.1_Missense_Mutation_p.C410F|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.C410F|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.C410F|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.C410F			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	410					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CCAGGCCTTGCAGCTGACTTT	0.642000													57	49					2.6711e-34	4.93253e-34	0.870114	1	0
SLC2A3	6515	broad.mit.edu	37	12	8075439	8075439	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:8075439C>A	ENST00000075120.7	-	9	1490	c.1250G>T	c.(1249-1251)gGa>gTa	p.G417V		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	417					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GAAGAGCAATCCGACTAGGAA	0.517000													26	38					8.4185e-14	1.28628e-13	0.760397	1	0
GPR17	2840	broad.mit.edu	37	2	128408738	128408738	+	Silent	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:128408738C>G	ENST00000544369.1	+	4	1124	c.513C>G	c.(511-513)cgC>cgG	p.R171R	GPR17_ENST00000272644.3_Silent_p.R171R|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000393018.3_Silent_p.R171R|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409808.2_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	171						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCAAGCTCCGCAGGCCCCTCT	0.627000													18	105					0	0	0.592651	0	0
TCOF1	6949	broad.mit.edu	37	5	149754931	149754931	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:149754931G>A	ENST00000451292.1	+	11	1626	c.1518G>A	c.(1516-1518)gtG>gtA	p.V506V	TCOF1_ENST00000323668.7_Silent_p.V429V|TCOF1_ENST00000394269.3_Silent_p.V506V|TCOF1_ENST00000439160.2_Silent_p.V506V|TCOF1_ENST00000513346.1_Silent_p.V506V|TCOF1_ENST00000504761.2_Silent_p.V506V|TCOF1_ENST00000377797.3_Silent_p.V506V|TCOF1_ENST00000445265.2_Silent_p.V429V			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	506					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCCCAGGTGAAACCTGCCT	0.627000													26	31					0	0	0.717897	0	0
OR6K3	391114	broad.mit.edu	37	1	158687187	158687187	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:158687187C>G	ENST00000368146.1	-	1	766	c.767G>C	c.(766-768)tGt>tCt	p.C256S	OR6K3_ENST00000368145.1_Missense_Mutation_p.C240S			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GTGGCCTGCACAGGTAGAAAA	0.448000													17	15					0	0	0.500413	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125877423	125877423	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:125877423C>A	ENST00000393434.2	-	3	536	c.187G>T	c.(187-189)Gga>Tga	p.G63*	ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.G63*|ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.G63*|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.G73*|ALDH1L1_ENST00000393431.2_Nonsense_Mutation_p.G63*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	63	GART.			G -> A (in Ref. 1; AAC35000).	10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAAGCCTGTCCTTTTGCACGC	0.552000													30	71					2.05212e-20	3.48189e-20	0.812448	1	0
OXCT2	64064	broad.mit.edu	37	1	40236125	40236125	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:40236125C>A	ENST00000327582.5	-	1	895	c.803G>T	c.(802-804)cGc>cTc	p.R268L	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	268					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	CTTTATCACGCGATCTACATA	0.537000											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	81					0.184627	0.18724	0.184627	1	0
C16orf45	89927	broad.mit.edu	37	16	15677094	15677094	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:15677094C>A	ENST00000300006.4	+	5	860	c.502_splice	c.e5+1	p.A167_splice	C16orf45_ENST00000561692.1_Splice_Site_p.A119_splice|C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000452191.2_Splice_Site_p.A150_splice|C16orf45_ENST00000566490.1_Intron	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	167										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						AATCTCCAGCCAGTGAGTATA	0.433000													22	66					3.5997e-14	5.56788e-14	0.624587	1	0
LRRC7	57554	broad.mit.edu	37	1	70504868	70504868	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:70504868G>T	ENST00000310961.5	+	22	3680	c.3262G>T	c.(3262-3264)Gag>Tag	p.E1088*	LRRC7_ENST00000415775.2_Nonsense_Mutation_p.E367*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.E1083*			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1083						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCCACCGATGGAGCAAATGTT	0.517000													16	36					9.16793e-09	1.22104e-08	0.520397	1	0
GBF1	8729	broad.mit.edu	37	10	104019846	104019846	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:104019846C>G	ENST00000369983.3	+	3	396	c.136C>G	c.(136-138)Cta>Gta	p.L46V		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	46					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTTCGGTCATCTAAAGGAGGT	0.338000													30	78					0	0	0.812448	0	0
TRIOBP	11078	broad.mit.edu	37	22	38111769	38111769	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:38111769G>T	ENST00000406386.3	+	6	711		c.e6-1		RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein						actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TTCTCTGGCAGGACTGGGACA	0.587000													7	21					4.68919e-08	6.13139e-08	0.361761	1	0
SLITRK1	114798	broad.mit.edu	37	13	84454630	84454630	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:84454630C>G	ENST00000377084.2	-	1	1898	c.1013G>C	c.(1012-1014)aGt>aCt	p.S338T		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	338	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCAGGGTAAACTGTTAGCTAA	0.537000													15	62					0	0	0.557998	0	0
CILP	8483	broad.mit.edu	37	15	65494368	65494368	+	Splice_Site	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:65494368C>T	ENST00000261883.4	-	8	1195		c.e8-1			NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase						negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ATTATGATACCTGCAAGGGAT	0.527000													6	39					0	0	0.248553	0	0
UPK3A	7380	broad.mit.edu	37	22	45683165	45683165	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:45683165G>C	ENST00000216211.4	+	3	353	c.321G>C	c.(319-321)ctG>ctC	p.L107L	UPK3A_ENST00000396082.2_Intron	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	107					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCTTTGACCTGATCCCCTGCA	0.587000													12	44					0	0	0.457914	0	0
MARK1	4139	broad.mit.edu	37	1	220835440	220835440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:220835440C>T	ENST00000402574.1	+	17	2872	c.1870C>T	c.(1870-1872)Cga>Tga	p.R624*	MARK1_ENST00000366918.4_Nonsense_Mutation_p.R737*|MARK1_ENST00000366917.4_Nonsense_Mutation_p.R774*	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	774					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TCGCTTCAAGCGAATATCTGG	0.438000													32	33					0	0	0.804634	0	0
SMYD3	64754	broad.mit.edu	37	1	246093203	246093203	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:246093203T>A	ENST00000490107.1	-	6	607	c.391A>T	c.(391-393)Atg>Ttg	p.M131L	SMYD3_ENST00000388985.4_Missense_Mutation_p.M190L|SMYD3_ENST00000541742.1_Missense_Mutation_p.M131L|SMYD3_ENST00000366517.1_5'UTR	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	190	SET.					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		ACTTCCTGCATCTCCGCATTA	0.453000													41	59					0	0	0.870114	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156918261	156918261	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:156918261G>C	ENST00000368194.3	-	23	2994	c.1955C>G	c.(1954-1956)tCt>tGt	p.S652C	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S28C|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S612C	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	612					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGCTTTCAGAGCGGCCCAG	0.572000													15	44					0	0	0.557998	0	0
CPSF4	10898	broad.mit.edu	37	7	99047933	99047933	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:99047933C>T	ENST00000436336.2	+	4	503	c.342C>T	c.(340-342)caC>caT	p.H114H	PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000451876.1_Intron|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000441580.1_Silent_p.H61H|CPSF4_ENST00000292476.5_Silent_p.H114H|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	114					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCTTCCTGCACATCGACCCCG	0.617000													15	34					0	0	0.557998	0	0
FGF8	2253	broad.mit.edu	37	10	103534631	103534631	+	Silent	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:103534631C>G	ENST00000347978.2	-	3	277	c.108G>C	c.(106-108)gtG>gtC	p.V36V	FGF8_ENST00000346714.3_Silent_p.V25V|FGF8_ENST00000344255.3_Silent_p.V54V|FGF8_ENST00000320185.2_Silent_p.V65V|FGF8_ENST00000485728.1_5'UTR	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	54					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TCTGCTCCCTCACATGCTGTG	0.542000													16	24					0	0	0.520397	0	0
NME7	29922	broad.mit.edu	37	1	169292368	169292368	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:169292368T>A	ENST00000367811.3	-	3	521	c.265A>T	c.(265-267)Agt>Tgt	p.S89C	NME7_ENST00000472647.1_Missense_Mutation_p.S53C|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	89	DM10.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TCTTTCCTACTGCCCAGCTGG	0.358000													27	24					0	0	0.740014	0	0
PSMA6	5687	broad.mit.edu	37	14	35780014	35780014	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:35780014G>C	ENST00000261479.4	+	4	442	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000556506.1_Missense_Mutation_p.E108Q|PSMA6_ENST00000555764.1_Missense_Mutation_p.E29Q|PSMA6_ENST00000553809.1_Missense_Mutation_p.E108Q|PSMA6_ENST00000540871.1_Missense_Mutation_p.E89Q	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	108					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		GTATGGCTATGAGATTCCTGT	0.423000													26	34					0	0	0.706142	0	0
RAMP2	10266	broad.mit.edu	37	17	40914379	40914379	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:40914379C>A	ENST00000253796.5	+	3	238	c.170C>A	c.(169-171)aCg>aAg	p.T57K	RAMP2_ENST00000587142.1_Missense_Mutation_p.T62K|RAMP2_ENST00000589683.1_5'UTR|RAMP2_ENST00000588576.1_Intron	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	57					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	ACAGGGGGGACGGTGAAGAAC	0.498000													74	124					4.00701e-44	7.56656e-44	0.870114	1	0
FSTL5	56884	broad.mit.edu	37	4	162307403	162307403	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:162307403G>T	ENST00000306100.5	-	16	2476	c.2040C>A	c.(2038-2040)gaC>gaA	p.D680E	FSTL5_ENST00000379164.4_Missense_Mutation_p.D679E|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.D679E|FSTL5_ENST00000427802.2_Missense_Mutation_p.D670E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	680						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGTTACACCGTCCACCATGA	0.498000													18	25					2.39187e-15	3.77917e-15	0.575678	1	0
USH2A	7399	broad.mit.edu	37	1	216243462	216243462	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:216243462G>T	ENST00000366943.2	-	30	6416	c.6030C>A	c.(6028-6030)gtC>gtA	p.V2010V	USH2A_ENST00000307340.3_Silent_p.V2010V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2010	Fibronectin type-III 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCTTGTATTGACAAATTCAG	0.408000										HNSCC(13;0.011)			21	61					7.07758e-08	9.17464e-08	0.681144	1	0
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:40580552T>G	ENST00000450241.2	-	6	2006	c.1695A>C	c.(1693-1695)caA>caC	p.Q565H	ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H			O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403000													4	188					0	0	0.217242	0	0
CACNG5	27091	broad.mit.edu	37	17	64881147	64881147	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:64881147G>T	ENST00000533854.1	+	6	855	c.618G>T	c.(616-618)gcG>gcT	p.A206A	CACNG5_ENST00000307139.3_Silent_p.A206A			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	206				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GGTACACCGCGGAGGACATGT	0.612000													27	42					4.74835e-14	7.29212e-14	0.750413	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156914841	156914841	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:156914841C>A	ENST00000368194.3	-	30	4000	c.2961G>T	c.(2959-2961)agG>agT	p.R987S	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R363S|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R947S	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	947	PH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.R987S(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTTGCTGGCCCTCTCCAGGG	0.562000													98	72					1.11883e-47	2.1207e-47	0.870114	1	0
PXDNL	137902	broad.mit.edu	37	8	52366326	52366326	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:52366326G>T	ENST00000356297.4	-	10	1102	c.1002C>A	c.(1000-1002)atC>atA	p.I334I	PXDNL_ENST00000543296.1_Silent_p.I334I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	334	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCTGAGGCTGGATTACAAAGC	0.448000													14	83					1.45105e-14	2.2607e-14	0.539581	1	0
APOC1	341	broad.mit.edu	37	19	45419583	45419583	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:45419583G>T	ENST00000588750.1	+	4	519		c.e4+1		APOC1_ENST00000252491.4_Splice_Site|APOC1_ENST00000592885.1_Silent_p.R65R|APOC1_ENST00000586638.1_Silent_p.R65R|APOC1_ENST00000589781.1_Intron|APOC1_ENST00000588802.1_Splice_Site			P02654	APOC1_HUMAN	apolipoprotein C-I						cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		CCAAGATGCGGTTAGAACCCT	0.512000													20	67					4.96729e-08	6.46134e-08	0.575678	1	0
CTAGE5	4253	broad.mit.edu	37	14	39762580	39762580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:39762580G>T	ENST00000553728.1	+	10	2308	c.2095G>T	c.(2095-2097)Gaa>Taa	p.E699*	CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.E164*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.E89*|CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.E135*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.E84*|RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.E135*|CTAGE5_ENST00000348007.3_Nonsense_Mutation_p.E164*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.E169*|CTAGE5_ENST00000280083.3_Nonsense_Mutation_p.E164*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.E135*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.E152*																							TGAACAAGATGAATTGGTAAG	0.294000													10	20					6.40141e-05	7.28203e-05	0.387290	1	0
UNC93A	54346	broad.mit.edu	37	6	167721356	167721356	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:167721356C>A	ENST00000230256.3	+	7	1241	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	UNC93A_ENST00000366829.2_Missense_Mutation_p.L314M	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	356						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATTCTCTGGCCTGTGGGGCGT	0.632000													7	48					2.7689e-08	3.64903e-08	0.248553	1	0
SLC25A13	10165	broad.mit.edu	37	7	95775939	95775939	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:95775939C>G	ENST00000416240.2	-	14	1574	c.1384G>C	c.(1384-1386)Gaa>Caa	p.E462Q	SLC25A13_ENST00000265631.5_Missense_Mutation_p.E461Q|SLC25A13_ENST00000542654.1_Missense_Mutation_p.E353Q	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	461					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GTGGTGATTTCTCCTGCCACT	0.413000													64	129					0	0	0.870114	0	0
PTPN18	26469	broad.mit.edu	37	2	131126739	131126739	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:131126739G>C	ENST00000175756.5	+	6	549	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	PTPN18_ENST00000347849.3_Missense_Mutation_p.E43Q	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	150	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CCAGGAGCAGGAGCCACTGCA	0.537000													48	187					0	0	0.870114	0	0
SUPT3H	8464	broad.mit.edu	37	6	44988328	44988328	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:44988328C>A	ENST00000371460.1	-	6	578	c.261G>T	c.(259-261)agG>agT	p.R87S	SUPT3H_ENST00000371459.1_Missense_Mutation_p.R76S|SUPT3H_ENST00000371461.2_Missense_Mutation_p.R87S|SUPT3H_ENST00000306867.5_Missense_Mutation_p.R76S	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	158					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						GAGTGATTACCCTTGCTCCCC	0.313000													18	47					1.66031e-10	2.33529e-10	0.667858	1	0
GLI3	2737	broad.mit.edu	37	7	42005524	42005524	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:42005524G>C	ENST00000395925.3	-	15	3231	c.3147C>G	c.(3145-3147)taC>taG	p.Y1049*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1049					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGGGCCGCGTGTAATTCTGAA	0.667000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				6	33					0	0	0.248553	0	0
ZFHX3	463	broad.mit.edu	37	16	72991600	72991600	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:72991600C>A	ENST00000268489.5	-	2	3117	c.2445G>T	c.(2443-2445)gtG>gtT	p.V815V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	815					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V815V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGTTCCTGGCCACGTTGGTCT	0.552000													30	104					4.74835e-14	7.29212e-14	0.750413	1	0
PRDM16	63976	broad.mit.edu	37	1	3328730	3328730	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:3328730G>T	ENST00000378398.3	+	10	2054	c.1972G>T	c.(1972-1974)Ggg>Tgg	p.G658W	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.G657W|PRDM16_ENST00000270722.5_Missense_Mutation_p.G657W|PRDM16_ENST00000441472.2_Missense_Mutation_p.G657W|PRDM16_ENST00000514189.1_Missense_Mutation_p.G658W|PRDM16_ENST00000511072.1_Missense_Mutation_p.G658W|PRDM16_ENST00000378391.2_Missense_Mutation_p.G657W			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	657					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCGCCCCCGGGGGCCCCGAA	0.692000			T	EVI1	"""MDS, AML"""								12	20					5.50884e-06	6.55918e-06	0.411799	1	0
DZIP1	22873	broad.mit.edu	37	13	96293773	96293773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:96293773G>T	ENST00000347108.3	-	3	805	c.373C>A	c.(373-375)Cag>Aag	p.Q125K	DZIP1_ENST00000376829.2_Missense_Mutation_p.Q125K|DZIP1_ENST00000361156.3_Missense_Mutation_p.Q125K|DZIP1_ENST00000361396.2_Missense_Mutation_p.Q125K|DZIP1_ENST00000466027.1_5'UTR			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	125					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ATGGTGAACTGCGCCAGACGG	0.607000													15	66					1.99824e-07	2.52931e-07	0.520397	1	0
HECW1	23072	broad.mit.edu	37	7	43477686	43477686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:43477686C>A	ENST00000395891.1	+	9	1491	c.886C>A	c.(886-888)Cgc>Agc	p.R296S	HECW1_ENST00000453890.1_Missense_Mutation_p.R296S|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	296	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CATCATCAAGCGCTTCTTGGG	0.493000													11	38					5.50884e-06	6.55918e-06	0.411799	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21779997	21779997	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:21779997G>A	ENST00000206660.6	+	8	945	c.945G>A	c.(943-945)ctG>ctA	p.L315L	RPGRIP1_ENST00000556336.1_Silent_p.L288L|RPGRIP1_ENST00000400017.2_Silent_p.L315L|RPGRIP1_ENST00000557771.1_Silent_p.L288L			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	315					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGGGAATCCTGAGTGCAGCCC	0.517000													4	11					0	0	0.217242	0	0
SV2B	9899	broad.mit.edu	37	15	91769718	91769718	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:91769718G>T	ENST00000394232.1	+	2	695	c.225G>T	c.(223-225)cgG>cgT	p.R75R	SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Silent_p.R75R	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	75					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ACAGCCTTCGGGGCCAGACAG	0.582000													7	17					0.00307968	0.00326403	0.278610	1	0
NF1	4763	broad.mit.edu	37	17	29677323	29677323	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:29677323G>A	ENST00000358273.4	+	50	7827	c.7444G>A	c.(7444-7446)Gac>Aac	p.D2482N	NF1_ENST00000356175.3_Missense_Mutation_p.D2461N|NF1_ENST00000444181.2_Missense_Mutation_p.D275N|NF1_ENST00000417592.2_Missense_Mutation_p.D195N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2482					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCATCATGGTGACCCTTCCTA	0.363000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			14	57					0	0	0.479597	0	0
MORC3	23515	broad.mit.edu	37	21	37713755	37713755	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr21:37713755G>T	ENST00000400485.1	+	6	743	c.667G>T	c.(667-669)Gag>Tag	p.E223*	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	223					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CAGAATTCCCGAGGATTTAGA	0.368000													13	25					0.000151284	0.000170422	0.435327	1	0
PTPRH	5794	broad.mit.edu	37	19	55693137	55693137	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:55693137G>T	ENST00000376350.3	-	20	3355	c.3333C>A	c.(3331-3333)caC>caA	p.H1111Q	PTPRH_ENST00000263434.5_Missense_Mutation_p.H933Q	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1111					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.H1111Q(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCTCCAACTTGTGGGCCTGGA	0.607000													75	48					4.38691e-48	8.32572e-48	0.870114	1	0
FAT4	79633	broad.mit.edu	37	4	126411120	126411120	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:126411120G>T	ENST00000394329.3	+	17	13156	c.13143G>T	c.(13141-13143)aaG>aaT	p.K4381N	FAT4_ENST00000335110.5_Missense_Mutation_p.K2622N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4381	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCAGCGGGAAGCATAGCTTGG	0.493000													36	186					1.22674e-20	2.09088e-20	0.840704	1	0
TRPM5	29850	broad.mit.edu	37	11	2441587	2441587	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:2441587G>T	ENST00000452833.1	-	4	528	c.520C>A	c.(520-522)Ccc>Acc	p.P174T	TRPM5_ENST00000533060.1_Missense_Mutation_p.P172T|TRPM5_ENST00000155858.6_Missense_Mutation_p.P172T|TRPM5_ENST00000528453.1_Missense_Mutation_p.P172T			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	172						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAACAGAGGGGGCCCTGGCTG	0.667000													17	30					1.33834e-09	1.83777e-09	0.557998	1	0
ARHGEF15	22899	broad.mit.edu	37	17	8222370	8222370	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:8222370C>A	ENST00000361926.3	+	13	2189	c.2079C>A	c.(2077-2079)gtC>gtA	p.V693V	ARHGEF15_ENST00000421050.1_Silent_p.V693V|ARHGEF15_ENST00000582060.1_Intron	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	693					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCTCCCTGGTCCAGGCCCAGC	0.647000													60	30					2.2129e-31	4.03686e-31	0.870114	1	0
PCDHA3	56145	broad.mit.edu	37	5	140181946	140181946	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:140181946G>T	ENST00000522353.2	+	1	1164	c.1164G>T	c.(1162-1164)tcG>tcT	p.S388S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.S388S|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCTGCTCGCTGACGCCCC	0.552000													41	49					1.22674e-20	2.09088e-20	0.840704	1	0
KIF20B	9585	broad.mit.edu	37	10	91497935	91497935	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:91497935C>G	ENST00000416354.1	+	20	3499	c.3427C>G	c.(3427-3429)Cta>Gta	p.L1143V	KIF20B_ENST00000371728.3_Missense_Mutation_p.L1113V|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.L1113V|KIF20B_ENST00000260753.4_Missense_Mutation_p.L1073V			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1113					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CCAAGATGACCTACTAAAAGA	0.333000													11	26					0	0	0.387290	0	0
ZNF786	136051	broad.mit.edu	37	7	148768605	148768605	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:148768605C>A	ENST00000316286.9	-	3	1273	c.1001G>T	c.(1000-1002)gGt>gTt	p.G334V	ZNF786_ENST00000491431.1_Missense_Mutation_p.G420V|ZNF786_ENST00000451334.3_Missense_Mutation_p.G383V			Q8N393	ZN786_HUMAN	zinc finger protein 786	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTCTCCCCACCGTGCGCGTG	0.622000													11	24					1.49906e-05	1.74755e-05	0.457914	1	0
CES1	1066	broad.mit.edu	37	16	55857462	55857462	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:55857462C>A	ENST00000422046.2	-	4	817	c.536_splice	c.e4+1	p.S179_splice	CES1_ENST00000361503.4_Splice_Site_p.S179_splice|CES1_ENST00000360526.3_Splice_Site_p.S180_splice|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	179					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GATTTCTTACCTGAAGAATCC	0.562000													13	40					9.16793e-09	1.22104e-08	0.520397	1	0
CD34	947	broad.mit.edu	37	1	208072464	208072464	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:208072464G>T	ENST00000356522.4	-	3	691	c.370C>A	c.(370-372)Cca>Aca	p.P124T	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Intron|CD34_ENST00000310833.7_Missense_Mutation_p.P124T	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	124					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						ACGTTGGCTGGGGTGGTGAAC	0.463000													46	183					4.0181e-32	7.3657e-32	0.870114	1	0
RFFL	117584	broad.mit.edu	37	17	33348688	33348688	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:33348688C>A	ENST00000315249.7	-	3	515	c.293G>T	c.(292-294)cGa>cTa	p.R98L	RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000415395.2_Missense_Mutation_p.R98L|RFFL_ENST00000413582.2_Missense_Mutation_p.R98L|RFFL_ENST00000394597.2_Missense_Mutation_p.R98L|RFFL_ENST00000378516.2_Missense_Mutation_p.R98L|RFFL_ENST00000447669.2_Missense_Mutation_p.R98L|RFFL_ENST00000584655.1_Missense_Mutation_p.R98L|RFFL_ENST00000268850.7_Missense_Mutation_p.R98L			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	98					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GAGCTCCTCTCGCTGAAAGGC	0.517000													35	42					4.32679e-17	7.08577e-17	0.827153	1	0
DNAH8	1769	broad.mit.edu	37	6	38813461	38813461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:38813461G>T	ENST00000359357.3	+	34	4560	c.4306G>T	c.(4306-4308)Gag>Tag	p.E1436*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.E1436*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.E1653*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGAAAAGGAGAGCTCCTGCT	0.408000													21	46					2.39556e-15	3.77917e-15	0.639603	1	0
SLC12A5	57468	broad.mit.edu	37	20	44673655	44673655	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:44673655C>A	ENST00000454036.1	+	12	1590	c.1514C>A	c.(1513-1515)cCa>cAa	p.P505Q	SLC12A5_ENST00000243964.3_Missense_Mutation_p.P482Q|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	505					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGCCTGGCCATCTCCATGG	0.607000													64	133					3.79363e-24	6.70907e-24	0.870114	1	0
BPTF	2186	broad.mit.edu	37	17	65871850	65871850	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:65871850G>C	ENST00000321892.4	+	5	2104	c.2043G>C	c.(2041-2043)caG>caC	p.Q681H	BPTF_ENST00000335221.5_Missense_Mutation_p.Q681H|BPTF_ENST00000306378.6_Intron|BPTF_ENST00000424123.3_Missense_Mutation_p.Q542H			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	681	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGCTCCCCCAGGATGTGCCAG	0.522000													6	20					0	0	0.248553	0	0
TUBB8	347688	broad.mit.edu	37	10	94620	94620	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:94620C>A	ENST00000309812.4	-	3	274	c.212G>T	c.(211-213)gGc>gTc	p.G71V	TUBB8_ENST00000332708.5_Missense_Mutation_p.A35S|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	71					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GTCCATGGTGCCCGGCTCCAG	0.701000													20	41					1.42536e-11	2.08066e-11	0.681144	1	0
ABCG8	64241	broad.mit.edu	37	2	44079786	44079786	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:44079786C>G	ENST00000272286.2	+	6	833	c.743C>G	c.(742-744)gCc>gGc	p.A248G		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	248	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGCTTCACAGCCCACAACCTG	0.582000													31	66					0	0	0.788014	0	0
CDC16	8881	broad.mit.edu	37	13	115037915	115037915	+	Silent	SNP	G	G	T	rs61755296	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:115037915G>T	ENST00000360383.3	+	18	2058	c.1860G>T	c.(1858-1860)acG>acT	p.T620T	CDC16_ENST00000375310.1_Silent_p.T526T|CDC16_ENST00000375312.3_Silent_p.T475T|CDC16_ENST00000252458.6_Silent_p.T475T|CDC16_ENST00000375308.1_Silent_p.T526T|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000356221.3_Silent_p.T620T|CDC16_ENST00000252457.5_Silent_p.T619T	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	620					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			ACCACAGCACGTGACTCCAGT	0.453000													4	33					0.150653	0.153198	0.150653	1	0
MYH8	4626	broad.mit.edu	37	17	10302883	10302883	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:10302883C>A	ENST00000403437.2	-	28	3933	c.3839G>T	c.(3838-3840)aGa>aTa	p.R1280I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1280					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGGCGCGCTCTCTGTGCTGT	0.468000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				13	138					6.81908e-15	1.06681e-14	0.457914	1	0
MYO10	4651	broad.mit.edu	37	5	16701710	16701710	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:16701710C>A	ENST00000513610.1	-	25	3248	c.2794G>T	c.(2794-2796)Gag>Tag	p.E932*	MYO10_ENST00000274203.9_Nonsense_Mutation_p.E289*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.E271*|MYO10_ENST00000427430.2_Nonsense_Mutation_p.E289*|MYO10_ENST00000505695.1_Nonsense_Mutation_p.E271*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	932					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACGCTTCCTCCTCCAGCCTG	0.647000													4	10					0.00024832	0.000277447	0.150653	1	0
BRINP2	57795	broad.mit.edu	37	1	177249868	177249868	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:177249868A>C	ENST00000361539.4	+	8	1868	c.1556A>C	c.(1555-1557)cAg>cCg	p.Q519P	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		519						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TACCTGCTGCAGAAGCAGGAT	0.587000													18	16					0	0	0.575678	0	0
MBL2	4153	broad.mit.edu	37	10	54531325	54531325	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:54531325G>T	ENST00000373968.3	-	1	135	c.71C>A	c.(70-72)aCc>aAc	p.T24N		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	24	Cys-rich.		T -> A (in Chinese).		acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						ATCCTCACAGGTCACAGTTTC	0.547000													12	14					7.93312e-07	9.81854e-07	0.457914	1	0
SCNN1D	6339	broad.mit.edu	37	1	1222975	1222975	+	Splice_Site	SNP	C	C	G	rs147342518		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:1222975C>G	ENST00000338555.2	+	7	2050	c.907_splice	c.e7+1	p.H302_splice	SCNN1D_ENST00000325425.8_Splice_Site_p.H368_splice|SCNN1D_ENST00000400928.3_Splice_Site_p.H302_splice|SCNN1D_ENST00000379116.5_Splice_Site_p.H466_splice					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)		GCATCACCCACGGTGGGTGCC	0.682000													12	29					0	0	0.387290	0	0
IMMT	10989	broad.mit.edu	37	2	86371621	86371621	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:86371621C>G	ENST00000410111.3	-	15	2434	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q	IMMT_ENST00000254636.5_Missense_Mutation_p.E584Q|IMMT_ENST00000449247.2_Missense_Mutation_p.E672Q|IMMT_ENST00000409051.2_Missense_Mutation_p.E636Q|IMMT_ENST00000442664.2_Missense_Mutation_p.E682Q	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	683						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTTATATCCTCAGGGCAGAGC	0.473000													9	23					0	0	0.307466	0	0
ARAP2	116984	broad.mit.edu	37	4	36160403	36160403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:36160403G>A	ENST00000303965.4	-	15	3190	c.2701C>T	c.(2701-2703)Caa>Taa	p.Q901*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	901	PH 3.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GAAGGAGCTTGATATAAAAAG	0.333000													4	23					0	0	0.150653	0	0
LSAMP	4045	broad.mit.edu	37	3	115529206	115529206	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:115529206C>A	ENST00000490035.1	-	7	1474	c.975G>T	c.(973-975)tgG>tgT	p.W325C	LSAMP_ENST00000539563.1_Missense_Mutation_p.W345C	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	325					cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTGCCAGCAGCCACAGTGGTA	0.413000													5	25					0.27861	0.281604	0.278610	1	0
BAHD1	22893	broad.mit.edu	37	15	40750889	40750889	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:40750889C>T	ENST00000561234.1	+	2	485	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	BAHD1_ENST00000416165.1_Missense_Mutation_p.R76C|BAHD1_ENST00000560846.1_Missense_Mutation_p.R76C			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	76					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCTGCTGACTCGCCTGGAGAA	0.637000													7	37					0	0	0.307466	0	0
GABRB3	2562	broad.mit.edu	37	15	26825485	26825485	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:26825485C>T	ENST00000541819.2	-	7	933	c.831G>A	c.(829-831)agG>agA	p.R277R	GABRB3_ENST00000299267.4_Silent_p.R221R|GABRB3_ENST00000400188.3_Silent_p.R150R|GABRB3_ENST00000545868.1_Silent_p.R136R|GABRB3_ENST00000311550.5_Silent_p.R221R			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	221					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGACAACATTCCTCGAGACCA	0.552000													14	61					0	0	0.500413	0	0
RAG1	5896	broad.mit.edu	37	11	36594961	36594961	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:36594961G>T	ENST00000299440.5	+	2	219	c.107G>T	c.(106-108)aGa>aTa	p.R36I		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	36	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTCCGGGTGAGATCCTTTGAA	0.468000									Familial Hemophagocytic Lymphohistiocytosis				11	33					1.58986e-06	1.95486e-06	0.361761	1	0
ACIN1	22985	broad.mit.edu	37	14	23538785	23538785	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:23538785C>A	ENST00000262710.1	-	9	2666	c.2339G>T	c.(2338-2340)aGa>aTa	p.R780I	ACIN1_ENST00000457657.1_Missense_Mutation_p.R740I|ACIN1_ENST00000605057.1_Missense_Mutation_p.R722I|ACIN1_ENST00000397341.3_Missense_Mutation_p.R22I|ACIN1_ENST00000557515.1_Missense_Mutation_p.R22I|ACIN1_ENST00000338631.6_Missense_Mutation_p.R53I|ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000555053.1_Missense_Mutation_p.R780I|ACIN1_ENST00000357481.2_Missense_Mutation_p.R22I	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	780					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ATTTTCAGGTCTGTTTTCACT	0.537000											OREG0022596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	31					3.27435e-08	4.29634e-08	0.457914	1	0
OR13F1	138805	broad.mit.edu	37	9	107267456	107267456	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:107267456C>G	ENST00000334726.2	+	1	1002	c.913C>G	c.(913-915)Ctg>Gtg	p.L305V		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAAAAAATTGCTGATTAGAAA	0.353000													12	24					0	0	0.435327	0	0
VWCE	220001	broad.mit.edu	37	11	61026361	61026361	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:61026361G>A	ENST00000335613.5	-	20	3040	c.2654C>T	c.(2653-2655)tCc>tTc	p.S885F	VWCE_ENST00000535710.1_Missense_Mutation_p.S350F	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	885						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGGCCACCTGGACACTATCTG	0.647000													3	11					0	0	0.115264	0	0
SETD1A	9739	broad.mit.edu	37	16	30991034	30991034	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:30991034G>T	ENST00000262519.8	+	14	4613	c.3927G>T	c.(3925-3927)acG>acT	p.T1309T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.T1309T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCAAGCCCACGCCCCCTGCGC	0.706000													10	13					3.07112e-06	3.70652e-06	0.387290	1	0
CHRM2	1129	broad.mit.edu	37	7	136700111	136700111	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:136700111G>T	ENST00000445907.2	+	3	1027	c.499G>T	c.(499-501)Ggg>Tgg	p.G167W	AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.G167W|CHRM2_ENST00000397608.3_Missense_Mutation_p.G167W|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.G167W|CHRM2_ENST00000402486.3_Missense_Mutation_p.G167W|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.G167W|AC009264.1_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	167					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTTCATTGTAGGGGTGAGAAC	0.498000													43	97					3.68337e-26	6.61513e-26	0.870114	1	0
WDR72	256764	broad.mit.edu	37	15	53908067	53908067	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:53908067T>G	ENST00000396328.1	-	15	2575	c.2336A>C	c.(2335-2337)cAg>cCg	p.Q779P	WDR72_ENST00000360509.5_Missense_Mutation_p.Q779P|WDR72_ENST00000557913.1_Missense_Mutation_p.Q776P|WDR72_ENST00000559418.1_Missense_Mutation_p.Q789P	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	779										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGGCTTAGGCTGCATTTTTTT	0.383000													22	102					0	0	0.639603	0	0
SNTG1	54212	broad.mit.edu	37	8	51705290	51705290	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:51705290C>A	ENST00000522124.1	+	19	2116	c.1455C>A	c.(1453-1455)gcC>gcA	p.A485A	SNTG1_ENST00000518864.1_Silent_p.A485A|SNTG1_ENST00000517473.1_Silent_p.A448A|SNTG1_ENST00000276467.5_Silent_p.A448A	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	485					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCTTTGCTGCCAAGGTAGCTT	0.398000													19	141					9.7654e-05	0.000110503	0.557998	1	0
ZNF563	147837	broad.mit.edu	37	19	12432132	12432132	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:12432132C>T	ENST00000293725.5	-	3	350	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	ZNF563_ENST00000595977.1_Missense_Mutation_p.E49K	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTATTCTGTTCTTCCCATATC	0.313000													7	15					0	0	0.278610	0	0
NGEF	25791	broad.mit.edu	37	2	233791856	233791856	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:233791856C>A	ENST00000264051.3	-	4	702	c.424G>T	c.(424-426)Gag>Tag	p.E142*	NGEF_ENST00000409079.1_Nonsense_Mutation_p.E50*|NGEF_ENST00000373552.4_Nonsense_Mutation_p.E50*	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	142	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GCCGGCCACTCCTCGGGCGTG	0.627000													10	48					7.03913e-09	9.40842e-09	0.411799	1	0
ANXA13	312	broad.mit.edu	37	8	124748097	124748097	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:124748097T>A	ENST00000262219.6	-	2	103	c.36A>T	c.(34-36)tcA>tcT	p.S12S	ANXA13_ENST00000419625.1_Intron	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	0					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	p.L11fs*51(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GACTGCCTTCTGAGAGGGTGT	0.522000													45	38					0	0	0.870114	0	0
RNF150	57484	broad.mit.edu	37	4	141847210	141847210	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:141847210G>T	ENST00000306799.3	-	5	1435	c.782C>A	c.(781-783)tCc>tAc	p.S261Y	RNF150_ENST00000379512.2_Missense_Mutation_p.S162Y|RNF150_ENST00000515673.1_Missense_Mutation_p.S303Y|RNF150_ENST00000507500.1_Missense_Mutation_p.S303Y|RNF150_ENST00000420921.2_Missense_Mutation_p.S162Y	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	303						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GTCAACACAGGACTTGTGGAA	0.522000													7	27					5.18039e-06	6.20246e-06	0.278610	1	0
TRPA1	8989	broad.mit.edu	37	8	72983985	72983985	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:72983985C>A	ENST00000262209.4	-	2	436	c.229G>T	c.(229-231)Gag>Tag	p.E77*		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	77						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TCCATTAGCTCAATTTGGCCT	0.343000													31	31					3.33393e-15	5.254e-15	0.804634	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18889718	18889718	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:18889718G>T	ENST00000380548.4	+	25	4954	c.4615G>T	c.(4615-4617)Gcg>Tcg	p.A1539S	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A240S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1539						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCAGCCCATCGCGTGCAACCG	0.667000													3	5					2.56e-06	3.11212e-06	0.150653	1	0
MYO1G	64005	broad.mit.edu	37	7	45007525	45007525	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:45007525C>G	ENST00000258787.7	-	13	1743	c.1607G>C	c.(1606-1608)aGa>aCa	p.R536T		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	536	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GAGGAAATCTCTGTTCTTGTC	0.622000													10	24					0	0	0.411799	0	0
TAC1	6863	broad.mit.edu	37	7	97365653	97365653	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:97365653C>G	ENST00000319273.5	+	6	629	c.332C>G	c.(331-333)gCt>gGt	p.A111G	TAC1_ENST00000350485.4_Intron|TAC1_ENST00000346867.4_Missense_Mutation_p.A96G	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	111					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	GGCAAAAGAGCTTTAAATTCT	0.269000													21	49					0	0	0.624587	0	0
C1orf173	127254	broad.mit.edu	37	1	75037079	75037079	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:75037079G>A	ENST00000326665.5	-	14	4533	c.4315C>T	c.(4315-4317)Cgg>Tgg	p.R1439W	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1439	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GAGGTCTTCCGCTCCAGGGCT	0.612000													4	132					0	0	0.184627	0	0
ADCY2	108	broad.mit.edu	37	5	7626284	7626284	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:7626284T>C	ENST00000338316.4	+	4	664	c.575T>C	c.(574-576)cTg>cCg	p.L192P		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	192				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTTTAGATCCTGGCCAATGTG	0.438000													19	108					0	0	0.624587	0	0
MYO18B	84700	broad.mit.edu	37	22	26351286	26351286	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:26351286C>A	ENST00000335473.7	+	39	6362	c.6112C>A	c.(6112-6114)Ctg>Atg	p.L2038M	MYO18B_ENST00000407587.2_Missense_Mutation_p.L2039M|MYO18B_ENST00000536101.1_Missense_Mutation_p.L2038M	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2038	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CATGGAAGAGCTGGTGCAGCG	0.637000													12	27					3.45872e-05	3.99798e-05	0.500413	1	0
OR2M7	391196	broad.mit.edu	37	1	248487649	248487649	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:248487649G>A	ENST00000317965.2	-	1	250	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGTGGTGCAGATGAGCATGA	0.493000													170	136					0	0	0.870114	0	0
NGEF	25791	broad.mit.edu	37	2	233839474	233839474	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:233839474G>C	ENST00000264051.3	-	2	405	c.127C>G	c.(127-129)Caa>Gaa	p.Q43E		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	43	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGGTCAGCTTGAGAAGTCTCC	0.443000													21	80					0	0	0.608945	0	0
STAT2	6773	broad.mit.edu	37	12	56737841	56737841	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:56737841C>A	ENST00000314128.4	-	23	2204	c.2181G>T	c.(2179-2181)ctG>ctT	p.L727L	STAT2_ENST00000557235.1_Silent_p.L723L|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	727					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						gctctggcaccagccctagtt	0.572000													7	4					0.00198382	0.00212502	0.248553	1	0
NAIP	4671	broad.mit.edu	37	5	70308510	70308510	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:70308510G>T	ENST00000517649.1	-	4	523	c.233C>A	c.(232-234)cCa>cAa	p.P78Q	NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.P78Q|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.P78Q	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	78					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CATCTCCTGTGGTATCCATGA	0.488000													9	44					1.12685e-05	1.327e-05	0.307466	1	0
EOMES	8320	broad.mit.edu	37	3	27760974	27760974	+	Splice_Site	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:27760974T>C	ENST00000295743.4	-	3	1240		c.e3-2		EOMES_ENST00000449599.1_Splice_Site|EOMES_ENST00000537516.1_Splice_Site|EOMES_ENST00000461503.1_Splice_Site			O95936	EOMES_HUMAN	eomesodermin						CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TTTTGTTGCCTAAGAGAAAAT	0.398000													17	22					0	0	0.557998	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252107	26252107	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:26252107G>A	ENST00000356350.2	+	1	229	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	77					nucleosome assembly	nucleosome|nucleus	DNA binding	p.E77K(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CATCGCCGGCGAGGCTTCCCG	0.592000													36	83					0	0	0.804634	0	0
HTR1A	3350	broad.mit.edu	37	5	63256719	63256719	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:63256719G>T	ENST00000323865.3	-	1	1061	c.828C>A	c.(826-828)tgC>tgA	p.C276*	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	276					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CGCCATTGGCGCACAGAGCAC	0.657000													14	59					9.31168e-06	1.10347e-05	0.435327	1	0
CCL14	6358	broad.mit.edu	37	17	34311469	34311469	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:34311469T>A	ENST00000480944.2	-	1	2571	c.165A>T	c.(163-165)tcA>tcT	p.S55S	CCL14_ENST00000586216.1_Silent_p.S33S|CCL14_ENST00000536149.1_Silent_p.S49S|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000435911.2_Silent_p.S49S|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000394509.4_Silent_p.S33S			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	33					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCAGCACTCTGAGGGGTGGT	0.552000													19	39					0	0	0.592651	0	0
HIRA	7290	broad.mit.edu	37	22	19379649	19379649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:19379649C>A	ENST00000263208.5	-	9	1167	c.911G>T	c.(910-912)aGc>aTc	p.S304I	HIRA_ENST00000340170.4_Missense_Mutation_p.S304I|HIRA_ENST00000541063.1_Missense_Mutation_p.S260I|HIRA_ENST00000546308.1_Missense_Mutation_p.S260I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	304					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GCGGTCCTTGCTGCCAACAGC	0.493000													14	33					4.7546e-09	6.40043e-09	0.500413	1	0
SDK1	221935	broad.mit.edu	37	7	4281481	4281481	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:4281481G>T	ENST00000404826.2	+	43	6326	c.6187G>T	c.(6187-6189)Gcc>Tcc	p.A2063S	SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Missense_Mutation_p.A2043S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2063					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGGATTTGCTGCCCTGGAGCT	0.587000													8	27					1.76689e-08	2.33876e-08	0.335167	1	0
ST18	9705	broad.mit.edu	37	8	53062531	53062531	+	Missense_Mutation	SNP	C	C	T	rs144486751		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:53062531C>T	ENST00000276480.7	-	16	2496	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	605						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ACTTCTATTTCGGCTCCCTGG	0.398000													4	105					0	0	0.248553	0	0
MAD2L2	10459	broad.mit.edu	37	1	11736107	11736107	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:11736107G>A	ENST00000235310.3	-	8	1351	c.423C>T	c.(421-423)ccC>ccT	p.P141P	MAD2L2_ENST00000376672.1_Silent_p.P154P|MAD2L2_ENST00000376692.4_Silent_p.P141P|MAD2L2_ENST00000376669.5_Silent_p.P154P|MAD2L2_ENST00000376667.3_Silent_p.P141P			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	141	HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACACACCTGGGGGGTTGTGGT	0.577000								DNA polymerases (catalytic subunits)					16	34					0	0	0.592651	0	0
PRB2	653247	broad.mit.edu	37	12	11546699	11546699	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:11546699C>T	ENST00000389362.4	-	3	348	c.313G>A	c.(313-315)Gga>Aga	p.G105R	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACTTGTCTCCTTGTGGGGGT	0.607000													74	494					0	0	0.870114	0	0
IGFN1	91156	broad.mit.edu	37	1	201185763	201185763	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:201185763C>A	ENST00000335211.4	+	16	9607	c.9477C>A	c.(9475-9477)acC>acA	p.T3159T	IGFN1_ENST00000295591.8_Silent_p.T319T	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGACAGCACCACCTTCACGG	0.652000													31	42					3.90053e-15	6.13406e-15	0.760397	1	0
GRIA2	2891	broad.mit.edu	37	4	158281203	158281203	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:158281203T>A	ENST00000296526.7	+	13	2524	c.2199T>A	c.(2197-2199)atT>atA	p.I733I	GRIA2_ENST00000507898.1_Silent_p.I686I|GRIA2_ENST00000449365.1_Silent_p.I686I|GRIA2_ENST00000393815.2_Silent_p.I686I|GRIA2_ENST00000264426.9_Silent_p.I733I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	733					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACGAGTACATTGAGCAAAGGA	0.507000													16	34					0	0	0.520397	0	0
BUD13	84811	broad.mit.edu	37	11	116628652	116628652	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:116628652C>A	ENST00000260210.4	-	8	1537	c.1514G>T	c.(1513-1515)cGg>cTg	p.R505L	BUD13_ENST00000375445.3_Missense_Mutation_p.R371L	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	505										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)		TTGCTGTTGCCGGCTCTGGGC	0.468000													16	25					2.35188e-11	3.39365e-11	0.539581	1	0
TRPM6	140803	broad.mit.edu	37	9	77354770	77354770	+	Missense_Mutation	SNP	C	C	A	rs142946646		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:77354770C>A	ENST00000451710.3	-	33	5605	c.5368G>T	c.(5368-5370)Gtc>Ttc	p.V1790F	TRPM6_ENST00000376864.4_Missense_Mutation_p.V1790F|TRPM6_ENST00000376871.3_Missense_Mutation_p.V623F|TRPM6_ENST00000360774.1_Missense_Mutation_p.V1786F|TRPM6_ENST00000376872.3_Missense_Mutation_p.V741F|TRPM6_ENST00000449912.2_Missense_Mutation_p.V1781F|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1781F			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1786	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAAGTGCTGACGACTCTCATA	0.502000													15	33					2.61681e-11	3.76511e-11	0.457914	1	0
CERKL	375298	broad.mit.edu	37	2	182413481	182413481	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:182413481C>T	ENST00000410087.3	-	7	1099	c.999G>A	c.(997-999)ctG>ctA	p.L333L	CERKL_ENST00000409440.3_Silent_p.L315L|CERKL_ENST00000374969.2_Silent_p.L220L|CERKL_ENST00000374970.2_Silent_p.L264L|CERKL_ENST00000339098.5_Silent_p.L359L|CERKL_ENST00000479558.1_5'UTR	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	359	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATTTTTCTGCCAGAGCCAAAG	0.453000													8	50					0	0	0.278610	0	0
CEP57	9702	broad.mit.edu	37	11	95555060	95555060	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:95555060G>C	ENST00000325542.5	+	7	963	c.725G>C	c.(724-726)aGa>aCa	p.R242T	CEP57_ENST00000537677.1_Missense_Mutation_p.R215T|CEP57_ENST00000325486.5_Missense_Mutation_p.R242T|CEP57_ENST00000541150.1_Missense_Mutation_p.R233T|CEP57_ENST00000538658.1_Missense_Mutation_p.R242T	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	242					fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAAACAAATAGACTTATCTTT	0.363000									Mosaic Variegated Aneuploidy Syndrome				9	13					0	0	0.361761	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89986975	89986975	+	RNA	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:89986975A>G	ENST00000491977.1	+	0	286																											AGTGCCAGATAGGTTCAGTGG	0.502000													20	50					0	0	0.624587	0	0
GNL1	2794	broad.mit.edu	37	6	30521208	30521208	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:30521208G>A	ENST00000376621.3	-	6	1697	c.727C>T	c.(727-729)Cat>Tat	p.H243Y		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	243					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TAGTGTTGATGGAAATAATGC	0.552000													33	77					0	0	0.804634	0	0
ANK1	286	broad.mit.edu	37	8	41580669	41580669	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:41580669C>A	ENST00000396942.1	-	9	966	c.883G>T	c.(883-885)Ggg>Tgg	p.G295W	ANK1_ENST00000265709.8_Missense_Mutation_p.G328W|ANK1_ENST00000352337.4_Missense_Mutation_p.G295W|ANK1_ENST00000396945.1_Missense_Mutation_p.G295W|ANK1_ENST00000347528.4_Missense_Mutation_p.G295W|ANK1_ENST00000379758.2_Missense_Mutation_p.G295W|ANK1_ENST00000289734.7_Missense_Mutation_p.G295W			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	295	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.G295W(1)|p.G328W(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATTGGTGCCCCGTGGTCCAGC	0.502000													23	70					1.16021e-09	1.60047e-09	0.717897	1	0
KIAA0020	9933	broad.mit.edu	37	9	2834129	2834129	+	Silent	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:2834129T>C	ENST00000397885.2	-	4	548	c.342A>G	c.(340-342)aaA>aaG	p.K114K		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	114						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCTTCTTCTTTTTGAAGTCAT	0.348000													7	6					0	0	0.307466	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			8	18					5.16669e-11	7.38449e-11	0.387290	1	0
RP1L1	94137	broad.mit.edu	37	8	10469310	10469310	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:10469310C>A	ENST00000382483.3	-	4	2521	c.2298G>T	c.(2296-2298)gcG>gcT	p.A766A		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	766					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCTGGACCCCGCGTCCCCTG	0.657000													25	47					1.42536e-11	2.08066e-11	0.681144	1	0
TTC21B	79809	broad.mit.edu	37	2	166747379	166747379	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:166747379C>T	ENST00000243344.7	-	23	3207	c.3070G>A	c.(3070-3072)Gga>Aga	p.G1024R		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1024						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TACTGAAATCCTGGTTCCAAT	0.333000													6	41					0	0	0.217242	0	0
IHH	3549	broad.mit.edu	37	2	219920417	219920417	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:219920417C>A	ENST00000295731.5	-	3	747	c.748G>T	c.(748-750)Gag>Tag	p.E250*		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	250					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTGAGGCTCGCGGTCCAGG	0.642000													26	13					2.85442e-18	4.74161e-18	0.750413	1	0
TUBA3E	112714	broad.mit.edu	37	2	130949494	130949494	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:130949494G>T	ENST00000312988.7	-	5	1363	c.1263C>A	c.(1261-1263)gcC>gcA	p.A421A		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	421					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GGTCCTCGCGGGCCTCAGAGA	0.587000													36	211					8.69298e-16	1.39032e-15	0.827153	1	0
POLE	5426	broad.mit.edu	37	12	133212492	133212492	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:133212492T>C	ENST00000320574.5	-	42	5840	c.5797A>G	c.(5797-5799)Att>Gtt	p.I1933V	POLE_ENST00000535270.1_Missense_Mutation_p.I1906V|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1933					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCACAGTGAATACGAGATGAA	0.517000								DNA polymerases (catalytic subunits)					15	29					0	0	0.557998	0	0
HOXA13	3209	broad.mit.edu	37	7	27237955	27237955	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:27237955C>A	ENST00000222753.4	-	2	1057	c.1029G>T	c.(1027-1029)acG>acT	p.T343T		NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	343					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TGAATTTATTCGTGGCGTATT	0.498000			T	NUP98	AML						OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	42	109					2.52991e-16	4.0897e-16	0.870114	1	0
ST3GAL3	6487	broad.mit.edu	37	1	44386213	44386213	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:44386213G>T	ENST00000262915.3	+	11	1266	c.1089G>T	c.(1087-1089)atG>atT	p.M363I	ST3GAL3_ENST00000372375.2_Missense_Mutation_p.M348I|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.M263I|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.M294I|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.M348I|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.M263I|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.M278I|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.W216L|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.M332I|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.M363I|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.M332I|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.M264I|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.M309I|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000545417.1_Intron	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	294					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				ATGGCCTCATGGGCCGGGGGG	0.607000													15	35					1.56452e-12	2.34289e-12	0.557998	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95514962	95514962	+	RNA	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:95514962C>A	ENST00000432432.2	-	0	695					NR_040113.1																						AGCCTATCAACGGCATGTGTA	0.323000													22	83					2.70639e-06	3.27949e-06	0.624587	1	0
CHRNA5	1138	broad.mit.edu	37	15	78882901	78882901	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:78882901A>G	ENST00000299565.5	+	5	1368	c.1168A>G	c.(1168-1170)Aga>Gga	p.R390G	RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	390					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						AAAATCTTCTAGAAACACATT	0.418000													14	25					0	0	0.500413	0	0
GPR158	57512	broad.mit.edu	37	10	25883266	25883266	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:25883266G>T	ENST00000376351.3	+	9	2297	c.1938G>T	c.(1936-1938)ctG>ctT	p.L646L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	646						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTTGATGCTGTATTTTGCAC	0.323000													26	55					5.91797e-21	1.01441e-20	0.760397	1	0
DLG5	9231	broad.mit.edu	37	10	79576327	79576327	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:79576327C>A	ENST00000372391.2	-	20	4012	c.4007G>T	c.(4006-4008)gGg>gTg	p.G1336V	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.G996V	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1336					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCTCCGCTCCCCGAGGGACGC	0.627000													27	83					2.85442e-18	4.74161e-18	0.750413	1	0
SMARCAD1	56916	broad.mit.edu	37	4	95198255	95198255	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:95198255C>T	ENST00000354268.4	+	16	2100	c.2027C>T	c.(2026-2028)cCa>cTa	p.P676L	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.P676L|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.P246L			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	676	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTTGTTATGCCACACATGTTT	0.368000													26	81					0	0	0.740014	0	0
OR4A15	81328	broad.mit.edu	37	11	55136164	55136164	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55136164G>T	ENST00000314706.3	+	1	805	c.805G>T	c.(805-807)Gca>Tca	p.A269S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A269S(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTACACCTGTGCATCCCACGT	0.423000													29	61					9.39395e-14	1.43386e-13	0.706142	1	0
C12orf40	283461	broad.mit.edu	37	12	40076933	40076933	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:40076933G>A	ENST00000324616.5	+	8	1361	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	C12orf40_ENST00000405531.3_Missense_Mutation_p.E403K|C12orf40_ENST00000398716.1_Missense_Mutation_p.E326K	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	403										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAGCAGCTCTGAAAGAAAAGG	0.289000													14	22					0	0	0.539581	0	0
GRN	2896	broad.mit.edu	37	17	42429545	42429545	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:42429545A>G	ENST00000053867.3	+	11	1404	c.1342A>G	c.(1342-1344)Acc>Gcc	p.T448A	GRN_ENST00000589265.1_Missense_Mutation_p.T291A	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	448					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGACCAGCACACCAGCTGCCC	0.667000													24	113					0	0	0.717897	0	0
BPTF	2186	broad.mit.edu	37	17	65871764	65871764	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:65871764G>A	ENST00000321892.4	+	5	2018	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	BPTF_ENST00000335221.5_Missense_Mutation_p.E653K|BPTF_ENST00000306378.6_Intron|BPTF_ENST00000424123.3_Missense_Mutation_p.E514K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	653	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAGTCCCTCTGAAGGGAGGAG	0.522000													11	39					0	0	0.411799	0	0
ALPI	248	broad.mit.edu	37	2	233321707	233321707	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:233321707A>T	ENST00000295463.3	+	4	476	c.399A>T	c.(397-399)gcA>gcT	p.A133A		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	133					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCTTGAGTGCAGCCGCCCGCT	0.617000													6	46					0	0	0.248553	0	0
NFIB	4781	broad.mit.edu	37	9	14307439	14307439	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:14307439T>A	ENST00000380959.3	-	2	584	c.111A>T	c.(109-111)cgA>cgT	p.R37R	NFIB_ENST00000397575.3_Silent_p.R37R|NFIB_ENST00000397579.2_Silent_p.R37R|NFIB_ENST00000397581.2_Silent_p.R37R|NFIB_ENST00000380953.1_Silent_p.R37R|NFIB_ENST00000380921.3_Silent_p.R37R|NFIB_ENST00000380934.4_Silent_p.R63R	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	37					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		ACTTGCGTTTTCGAGCCTGCA	0.443000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								16	10					0	0	0.520397	0	0
MYO1A	4640	broad.mit.edu	37	12	57435270	57435270	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:57435270C>A	ENST00000442789.2	-	14	1397	c.1110G>T	c.(1108-1110)ggG>ggT	p.G370G	MYO1A_ENST00000300119.3_Silent_p.G370G|MYO1A_ENST00000544473.1_Silent_p.G208G	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	370	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCTTCTTTTCCCCGATGCCCA	0.537000													9	57					1.58986e-06	1.95486e-06	0.361761	1	0
TRIM29	23650	broad.mit.edu	37	11	120008148	120008148	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:120008148G>A	ENST00000341846.5	-	1	1013	c.592C>T	c.(592-594)Cat>Tat	p.H198Y		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	198					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGCTTGAGATGCAGCTCGCAG	0.652000													9	17					0	0	0.361761	0	0
PGC	5225	broad.mit.edu	37	6	41704680	41704680	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:41704680G>T	ENST00000373025.3	-	9	1139	c.1077C>A	c.(1075-1077)ccC>ccA	p.P359P		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	359					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGATCCACAGGGGCTGGCCGT	0.567000													16	18					2.5808e-16	4.16749e-16	0.539581	1	0
DENND2A	27147	broad.mit.edu	37	7	140221738	140221738	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:140221738C>T	ENST00000275884.6	-	17	3245	c.2828G>A	c.(2827-2829)cGc>cAc	p.R943H	DENND2A_ENST00000537639.1_Missense_Mutation_p.R943H|DENND2A_ENST00000496613.1_Missense_Mutation_p.R943H			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	943	dDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAGGAAGTGGCGGAGGCTCTT	0.602000													6	33					0	0	0.248553	0	0
TACR1	6869	broad.mit.edu	37	2	75278480	75278480	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:75278480A>T	ENST00000305249.4	-	4	1595	c.830T>A	c.(829-831)cTc>cAc	p.L277H	TACR1_ENST00000409848.3_Missense_Mutation_p.L277H	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	277					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CTTCAGGTAGAGATCTGGGTT	0.527000													34	87					0	0	0.779181	0	0
MTCH1	23787	broad.mit.edu	37	6	36938181	36938181	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:36938181C>A	ENST00000373627.5	-	10	1147		c.e10+1		MTCH1_ENST00000538808.1_Splice_Site|MTCH1_ENST00000373616.5_Splice_Site|MTCH1_ENST00000471737.1_Splice_Site	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1						activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CGCACACCTACCCGCAGTTGT	0.612000													35	83					9.39024e-22	1.63002e-21	0.847076	1	0
ACOT7	11332	broad.mit.edu	37	1	6341241	6341241	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:6341241C>G	ENST00000361521.4	-	8	1926	c.935G>C	c.(934-936)cGc>cCc	p.R312P	ACOT7_ENST00000545482.1_Missense_Mutation_p.R207P|ACOT7_ENST00000377842.3_Missense_Mutation_p.R271P|ACOT7_ENST00000377845.3_Missense_Mutation_p.R292P|ACOT7_ENST00000377855.2_Missense_Mutation_p.R322P	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	322	Acyl coenzyme A hydrolase 2.					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GGCCCGGTAGCGCTTCTGAGA	0.607000											OREG0013034	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	35					0	0	0.387290	0	0
MCM7	4176	broad.mit.edu	37	7	99695832	99695832	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:99695832C>T	ENST00000303887.5	-	7	1447	c.802G>A	c.(802-804)Gga>Aga	p.G268R	MCM7_ENST00000354230.3_Missense_Mutation_p.G92R|MCM7_ENST00000343023.6_Missense_Mutation_p.G268R	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	268					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	ACGTGGTCTCCAGGCTGGGCA	0.527000													9	30					0	0	0.335167	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21355455	21355455	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:21355455G>T	ENST00000256958.2	+	10	1262	c.1166G>T	c.(1165-1167)gGa>gTa	p.G389V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	389					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTGCAAGTGGAATGTTTTTA	0.299000													8	24					0.000274275	0.000303965	0.307466	1	0
KRTAP19-2	337969	broad.mit.edu	37	21	31859618	31859618	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr21:31859618T>C	ENST00000334055.3	-	1	137	c.50A>G	c.(49-51)tAt>tGt	p.Y17C		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	17						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCCGCAGCCATAGCCCAGTCT	0.557000													5	190					0	0	0.217242	0	0
TIAF1	9220	broad.mit.edu	37	17	27401991	27401991	+	Translation_Start_Site	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:27401991C>T	ENST00000359450.6	-	0	3884				MYO18A_ENST00000531253.1_Intron|MYO18A_ENST00000529578.1_Intron|MYO18A_ENST00000533112.1_Intron|MYO18A_ENST00000527372.1_Intron|TIAF1_ENST00000408971.2_Intron|MYO18A_ENST00000354329.4_Intron	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1						anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TAAGCACGCACGCCTTTGGTT	0.507000													6	23					0	0	0.217242	0	0
SSH2	85464	broad.mit.edu	37	17	27958225	27958225	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:27958225C>A	ENST00000269033.3	-	15	4057	c.3906G>T	c.(3904-3906)atG>atT	p.M1302I	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.M1329I	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1302					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTGGTCCTCCATCGCGTGCA	0.522000													15	54					3.99206e-14	6.15579e-14	0.557998	1	0
ASB18	401036	broad.mit.edu	37	2	237172851	237172851	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:237172851C>T	ENST00000409749.3	-	1	137	c.138G>A	c.(136-138)gtG>gtA	p.V46V	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	46					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CCAGTTCTATCACAGCGTCCA	0.512000													8	35					0	0	0.278610	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31725979	31725979	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:31725979G>T	ENST00000493662.2	+	13	1159	c.1103G>T	c.(1102-1104)cGc>cTc	p.R368L	MSH5_ENST00000375750.3_Missense_Mutation_p.R351L|MSH5_ENST00000534153.4_Missense_Mutation_p.R368L|MSH5_ENST00000375755.3_Missense_Mutation_p.R351L|MSH5_ENST00000375703.3_Missense_Mutation_p.R351L|MSH5_ENST00000375742.3_Missense_Mutation_p.R368L|MSH5_ENST00000431848.2_Missense_Mutation_p.R50L|MSH5_ENST00000375740.3_Missense_Mutation_p.R368L|MSH5_ENST00000395853.1_Missense_Mutation_p.R25L																							GATGCCTGCCGCTCCCTGCCG	0.562000													6	51					8.12818e-05	9.2046e-05	0.248553	1	0
AP1G1	164	broad.mit.edu	37	16	71823291	71823291	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:71823291C>A	ENST00000299980.4	-	2	533	c.92G>T	c.(91-93)tGt>tTt	p.C31F	AP1G1_ENST00000570297.1_5'UTR|AP1G1_ENST00000433195.2_Missense_Mutation_p.C54F|AP1G1_ENST00000423132.2_Missense_Mutation_p.C31F|AP1G1_ENST00000393512.3_Missense_Mutation_p.C31F|AP1G1_ENST00000569748.1_Missense_Mutation_p.C31F	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	31					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GATTGCAGCACATTCTTTCTG	0.502000													20	52					9.57634e-11	1.3571e-10	0.654019	1	0
FBXO33	254170	broad.mit.edu	37	14	39900943	39900943	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:39900943C>T	ENST00000298097.7	-	1	761	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	FBXO33_ENST00000554190.1_Missense_Mutation_p.E14K	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	142										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		GCGGCGAATTCAACACGCAGC	0.687000													19	29					0	0	0.639603	0	0
G2E3	55632	broad.mit.edu	37	14	31066645	31066645	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:31066645G>T	ENST00000206595.6	+	7	702	c.548G>T	c.(547-549)gGa>gTa	p.G183V	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.G213V|G2E3_ENST00000438909.2_Missense_Mutation_p.G137V	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	183					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATAAATGCGGGAGTGTTTTTC	0.313000													33	110					2.52637e-11	3.64195e-11	0.812448	1	0
NFASC	23114	broad.mit.edu	37	1	204938072	204938072	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:204938072T>A	ENST00000367172.4	+	10	1293	c.965T>A	c.(964-966)aTg>aAg	p.M322K	NFASC_ENST00000539706.1_Missense_Mutation_p.M333K|NFASC_ENST00000404907.1_Missense_Mutation_p.M333K|NFASC_ENST00000401399.1_Missense_Mutation_p.M322K|NFASC_ENST00000403080.1_Missense_Mutation_p.M322K|NFASC_ENST00000367169.4_Missense_Mutation_p.M322K|NFASC_ENST00000360049.4_Missense_Mutation_p.M333K|NFASC_ENST00000404076.1_Missense_Mutation_p.M316K|NFASC_ENST00000338586.6_Missense_Mutation_p.M322K|NFASC_ENST00000339876.6_Missense_Mutation_p.M322K|NFASC_ENST00000338515.6_Missense_Mutation_p.M322K|NFASC_ENST00000367171.4_Missense_Mutation_p.M322K|NFASC_ENST00000513543.1_Missense_Mutation_p.M333K|NFASC_ENST00000367170.4_Missense_Mutation_p.M322K			O94856	NFASC_HUMAN	neurofascin	322	Ig-like C2-type 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCCAACAAGATGGGCAGCATC	0.478000													26	46					0	0	0.760397	0	0
MAP3K13	9175	broad.mit.edu	37	3	185191263	185191263	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:185191263A>G	ENST00000265026.3	+	11	2478	c.2144A>G	c.(2143-2145)aAg>aGg	p.K715R	MAP3K13_ENST00000446828.1_Missense_Mutation_p.K508R|MAP3K13_ENST00000535426.1_Missense_Mutation_p.K571R|MAP3K13_ENST00000443863.1_Missense_Mutation_p.K571R|MAP3K13_ENST00000424227.1_Missense_Mutation_p.K715R	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	715					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAGCCTGACAAGGGCCAAGCT	0.597000													23	53					0	0	0.706142	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815550	56815550	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:56815550C>A	ENST00000229201.4	-	22	2837	c.2683G>T	c.(2683-2685)Gag>Tag	p.E895*	TIMELESS_ENST00000553532.1_Nonsense_Mutation_p.E896*|TIMELESS_ENST00000554616.1_Nonsense_Mutation_p.E393*	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	896					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CGCTGCAGCTCCAACTCCTGA	0.498000													21	109					2.65835e-16	4.28352e-16	0.717897	1	0
KCNH6	81033	broad.mit.edu	37	17	61607486	61607486	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:61607486C>A	ENST00000583023.1	+	3	353	c.342C>A	c.(340-342)ccC>ccA	p.P114P	KCNH6_ENST00000314672.5_Silent_p.P114P|KCNH6_ENST00000581784.1_Silent_p.P114P|KCNH6_ENST00000580652.1_Silent_p.P114P|KCNH6_ENST00000456941.2_Silent_p.P114P	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	114	PAC.				regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ATGTGGTGCCCGTGAAGAACG	0.642000													17	92					1.15919e-05	1.36295e-05	0.575678	1	0
SYTL4	94121	broad.mit.edu	37	X	99955908	99955908	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:99955908C>A	ENST00000372981.1	-	5	710	c.524G>T	c.(523-525)cGg>cTg	p.R175L	SYTL4_ENST00000263033.5_Missense_Mutation_p.R175L|SYTL4_ENST00000455616.1_Missense_Mutation_p.R175L|SYTL4_ENST00000276141.6_Missense_Mutation_p.R175L|SYTL4_ENST00000454200.2_Missense_Mutation_p.R175L|SYTL4_ENST00000372989.1_Missense_Mutation_p.R175L			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	175					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCCTTCTGCCGCTCCTGAAT	0.388000													20	23					2.79863e-10	3.92173e-10	0.681144	1	0
CSNK1D	1453	broad.mit.edu	37	17	80231254	80231254	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:80231254C>G	ENST00000314028.6	-	1	353	c.4G>C	c.(4-6)Gag>Cag	p.E2Q	CSNK1D_ENST00000392334.2_Missense_Mutation_p.E2Q|CSNK1D_ENST00000398519.5_Missense_Mutation_p.E2Q	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	2					circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			ACTCTCAGCTCCATGGCGGCG	0.731000													3	21					0	0	0.184627	0	0
SMAP2	64744	broad.mit.edu	37	1	40882507	40882507	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:40882507C>T	ENST00000539317.1	+	9	856	c.663C>T	c.(661-663)ccC>ccT	p.P221P		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	301	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CCAGCTTCCCCGGGGTTACAC	0.542000													7	42					0	0	0.307466	0	0
DFFB	1677	broad.mit.edu	37	1	3775365	3775365	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:3775365C>T	ENST00000378209.3	+	2	521	c.198C>T	c.(196-198)aaC>aaT	p.N66N	DFFB_ENST00000341385.3_Silent_p.N66N|DFFB_ENST00000378212.2_Silent_p.N66N|DFFB_ENST00000338895.3_Silent_p.N66N	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	66	CIDE-N.				apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding	p.N66N(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TTCCCGACAACGCCGAGCTGG	0.652000													4	41					0	0	0.184627	0	0
COL22A1	169044	broad.mit.edu	37	8	139620186	139620186	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:139620186C>A	ENST00000303045.6	-	57	4471	c.4025G>T	c.(4024-4026)gGa>gTa	p.G1342V	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1322V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1342	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CACAGGGGTTCCTGAAGGGCC	0.542000										HNSCC(7;0.00092)			21	67					2.27731e-05	2.63845e-05	0.608945	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77401560	77401560	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:77401560C>A	ENST00000282849.5	-	4	974	c.556G>T	c.(556-558)Gcc>Tcc	p.A186S	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	186					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGTTCCTGGGCCAGAAGCTGA	0.493000													17	59					5.26018e-13	7.97237e-13	0.608945	1	0
OR56A1	120796	broad.mit.edu	37	11	6048549	6048549	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:6048549C>A	ENST00000316650.5	-	1	422	c.386G>T	c.(385-387)cGt>cTt	p.R129L		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCACATAACGGTCATAGGC	0.507000													9	37					5.4927e-09	7.38082e-09	0.307466	1	0
IL18RAP	8807	broad.mit.edu	37	2	103053770	103053770	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:103053770G>A	ENST00000264260.2	+	6	1267	c.678G>A	c.(676-678)tcG>tcA	p.S226S	IL18RAP_ENST00000409369.1_Silent_p.S84S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	226	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACACTCAGTCGGATACTGTGA	0.413000													11	62					0	0	0.411799	0	0
OR10A2	341276	broad.mit.edu	37	11	6891001	6891001	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:6891001C>A	ENST00000307322.4	+	1	78	c.16C>A	c.(16-18)Ctg>Atg	p.L6M		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTCTCTTCCCTGCCTACTGA	0.443000													28	149					7.11191e-15	1.11031e-14	0.769981	1	0
SSFA2	6744	broad.mit.edu	37	2	182783599	182783599	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:182783599G>A	ENST00000431877.2	+	13	3162	c.2983G>A	c.(2983-2985)Gag>Aag	p.E995K	SSFA2_ENST00000409136.1_Missense_Mutation_p.E504K|SSFA2_ENST00000320370.7_Missense_Mutation_p.E995K|SSFA2_ENST00000409001.1_Missense_Mutation_p.E995K|SSFA2_ENST00000428267.2_Missense_Mutation_p.E842K|SSFA2_ENST00000467172.2_3'UTR	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	995						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCATATGACTGAGGAGGAGAG	0.358000													17	44					0	0	0.592651	0	0
MYF5	4617	broad.mit.edu	37	12	81111177	81111177	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:81111177C>A	ENST00000228644.3	+	1	487	c.335C>A	c.(334-336)aCc>aAc	p.T112N		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	112	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.T112N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGTACCACGACCAACCCCAAC	0.592000													16	30					4.63292e-17	7.57886e-17	0.575678	1	0
KRT5	3852	broad.mit.edu	37	12	52912779	52912779	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:52912779C>G	ENST00000252242.4	-	2	1111	c.721G>C	c.(721-723)Gac>Cac	p.D241H		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	241	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCTCTGAGTCCAGGCGGCCC	0.577000													22	124					0	0	0.639603	0	0
OR2A2	442361	broad.mit.edu	37	7	143807247	143807247	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:143807247C>T	ENST00000408979.2	+	1	641	c.572C>T	c.(571-573)aCc>aTc	p.T191I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGTGCTGACACCTGGGTTAAC	0.512000													54	115					0	0	0.870114	0	0
ZNF583	147949	broad.mit.edu	37	19	56935118	56935118	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:56935118G>T	ENST00000333201.9	+	5	1301	c.1091G>T	c.(1090-1092)cGt>cTt	p.R364L	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.R364L	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TTTAGCCATCGTGGATACCTA	0.423000													47	30					1.83081e-24	3.24543e-24	0.870114	1	0
GH1	2688	broad.mit.edu	37	17	61994765	61994765	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:61994765G>A	ENST00000323322.5	-	5	600	c.558C>T	c.(556-558)taC>taT	p.Y186Y	GH1_ENST00000342364.4_Silent_p.Y91Y|GH1_ENST00000458650.2_Silent_p.Y171Y|GH1_ENST00000351388.4_Silent_p.Y146Y|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	186					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						AGAGCAGCCCGTAGTTCTTGA	0.567000													28	131					0	0	0.760397	0	0
GATA6	2627	broad.mit.edu	37	18	19751152	19751152	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:19751152C>A	ENST00000269216.3	+	2	324	c.47C>A	c.(46-48)gCc>gAc	p.A16D	GATA6_ENST00000581694.1_Missense_Mutation_p.A16D	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	16					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CGCTTCGGGGCCGCGGGTGCG	0.716000													10	18					3.86212e-05	4.42688e-05	0.361761	1	0
ZNF570	148268	broad.mit.edu	37	19	37975292	37975292	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:37975292C>T	ENST00000330173.1	+	5	1297	c.768C>T	c.(766-768)agC>agT	p.S256S	ZNF570_ENST00000586475.1_Silent_p.S312S|ZNF570_ENST00000388801.3_Silent_p.S53S	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGCCTTCAGCCAGAGATCAA	0.398000													30	101					0	0	0.750413	0	0
ANO7	50636	broad.mit.edu	37	2	242155594	242155594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:242155594G>A	ENST00000274979.8	+	19	2178	c.2075G>A	c.(2074-2076)tGg>tAg	p.W692*	ANO7_ENST00000402430.3_Nonsense_Mutation_p.W691*	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	692						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CAGGGGCCCTGGGAGGACGAC	0.617000													3	15					0	0	0.115264	0	0
THEMIS	387357	broad.mit.edu	37	6	128134779	128134779	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:128134779G>T	ENST00000368250.1	-	5	1268	c.770C>A	c.(769-771)aCt>aAt	p.T257N	THEMIS_ENST00000543064.1_Missense_Mutation_p.T336N|THEMIS_ENST00000537166.1_Missense_Mutation_p.T301N|THEMIS_ENST00000368248.2_Missense_Mutation_p.T336N			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	336	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTTATAGCTAGTGGGGATCAA	0.468000													11	41					0.000151284	0.000170422	0.435327	1	0
MRGPRX4	117196	broad.mit.edu	37	11	18194994	18194994	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:18194994A>G	ENST00000314254.3	+	1	611	c.191A>G	c.(190-192)tAc>tGc	p.Y64C	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	64						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GTCTCCATCTACATCCTCAAC	0.537000													8	44					0	0	0.307466	0	0
UNC80	285175	broad.mit.edu	37	2	210642116	210642116	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:210642116A>T	ENST00000439458.1	+	4	513	c.433A>T	c.(433-435)Agc>Tgc	p.S145C	UNC80_ENST00000272845.5_Missense_Mutation_p.S145C|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	145						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GGGTGGAAGCAGCAGTGCTTT	0.547000													7	37					0	0	0.278610	0	0
LAMB3	3914	broad.mit.edu	37	1	209791292	209791292	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:209791292G>A	ENST00000391911.1	-	19	3400	c.3011C>T	c.(3010-3012)aCc>aTc	p.T1004I	LAMB3_ENST00000356082.4_Missense_Mutation_p.T1004I|LAMB3_ENST00000367030.3_Missense_Mutation_p.T1004I	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1004	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGAGCGGCTGGTGCCTTGCAT	0.587000													27	98					0	0	0.750413	0	0
CPA4	51200	broad.mit.edu	37	7	129938612	129938612	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:129938612G>A	ENST00000222482.4	+	2	123	c.95G>A	c.(94-96)aGa>aAa	p.R32K	CPA4_ENST00000445470.2_Missense_Mutation_p.R32K|CPA4_ENST00000493259.1_Intron	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	32					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					ATTAATGTCAGAAATGGAGAC	0.408000													11	30					0	0	0.457914	0	0
DGKB	1607	broad.mit.edu	37	7	14378244	14378244	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:14378244C>A	ENST00000403951.2	-	23	2440	c.2021G>T	c.(2020-2022)tGg>tTg	p.W674L	DGKB_ENST00000258767.5_Missense_Mutation_p.W674L|DGKB_ENST00000406247.3_Missense_Mutation_p.W674L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.W674L|DGKB_ENST00000444700.2_Missense_Mutation_p.W655L|DGKB_ENST00000407950.1_Missense_Mutation_p.W666L|DGKB_ENST00000402815.1_Missense_Mutation_p.W673L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	674					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	AGACTCTCCCCAAAGATTGGA	0.413000													14	38					1.52009e-12	2.28545e-12	0.479597	1	0
TSSC2	650368	broad.mit.edu	37	11	3430124	3430124	+	RNA	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:3430124C>A	ENST00000529482.1	+	0	2253																											CAGGGCAAATCCTTTCGAGCA	0.557000													5	12					0.217242	0.22002	0.217242	1	0
PDE1B	5153	broad.mit.edu	37	12	54968998	54968998	+	Missense_Mutation	SNP	G	G	T	rs143206355		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:54968998G>T	ENST00000243052.3	+	11	1617	c.1181G>T	c.(1180-1182)cGt>cTt	p.R394L	PDE1B_ENST00000550620.1_Missense_Mutation_p.R374L|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.R353L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	394	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GAATTCTTCCGTCAGGTAGCG	0.572000													17	54					7.33628e-21	1.25467e-20	0.624587	1	0
USH2A	7399	broad.mit.edu	37	1	216595579	216595579	+	Silent	SNP	G	G	T	rs141672841	by1000genomes	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:216595579G>T	ENST00000366943.2	-	2	486	c.100C>A	c.(100-102)Cga>Aga	p.R34R	USH2A_ENST00000307340.3_Silent_p.R34R|USH2A_ENST00000366942.3_Silent_p.R34R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	34					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAAAGACCTCGTGACTCAGTC	0.458000										HNSCC(13;0.011)			18	65					1.37522e-17	2.26942e-17	0.557998	1	0
FBXL7	23194	broad.mit.edu	37	5	15936592	15936592	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:15936592G>T	ENST00000504595.1	+	4	1254	c.773G>T	c.(772-774)cGg>cTg	p.R258L	FBXL7_ENST00000329673.7_Missense_Mutation_p.R246L|FBXL7_ENST00000510662.1_Missense_Mutation_p.R211L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	258					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGCTTGACCCGGGAGGCCTCC	0.582000													11	22					1.08611e-07	1.38878e-07	0.387290	1	0
SYT5	6861	broad.mit.edu	37	19	55686584	55686584	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:55686584G>T	ENST00000354308.3	-	6	1033	c.664C>A	c.(664-666)Cca>Aca	p.P222T	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.P222T|SYT5_ENST00000590851.1_Missense_Mutation_p.P219T	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	222					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCCTGCACTGGCCGCCCCAGG	0.716000													12	6					9.31168e-06	1.10347e-05	0.435327	1	0
SCAND3	114821	broad.mit.edu	37	6	28541251	28541251	+	Missense_Mutation	SNP	T	T	A	rs141088775	by1000genomes	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:28541251T>A	ENST00000452236.2	-	4	3032	c.2415A>T	c.(2413-2415)caA>caT	p.Q805H		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	805					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						cctgctttggttggcttttca	0.343000													12	37					0	0	0.457914	0	0
CHRM2	1129	broad.mit.edu	37	7	136700860	136700860	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:136700860C>A	ENST00000445907.2	+	3	1776	c.1248C>A	c.(1246-1248)tgC>tgA	p.C416*	AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Nonsense_Mutation_p.C416*|CHRM2_ENST00000397608.3_Nonsense_Mutation_p.C416*|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000320658.5_Nonsense_Mutation_p.C416*|CHRM2_ENST00000402486.3_Nonsense_Mutation_p.C416*|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Nonsense_Mutation_p.C416*|AC009264.1_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	416					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTGCACCTTGCATCCCCAACA	0.458000													55	109					2.36135e-34	4.37126e-34	0.870114	1	0
CSNK1D	1453	broad.mit.edu	37	17	80231249	80231249	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:80231249C>T	ENST00000314028.6	-	1	358	c.9G>A	c.(7-9)ctG>ctA	p.L3L	CSNK1D_ENST00000392334.2_Silent_p.L3L|CSNK1D_ENST00000398519.5_Silent_p.L3L	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	3					circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			TCCCGACTCTCAGCTCCATGG	0.726000													3	20					0	0	0.184627	0	0
CLRN2	645104	broad.mit.edu	37	4	17516969	17516969	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:17516969C>G	ENST00000511148.2	+	1	182	c.80C>G	c.(79-81)gCc>gGc	p.A27G		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	27						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						ATCATCGTTGCCCTGGTAGTG	0.542000													9	39					0	0	0.335167	0	0
EVC2	132884	broad.mit.edu	37	4	5624387	5624387	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:5624387C>A	ENST00000310917.2	-	14	2869	c.2138G>T	c.(2137-2139)gGg>gTg	p.G713V	EVC2_ENST00000344408.5_Missense_Mutation_p.G793V|EVC2_ENST00000344938.1_Missense_Mutation_p.G793V	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	793						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCTCTCCTCCCCCTCCAGCTG	0.657000													10	36					5.50884e-06	6.55918e-06	0.411799	1	0
FBXL6	26233	broad.mit.edu	37	8	145579728	145579728	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:145579728C>G	ENST00000331890.5	-	8	1436	c.1372G>C	c.(1372-1374)Gag>Cag	p.E458Q	FBXL6_ENST00000455319.2_Missense_Mutation_p.E452Q|FBXL6_ENST00000526524.1_Intron	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	458					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGGGCCTGCTCCAGGTCCTTC	0.607000													21	88					0	0	0.681144	0	0
ABCA11P	79963	broad.mit.edu	37	4	420315	420315	+	RNA	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:420315G>C	ENST00000451020.2	-	0	723					NR_002451.2																						GAGTTCTCCTGAGGGCAGTAC	0.493000													16	39					0	0	0.520397	0	0
TTN	7273	broad.mit.edu	37	2	179638602	179638602	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179638602G>T	ENST00000589042.1	-	31	7517	c.7293C>A	c.(7291-7293)gcC>gcA	p.A2431A	TTN_ENST00000359218.5_Silent_p.A2385A|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.A2385A|TTN_ENST00000342992.6_Silent_p.A2431A|TTN_ENST00000342175.6_Silent_p.A2385A|TTN_ENST00000360870.5_Silent_p.A2431A|TTN_ENST00000591111.1_Silent_p.A2431A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2153	Ig-like 13.|Ig-like 14.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGGCCAAGGGCTGGAATGG	0.403000													13	102					6.31663e-08	8.20235e-08	0.479597	1	0
EPB41L4B	54566	broad.mit.edu	37	9	112018505	112018505	+	Splice_Site	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:112018505C>T	ENST00000374566.3	-	9	1358		c.e9-1		EPB41L4B_ENST00000374557.4_Splice_Site	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B							cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATCTCTTCCCTACAAACAAA	0.393000													22	30					0	0	0.667858	0	0
RYR1	6261	broad.mit.edu	37	19	38969098	38969098	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:38969098T>A	ENST00000355481.4	+	31	4609	c.4478T>A	c.(4477-4479)aTg>aAg	p.M1493K	RYR1_ENST00000360985.3_Missense_Mutation_p.M1493K|RYR1_ENST00000359596.3_Missense_Mutation_p.M1493K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1493	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AACTGCTACATGGTGTGGGGC	0.602000													15	46					0	0	0.520397	0	0
TFAP2A	7020	broad.mit.edu	37	6	10398806	10398806	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:10398806G>A	ENST00000379613.3	-	7	1420	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	TFAP2A_ENST00000482890.1_Silent_p.F386F|TFAP2A_ENST00000379608.3_Silent_p.F380F|TFAP2A_ENST00000319516.4_Silent_p.F382F|TFAP2A_ENST00000379604.2_Silent_p.F386F			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	386	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CGGGGCTGCCGAAGCCGTGGG	0.627000													59	132					0	0	0.870114	0	0
KLHL1	57626	broad.mit.edu	37	13	70535443	70535443	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:70535443T>C	ENST00000377844.4	-	3	1573	c.814A>G	c.(814-816)Aca>Gca	p.T272A	KLHL1_ENST00000545028.1_Missense_Mutation_p.T79A	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	272	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCCATACCTGTATATGCAAAT	0.353000													23	41					0	0	0.693898	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471378	146471378	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:146471378C>A	ENST00000361727.3	+	2	629	c.113C>A	c.(112-114)cCa>cAa	p.P38Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	38	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGTGATGAGCCACTTGTCTCT	0.443000										HNSCC(39;0.1)			11	32					0.010729	0.0111823	0.387290	1	0
PAMR1	25891	broad.mit.edu	37	11	35496271	35496271	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:35496271G>T	ENST00000378880.2	-	4	846	c.401C>A	c.(400-402)gCc>gAc	p.A134D	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Missense_Mutation_p.A134D|PAMR1_ENST00000378878.3_Intron|PAMR1_ENST00000532848.1_Missense_Mutation_p.A94D	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	134	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ACCCTTTGGGGCTCGCAGAAC	0.433000													13	39					1.99824e-07	2.52931e-07	0.520397	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766314	77766314	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:77766314G>C	ENST00000521891.2	+	10	7605	c.7157G>C	c.(7156-7158)gGg>gCg	p.G2386A	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2360A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2341A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2341A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2341	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGGCTCTGGGACCAGCACC	0.522000										HNSCC(33;0.089)			16	34					0	0	0.479597	0	0
GREM1	26585	broad.mit.edu	37	15	33023329	33023329	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:33023329C>A	ENST00000300177.4	+	2	627	c.438C>A	c.(436-438)ccC>ccA	p.P146P	GREM1_ENST00000322805.4_Silent_p.P105P|GREM1_ENST00000560677.1_3'UTR|GREM1_ENST00000560830.1_Silent_p.P105P	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	146	CTCK.				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		TCTGCAAGCCCAAGAAATTCA	0.502000													22	46					4.26978e-12	6.3062e-12	0.654019	1	0
ATP10D	57205	broad.mit.edu	37	4	47589211	47589211	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:47589211C>G	ENST00000273859.3	+	22	4198	c.3929C>G	c.(3928-3930)gCt>gGt	p.A1310G		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1310					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACGTCCATTGCTCTTCTGCCC	0.418000													15	44					0	0	0.539581	0	0
PTPRG	5793	broad.mit.edu	37	3	62267340	62267340	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:62267340G>A	ENST00000474889.1	+	27	4245	c.3868G>A	c.(3868-3870)Gaa>Aaa	p.E1290K	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.E1261K|PTPRG-AS1_ENST00000479018.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1290	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E1290K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCTCTCTAATGAAGAACAAAT	0.438000													26	44					0	0	0.769981	0	0
POTEH	23784	broad.mit.edu	37	22	16287778	16287778	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:16287778C>T	ENST00000343518.6	-	1	159	c.108G>A	c.(106-108)agG>agA	p.R36R		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	36										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCCGCTCCCCCTGCACCAGG	0.587000													61	47					0	0	0.870114	0	0
NPAP1	23742	broad.mit.edu	37	15	24921406	24921406	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:24921406G>T	ENST00000329468.2	+	1	866	c.392G>T	c.(391-393)cGt>cTt	p.R131L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTTCACCACGTGAGCCGGCG	0.632000													4	56					0.00024832	0.000277447	0.150653	1	0
IGSF9B	22997	broad.mit.edu	37	11	133790145	133790145	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:133790145C>T	ENST00000321016.8	-	18	3705	c.3475G>A	c.(3475-3477)Ggc>Agc	p.G1159S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1159S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1159	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGGGGCCGCCGTGCGCCCCC	0.682000													10	39					0	0	0.435327	0	0
PIWIL2	55124	broad.mit.edu	37	8	22138988	22138988	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:22138988G>T	ENST00000356766.6	+	4	533	c.385G>T	c.(385-387)Ggg>Tgg	p.G129W	PIWIL2_ENST00000454009.2_Missense_Mutation_p.G129W|PIWIL2_ENST00000521356.1_Missense_Mutation_p.G129W	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	129					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GTTGGCGGCTGGGGACAGCAA	0.488000													11	40					3.07112e-06	3.70652e-06	0.387290	1	0
SPEN	23013	broad.mit.edu	37	1	16255538	16255538	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:16255538G>T	ENST00000375759.3	+	11	3007	c.2803G>T	c.(2803-2805)Gtt>Ttt	p.V935F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	935					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACTGGAATCAGTTAGAATGAA	0.468000													20	103					1.50039e-11	2.17962e-11	0.608945	1	0
TTN	7273	broad.mit.edu	37	2	179428686	179428686	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179428686C>G	ENST00000589042.1	-	326	82397	c.82173G>C	c.(82171-82173)tgG>tgC	p.W27391C	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W18451C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W18326C|TTN_ENST00000342992.6_Missense_Mutation_p.W24823C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W18518C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W25750C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25750	Fibronectin type-III 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGTGGGTTCCATGCCAGGT	0.473000													9	55					0	0	0.335167	0	0
SEPT4	5414	broad.mit.edu	37	17	56599366	56599366	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:56599366C>A	ENST00000426861.1	-	6	788	c.702G>T	c.(700-702)gtG>gtT	p.V234V	SEPT4_ENST00000580844.1_Silent_p.V154V|SEPT4_ENST00000393086.1_Silent_p.V234V|SEPT4_ENST00000583114.1_Silent_p.V106V|SEPT4_ENST00000317256.6_Silent_p.V234V|SEPT4_ENST00000317268.3_Silent_p.V253V|SEPT4_ENST00000579371.1_Silent_p.V154V|SEPT4_ENST00000580809.1_Silent_p.V135V|SEPT4_ENST00000457347.2_Silent_p.V268V|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_Silent_p.V245V	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN	septin 4	253					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCAGCAGTGCACCCTGTTGT	0.557000													38	59					6.68952e-21	1.14536e-20	0.864702	1	0
GRIP1	23426	broad.mit.edu	37	12	66786519	66786519	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:66786519G>A	ENST00000359742.4	-	18	2447	c.2207C>T	c.(2206-2208)gCc>gTc	p.A736V	GRIP1_ENST00000286445.7_Missense_Mutation_p.A736V|GRIP1_ENST00000398016.3_Missense_Mutation_p.A684V			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	736	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CAAATGGATGGCTTCACTCAG	0.433000													13	73					0	0	0.435327	0	0
PARK2	5071	broad.mit.edu	37	6	161969912	161969912	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:161969912C>A	ENST00000366898.1	-	9	1159	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	PARK2_ENST00000366897.1_Nonsense_Mutation_p.E325*|PARK2_ENST00000366894.1_Nonsense_Mutation_p.E162*|PARK2_ENST00000338468.3_Nonsense_Mutation_p.E162*|PARK2_ENST00000366896.1_Nonsense_Mutation_p.E204*|PARK2_ENST00000366892.1_Nonsense_Mutation_p.E353*	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	353					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TTGCCCCCTTCGCAGGTGACT	0.622000													45	107					2.65591e-33	4.89247e-33	0.870114	1	0
TEF	7008	broad.mit.edu	37	22	41783641	41783641	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:41783641C>T	ENST00000266304.4	+	2	560	c.444C>T	c.(442-444)atC>atT	p.I148I	TEF_ENST00000406644.3_Silent_p.I118I	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	148					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CCACTGCCATCTTTCAGCCCT	0.602000													8	21					0	0	0.307466	0	0
IMPAD1	54928	broad.mit.edu	37	8	57876397	57876397	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:57876397G>C	ENST00000262644.4	-	5	1293	c.1035C>G	c.(1033-1035)gcC>gcG	p.A345A		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	345						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				TTCTGACCAGGGCCTGGTGGT	0.473000													44	108					0	0	0.870114	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42157977	42157977	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:42157977C>T	ENST00000444063.1	+	6	887	c.755C>T	c.(754-756)cCg>cTg	p.P252L	L3MBTL1_ENST00000373135.3_Missense_Mutation_p.P252L|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.P320L|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.P252L|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.P320L			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	252					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCTCAACACCCGTCCATGTAC	0.532000													8	19					0	0	0.361761	0	0
MAP2	4133	broad.mit.edu	37	2	210574909	210574909	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:210574909A>T	ENST00000360351.4	+	12	5510	c.5004A>T	c.(5002-5004)ccA>ccT	p.P1668P	MAP2_ENST00000392194.1_Silent_p.P312P|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000361559.4_Silent_p.P312P|MAP2_ENST00000199940.6_Silent_p.P369P|MAP2_ENST00000447185.1_Silent_p.P1664P	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1668					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AACCACTGCCAGACCTGAAGA	0.478000													5	5					0	0	0.184627	0	0
DNMT3B	1789	broad.mit.edu	37	20	31390254	31390254	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:31390254G>T	ENST00000328111.2	+	20	2530	c.2209G>T	c.(2209-2211)Ggc>Tgc	p.G737C	DNMT3B_ENST00000344505.4_Missense_Mutation_p.G717C|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G729C|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G717C|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G717C|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G641C|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G675C	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	737					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATACTTCTGGGGCAACCTACC	0.468000													40	79					1.00776e-21	1.74531e-21	0.870114	1	0
PKHD1	5314	broad.mit.edu	37	6	51875134	51875134	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:51875134T>A	ENST00000371117.3	-	35	5999	c.5724A>T	c.(5722-5724)atA>atT	p.I1908I	PKHD1_ENST00000340994.4_Silent_p.I1908I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1908					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGCGTTTCCGTATCTCAGTAA	0.378000													12	28					0	0	0.435327	0	0
THAP4	51078	broad.mit.edu	37	2	242573057	242573057	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:242573057T>A	ENST00000407315.1	-	2	946	c.515A>T	c.(514-516)gAa>gTa	p.E172V		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	172							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TGGAGTCCGTTCCAGAGCTTG	0.642000													9	27					0	0	0.307466	0	0
VEGFC	7424	broad.mit.edu	37	4	177608569	177608569	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:177608569G>C	ENST00000280193.2	-	6	1332	c.917C>G	c.(916-918)cCc>cGc	p.P306R	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	306	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTCTTTGTGGGGTCCACAGCT	0.507000													10	66					0	0	0.335167	0	0
ZNF253	56242	broad.mit.edu	37	19	19989306	19989306	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:19989306G>T	ENST00000589717.1	+	2	112	c.20G>T	c.(19-21)aGa>aTa	p.R7I	ZNF253_ENST00000355650.4_Intron	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	7	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGCAATTTAGAGATGTGGCC	0.393000													39	57					2.84144e-21	4.88169e-21	0.870114	1	0
RFWD2	64326	broad.mit.edu	37	1	176175712	176175712	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:176175712C>G	ENST00000367669.3	-	1	917	c.403G>C	c.(403-405)Gta>Cta	p.V135L	RFWD2_ENST00000308769.8_Missense_Mutation_p.V135L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	135					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACCCACCATACGAAGTCGTTG	0.597000													10	57					0	0	0.479597	0	0
PZP	5858	broad.mit.edu	37	12	9312562	9312562	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:9312562G>A	ENST00000261336.2	-	25	3137	c.3109C>T	c.(3109-3111)Cga>Tga	p.R1037*	PZP_ENST00000381997.2_Nonsense_Mutation_p.R823*	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CTGCCATATCGTTCCCCAAAG	0.428000													41	80					0	0	0.870114	0	0
ABCD4	5826	broad.mit.edu	37	14	74763132	74763132	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:74763132T>A	ENST00000356924.4	-	5	589	c.446A>T	c.(445-447)gAc>gTc	p.D149V	ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000298816.7_Missense_Mutation_p.D62V|ABCD4_ENST00000557588.1_Missense_Mutation_p.D149V	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	149	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TCGCTCCACGTCCTGGCTGAT	0.557000													20	51					0	0	0.608945	0	0
NUP43	348995	broad.mit.edu	37	6	150057682	150057682	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:150057682C>G	ENST00000340413.2	-	6	791	c.715G>C	c.(715-717)Gat>Cat	p.D239H	NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000460354.2_Missense_Mutation_p.D239H|NUP43_ENST00000367404.4_Intron	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	239					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		AACATTCCATCTTGGCCACCA	0.448000													11	36					0	0	0.411799	0	0
NPY1R	4886	broad.mit.edu	37	4	164246676	164246676	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:164246676A>T	ENST00000296533.2	-	3	1465	c.934T>A	c.(934-936)Tcc>Acc	p.S312T	NPY1R_ENST00000509586.1_Missense_Mutation_p.S69T	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	312					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACACAAGTGGATATCATTGCT	0.418000													4	46					0	0	0.150653	0	0
INHBA	3624	broad.mit.edu	37	7	41729792	41729792	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:41729792T>A	ENST00000242208.4	-	3	983	c.737A>T	c.(736-738)cAg>cTg	p.Q246L	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.Q246L	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	246					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTCCTGGCACTGCTCACAGGC	0.597000										TSP Lung(11;0.080)			8	27					0	0	0.361761	0	0
FZR1	51343	broad.mit.edu	37	19	3527758	3527758	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:3527758G>T	ENST00000441788.2	+	7	836	c.600G>T	c.(598-600)gtG>gtT	p.V200V	FZR1_ENST00000395095.3_Silent_p.V200V|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	200					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCAATGTGCTCAGCGTGG	0.632000													10	18					2.80697e-09	3.80928e-09	0.387290	1	0
XIRP2	129446	broad.mit.edu	37	2	167992470	167992470	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:167992470G>T	ENST00000409195.1	+	3	549	c.460G>T	c.(460-462)Ggg>Tgg	p.G154W	XIRP2_ENST00000295237.9_Missense_Mutation_p.G154W|XIRP2_ENST00000409043.1_Missense_Mutation_p.G154W|XIRP2_ENST00000420519.1_Missense_Mutation_p.G154W|XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000409756.2_Missense_Mutation_p.G154W|XIRP2_ENST00000409728.1_Missense_Mutation_p.G154W	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGTCACCCTGGGAGCCAGCT	0.433000													22	61					7.88262e-20	1.32997e-19	0.654019	1	0
XKRX	402415	broad.mit.edu	37	X	100178007	100178007	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:100178007C>G	ENST00000328526.5	-	2	983	c.418G>C	c.(418-420)Gag>Cag	p.E140Q	XKRX_ENST00000468904.1_Intron|XKRX_ENST00000372956.2_Missense_Mutation_p.E127Q	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	127						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCCTGCTCCTCTTTCTTCCAC	0.507000													17	23					0	0	0.592651	0	0
KCNQ4	9132	broad.mit.edu	37	1	41283859	41283859	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:41283859C>A	ENST00000347132.5	+	3	511	c.429C>A	c.(427-429)ttC>ttA	p.F143L	KCNQ4_ENST00000509682.2_Missense_Mutation_p.F143L	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	143					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TCGTGGTTTTCGGCTTGGAGT	0.617000													19	79					6.21321e-17	1.0153e-16	0.639603	1	0
OR4N5	390437	broad.mit.edu	37	14	20612059	20612059	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:20612059C>T	ENST00000333629.1	+	1	165	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ACCCTGGGCTCACAGCCCCCC	0.463000													54	180					0	0	0.870114	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45885899	45885899	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:45885899G>A	ENST00000418234.2	-	12	2412	c.2334C>T	c.(2332-2334)tcC>tcT	p.S778S	PPP1R13L_ENST00000360957.5_Silent_p.S778S	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	778	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCTCGCGGAAGGACAGCTCGT	0.682000													22	53					0	0	0.624587	0	0
C4orf26	152816	broad.mit.edu	37	4	76489342	76489342	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:76489342C>A	ENST00000311623.4	+	2	121	c.86C>A	c.(85-87)aCg>aAg	p.T29K	C4orf26_ENST00000435974.2_Missense_Mutation_p.R44S	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	29						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GAGGTATTTACGCCTCCTGGA	0.527000													10	28					0.00829132	0.0086716	0.361761	1	0
DNAJC11	55735	broad.mit.edu	37	1	6704656	6704656	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:6704656G>A	ENST00000377577.5	-	10	1182	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	DNAJC11_ENST00000542246.1_Silent_p.V315V|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Silent_p.V263V|DNAJC11_ENST00000294401.7_Silent_p.V353V|DNAJC11_ENST00000465508.1_5'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	353					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCAACGCTGACAGCTGCAC	0.537000													9	25					0	0	0.307466	0	0
SYNJ2	8871	broad.mit.edu	37	6	158450011	158450011	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:158450011G>T	ENST00000355585.4	+	3	513	c.438G>T	c.(436-438)acG>acT	p.T146T	SYNJ2_ENST00000449859.2_Silent_p.T95T|SYNJ2_ENST00000367121.3_Silent_p.T146T|SYNJ2_ENST00000367122.2_Silent_p.T146T	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	146	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGTCCGCACGCAGAAGCAGG	0.582000													8	50					5.50884e-06	6.55918e-06	0.411799	1	0
TTN	7273	broad.mit.edu	37	2	179436945	179436945	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179436945C>T	ENST00000589042.1	-	326	74138	c.73914G>A	c.(73912-73914)gaG>gaA	p.E24638E	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.E15698E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.E15573E|TTN_ENST00000342992.6_Silent_p.E22070E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.E15765E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.E22997E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22997	Ig-like 122.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCTGGTTTCTCCCAAGAGA	0.478000													11	29					0	0	0.387290	0	0
KCNK5	8645	broad.mit.edu	37	6	39162477	39162477	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:39162477G>C	ENST00000359534.3	-	3	696	c.358C>G	c.(358-360)Ctc>Gtc	p.L120V		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	120					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						ACCCCGAAGAGACCATAGAAA	0.587000													31	85					0	0	0.834066	0	0
NPAP1	23742	broad.mit.edu	37	15	24923500	24923500	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:24923500C>T	ENST00000329468.2	+	1	2960	c.2486C>T	c.(2485-2487)cCt>cTt	p.P829L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AATACCACCCCTCCTTCCAAA	0.498000													14	73					0	0	0.500413	0	0
SV2C	22987	broad.mit.edu	37	5	75427638	75427638	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:75427638G>T	ENST00000502798.2	+	2	505	c.63G>T	c.(61-63)gaG>gaT	p.E21D	SV2C_ENST00000322285.7_Missense_Mutation_p.E21D	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	21	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TTGCCAGAGAGGTGAAGAAAC	0.458000													19	31					2.89027e-11	4.15062e-11	0.624587	1	0
ADAM21	8747	broad.mit.edu	37	14	70925238	70925238	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:70925238A>G	ENST00000603540.1	+	2	1280	c.1022A>G	c.(1021-1023)cAt>cGt	p.H341R	ADAM21_ENST00000267499.3_Missense_Mutation_p.H341R|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	341	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ACTGTGGCCCATGAGTTAGGT	0.428000													18	43					0	0	0.557998	0	0
COL6A3	1293	broad.mit.edu	37	2	238244935	238244935	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:238244935C>A	ENST00000295550.4	-	40	9260	c.8808G>T	c.(8806-8808)gtG>gtT	p.V2936V	COL6A3_ENST00000409809.1_Silent_p.V2730V|COL6A3_ENST00000346358.4_Silent_p.V2736V|COL6A3_ENST00000347401.3_Silent_p.V2735V|COL6A3_ENST00000472056.1_Silent_p.V2329V|COL6A3_ENST00000353578.4_Silent_p.V2730V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2936	Ala-rich.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGCTGGCTTCACCGCCACTG	0.627000													35	41					1.60099e-16	2.59923e-16	0.804634	1	0
FBXO3	26273	broad.mit.edu	37	11	33777464	33777464	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:33777464G>A	ENST00000530401.1	-	5	536	c.516C>T	c.(514-516)gtC>gtT	p.V172V	FBXO3_ENST00000265651.3_Silent_p.V177V|FBXO3_ENST00000534136.1_Silent_p.V177V|FBXO3_ENST00000526785.1_Silent_p.V64V|FBXO3_ENST00000448981.2_Silent_p.V177V			Q9UK99	FBX3_HUMAN	F-box protein 3	177					proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CAGCTGTATCGACGTCTAACA	0.453000													3	47					0	0	0.184627	0	0
CCDC89	220388	broad.mit.edu	37	11	85396236	85396236	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:85396236C>A	ENST00000316398.3	-	1	1084	c.938G>T	c.(937-939)cGg>cTg	p.R313L		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	313						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TTGCTCAAACCGCTCCAGCGC	0.512000													20	33					4.35082e-09	5.87263e-09	0.592651	1	0
MYO7A	4647	broad.mit.edu	37	11	76915168	76915168	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:76915168G>A	ENST00000409709.3	+	39	5646	c.5374G>A	c.(5374-5376)Gtc>Atc	p.V1792I	MYO7A_ENST00000458637.2_Missense_Mutation_p.V1754I|MYO7A_ENST00000409619.2_Missense_Mutation_p.V1743I|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1792	MyTH4 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GACACGCTCCGTCAACGAGCT	0.592000													3	9					0	0	0.150653	0	0
PAPLN	89932	broad.mit.edu	37	14	73718736	73718736	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:73718736A>G	ENST00000427855.1	+	10	956	c.854A>G	c.(853-855)cAg>cGg	p.Q285R	PAPLN_ENST00000555445.1_Missense_Mutation_p.Q285R|PAPLN_ENST00000554301.1_Missense_Mutation_p.Q285R|PAPLN_ENST00000381166.3_Missense_Mutation_p.Q285R|PAPLN_ENST00000340738.5_Missense_Mutation_p.Q258R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	285						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTCATCAGCCAGGAGCCCAAC	0.682000													11	28					0	0	0.557998	0	0
GOLGA8F	100132565	broad.mit.edu	37	15	28632777	28632777	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:28632777G>T	ENST00000526619.2	+	14	1718	c.703G>T	c.(703-705)Ggg>Tgg	p.G235W	GOLGA8F_ENST00000532622.2_Missense_Mutation_p.G449W|GOLGA8F_ENST00000337838.7_Intron|GOLGA8F_ENST00000450328.2_Missense_Mutation_p.G231W																lung(4)	4						GGACAGTGAGGGGGAGGAGGC	0.612000													8	44					2.39556e-15	3.77917e-15	0.639603	1	0
NPAS4	266743	broad.mit.edu	37	11	66191339	66191339	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:66191339G>T	ENST00000311034.2	+	7	1154	c.978G>T	c.(976-978)ttG>ttT	p.L326F		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	326					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCCAGCAGTTGAACTCTGAAG	0.552000													24	48					4.59853e-10	6.39629e-10	0.693898	1	0
NTRK1	4914	broad.mit.edu	37	1	156838013	156838013	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:156838013C>T	ENST00000368196.3	+	5	666	c.546C>T	c.(544-546)ccC>ccT	p.P182P	NTRK1_ENST00000358660.3_Silent_p.P182P|NTRK1_ENST00000392302.2_Silent_p.P152P|NTRK1_ENST00000524377.1_Silent_p.P182P	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	182	LRRCT.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGCAAGGGCCCCTGGCCCACA	0.647000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			11	13					0	0	0.387290	0	0
TTLL6	284076	broad.mit.edu	37	17	46868950	46868950	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:46868950G>A	ENST00000393382.3	-	9	1155	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	TTLL6_ENST00000433608.2_Silent_p.F31F	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	290	TTL.					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						AGTATGCACTGAAGGTGGAGA	0.557000											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	41					0	0	0.717897	0	0
ZNF645	158506	broad.mit.edu	37	X	22291500	22291500	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:22291500A>T	ENST00000323684.1	+	1	436	c.392A>T	c.(391-393)cAg>cTg	p.Q131L		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	131						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AAAAGCTTACAGGCTCATATC	0.443000													15	14					0	0	0.520397	0	0
RYR2	6262	broad.mit.edu	37	1	237756790	237756790	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:237756790G>T	ENST00000366574.2	+	33	4607	c.4290G>T	c.(4288-4290)gtG>gtT	p.V1430V	RYR2_ENST00000542537.1_Silent_p.V1414V|RYR2_ENST00000360064.6_Silent_p.V1428V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1430	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTACTCAGTGAGAATCTTTC	0.398000													26	20					4.74835e-14	7.29212e-14	0.750413	1	0
LAMA1	284217	broad.mit.edu	37	18	6965403	6965403	+	Missense_Mutation	SNP	C	C	A	rs141811330		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:6965403C>A	ENST00000389658.3	-	50	7172	c.7079G>T	c.(7078-7080)cGt>cTt	p.R2360L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2360	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACTCTGCCACGAAACAGCTC	0.443000													13	56					0.000308642	0.000340797	0.479597	1	0
KCNU1	157855	broad.mit.edu	37	8	36793066	36793066	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:36793066G>A	ENST00000399881.3	+	27	3115	c.3078G>A	c.(3076-3078)aaG>aaA	p.K1026K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1026						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATGAGTTCAAGCTGCTGCCTT	0.448000													40	73					0	0	0.870114	0	0
FLG2	388698	broad.mit.edu	37	1	152324460	152324460	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:152324460G>C	ENST00000388718.5	-	3	5874	c.5802C>G	c.(5800-5802)caC>caG	p.H1934Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1934							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGACTAGGGTGGCCATGTT	0.522000													108	113					0	0	0.870114	0	0
SH3BP2	6452	broad.mit.edu	37	4	2826361	2826361	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:2826361G>A	ENST00000356331.5	+	4	522	c.261G>A	c.(259-261)gaG>gaA	p.E87E	SH3BP2_ENST00000511747.1_Silent_p.E87E|SH3BP2_ENST00000503393.2_Silent_p.E144E|SH3BP2_ENST00000452765.2_Silent_p.E87E|SH3BP2_ENST00000435136.2_Silent_p.E87E|SH3BP2_ENST00000442312.2_Silent_p.E115E	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	87	PH.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CGGCTGAGGAGACCACGTCCA	0.612000									Cherubism				22	34					0	0	0.681144	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17308432	17308432	+	RNA	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:17308432T>C	ENST00000425038.1	+	0	69					NR_003607.1																						AAAGAATTACTTATTTGAGAT	0.413000													7	9					0	0	0.278610	0	0
MUC16	94025	broad.mit.edu	37	19	9060335	9060335	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:9060335T>A	ENST00000397910.4	-	3	27314	c.27111A>T	c.(27109-27111)acA>acT	p.T9037T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9039	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						ACATGACTTGTGTCATGGAGT	0.527000													14	22					0	0	0.500413	0	0
OR8J1	219477	broad.mit.edu	37	11	56127745	56127745	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:56127745G>T	ENST00000303039.3	+	1	55	c.23G>T	c.(22-24)aGa>aTa	p.R8I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					AATTTCACCAGAGTCACTGAG	0.453000													11	24					9.05144e-12	1.32643e-11	0.435327	1	0
ZEB2	9839	broad.mit.edu	37	2	145161502	145161502	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:145161502T>C	ENST00000558170.2	-	6	1972	c.788A>G	c.(787-789)cAc>cGc	p.H263R	ZEB2_ENST00000539609.3_Missense_Mutation_p.H239R|ZEB2_ENST00000409487.3_Missense_Mutation_p.H263R|ZEB2_ENST00000303660.4_Missense_Mutation_p.H263R	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	263						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCCTGGCTTGTGTGTCACCAT	0.458000													102	93					0	0	0.870114	0	0
OR10A2	341276	broad.mit.edu	37	11	6891503	6891503	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:6891503G>A	ENST00000307322.4	+	1	580	c.518G>A	c.(517-519)aGg>aAg	p.R173K		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	173				R -> K (in Ref. 4; AAK95109).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTGTGCTGAGGCTGGTCTGT	0.507000													5	94					0	0	0.184627	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858795	149858795	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:149858795G>T	ENST00000331380.2	+	1	271	c.271G>T	c.(271-273)Gac>Tac	p.D91Y		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	91					nucleosome assembly	nucleosome|nucleus	DNA binding	p.D91H(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CATCCGCAACGACGAGGAACT	0.597000													10	53					2.35188e-11	3.39365e-11	0.539581	1	0
DMRT3	58524	broad.mit.edu	37	9	990869	990869	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:990869G>T	ENST00000190165.2	+	2	1321	c.1283G>T	c.(1282-1284)cGc>cTc	p.R428L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	428					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CTTCCTGCCCGCGCCACGGAA	0.552000													12	14					0.00010058	0.000113643	0.411799	1	0
MON1B	22879	broad.mit.edu	37	16	77228649	77228649	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:77228649G>T	ENST00000248248.3	+	4	1243	c.893G>T	c.(892-894)cGg>cTg	p.R298L	MON1B_ENST00000545553.1_Missense_Mutation_p.R152L|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Missense_Mutation_p.R189L	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	298							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCCGAGTGCCGGCTGGACCCA	0.657000													3	54					0.115264	0.117529	0.115264	1	0
ASTN1	460	broad.mit.edu	37	1	177001626	177001626	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:177001626G>T	ENST00000367654.2	-	3	844	c.831C>A	c.(829-831)ggC>ggA	p.G277G	ASTN1_ENST00000367657.3_Silent_p.G277G|ASTN1_ENST00000361833.2_Silent_p.G277G|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.G277G			O14525	ASTN1_HUMAN	astrotactin 1	277					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTTCATTGCAGCCCTGCAGGG	0.597000													89	52					3.0784e-53	5.89439e-53	0.870114	1	0
FNDC8	54752	broad.mit.edu	37	17	33454165	33454165	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:33454165C>A	ENST00000158009.5	+	2	429	c.314C>A	c.(313-315)cCc>cAc	p.P105H		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	105										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		GTGACCCAGCCCAACAGCAGC	0.552000													67	119					1.25089e-41	2.35323e-41	0.870114	1	0
KIAA1211	57482	broad.mit.edu	37	4	57182568	57182568	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:57182568C>T	ENST00000504228.1	+	6	3005	c.2900C>T	c.(2899-2901)cCc>cTc	p.P967L	KIAA1211_ENST00000264229.6_Missense_Mutation_p.P967L|KIAA1211_ENST00000541073.1_Missense_Mutation_p.P960L			Q6ZU35	K1211_HUMAN	KIAA1211	967	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCTCCCAAGCCCACCAGTCAG	0.647000													7	17					0	0	0.307466	0	0
CCDC15	80071	broad.mit.edu	37	11	124847487	124847487	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:124847487G>T	ENST00000529051.1	+	6	1003	c.744G>T	c.(742-744)atG>atT	p.M248I	CCDC15_ENST00000344762.5_Missense_Mutation_p.M248I			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	248						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGAATTATATGGAAAATCAGG	0.398000													5	9					3.59834e-05	4.13712e-05	0.217242	1	0
SNTG1	54212	broad.mit.edu	37	8	51617258	51617258	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:51617258C>T	ENST00000522124.1	+	16	1798	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A	SNTG1_ENST00000518864.1_Silent_p.A379A|SNTG1_ENST00000517473.1_Silent_p.A379A|SNTG1_ENST00000276467.5_Silent_p.A379A	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	379	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTGACCTCGCCCAGTGGGAAA	0.552000													37	33					0	0	0.812448	0	0
SLC13A5	284111	broad.mit.edu	37	17	6610444	6610444	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:6610444A>T	ENST00000433363.2	-	2	367	c.134T>A	c.(133-135)aTg>aAg	p.M45K	SLC13A5_ENST00000381074.4_Intron|SLC13A5_ENST00000573648.1_Missense_Mutation_p.M45K|SLC13A5_ENST00000293800.6_Missense_Mutation_p.M45K	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	45						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GTAAATGGCCATGAGGATGAT	0.567000													41	27					0	0	0.870114	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88938432	88938432	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:88938432C>A	ENST00000277141.6	-	14	2524	c.100G>T	c.(100-102)Gaa>Taa	p.E34*	ZCCHC6_ENST00000375963.3_Nonsense_Mutation_p.E745*|ZCCHC6_ENST00000375960.2_Nonsense_Mutation_p.E622*|ZCCHC6_ENST00000375961.2_Nonsense_Mutation_p.E745*			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	745					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CTTCCTGTTTCTGGATGGTAT	0.433000													38	40					5.04308e-16	8.1088e-16	0.819951	1	0
IGKV1-16	28938	broad.mit.edu	37	2	89399510	89399510	+	RNA	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:89399510C>A	ENST00000479981.1	-	0	219																											GACTTAGGGGCTTTCCCTGGT	0.507000													28	107					5.45727e-16	8.75607e-16	0.729181	1	0
NFRKB	4798	broad.mit.edu	37	11	129754773	129754773	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:129754773C>A	ENST00000524794.1	-	5	804	c.684G>T	c.(682-684)acG>acT	p.T228T	NFRKB_ENST00000446488.3_Intron|NFRKB_ENST00000304521.5_Intron|NFRKB_ENST00000524746.1_Intron			Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	213					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTAAATCCAACGTGGCTGTGG	0.522000													7	13					0.000673444	0.000734977	0.361761	1	0
ACIN1	22985	broad.mit.edu	37	14	23562726	23562726	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:23562726G>A	ENST00000262710.1	-	2	667	c.340C>T	c.(340-342)Cac>Tac	p.H114Y	ACIN1_ENST00000457657.1_Missense_Mutation_p.H114Y|ACIN1_ENST00000605057.1_Missense_Mutation_p.H56Y|ACIN1_ENST00000555053.1_Missense_Mutation_p.H114Y	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	114					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGTGTTGAGTGTTTCTGTAAA	0.433000													18	48					0	0	0.592651	0	0
CLSTN2	64084	broad.mit.edu	37	3	140282874	140282874	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:140282874G>T	ENST00000458420.3	+	16	2744	c.2554G>T	c.(2554-2556)Gtg>Ttg	p.V852L		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	852					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGCCATGGGTGTGTACCGGGT	0.537000										HNSCC(16;0.037)			31	91					8.88839e-20	1.49799e-19	0.750413	1	0
SCN3B	55800	broad.mit.edu	37	11	123508911	123508911	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:123508911C>A	ENST00000392770.2	-	4	1369	c.567G>T	c.(565-567)gaG>gaT	p.E189D	SCN3B_ENST00000299333.3_Missense_Mutation_p.E189D|SCN3B_ENST00000530277.1_Missense_Mutation_p.E189D	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	189					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		CTTGGGCTGCCTCTTCGGCTT	0.453000													6	18					2.0095e-06	2.45678e-06	0.248553	1	0
CHRND	1144	broad.mit.edu	37	2	233393274	233393274	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:233393274G>T	ENST00000457943.2	+	5	445	c.146G>T	c.(145-147)tGt>tTt	p.C49F	CHRND_ENST00000258385.3_Silent_p.V139V|CHRND_ENST00000536614.1_Silent_p.V139V|CHRND_ENST00000543200.1_Silent_p.V124V			Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	0					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		ACGGCTTCGTGTACTGGCTGC	0.577000													95	102					8.26238e-36	1.53897e-35	0.870114	1	0
MGAM	8972	broad.mit.edu	37	7	141719069	141719069	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:141719069C>T	ENST00000475668.2	+	4	452	c.398C>T	c.(397-399)tCc>tTc	p.S133F	MGAM_ENST00000549489.2_Missense_Mutation_p.S133F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	133	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCTACTATTCCAAGAATCAT	0.512000													22	44					0	0	0.639603	0	0
LAT2	7462	broad.mit.edu	37	7	73634097	73634097	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:73634097C>A	ENST00000460943.1	+	5	1047	c.158C>A	c.(157-159)aCg>aAg	p.T53K	LAT2_ENST00000344995.5_Missense_Mutation_p.T53K|LAT2_ENST00000398475.1_Missense_Mutation_p.T53K|LAT2_ENST00000275635.7_Missense_Mutation_p.T53K	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family, member 2	53					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						CAGAGCTTTACGGGGTCCCGG	0.607000													51	152					1.55088e-19	2.60791e-19	0.870114	1	0
WSCD2	9671	broad.mit.edu	37	12	108604034	108604034	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:108604034C>A	ENST00000332082.4	+	5	1452	c.634C>A	c.(634-636)Cgc>Agc	p.R212S	WSCD2_ENST00000547525.1_Missense_Mutation_p.R212S|WSCD2_ENST00000549903.1_Missense_Mutation_p.R212S|WSCD2_ENST00000261400.3_Missense_Mutation_p.R212S			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	212	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CGGCGCCAACCGCCTCTCTGT	0.682000													5	7					0.0215528	0.0222019	0.217242	1	0
RGS9	8787	broad.mit.edu	37	17	63149633	63149633	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:63149633A>C	ENST00000449996.3	+	2	223	c.151A>C	c.(151-153)Aca>Cca	p.T51P	RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000262406.9_Missense_Mutation_p.T51P|RGS9_ENST00000443584.3_Missense_Mutation_p.T51P	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	51	DEP.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TCATGCCATGACAGGTGATGT	0.522000													7	94					0	0	0.278610	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33667548	33667548	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:33667548G>T	ENST00000321505.4	+	16	5015	c.4835G>T	c.(4834-4836)cGc>cTc	p.R1612L	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1618L					KIAA1549-like																		CCGACCTACCGCCCAGAAATG	0.627000													3	10					2.56e-06	3.11212e-06	0.150653	1	0
DNAH10	196385	broad.mit.edu	37	12	124403315	124403315	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:124403315C>A	ENST00000409039.3	+	64	10996	c.10971C>A	c.(10969-10971)atC>atA	p.I3657I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3657					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGGGGGCCATCCTGTTCTTCG	0.567000													10	19					0.000673444	0.000734977	0.361761	1	0
TEX15	56154	broad.mit.edu	37	8	30705252	30705252	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:30705252C>T	ENST00000256246.2	-	1	1356	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	428										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGTTCATTTTCATTTTTCCTA	0.338000													15	81					0	0	0.479597	0	0
BPIFA1	51297	broad.mit.edu	37	20	31825642	31825642	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:31825642T>A	ENST00000354297.4	+	2	196	c.125T>A	c.(124-126)tTg>tAg	p.L42*	BPIFA1_ENST00000375413.4_Nonsense_Mutation_p.L42*|BPIFA1_ENST00000375422.2_Nonsense_Mutation_p.L42*	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	42					innate immune response	extracellular region	lipid binding										GCCCTGCCCTTGAGTCCCACA	0.562000													26	79					0	0	0.750413	0	0
KRT31	3881	broad.mit.edu	37	17	39551870	39551870	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:39551870G>T	ENST00000251645.2	-	4	646	c.594C>A	c.(592-594)gtC>gtA	p.V198V		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	198	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCAGGGTATTGACCTCCTATG	0.488000													5	46					0.000157383	0.000176895	0.278610	1	0
TMC5	79838	broad.mit.edu	37	16	19485485	19485485	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:19485485A>T	ENST00000396229.2	+	12	2726	c.1977A>T	c.(1975-1977)ttA>ttT	p.L659F	TMC5_ENST00000542583.2_Missense_Mutation_p.L659F|TMC5_ENST00000564959.1_Missense_Mutation_p.L342F|TMC5_ENST00000381414.4_Missense_Mutation_p.L659F|TMC5_ENST00000561503.1_Missense_Mutation_p.L300F|TMC5_ENST00000541464.1_Missense_Mutation_p.L607F|TMC5_ENST00000219821.5_Missense_Mutation_p.L413F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	659						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CGGTGCTGTTACTGCCTTTCG	0.552000													53	133					0	0	0.870114	0	0
ALS2	57679	broad.mit.edu	37	2	202603421	202603421	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:202603421C>A	ENST00000264276.6	-	12	2761	c.2389G>T	c.(2389-2391)Gga>Tga	p.G797*	ALS2_ENST00000457679.2_Nonsense_Mutation_p.G109*	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	797	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AGCTGGAATCCTCCCATAACC	0.383000													9	44					1.08611e-07	1.38878e-07	0.387290	1	0
CCNT1	904	broad.mit.edu	37	12	49088075	49088075	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:49088075T>A	ENST00000261900.3	-	9	1144	c.922A>T	c.(922-924)Agt>Tgt	p.S308C		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	308					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GGCACTGCACTTGTGGTAGAA	0.483000													14	50					0	0	0.479597	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136173	220136173	+	RNA	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:220136173C>A	ENST00000490341.1	+	0	643					NR_003063.1																						AGACATCGAGCGCCCAACCTA	0.532000													16	63					3.51602e-12	5.2134e-12	0.575678	1	0
CDH6	1004	broad.mit.edu	37	5	31317493	31317493	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:31317493C>A	ENST00000265071.2	+	10	1789	c.1524C>A	c.(1522-1524)acC>acA	p.T508T	CDH6_ENST00000514738.1_Silent_p.T453T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	508	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGATTCAGACCCTGCATGCTG	0.393000													21	43					1.10923e-09	1.53296e-09	0.639603	1	0
BDH1	622	broad.mit.edu	37	3	197238927	197238927	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:197238927C>A	ENST00000392379.1	-	8	1272	c.871G>T	c.(871-873)Ggc>Tgc	p.G291C	BDH1_ENST00000441275.1_Missense_Mutation_p.G204C|BDH1_ENST00000358186.2_Missense_Mutation_p.G291C|BDH1_ENST00000392378.2_Missense_Mutation_p.G291C	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	291					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TCTGTGGAGCCACTGCTGCAG	0.577000													32	100					2.05212e-20	3.48189e-20	0.812448	1	0
PAPOLB	56903	broad.mit.edu	37	7	4899793	4899793	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:4899793C>A	ENST00000404991.1	-	1	1832	c.1646G>T	c.(1645-1647)aGc>aTc	p.S549I	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	549					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CTGAGAACTGCTAATCAATGG	0.453000													16	77					2.4624e-09	3.35376e-09	0.575678	1	0
IGSF10	285313	broad.mit.edu	37	3	151166319	151166319	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:151166319C>A	ENST00000282466.3	-	4	1449	c.1450G>T	c.(1450-1452)Gaa>Taa	p.E484*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	484	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAGTATGTTCCAGCTTAGTA	0.483000													34	128					1.47197e-15	2.34177e-15	0.834066	1	0
KLB	152831	broad.mit.edu	37	4	39436334	39436334	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:39436334C>T	ENST00000257408.4	+	2	1427	c.1330C>T	c.(1330-1332)Ctt>Ttt	p.L444F		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	444	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAGCCAGGTGCTTCAAGGTTG	0.373000													4	22					0	0	0.184627	0	0
SNORD113-5	767565	broad.mit.edu	37	14	101404570	101404570	+	RNA	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:101404570G>T	ENST00000607261.1	+	0	47					NR_003233.1																						CAACACTTTTGATTAAGCCCT	0.353000													46	111					5.22555e-25	9.28507e-25	0.870114	1	0
MTF1	4520	broad.mit.edu	37	1	38305733	38305733	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:38305733G>A	ENST00000373036.4	-	3	646	c.506C>T	c.(505-507)aCc>aTc	p.T169I		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	169						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACAGACAAAGGTGTACTCTCC	0.547000													23	56					0	0	0.717897	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686031	125686031	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:125686031C>A	ENST00000371126.1	-	1	803	c.561G>T	c.(559-561)ctG>ctT	p.L187L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	187										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGCGGTCGCCCAGGCACAGGG	0.672000													5	6					3.59834e-05	4.13712e-05	0.217242	1	0
BTK	695	broad.mit.edu	37	X	100615557	100615557	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:100615557C>A	ENST00000308731.7	-	8	938	c.776_splice	c.e8+1	p.G259_splice	BTK_ENST00000372880.1_Splice_Site_p.G259_splice	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	259	SH3.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGACTCACCCATTTTTATCT	0.498000									Agammaglobulinemia, X-linked				15	15					1.33834e-09	1.83777e-09	0.557998	1	0
NUTM1	256646	broad.mit.edu	37	15	34646724	34646724	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:34646724C>A	ENST00000537011.1	+	6	1535	c.1153C>A	c.(1153-1155)Cct>Act	p.P385T	NUTM1_ENST00000438749.3_Missense_Mutation_p.P375T|NUTM1_ENST00000333756.4_Missense_Mutation_p.P357T					NUT midline carcinoma, family member 1									p.P357T(1)									ACCTCCTGCTCCTGAGGCACC	0.587000													21	33					7.45023e-12	1.0982e-11	0.592651	1	0
CEP164	22897	broad.mit.edu	37	11	117242165	117242165	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:117242165A>G	ENST00000278935.3	+	9	1282	c.1135A>G	c.(1135-1137)Agt>Ggt	p.S379G	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	379					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GGAAGAGGGCAGTTCAGACGC	0.582000													15	32					0	0	0.539581	0	0
HKDC1	80201	broad.mit.edu	37	10	71020921	71020921	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:71020921A>C	ENST00000354624.5	+	16	2376	c.2243A>C	c.(2242-2244)tAc>tCc	p.Y748S	HKDC1_ENST00000395086.2_Missense_Mutation_p.Y748S	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	748					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGTGGGATGTACTTGGGGGAG	0.542000													9	38					0	0	0.361761	0	0
MYO18B	84700	broad.mit.edu	37	22	26224872	26224872	+	Silent	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:26224872T>C	ENST00000335473.7	+	15	3166	c.2916T>C	c.(2914-2916)caT>caC	p.H972H	MYO18B_ENST00000407587.2_Silent_p.H972H|MYO18B_ENST00000536101.1_Silent_p.H972H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	972	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACTACGCCCATGAGCGCCTGC	0.617000													13	18					0	0	0.479597	0	0
PTGIS	5740	broad.mit.edu	37	20	48140725	48140725	+	Missense_Mutation	SNP	G	G	T	rs141132754	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:48140725G>T	ENST00000244043.4	-	6	754	c.725C>A	c.(724-726)tCc>tAc	p.S242Y	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	242					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CCTGGCTGGGGATAGCAGCTT	0.602000													34	85					1.49673e-21	2.5862e-21	0.819951	1	0
SYT3	84258	broad.mit.edu	37	19	51140624	51140624	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:51140624G>C	ENST00000338916.4	-	1	678	c.45C>G	c.(43-45)atC>atG	p.I15M	SYT3_ENST00000593901.1_Missense_Mutation_p.I15M|SYT3_ENST00000544769.1_Missense_Mutation_p.I15M|SYT3_ENST00000600079.1_Missense_Mutation_p.I15M	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	15						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCGAGACCAGGATGAGTGCCC	0.622000													28	26					0	0	0.717897	0	0
LARGE	9215	broad.mit.edu	37	22	33733749	33733749	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:33733749C>T	ENST00000354992.2	-	11	1741	c.1170G>A	c.(1168-1170)aaG>aaA	p.K390K	LARGE_ENST00000452586.2_Silent_p.K189K|LARGE_ENST00000437602.2_Silent_p.K390K|LARGE_ENST00000337431.2_Intron|LARGE_ENST00000397394.2_Silent_p.K390K|LARGE_ENST00000402320.1_Intron	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	390					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CATGCTTGTTCTTCACCCGGA	0.562000													11	45					0	0	0.411799	0	0
LCK	3932	broad.mit.edu	37	1	32740530	32740530	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:32740530C>A	ENST00000373564.3	+	2	298	c.298C>A	c.(298-300)Cct>Act	p.P100T	LCK_ENST00000333070.4_Intron|LCK_ENST00000336890.5_Intron			P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	0	SH3.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	TGTCCCCCACCCTGTAACTCC	0.597000			T	TRB@	T-ALL								8	28					2.17888e-05	2.52636e-05	0.335167	1	0
ITGA8	8516	broad.mit.edu	37	10	15760770	15760770	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:15760770G>C	ENST00000378076.3	-	2	691	c.338C>G	c.(337-339)aCc>aGc	p.T113S		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	113					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTTACTGGTGGTGTCAAACGG	0.597000													19	93					0	0	0.575678	0	0
THBS1	7057	broad.mit.edu	37	15	39882765	39882765	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:39882765G>T	ENST00000260356.5	+	14	2359	c.2194G>T	c.(2194-2196)Gat>Tat	p.D732Y		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	732					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTATGACAAGGATGGAATTGG	0.413000													19	40					6.32553e-13	9.55816e-13	0.681144	1	0
RELN	5649	broad.mit.edu	37	7	103243856	103243856	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:103243856C>G	ENST00000424685.2	-	24	3387	c.3228G>C	c.(3226-3228)caG>caC	p.Q1076H	RELN_ENST00000428762.1_Missense_Mutation_p.Q1076H|RELN_ENST00000343529.5_Missense_Mutation_p.Q1076H			P78509	RELN_HUMAN	reelin	1076					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCCAGCCATTCTGGTTCTCAA	0.493000													36	82					0	0	0.804634	0	0
LRRC18	474354	broad.mit.edu	37	10	50121979	50121979	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:50121979G>T	ENST00000374160.3	-	1	298	c.222C>A	c.(220-222)aaC>aaA	p.N74K	LRRC18_ENST00000298124.3_Missense_Mutation_p.N74K|WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	74						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCCACCGGAGGTTCTGGAACT	0.547000													4	37					0.00024832	0.000277447	0.150653	1	0
DCAF4L1	285429	broad.mit.edu	37	4	41984291	41984291	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:41984291C>A	ENST00000333141.5	+	1	579	c.482C>A	c.(481-483)gCg>gAg	p.A161E		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	161										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CTGCTCCCAGCGTCGCGGTTC	0.572000													14	53					1.15088e-07	1.46786e-07	0.500413	1	0
HADHA	3030	broad.mit.edu	37	2	26426983	26426983	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:26426983T>C	ENST00000380649.3	-	12	1297	c.1168A>G	c.(1168-1170)Aaa>Gaa	p.K390E		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	390					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GTGGCATCTTTAAGTATAGTC	0.502000													161	265					0	0	0.870114	0	0
TAF3	83860	broad.mit.edu	37	10	8006747	8006747	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:8006747G>T	ENST00000344293.5	+	3	1480	c.1274G>T	c.(1273-1275)aGa>aTa	p.R425I		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	425					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGCCCTAAGAGAATTTCAGGC	0.493000													30	54					5.43694e-19	9.11201e-19	0.812448	1	0
THEMIS	387357	broad.mit.edu	37	6	128134522	128134522	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:128134522C>G	ENST00000368250.1	-	5	1525	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	THEMIS_ENST00000543064.1_Missense_Mutation_p.E422Q|THEMIS_ENST00000537166.1_Missense_Mutation_p.E387Q|THEMIS_ENST00000368248.2_Missense_Mutation_p.E422Q			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	422	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGCGCAGCCTCATAGGACTTT	0.438000													14	35					0	0	0.479597	0	0
CD300E	342510	broad.mit.edu	37	17	72613290	72613290	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:72613290G>T	ENST00000392619.1	-	2	471	c.436C>A	c.(436-438)Ccc>Acc	p.P146T	CD300E_ENST00000426295.2_Missense_Mutation_p.P160T|CD300E_ENST00000328630.3_Missense_Mutation_p.P119T	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	119						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGTCCGAGGGATCGCGTGAC	0.547000													32	113					4.11147e-13	6.23767e-13	0.788014	1	0
COL15A1	1306	broad.mit.edu	37	9	101800987	101800987	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:101800987C>A	ENST00000375001.3	+	22	2870	c.2447C>A	c.(2446-2448)tCg>tAg	p.S816*		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	816	Nonhelical region 4 (NC4).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ATGAATTTCTCGGACATTCCT	0.483000													25	45					2.42023e-17	3.97214e-17	0.779181	1	0
SMC1A	8243	broad.mit.edu	37	X	53439185	53439185	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:53439185C>T	ENST00000322213.4	-	6	1000	c.873G>A	c.(871-873)ttG>ttA	p.L291L	SMC1A_ENST00000375340.6_Intron|SMC1A_ENST00000463684.1_5'UTR	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	291					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GCTTCTGGTTCAATTCTGAGT	0.512000													6	11					0	0	0.278610	0	0
OR52R1	119695	broad.mit.edu	37	11	4825366	4825366	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:4825366G>T	ENST00000380382.1	-	1	481	c.482C>A	c.(481-483)cCt>cAt	p.P161H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.P82H			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAACATCTTAGGTTGAGTGGA	0.498000													17	43					3.41278e-10	4.76902e-10	0.520397	1	0
OR2M2	391194	broad.mit.edu	37	1	248343895	248343895	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:248343895G>T	ENST00000359682.2	+	1	608	c.608G>T	c.(607-609)tGt>tTt	p.C203F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCATCTGCTGTATAGTAATG	0.428000													173	106					1.5993e-79	3.07794e-79	0.870114	1	0
RYR3	6263	broad.mit.edu	37	15	34110877	34110877	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:34110877G>A	ENST00000389232.4	+	76	10768	c.10698G>A	c.(10696-10698)acG>acA	p.T3566T	RYR3_ENST00000415757.3_Silent_p.T3561T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3566					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T3565T(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACGCTCTCACGGAGAGGAGGT	0.517000													9	14					0	0	0.387290	0	0
CHRND	1144	broad.mit.edu	37	2	233393335	233393335	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:233393335T>A	ENST00000258385.3	+	5	510	c.478T>A	c.(478-480)Ttc>Atc	p.F160I	CHRND_ENST00000536614.1_Missense_Mutation_p.F160I|CHRND_ENST00000457943.2_Silent_p.P69P|CHRND_ENST00000543200.1_Missense_Mutation_p.F145I	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	160					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CTATTTCCCCTTCGACTGGCA	0.577000													17	103					0	0	0.639603	0	0
SEPT14	346288	broad.mit.edu	37	7	55874857	55874857	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:55874857G>T	ENST00000388975.3	-	8	1028	c.912C>A	c.(910-912)caC>caA	p.H304Q		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	304					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AACATTCATAGTGCTGAGTGT	0.378000													10	38					1.08611e-07	1.38878e-07	0.387290	1	0
DPY19L4	286148	broad.mit.edu	37	8	95750606	95750606	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:95750606C>T	ENST00000414645.2	+	4	361	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	88						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					GGAGCTTGAACGGGAAATCAC	0.343000													17	64					0	0	0.575678	0	0
ZW10	9183	broad.mit.edu	37	11	113644334	113644334	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:113644334C>A	ENST00000200135.3	-	1	199	c.55G>T	c.(55-57)Gat>Tat	p.D19Y		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	19	Interaction with RINT1.|Interaction with ZWINT.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GTCCCCAGATCCTCCTTTTCC	0.632000													10	59					6.42651e-13	9.701e-13	0.387290	1	0
GBA3	57733	broad.mit.edu	37	4	22749243	22749243	+	RNA	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:22749243C>G	ENST00000508166.1	+	0	713				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CATGCCAGATCCTGGCACAGC	0.453000													25	75					0	0	0.706142	0	0
CDC20B	166979	broad.mit.edu	37	5	54420663	54420663	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:54420663G>T	ENST00000296733.1	-	9	1357	c.1183C>A	c.(1183-1185)Ctg>Atg	p.L395M	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Missense_Mutation_p.L395M|CDC20B_ENST00000381375.2_Missense_Mutation_p.L395M	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	395										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATGACTTTCAGCGGTTGGCCC	0.522000													5	38					0.014758	0.0152967	0.184627	1	0
TTN	7273	broad.mit.edu	37	2	179436812	179436812	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179436812C>T	ENST00000589042.1	-	326	74271	c.74047G>A	c.(74047-74049)Gaa>Aaa	p.E24683K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E15743K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E15618K|TTN_ENST00000342992.6_Missense_Mutation_p.E22115K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E15810K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E23042K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23042	Fibronectin type-III 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGTATTCTTCACCCTGAATT	0.478000													8	27					0	0	0.361761	0	0
IGHJ2	28481	broad.mit.edu	37	14	106331436	106331436	+	RNA	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:106331436G>A	ENST00000390564.2	-	0	24																											AGGGTGCCACGGCCCCAGAGA	0.622000													4	11					0	0	0.184627	0	0
EFCAB12	90288	broad.mit.edu	37	3	129140221	129140221	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:129140221T>A	ENST00000505956.1	-	2	637	c.475A>T	c.(475-477)Agg>Tgg	p.R159W	EFCAB12_ENST00000326085.3_Missense_Mutation_p.R159W	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		CTGGTGGTCCTGGTAGTTGCC	0.537000													6	16					0	0	0.217242	0	0
CACNA1C	775	broad.mit.edu	37	12	2800282	2800282	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:2800282G>A	ENST00000399655.1	+	47	6599	c.6334G>A	c.(6334-6336)Gag>Aag	p.E2112K	CACNA1C_ENST00000399617.1_Missense_Mutation_p.E2147K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E2183K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E2140K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E2160K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E2112K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E2120K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E2112K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E2112K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E2147K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E2183K|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E2120K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E2118K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E2137K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E2112K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E2129K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E2132K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E2131K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E2112K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E2153K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E2131K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E2131K|CACNA1C-AS1_ENST00000544517.1_RNA	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2195					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGGGGGCGAAGAGGACGCGGG	0.692000													15	11					0	0	0.539581	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476923	20476923	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:20476923G>A	ENST00000573854.1	+	3	376	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	ACSM2A_ENST00000575690.1_Missense_Mutation_p.E88K|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.E88K|ACSM2A_ENST00000396104.2_Missense_Mutation_p.E88K|ACSM2A_ENST00000219054.6_Missense_Mutation_p.E88K|ACSM2A_ENST00000417235.2_Missense_Mutation_p.E9K|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	88					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGAACTGAGTGAAAACAGCCA	0.597000													12	51					0	0	0.411799	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44219848	44219848	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:44219848C>T	ENST00000371554.1	+	10	1789	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	HSP90AB1_ENST00000353801.3_Silent_p.L525L|HSP90AB1_ENST00000371646.5_Silent_p.L525L			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	525					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCAGCAGCTCAAGGAATTTG	0.537000													4	25					0	0	0.150653	0	0
PLB1	151056	broad.mit.edu	37	2	28812885	28812885	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:28812885G>T	ENST00000422425.2	+	28	2041	c.1997G>T	c.(1996-1998)gGc>gTc	p.G666V	PLB1_ENST00000327757.5_Missense_Mutation_p.G677V|PLB1_ENST00000329020.6_Missense_Mutation_p.G365V	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	677	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGCCTGTTGGCCAGAAGACG	0.552000													33	72					2.6416e-12	3.94406e-12	0.819951	1	0
IL21R	50615	broad.mit.edu	37	16	27455868	27455868	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:27455868G>T	ENST00000337929.3	+	6	986	c.513G>T	c.(511-513)ccG>ccT	p.P171P	IL21R_ENST00000395754.4_Silent_p.P171P|IL21R_ENST00000395755.1_Silent_p.P171P|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Silent_p.P171P	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	171	Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGCAGAGTCCGAGGAGAAAGC	0.582000			T	BCL6	NHL								12	24					0.00185496	0.00200123	0.435327	1	0
RUNDC3B	154661	broad.mit.edu	37	7	87407136	87407136	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:87407136G>C	ENST00000338056.3	+	9	1283	c.872G>C	c.(871-873)cGa>cCa	p.R291P	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.R274P|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.R274P	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	291										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GAACTCTTACGACTTCGAGAG	0.368000													10	17					0	0	0.457914	0	0
BCORL1	63035	broad.mit.edu	37	X	129173179	129173179	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:129173179G>T	ENST00000540052.1	+	9	4584	c.4540G>T	c.(4540-4542)Gat>Tat	p.D1514Y	BCORL1_ENST00000359304.2_Missense_Mutation_p.D1384Y|BCORL1_ENST00000303743.5_Missense_Mutation_p.D1588Y|BCORL1_ENST00000218147.7_Missense_Mutation_p.D1514Y	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1514					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTATGGGGCCGATCCCACACT	0.567000													13	19					0.000219431	0.000246451	0.457914	1	0
MCF2L	23263	broad.mit.edu	37	13	113741727	113741727	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:113741727G>T	ENST00000397030.1	+	22	2688	c.2651G>T	c.(2650-2652)gGg>gTg	p.G884V	MCF2L_ENST00000434480.2_Missense_Mutation_p.G857V|MCF2L_ENST00000375608.3_Missense_Mutation_p.G881V|MCF2L_ENST00000442652.2_Missense_Mutation_p.G881V|MCF2L_ENST00000535094.2_Missense_Mutation_p.G851V|MCF2L_ENST00000421756.1_Missense_Mutation_p.G855V|MCF2L_ENST00000375604.2_Missense_Mutation_p.G908V|MCF2L_ENST00000375601.3_Missense_Mutation_p.G855V|MCF2L_ENST00000375597.4_Missense_Mutation_p.G849V|MCF2L_ENST00000423482.2_Missense_Mutation_p.G849V			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	881	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AATGGGGAGGGGTATGAGAAA	0.592000													8	8					0.00307968	0.00326403	0.278610	1	0
PRKD1	5587	broad.mit.edu	37	14	30105689	30105689	+	Missense_Mutation	SNP	G	G	A	rs146285949		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:30105689G>A	ENST00000331968.5	-	7	1226	c.997C>T	c.(997-999)Cct>Tct	p.P333S	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Missense_Mutation_p.P341S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	333					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCTGCCCCAGGGCTAAGCAAA	0.438000													19	41					0	0	0.592651	0	0
RP1L1	94137	broad.mit.edu	37	8	10466404	10466404	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:10466404C>A	ENST00000382483.3	-	4	5427	c.5204G>T	c.(5203-5205)aGc>aTc	p.S1735I		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1735					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGCCCCTGGCTCAGCCCCGG	0.657000													34	101					5.71845e-15	8.97421e-15	0.812448	1	0
FZD7	8324	broad.mit.edu	37	2	202901057	202901057	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:202901057A>T	ENST00000286201.1	+	1	1748	c.1687A>T	c.(1687-1689)Aga>Tga	p.R563*		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	563					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CTTCTACCACAGACTTAGCCA	0.612000													33	37					0	0	0.796494	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510192	77510192	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:77510192C>A	ENST00000477717.1	+	3	800	c.565C>A	c.(565-567)Ctg>Atg	p.L189M		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	189					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CTACAACAACCTGCATCTCCT	0.597000													17	99					5.3912e-06	6.44461e-06	0.539581	1	0
FRMD4A	55691	broad.mit.edu	37	10	13735910	13735910	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:13735910G>A	ENST00000357447.2	-	15	1473	c.1105C>T	c.(1105-1107)Ctg>Ttg	p.L369L	FRMD4A_ENST00000342409.2_Silent_p.L385L|FRMD4A_ENST00000358621.4_Silent_p.L354L|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000378503.1_Silent_p.L369L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	369						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GAAGACAGCAGGCTGCCGCTG	0.652000													12	18					0	0	0.435327	0	0
ATP13A5	344905	broad.mit.edu	37	3	193080198	193080198	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:193080198C>A	ENST00000342358.4	-	5	625	c.508G>T	c.(508-510)Ggt>Tgt	p.G170C		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	170					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CTGGTCAGACCCAATCCAAAT	0.418000													29	62					2.68265e-12	3.9949e-12	0.769981	1	0
PTGIR	5739	broad.mit.edu	37	19	47127215	47127215	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:47127215C>A	ENST00000291294.2	-	2	401	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S	PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.A90S|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	90					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	TCGCACAGGGCGGGGCCGCCT	0.701000													3	12					0.115264	0.117529	0.115264	1	0
TBL2	26608	broad.mit.edu	37	7	72988399	72988399	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:72988399C>A	ENST00000305632.5	-	3	556	c.315G>T	c.(313-315)ctG>ctT	p.L105L	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.L69L|TBL2_ENST00000452475.1_Silent_p.L105L	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	105										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACAGGTAGCCAGGTATTTGC	0.572000													10	44					4.3838e-07	5.4752e-07	0.435327	1	0
RNASE12	493901	broad.mit.edu	37	14	21058504	21058504	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:21058504C>A	ENST00000556526.1	-	1	478	c.379G>T	c.(379-381)Gag>Tag	p.E127*	AL163195.3_ENST00000555283.1_RNA|RNASE11_ENST00000335950.4_5'UTR|RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	127						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		ACAAACCCCTCTGTGGGGGAA	0.453000													21	49					4.54149e-19	7.61977e-19	0.624587	1	0
MRPS24	64951	broad.mit.edu	37	7	43906464	43906464	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:43906464C>A	ENST00000317534.5	-	4	399	c.338G>T	c.(337-339)cGg>cTg	p.R113L	MRPS24_ENST00000467084.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_3'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	113					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						CTGGTTACCCCGGCGCTTTAA	0.547000													7	59					0.00307968	0.00326403	0.278610	1	0
GRM5	2915	broad.mit.edu	37	11	88330451	88330451	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:88330451G>C	ENST00000418177.2	-	6	1831	c.1464C>G	c.(1462-1464)gaC>gaG	p.D488E	GRM5_ENST00000305432.5_Missense_Mutation_p.D488E|GRM5_ENST00000393297.1_Missense_Mutation_p.D488E|GRM5_ENST00000305447.4_Missense_Mutation_p.D488E|GRM5_ENST00000455756.2_Missense_Mutation_p.D488E			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	488					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ATTCTCCATTGTCCCAACTTC	0.353000													8	20					0	0	0.335167	0	0
FBXO16	157574	broad.mit.edu	37	8	28321313	28321313	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:28321313T>C	ENST00000380254.2	-	4	306	c.158A>G	c.(157-159)cAa>cGa	p.Q53R	FBXO16_ENST00000518734.1_Missense_Mutation_p.Q41R|FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000346498.2_Missense_Mutation_p.Q41R	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	53										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TCTTCTTCTTTGAGAGTCTGT	0.438000													12	23					0	0	0.500413	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473810	53473810	+	RNA	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:53473810C>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TGAATGAAAGCTTGATCCAAG	0.388000													49	44					1.84395e-34	3.41767e-34	0.870114	1	0
CALM1	801	broad.mit.edu	37	14	90870246	90870246	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:90870246G>T	ENST00000356978.4	+	4	467	c.219G>T	c.(217-219)atG>atT	p.M73I	CALM1_ENST00000544280.2_Missense_Mutation_p.M37I|RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000553542.1_Missense_Mutation_p.M37I|CALM1_ENST00000447653.3_Missense_Mutation_p.M74I	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	73	EF-hand 2.		M -> T (in dbSNP:rs41389749).		activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	TGACTATGATGGCTAGAAAAA	0.393000													6	25					0.00198382	0.00212502	0.248553	1	0
FGD6	55785	broad.mit.edu	37	12	95535258	95535258	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:95535258C>A	ENST00000343958.4	-	6	2966	c.2743G>T	c.(2743-2745)Gac>Tac	p.D915Y	FGD6_ENST00000546711.1_Missense_Mutation_p.D915Y|FGD6_ENST00000549499.1_Missense_Mutation_p.D915Y	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	915	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AGAATCCGGTCCTCAATCACT	0.448000													8	38					2.17888e-05	2.52636e-05	0.335167	1	0
DGCR14	8220	broad.mit.edu	37	22	19121734	19121734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:19121734C>A	ENST00000252137.6	-	10	1449	c.1406G>T	c.(1405-1407)cGg>cTg	p.R469L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	469					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					AGCTTTGCGCCGGGCAGGGAG	0.647000													7	25					0.000274275	0.000303965	0.307466	1	0
C1QB	713	broad.mit.edu	37	1	22987523	22987523	+	Missense_Mutation	SNP	C	C	T	rs149072794	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:22987523C>T	ENST00000509305.1	+	3	746	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	C1QB_ENST00000314933.6_Missense_Mutation_p.R136W			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	136	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCCCTGCGCCGGGACCAGAC	0.587000													13	85					0	0	0.500413	0	0
AC096579.13	0	broad.mit.edu	37	2	89160141	89160141	+	RNA	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:89160141C>A	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA																							TAATTACTTTCCCCTTAACAA	0.403000													6	28					0.00307968	0.00326403	0.278610	1	0
MLLT3	4300	broad.mit.edu	37	9	20414338	20414338	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:20414338C>A	ENST00000380338.4	-	5	792	c.506G>T	c.(505-507)aGc>aTc	p.S169I	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.S166I	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	169	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		gctgctgctgctgctactgct	0.542000			T	MLL	ALL								3	8					1.23904e-05	1.44667e-05	0.184627	1	0
LRRC66	339977	broad.mit.edu	37	4	52863992	52863992	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:52863992C>G	ENST00000343457.3	-	3	784	c.778G>C	c.(778-780)Gat>Cat	p.D260H		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	260						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GCCACACTATCATCACACTGC	0.393000													49	114					0	0	0.870114	0	0
PRDM9	56979	broad.mit.edu	37	5	23526721	23526721	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:23526721C>A	ENST00000296682.3	+	11	1706	c.1524C>A	c.(1522-1524)aaC>aaA	p.N508K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	508					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATCCAGGGAACACAGGCAAAT	0.428000										HNSCC(3;0.000094)			15	40					0.00400662	0.00424049	0.500413	1	0
TRPV6	55503	broad.mit.edu	37	7	142574532	142574532	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:142574532G>A	ENST00000359396.3	-	5	791	c.546C>T	c.(544-546)ctC>ctT	p.L182L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	182					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CATGCTCAATGAGCAGCCGCA	0.597000													44	56					0	0	0.870114	0	0
F5	2153	broad.mit.edu	37	1	169529939	169529939	+	Missense_Mutation	SNP	C	C	T	rs118203912		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:169529939C>T	ENST00000367796.3	-	4	640	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	F5_ENST00000546081.1_Missense_Mutation_p.E10K|F5_ENST00000367797.3_Missense_Mutation_p.E147K			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	147	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.E147K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TAGGTGTATTCTCGGCCTGGA	0.517000													33	103					0	0	0.834066	0	0
FAM83A	84985	broad.mit.edu	37	8	124195292	124195292	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:124195292G>T	ENST00000518448.1	+	2	2210	c.196G>T	c.(196-198)Gtg>Ttg	p.V66L	FAM83A_ENST00000276699.6_Missense_Mutation_p.V66L|FAM83A_ENST00000318462.6_Missense_Mutation_p.V66L|FAM83A_ENST00000546351.1_Missense_Mutation_p.V66L|FAM83A_ENST00000536633.1_Missense_Mutation_p.V66L|FAM83A_ENST00000522648.1_Missense_Mutation_p.V66L			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	66										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTGTCCTCGGTGGAGGCCCA	0.682000													16	18					0.000566183	0.000621521	0.520397	1	0
NR1H3	10062	broad.mit.edu	37	11	47282960	47282960	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:47282960A>T	ENST00000467728.1	+	4	1906	c.668A>T	c.(667-669)cAg>cTg	p.Q223L	NR1H3_ENST00000395397.3_Missense_Mutation_p.Q178L|NR1H3_ENST00000481889.2_Missense_Mutation_p.Q178L|NR1H3_ENST00000407404.1_Missense_Mutation_p.Q223L|NR1H3_ENST00000527949.1_Missense_Mutation_p.Q132L|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.Q223L|NR1H3_ENST00000405576.1_Missense_Mutation_p.Q178L|NR1H3_ENST00000441012.2_Missense_Mutation_p.Q223L			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	223	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GCCCAGCAACAGTGTAACCGG	0.617000													12	42					0	0	0.479597	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6082016	6082016	+	Silent	SNP	C	C	T	rs150623866		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:6082016C>T	ENST00000409021.3	-	7	1574	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	JAKMIP1_ENST00000409831.1_Silent_p.A375A|JAKMIP1_ENST00000409371.3_Silent_p.A210A|JAKMIP1_ENST00000410077.2_Silent_p.A210A|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000282924.5_Silent_p.A375A	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	375	Mediates interaction with TYK2 and GABBR1.		A -> V (in a colorectal cancer sample; somatic mutation).		protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTCAGAGACGCCTGCGCTG	0.577000													8	27					0	0	0.335167	0	0
ACOT13	55856	broad.mit.edu	37	6	24698141	24698141	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:24698141G>A	ENST00000537591.1	+	3	630	c.43G>A	c.(43-45)Gtg>Atg	p.V15M	ACOT13_ENST00000476436.1_3'UTR|ACOT13_ENST00000230048.4_Missense_Mutation_p.V38M	NM_001160094.1	NP_001153566.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13	38					protein homotetramerization	mitochondrion	acyl-CoA thioesterase activity			large_intestine(1)	1						TCCTGGGAAAGTGATTTGTGA	0.388000													5	31					0	0	0.217242	0	0
CNGA4	1262	broad.mit.edu	37	11	6262679	6262679	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:6262679C>A	ENST00000379936.2	+	5	1051	c.936C>A	c.(934-936)atC>atA	p.I312I	CNGA4_ENST00000533426.1_Silent_p.I81I	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	312					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTGCAGATCAACAAGAAGA	0.562000													11	57					3.86212e-05	4.42688e-05	0.361761	1	0
HYDIN	54768	broad.mit.edu	37	16	70977764	70977764	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:70977764C>A	ENST00000393567.2	-	42	6770	c.6620G>T	c.(6619-6621)tGt>tTt	p.C2207F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2207										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGGGAGCACACAGCTCATCAG	0.627000													10	24					2.27111e-07	2.86266e-07	0.411799	1	0
CD4	920	broad.mit.edu	37	12	6925297	6925297	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:6925297C>A	ENST00000011653.4	+	6	941	c.683C>A	c.(682-684)aCa>aAa	p.T228K	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	228	Ig-like C2-type 2.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CTCGCCTTTACAGTTGAAAAG	0.552000													15	91					1.15088e-07	1.46786e-07	0.500413	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20868121	20868121	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:20868121G>C	ENST00000381552.1	+	6	946	c.578G>C	c.(577-579)gGc>gCc	p.G193A	SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G75A|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G193A|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G193A			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	193					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GTTTTCCTGGGCAATCTTCTT	0.403000													50	91					0	0	0.870114	0	0
HERC2	8924	broad.mit.edu	37	15	28358796	28358796	+	Missense_Mutation	SNP	C	C	A	rs143209042		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:28358796C>A	ENST00000261609.7	-	91	14050	c.13942G>T	c.(13942-13944)Gct>Tct	p.A4648S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4648	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCCCGAACAGCAGCCACCTGC	0.542000													12	21					2.32078e-09	3.16949e-09	0.479597	1	0
IRF4	3662	broad.mit.edu	37	6	397159	397159	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:397159G>T	ENST00000380956.4	+	5	670	c.544G>T	c.(544-546)Gtc>Ttc	p.V182F	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	182					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GAGGGACTACGTCCCGGATCA	0.567000			T	IGH@	MM								20	111					7.92952e-12	1.16542e-11	0.667858	1	0
HTR5A	3361	broad.mit.edu	37	7	154863225	154863225	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:154863225G>T	ENST00000287907.2	+	1	1192	c.616G>T	c.(616-618)Gta>Tta	p.V206L	AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	206						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTTCTCCACCGTAGGCGCCTT	0.607000													11	30					9.04627e-18	1.49447e-17	0.435327	1	0
GRIA4	2893	broad.mit.edu	37	11	105850454	105850454	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:105850454G>C	ENST00000282499.5	+	17	3143	c.2697G>C	c.(2695-2697)tcG>tcC	p.S899S	GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_3'UTR|GRIA4_ENST00000530497.1_Silent_p.S899S|GRIA4_ENST00000393127.2_3'UTR	NM_000829.3	NP_000820.3	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	899					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCATTGCATCGGACCTACCAT	0.502000													5	14					0	0	0.217242	0	0
ADAM19	8728	broad.mit.edu	37	5	156946857	156946857	+	Missense_Mutation	SNP	C	C	A	rs147812090		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:156946857C>A	ENST00000257527.4	-	6	668	c.590G>T	c.(589-591)cGa>cTa	p.R197L	ADAM19_ENST00000517905.1_Missense_Mutation_p.R197L|ADAM19_ENST00000394020.1_Missense_Mutation_p.R199L|ADAM19_ENST00000430702.2_5'UTR	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	197					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGCGAGGTCGCTTCTTGGT	0.537000													26	30					4.74835e-14	7.29212e-14	0.750413	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3672221	3672221	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:3672221G>T	ENST00000344754.4	-	17	4356	c.4357C>A	c.(4357-4359)Ctg>Atg	p.L1453M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1453M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1453	Ig-like C2-type 15.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCACGTCCAGGCCAGGCTCT	0.662000													12	11					0.0202918	0.0210036	0.457914	1	0
KLHL36	79786	broad.mit.edu	37	16	84690791	84690791	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:84690791G>T	ENST00000564996.1	+	3	519	c.378G>T	c.(376-378)ctG>ctT	p.L126L	KLHL36_ENST00000258157.5_Silent_p.L126L	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	126										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTCACCTGCTGCAGATCTGGA	0.602000													8	46					0.000274275	0.000303965	0.307466	1	0
BRCA2	675	broad.mit.edu	37	13	32972857	32972857	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:32972857G>C	ENST00000544455.1	+	27	10434	c.10207G>C	c.(10207-10209)Gaa>Caa	p.E3403Q	BRCA2_ENST00000380152.3_Missense_Mutation_p.E3403Q	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3403					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAGTACGGAAGAATGTGAGAA	0.388000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			12	33					0	0	0.411799	0	0
CUX2	23316	broad.mit.edu	37	12	111748219	111748219	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:111748219G>T	ENST00000261726.6	+	15	1787	c.1633G>T	c.(1633-1635)Ggg>Tgg	p.G545W		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	545						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CGGAGCGGCGGGGCCCGGGGC	0.711000													5	23					0.014758	0.0152967	0.184627	1	0
OR13C8	138802	broad.mit.edu	37	9	107332233	107332233	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:107332233C>A	ENST00000335040.1	+	1	785	c.785C>A	c.(784-786)cCt>cAt	p.P262H		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TACGCAAAGCCTGAGTCTAAA	0.458000													12	26					6.40141e-05	7.28203e-05	0.387290	1	0
GABRG1	2565	broad.mit.edu	37	4	46043194	46043194	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:46043194C>A	ENST00000295452.4	-	9	1376	c.1209G>T	c.(1207-1209)ggG>ggT	p.G403G		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	403			G -> E (in dbSNP:rs17852913).		gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AACACTGATACCCATAATCAT	0.428000													14	41					4.7546e-09	6.40043e-09	0.500413	1	0
TPSD1	23430	broad.mit.edu	37	16	1306591	1306591	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:1306591G>T	ENST00000211076.3	+	2	305	c.157G>T	c.(157-159)Gtg>Ttg	p.V53L	TPSD1_ENST00000397534.2_Missense_Mutation_p.V46L	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	53	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCCCTGGCAGGTGAGCCTGAG	0.692000													24	56					6.12954e-19	1.02499e-18	0.681144	1	0
SEZ6L	23544	broad.mit.edu	37	22	26701954	26701954	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:26701954G>A	ENST00000529632.2	+	6	1554	c.1358G>A	c.(1357-1359)gGa>gAa	p.G453E	SEZ6L_ENST00000248933.6_Missense_Mutation_p.G453E|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G453E|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G453E|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G453E|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G226E|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G226E	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	453	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCTCCTTGTGGAGGGGCAGTG	0.547000													18	59					0	0	0.592651	0	0
PSD2	84249	broad.mit.edu	37	5	139219657	139219657	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:139219657G>T	ENST00000274710.3	+	14	2219	c.2014G>T	c.(2014-2016)Gcg>Tcg	p.A672S		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	672					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTGACTGCGGAGCTGGC	0.562000													15	34					2.23348e-06	2.72178e-06	0.500413	1	0
COL3A1	1281	broad.mit.edu	37	2	189857656	189857656	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:189857656C>A	ENST00000304636.3	+	15	1210	c.1040C>A	c.(1039-1041)cCt>cAt	p.P347H	COL3A1_ENST00000317840.5_Missense_Mutation_p.P347H	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	347	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCTGGATCCCCTGGTGCTAAG	0.388000													5	65					5.9392e-07	7.375e-07	0.217242	1	0
IGFLR1	79713	broad.mit.edu	37	19	36231335	36231335	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:36231335G>A	ENST00000592537.1	-	3	388	c.288C>T	c.(286-288)gcC>gcT	p.A96A	AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000246532.1_Silent_p.A96A|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000592889.1_Intron			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	96						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						TAGGGGTCACGGCTCCGCCGC	0.697000													6	25					0	0	0.217242	0	0
MED12	9968	broad.mit.edu	37	X	70345907	70345907	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:70345907G>T	ENST00000333646.6	+	18	2643	c.2444G>T	c.(2443-2445)cGg>cTg	p.R815L	MED12_ENST00000374080.3_Missense_Mutation_p.R815L|MED12_ENST00000374102.1_Missense_Mutation_p.R815L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	815					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGCAGAAGCGGCGACGCAAC	0.552000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						52	40					3.28156e-27	5.91466e-27	0.870114	1	0
MMRN1	22915	broad.mit.edu	37	4	90874219	90874219	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:90874219A>G	ENST00000394980.1	+	9	3656	c.3337A>G	c.(3337-3339)Ata>Gta	p.I1113V	MMRN1_ENST00000394981.1_Missense_Mutation_p.I416V|MMRN1_ENST00000508372.1_Missense_Mutation_p.I855V|MMRN1_ENST00000264790.2_Missense_Mutation_p.I1113V			Q13201	MMRN1_HUMAN	multimerin 1	1113	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGGAATGACTATACCTGGTCC	0.363000													19	45					0	0	0.639603	0	0
CAPZA2	830	broad.mit.edu	37	7	116552135	116552135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:116552135G>T	ENST00000361183.2	+	8	737	c.598G>T	c.(598-600)Gaa>Taa	p.E200*	CAPZA2_ENST00000458284.2_Nonstop_Mutation_p.*173L	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	200					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			TCATTATTATGAAGATGGTAA	0.313000													25	58					1.2476e-16	2.03207e-16	0.706142	1	0
SETD1A	9739	broad.mit.edu	37	16	30982946	30982946	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:30982946G>C	ENST00000262519.8	+	13	3950	c.3264G>C	c.(3262-3264)acG>acC	p.T1088T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1088	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGTGCCCACGCCAGCACCTG	0.647000													12	55					0	0	0.539581	0	0
DHX38	9785	broad.mit.edu	37	16	72141433	72141433	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:72141433C>T	ENST00000268482.3	+	20	3304	c.2795C>T	c.(2794-2796)gCc>gTc	p.A932V	DHX38_ENST00000536867.1_Missense_Mutation_p.A244V	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	932					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ATCCTCGGGGCCCTGGACAAC	0.597000													9	21					0	0	0.361761	0	0
DSG2	1829	broad.mit.edu	37	18	29111197	29111197	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:29111197G>C	ENST00000261590.8	+	9	1471	c.1262G>C	c.(1261-1263)gGa>gCa	p.G421A		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	421	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GAGGACACTGGACTACCAGCC	0.348000													22	53					0	0	0.706142	0	0
INSL4	3641	broad.mit.edu	37	9	5231714	5231714	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:5231714C>A	ENST00000239316.4	+	1	296	c.191C>A	c.(190-192)cCc>cAc	p.P64H		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	64					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		TCTGGACGTCCCAAAGGTGAG	0.512000													11	13					0.000978159	0.00106291	0.387290	1	0
SYNE2	23224	broad.mit.edu	37	14	64520073	64520073	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:64520073G>C	ENST00000358025.3	+	48	9672	c.9442G>C	c.(9442-9444)Gaa>Caa	p.E3148Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.E3181Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.E3148Q	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3148					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.E3148K(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCACCAAAAGAATTGGATGA	0.299000													5	18					0	0	0.184627	0	0
FAM135A	57579	broad.mit.edu	37	6	71246009	71246009	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:71246009A>T	ENST00000418814.2	+	19	4626	c.4012A>T	c.(4012-4014)Aca>Tca	p.T1338S	FAM135A_ENST00000505868.1_Missense_Mutation_p.T1338S|FAM135A_ENST00000505769.1_Missense_Mutation_p.T918S|FAM135A_ENST00000361499.3_Missense_Mutation_p.T1142S|FAM135A_ENST00000457062.2_Missense_Mutation_p.T1125S|FAM135A_ENST00000370479.3_Missense_Mutation_p.T1125S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1338										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTCAGTGCTTACAAGGCCAAG	0.343000													5	55					0	0	0.217242	0	0
ACOT4	122970	broad.mit.edu	37	14	74061798	74061798	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:74061798G>C	ENST00000326303.4	+	3	960	c.706G>C	c.(706-708)Gat>Cat	p.D236H		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	236					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TCTAGGAGCTGATATTTGTCT	0.453000													22	49					0	0	0.608945	0	0
UNC13A	23025	broad.mit.edu	37	19	17720884	17720884	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:17720884C>G	ENST00000428389.2	-	44	4939	c.4940G>C	c.(4939-4941)tGg>tCg	p.W1647S	UNC13A_ENST00000551649.1_Missense_Mutation_p.W1578S|UNC13A_ENST00000550896.1_Missense_Mutation_p.W1532S|UNC13A_ENST00000252773.7_Missense_Mutation_p.W1559S|UNC13A_ENST00000552293.1_Missense_Mutation_p.W1553S|UNC13A_ENST00000519716.2_Missense_Mutation_p.W1559S			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1559					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGAAGTCTGCCACTTGAGGTC	0.502000													54	66					0	0	0.870114	0	0
BAIAP2	10458	broad.mit.edu	37	17	79080634	79080634	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:79080634G>A	ENST00000321300.6	+	12	1520	c.1427G>A	c.(1426-1428)cGg>cAg	p.R476Q	BAIAP2_ENST00000435091.3_Missense_Mutation_p.R476Q|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R476Q|BAIAP2_ENST00000416299.2_Missense_Mutation_p.R339Q|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R398Q|BAIAP2_ENST00000321280.7_Missense_Mutation_p.R476Q|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R476Q|BAIAP2_ENST00000575245.1_Missense_Mutation_p.R509Q	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	476					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCGCCTCCCGGGCCTTCCCC	0.706000													6	41					0	0	0.217242	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95206137	95206137	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:95206137G>T	ENST00000354268.4	+	23	3009	c.2936G>T	c.(2935-2937)aGc>aTc	p.S979I	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.S981I|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.S549I			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	979	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAACTAATAAGCCAAGGGACG	0.284000													10	42					1.61879e-10	2.27903e-10	0.411799	1	0
SPTBN4	57731	broad.mit.edu	37	19	41009848	41009848	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:41009848G>A	ENST00000352632.3	+	12	1560	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T	SPTBN4_ENST00000338932.3_Missense_Mutation_p.A492T|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A492T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A492T|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A492T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	492					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCGGAGCTGGCCCAGGCATT	0.652000													19	37					0	0	0.608945	0	0
OOSP2	219990	broad.mit.edu	37	11	59811111	59811111	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:59811111C>G	ENST00000278855.2	+	2	419	c.234C>G	c.(232-234)atC>atG	p.I78M	PLAC1L_ENST00000532905.1_Missense_Mutation_p.I47M	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		78						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						ATTGTGGCATCAGGACAAGGG	0.323000													6	44					0	0	0.248553	0	0
SERPINI2	5276	broad.mit.edu	37	3	167164224	167164224	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:167164224A>G	ENST00000476257.1	-	9	1395	c.1097T>C	c.(1096-1098)aTa>aCa	p.I366T	SERPINI2_ENST00000264677.4_Missense_Mutation_p.I366T|SERPINI2_ENST00000471111.1_Missense_Mutation_p.I366T|SERPINI2_ENST00000461846.1_Missense_Mutation_p.I366T			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	366					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATGATTTGCTATAAATTGGCT	0.338000													25	77					0	0	0.750413	0	0
PIK3CA	5290	broad.mit.edu	37	3	178919301	178919301	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:178919301A>T	ENST00000263967.3	+	4	943	c.786A>T	c.(784-786)ctA>ctT	p.L262L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	262	PI3K-RBD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATACTTCCTAGAAAAATATC	0.299000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	36					0	0	0.479597	0	0
TTN	7273	broad.mit.edu	37	2	179480037	179480037	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179480037G>T	ENST00000589042.1	-	259	48859	c.48635C>A	c.(48634-48636)aCa>aAa	p.T16212K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T7272K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T7147K|TTN_ENST00000342992.6_Missense_Mutation_p.T13644K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T7339K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T14571K|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14571	Fibronectin type-III 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCTACTTTGTTTCTGCAAC	0.373000													5	45					5.9392e-07	7.375e-07	0.217242	1	0
R3HDM1	23518	broad.mit.edu	37	2	136437836	136437836	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:136437836A>T	ENST00000264160.4	+	20	2666	c.2296A>T	c.(2296-2298)Aca>Tca	p.T766S	R3HDM1_ENST00000409606.1_Missense_Mutation_p.T767S|R3HDM1_ENST00000409478.1_Missense_Mutation_p.T638S|R3HDM1_ENST00000410054.1_Missense_Mutation_p.T711S|R3HDM1_ENST00000329971.3_Missense_Mutation_p.T637S	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	766							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATCTATGCCCACAACAGGAAT	0.403000													48	57					0	0	0.870114	0	0
TMEM19	55266	broad.mit.edu	37	12	72094749	72094749	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:72094749G>T	ENST00000266673.5	+	6	1579	c.985G>T	c.(985-987)Gct>Tct	p.A329S		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	329						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CCCAACTGCTGCTTGGGGTTT	0.428000													59	126					2.81305e-35	5.22672e-35	0.870114	1	0
LAMA2	3908	broad.mit.edu	37	6	129618855	129618855	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:129618855C>A	ENST00000421865.2	+	21	2931	c.2882C>A	c.(2881-2883)gCa>gAa	p.A961E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	961	Laminin EGF-like 9.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTACAATCAGCAAGGGGCTGT	0.453000													8	49					1.58986e-06	1.95486e-06	0.361761	1	0
SPATA19	219938	broad.mit.edu	37	11	133714491	133714491	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:133714491G>C	ENST00000299140.3	-	3	234	c.180C>G	c.(178-180)atC>atG	p.I60M	SPATA19_ENST00000532889.1_Missense_Mutation_p.I60M	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	60					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		AAGGGTGGTTGATGGACAGCT	0.512000													5	56					0	0	0.184627	0	0
SUGP1	57794	broad.mit.edu	37	19	19414190	19414190	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:19414190C>G	ENST00000247001.5	-	6	1077	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	244					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TTCTGTGCTTCCTTTCTTATC	0.527000													28	48					0	0	0.769981	0	0
KIAA1109	84162	broad.mit.edu	37	4	123107222	123107222	+	Silent	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:123107222A>C	ENST00000264501.4	+	7	763	c.390A>C	c.(388-390)acA>acC	p.T130T	KIAA1109_ENST00000388738.3_Silent_p.T130T|KIAA1109_ENST00000455637.1_Silent_p.T130T			Q2LD37	K1109_HUMAN	KIAA1109	130					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TATACATCACAGTCAATGACT	0.338000													10	34					0	0	0.411799	0	0
TIAM1	7074	broad.mit.edu	37	21	32598231	32598231	+	Silent	SNP	G	G	T	rs143707356	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr21:32598231G>T	ENST00000286827.3	-	8	2091	c.1620C>A	c.(1618-1620)acC>acA	p.T540T	TIAM1_ENST00000541036.1_Silent_p.T540T|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	540	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGTGGATGGCGGTGATCCAGT	0.527000													12	20					2.61681e-11	3.76511e-11	0.457914	1	0
THRB	7068	broad.mit.edu	37	3	24174822	24174822	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:24174822C>T	ENST00000396671.2	-	9	1218	c.870G>A	c.(868-870)ttG>ttA	p.L290L	THRB_ENST00000356447.4_Silent_p.L290L|THRB_ENST00000280696.5_Silent_p.L305L|THRB_ENST00000416420.1_Silent_p.L290L	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	290	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	AAAACATAGGCAACTTTTTGG	0.373000													9	23					0	0	0.387290	0	0
DSCAML1	57453	broad.mit.edu	37	11	117389215	117389215	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:117389215G>T	ENST00000321322.6	-	7	1657	c.1656C>A	c.(1654-1656)ggC>ggA	p.G552G	DSCAML1_ENST00000527706.1_Silent_p.G282G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	492	Ig-like C2-type 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATTCAGCACTGCCCACCAAGT	0.532000													16	84					4.96729e-08	6.46134e-08	0.575678	1	0
ATP6V1A	523	broad.mit.edu	37	3	113524373	113524373	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:113524373G>T	ENST00000273398.3	+	14	1869		c.e14+1		ATP6V1A_ENST00000538620.1_Splice_Site|ATP6V1A_ENST00000461496.1_Splice_Site	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAATTCAAGGTATATTTTGT	0.373000													7	33					0.00198382	0.00212502	0.248553	1	0
INTS4	92105	broad.mit.edu	37	11	77690143	77690143	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:77690143G>C	ENST00000534064.1	-	4	404	c.370C>G	c.(370-372)Cat>Gat	p.H124D	INTS4_ENST00000529807.1_Missense_Mutation_p.H124D	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	124					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGGACTTGATGAGACTCTAGA	0.413000													17	48					0	0	0.520397	0	0
TLR1	7096	broad.mit.edu	37	4	38799406	38799406	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:38799406C>A	ENST00000308979.2	-	4	1320	c.1047G>T	c.(1045-1047)ccG>ccT	p.P349P	TLR1_ENST00000502213.2_Silent_p.P349P	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	349					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AATGCAGGAACGGGCTAATTT	0.363000													9	27					4.3838e-07	5.4752e-07	0.435327	1	0
ACSM5	54988	broad.mit.edu	37	16	20448427	20448427	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:20448427G>C	ENST00000331849.4	+	11	1509	c.1362G>C	c.(1360-1362)ggG>ggC	p.G454G		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	454					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACATCACAGGGGACCGAGCTC	0.488000													19	70					0	0	0.608945	0	0
SFR1	119392	broad.mit.edu	37	10	105883606	105883606	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:105883606C>T	ENST00000336358.5	+	2	975	c.456C>T	c.(454-456)tcC>tcT	p.S152S	SFR1_ENST00000369727.3_Silent_p.S90S|SFR1_ENST00000369729.3_Silent_p.S77S			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	90					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										CAGCATCTTCCACAGAGGAAA	0.303000													19	38					0	0	0.608945	0	0
SV2A	9900	broad.mit.edu	37	1	149885080	149885080	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:149885080C>T	ENST00000369146.3	-	2	803	c.313G>A	c.(313-315)Gag>Aag	p.E105K	SV2A_ENST00000369145.1_Missense_Mutation_p.E105K	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	105					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCCCCAGACTCTGCCCGGGGA	0.637000													56	180					0	0	0.870114	0	0
DLGAP2	9228	broad.mit.edu	37	8	1496869	1496869	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:1496869C>A	ENST00000421627.2	+	2	144	c.10C>A	c.(10-12)Ctt>Att	p.L4I		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	83					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CATGAAGGGCCTTTCCGGAAG	0.677000													5	12					5.18039e-06	6.20246e-06	0.278610	1	0
OR4N2	390429	broad.mit.edu	37	14	20295891	20295891	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:20295891G>A	ENST00000568211.1	+	1	284	c.284G>A	c.(283-285)aGa>aAa	p.R95K	OR4N2_ENST00000315947.1_Missense_Mutation_p.R95K			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTCCTACAGAGGCTGCATC	0.527000													26	270					0	0	0.740014	0	0
ASPM	259266	broad.mit.edu	37	1	197071204	197071204	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:197071204C>A	ENST00000367409.4	-	18	7433	c.7177G>T	c.(7177-7179)Gct>Tct	p.A2393S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2393	IQ 24.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGAATGCAGCCTGAAGGATC	0.448000													85	156					3.21569e-47	6.07991e-47	0.870114	1	0
NEB	4703	broad.mit.edu	37	2	152500419	152500419	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:152500419G>T	ENST00000397345.3	-	57	8071	c.7869C>A	c.(7867-7869)gaC>gaA	p.D2623E	NEB_ENST00000603639.1_Missense_Mutation_p.D2623E|NEB_ENST00000172853.10_Missense_Mutation_p.D2623E|NEB_ENST00000427231.2_Missense_Mutation_p.D2623E|NEB_ENST00000604864.1_Missense_Mutation_p.D2623E|NEB_ENST00000409198.1_Missense_Mutation_p.D2623E	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2623					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGTTCTTGTAGTCCACGTCGC	0.552000													62	224					1.33661e-31	2.44422e-31	0.870114	1	0
MSL3	10943	broad.mit.edu	37	X	11790778	11790778	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:11790778G>T	ENST00000380693.3	+	11	1559	c.922G>T	c.(922-924)Gag>Tag	p.E308*	MSL3_ENST00000312196.4_Nonsense_Mutation_p.E474*|MSL3_ENST00000398527.2_Nonsense_Mutation_p.E462*|MSL3_ENST00000361672.2_Nonsense_Mutation_p.E325*	NM_006800.3	NP_006791.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	474					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GTCCTTTTCTGAGAAGAATCT	0.333000													7	8					0.000274275	0.000303965	0.307466	1	0
DOK2	9046	broad.mit.edu	37	8	21768283	21768283	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:21768283C>A	ENST00000276420.4	-	4	777	c.519G>T	c.(517-519)cgG>cgT	p.R173R	DOK2_ENST00000544659.1_Silent_p.R19R	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	173	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	p.R173R(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCTCCCCAGCCCGGAGGGTAT	0.642000													8	17					0.000274275	0.000303965	0.307466	1	0
PTPN5	84867	broad.mit.edu	37	11	18754793	18754793	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:18754793C>A	ENST00000396170.1	-	11	2375	c.1111G>T	c.(1111-1113)Gag>Tag	p.E371*	PTPN5_ENST00000396167.2_Nonsense_Mutation_p.E371*|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000477854.1_Nonsense_Mutation_p.E207*|PTPN5_ENST00000358540.2_Nonsense_Mutation_p.E403*|PTPN5_ENST00000396168.1_Nonsense_Mutation_p.E379*|PTPN5_ENST00000396171.4_Nonsense_Mutation_p.E403*	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	403	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TCGTTCATCTCCTCGATGTTG	0.522000													32	69					1.90571e-15	3.02541e-15	0.796494	1	0
CTD-2192J16.20	0	broad.mit.edu	37	19	12691789	12691789	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:12691789C>T	ENST00000593682.1	-	1	0	c.1G>A	c.(1-3)Gtg>Atg	p.V1M	ZNF490_ENST00000311437.6_Missense_Mutation_p.C367Y																							GGCTTCCCCACATTTCTTACA	0.413000													18	23					0	0	0.608945	0	0
KIF5A	3798	broad.mit.edu	37	12	57971847	57971847	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:57971847C>A	ENST00000455537.2	+	22	2691	c.2417C>A	c.(2416-2418)aCg>aAg	p.T806K	KIF5A_ENST00000286452.5_Missense_Mutation_p.T717K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	806					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAAGACGTCACGACTCGAGTC	0.532000													21	52					4.26978e-12	6.3062e-12	0.654019	1	0
ZNF833P	401898	broad.mit.edu	37	19	11762830	11762830	+	RNA	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:11762830G>A	ENST00000344893.3	+	0	842					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						ACCGTTCGAAGATACAGGGTA	0.413000													20	35					0	0	0.624587	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3642905	3642905	+	Splice_Site	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:3642905C>G	ENST00000335312.3	-	14	1770	c.1682_splice	c.e14+1	p.R561_splice	PIP5K1C_ENST00000589578.1_Splice_Site_p.R561_splice|PIP5K1C_ENST00000537021.1_Splice_Site_p.R561_splice|PIP5K1C_ENST00000539785.1_Splice_Site_p.R561_splice	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	561					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TGGGTCTCACCTGCCATCCTG	0.627000													19	42					0	0	0.667858	0	0
MMP3	4314	broad.mit.edu	37	11	102712964	102712964	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:102712964G>T	ENST00000299855.5	-	4	802	c.546C>A	c.(544-546)gcC>gcA	p.A182A		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	182					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CATAGGCATGGGCCAAAACAT	0.418000													13	29					0.00316338	0.00335038	0.479597	1	0
CD200R1	131450	broad.mit.edu	37	3	112650004	112650004	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:112650004A>G	ENST00000471858.1	-	2	314	c.82T>C	c.(82-84)Tgt>Cgt	p.C28R	CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000440122.2_Missense_Mutation_p.C51R|CD200R1_ENST00000308611.3_Missense_Mutation_p.C51R|CD200R1_ENST00000490004.1_Missense_Mutation_p.C28R	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	28					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TCATCCATACATAAACTGCTT	0.373000													7	44					0	0	0.278610	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306433	133306433	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:133306433C>G	ENST00000539605.1	-	10	8813	c.2129G>C	c.(2128-2130)aGa>aCa	p.R710T	ANKLE2_ENST00000542282.1_Missense_Mutation_p.R127T|ANKLE2_ENST00000542657.1_Missense_Mutation_p.R127T|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R772T|ANKLE2_ENST00000542374.1_Intron			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	772						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TAACAAGTCTCTTTCTACTGC	0.443000													8	27					0	0	0.307466	0	0
COL2A1	1280	broad.mit.edu	37	12	48381440	48381440	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:48381440C>A	ENST00000380518.3	-	19	1339	c.1175G>T	c.(1174-1176)cGc>cTc	p.R392L	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.R323L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	392	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGGTTCACCGCGAGGACCTTG	0.617000													6	10					0.000442599	0.000486924	0.335167	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69015026	69015026	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:69015026C>A	ENST00000295381.3	+	4	823	c.404C>A	c.(403-405)tCt>tAt	p.S135Y	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.S128Y|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.S135Y|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.S128Y|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.S109Y|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.S128Y|ARHGAP25_ENST00000456116.2_Intron	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	135	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ATGGCCAGCTCTCAGGCGGAG	0.542000													44	76					2.52991e-16	4.0897e-16	0.870114	1	0
PCDHB16	57717	broad.mit.edu	37	5	140563898	140563898	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:140563898G>T	ENST00000361016.2	+	1	2919	c.1764G>T	c.(1762-1764)aaG>aaT	p.K588N		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		588	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGACCAAGGTGGTGGCGG	0.692000													14	15					3.32936e-07	4.17905e-07	0.539581	1	0
TSC2	7249	broad.mit.edu	37	16	2115637	2115637	+	Splice_Site	SNP	G	G	T	rs45517190		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:2115637G>T	ENST00000219476.3	+	16	2346		c.e16+1		TSC2_ENST00000353929.4_Splice_Site|TSC2_ENST00000568454.1_Splice_Site|TSC2_ENST00000401874.2_Splice_Site|TSC2_ENST00000439673.2_Splice_Site|TSC2_ENST00000382538.6_Splice_Site|TSC2_ENST00000350773.4_Splice_Site	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CATCCTTCAGGTGGGTGTTCT	0.642000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				18	51					2.21704e-12	3.31344e-12	0.639603	1	0
PCDHB5	26167	broad.mit.edu	37	5	140517283	140517283	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:140517283G>C	ENST00000231134.5	+	1	2484	c.2267G>C	c.(2266-2268)gGa>gCa	p.G756A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		756					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTTGACCGGAGACTCAGGG	0.607000													48	76					0	0	0.870114	0	0
CD5	921	broad.mit.edu	37	11	60886854	60886854	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:60886854C>A	ENST00000347785.3	+	5	778	c.612C>A	c.(610-612)ctC>ctA	p.L204L		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	204	SRCR 2.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GCAACAACCTCCAGTGTGGCT	0.607000													5	47					0.00198382	0.00212502	0.248553	1	0
DCHS2	54798	broad.mit.edu	37	4	155219643	155219643	+	Silent	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:155219643A>G	ENST00000357232.3	-	18	4457	c.4458T>C	c.(4456-4458)tcT>tcC	p.S1486S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1486	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTTCTCTCACAGAGGACTGGT	0.463000													21	87					0	0	0.654019	0	0
IGSF22	283284	broad.mit.edu	37	11	18739579	18739579	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:18739579G>T	ENST00000513874.1	-	9	1011	c.872C>A	c.(871-873)aCc>aAc	p.T291N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	291	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CATGTACTTGGTGCCCATCTG	0.532000													17	65					2.35188e-11	3.39365e-11	0.539581	1	0
TPO	7173	broad.mit.edu	37	2	1426896	1426896	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:1426896G>A	ENST00000345913.4	+	3	265	c.174G>A	c.(172-174)atG>atA	p.M58I	TPO_ENST00000349624.3_Missense_Mutation_p.M58I|TPO_ENST00000337415.3_Missense_Mutation_p.M58I|TPO_ENST00000539820.1_Missense_Mutation_p.M58I|TPO_ENST00000329066.4_Missense_Mutation_p.M58I|TPO_ENST00000346956.3_Missense_Mutation_p.M58I|TPO_ENST00000382201.3_Missense_Mutation_p.M58I|TPO_ENST00000382198.1_Missense_Mutation_p.M58I|TPO_ENST00000382269.3_Missense_Mutation_p.M58I|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	58					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			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)	ACGCCACGATGCAGAGGTGAG	0.597000													7	21					0	0	0.307466	0	0
MMP27	64066	broad.mit.edu	37	11	102562575	102562575	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:102562575C>G	ENST00000260229.4	-	10	1555	c.1464G>C	c.(1462-1464)aaG>aaC	p.K488N		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	488					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GATACAATATCTTTATGCCTC	0.299000													15	25					0	0	0.500413	0	0
UGT1A8	54576	broad.mit.edu	37	2	234526799	234526799	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:234526799C>A	ENST00000373450.4	+	1	509	c.446C>A	c.(445-447)cCt>cAt	p.P149H		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTCTTGATCCTTTTGATGCC	0.398000													21	100					1.28384e-07	1.63467e-07	0.608945	1	0
CRISP2	7180	broad.mit.edu	37	6	49660511	49660511	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:49660511C>A	ENST00000339139.4	-	10	943	c.707G>T	c.(706-708)tGc>tTc	p.C236F		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	236						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTCACATAGGCAAGTAGCCTT	0.398000													12	56					0.00136819	0.0014782	0.411799	1	0
BPIFB4	149954	broad.mit.edu	37	20	31685484	31685484	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:31685484C>A	ENST00000375483.3	+	11	1460	c.1460C>A	c.(1459-1461)cCa>cAa	p.P487Q		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	487						cytoplasm|extracellular region	lipid binding										CTGAACCCACCATCTGTGATG	0.592000													37	92					1.66425e-11	2.41533e-11	0.804634	1	0
IQUB	154865	broad.mit.edu	37	7	123101660	123101660	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:123101660C>A	ENST00000466202.1	-	11	2335		c.e11-1		IQUB_ENST00000324698.6_Splice_Site			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing											breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTTGAGGGACCTAAATAAATA	0.353000													5	5					0.217242	0.22002	0.217242	1	0
SVIL	6840	broad.mit.edu	37	10	29812817	29812817	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:29812817T>A	ENST00000375398.2	-	17	3175	c.2726A>T	c.(2725-2727)tAt>tTt	p.Y909F	SVIL_ENST00000355867.4_Missense_Mutation_p.Y909F|SVIL_ENST00000375400.3_Missense_Mutation_p.Y483F			O95425	SVIL_HUMAN	supervillin	909					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGAAAACTTATAGTCAGTGGC	0.468000													9	46					0	0	0.335167	0	0
CNGB3	54714	broad.mit.edu	37	8	87666257	87666257	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:87666257T>G	ENST00000320005.5	-	7	933	c.886A>C	c.(886-888)Act>Cct	p.T296P		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	296					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTGTAGAAGTCCTGTAGTGT	0.289000													36	40					0	0	0.847076	0	0
MYH4	4622	broad.mit.edu	37	17	10357003	10357003	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:10357003G>A	ENST00000255381.2	-	23	3001	c.2891C>T	c.(2890-2892)aCa>aTa	p.T964I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	964					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTGGCCAGTGTCAGCTCAAG	0.413000													38	277					0	0	0.847076	0	0
LYPD4	147719	broad.mit.edu	37	19	42341304	42341304	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:42341304C>T	ENST00000330743.3	-	5	1865	c.654G>A	c.(652-654)gaG>gaA	p.E218E	LYPD4_ENST00000343055.4_Silent_p.E183E|LYPD4_ENST00000601246.1_Silent_p.E183E	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	218	UPAR/Ly6.					anchored to membrane|plasma membrane		p.E218E(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						TCTGAGACTTCTCTAAGATGT	0.498000													29	110					0	0	0.740014	0	0
IQUB	154865	broad.mit.edu	37	7	123092812	123092812	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:123092812C>A	ENST00000466202.1	-	13	2937	c.2361G>T	c.(2359-2361)caG>caT	p.Q787H	IQUB_ENST00000324698.6_Missense_Mutation_p.Q787H			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	787										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GAGGAGGCCTCTGGGATTCTA	0.408000													14	24					3.27435e-08	4.29634e-08	0.457914	1	0
DACT1	51339	broad.mit.edu	37	14	59112634	59112634	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:59112634G>A	ENST00000395153.3	+	4	1329	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	DACT1_ENST00000541264.2_Silent_p.K150K|DACT1_ENST00000335867.4_Silent_p.K431K|DACT1_ENST00000556859.1_Silent_p.K150K|DACT1_ENST00000395151.3_Silent_p.K150K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	431					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCGAAAGCAAGAGGGTGCCCC	0.592000													11	34					0	0	0.411799	0	0
DOCK11	139818	broad.mit.edu	37	X	117786007	117786007	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:117786007C>T	ENST00000276204.6	+	42	4736	c.4662C>T	c.(4660-4662)atC>atT	p.I1554I	DOCK11_ENST00000276202.7_Silent_p.I1554I			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1554	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATTCATTATCAATAATTTTG	0.338000													5	11					0	0	0.184627	0	0
PCDH17	27253	broad.mit.edu	37	13	58207404	58207404	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:58207404G>C	ENST00000377918.3	+	1	750	c.724G>C	c.(724-726)Gtc>Ctc	p.V242L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	242	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAACAGCCCGGTCTTCGAGGC	0.607000													18	41					0	0	0.575678	0	0
TENM2	57451	broad.mit.edu	37	5	167379615	167379615	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:167379615G>T	ENST00000519204.1	+	3	490	c.372G>T	c.(370-372)caG>caT	p.Q124H	TENM2_ENST00000545108.1_Missense_Mutation_p.Q245H|TENM2_ENST00000520393.1_3'UTR|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000518659.1_Missense_Mutation_p.Q245H|TENM2_ENST00000403607.2_Missense_Mutation_p.Q78H|TENM2_ENST00000520394.1_Missense_Mutation_p.Q54H					teneurin transmembrane protein 2																		ACCACAGCCAGTCGACTCTGA	0.562000													8	2					5.18039e-06	6.20246e-06	0.278610	1	0
GLG1	2734	broad.mit.edu	37	16	74537629	74537629	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:74537629C>G	ENST00000422840.2	-	4	573	c.574G>C	c.(574-576)Gat>Cat	p.D192H	GLG1_ENST00000205061.5_Missense_Mutation_p.D192H|GLG1_ENST00000447066.2_Missense_Mutation_p.D181H	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	192						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACCGGTTCATCAGCACATTCT	0.388000													11	51					0	0	0.411799	0	0
CTC1	80169	broad.mit.edu	37	17	8140694	8140694	+	Splice_Site	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:8140694T>A	ENST00000315684.8	-	5	798	c.792_splice	c.e5+1	p.Q264_splice	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	264					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AGTCCTCACCTGCACGATGAT	0.498000													58	37					0	0	0.870114	0	0
POLQ	10721	broad.mit.edu	37	3	121206971	121206971	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:121206971G>C	ENST00000264233.5	-	16	4935	c.4807C>G	c.(4807-4809)Caa>Gaa	p.Q1603E		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1603					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGATCACCTTGGTGGTGCTCA	0.398000								DNA polymerases (catalytic subunits)					58	184					0	0	0.870114	0	0
NUDT13	25961	broad.mit.edu	37	10	74890529	74890529	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:74890529G>A	ENST00000357321.4	+	9	1045	c.927G>A	c.(925-927)ctG>ctA	p.L309L	NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000349051.5_Silent_p.L220L|NUDT13_ENST00000544879.1_Silent_p.L183L|NUDT13_ENST00000372997.3_3'UTR|NUDT13_ENST00000537969.1_Silent_p.L112L	NM_015901.4	NP_056985.3	Q86X67	NUD13_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 13	309	Nudix hydrolase.						hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					CCACAGCCCTGAAGAGAAAGG	0.493000													3	27					0	0	0.115264	0	0
CSMD2	114784	broad.mit.edu	37	1	34498244	34498244	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:34498244G>T	ENST00000373381.4	-	3	644	c.468C>A	c.(466-468)ctC>ctA	p.L156L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	116	Sushi 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGTCGCTGATGAGGCGCAGAG	0.547000													4	5					5.9392e-07	7.375e-07	0.217242	1	0
CD9	928	broad.mit.edu	37	12	6344465	6344465	+	Missense_Mutation	SNP	G	G	T	rs35799798	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:6344465G>T	ENST00000382518.1	+	6	855	c.419G>T	c.(418-420)cGg>cTg	p.R140L	CD9_ENST00000481267.1_3'UTR|CD9_ENST00000382515.2_Missense_Mutation_p.R71L|CD9_ENST00000009180.4_Missense_Mutation_p.R140L			P21926	CD9_HUMAN	CD9 molecule	140					cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GAGCCCCAGCGGGAAACGCTG	0.537000													31	46					1.61788e-16	2.62382e-16	0.760397	1	0
DMXL2	23312	broad.mit.edu	37	15	51855592	51855592	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:51855592C>A	ENST00000251076.5	-	6	840	c.553G>T	c.(553-555)Gct>Tct	p.A185S	DMXL2_ENST00000543779.2_Missense_Mutation_p.A185S|DMXL2_ENST00000449909.3_Missense_Mutation_p.A185S|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	185						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCAGCAGTAGCAAAATATTCA	0.303000													6	19					8.12818e-05	9.2046e-05	0.248553	1	0
MFSD2B	388931	broad.mit.edu	37	2	24239823	24239823	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:24239823C>G	ENST00000338315.4	+	4	456	c.456C>G	c.(454-456)ttC>ttG	p.F152L	MFSD2B_ENST00000406420.3_Missense_Mutation_p.F152L			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	152					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						ACTGCCTGTTCCAGGCCCTGG	0.647000													26	31					0	0	0.760397	0	0
CPS1	1373	broad.mit.edu	37	2	211527880	211527880	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:211527880G>T	ENST00000233072.5	+	33	4157	c.3961G>T	c.(3961-3963)Gct>Tct	p.A1321S	CPS1_ENST00000451903.2_Missense_Mutation_p.A870S|CPS1_ENST00000430249.2_Missense_Mutation_p.A1327S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1321					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GTTGAGGGATGCTGACCCCAT	0.398000													12	82					2.32078e-09	3.16949e-09	0.479597	1	0
OR5AS1	219447	broad.mit.edu	37	11	55798567	55798567	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55798567G>T	ENST00000313555.1	+	1	673	c.673G>T	c.(673-675)Gtg>Ttg	p.V225L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCTCATCACTGTGTTGAGCAT	0.448000													40	74					4.42602e-33	8.14323e-33	0.840704	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68234553	68234553	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:68234553T>A	ENST00000347230.4	-	31	5796	c.5658A>T	c.(5656-5658)ctA>ctT	p.L1886L	ZFYVE26_ENST00000555452.1_Silent_p.L1886L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1886					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGGAGCTGTCTAGAGCTGAGA	0.483000													24	65					0	0	0.681144	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97373523	97373523	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:97373523G>A	ENST00000371224.2	-	15	2036	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	ALDH18A1_ENST00000371221.3_Silent_p.I631I	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	633	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	GCATATCAATGATCTGGTCAA	0.443000													24	59					0	0	0.693898	0	0
CBLN4	140689	broad.mit.edu	37	20	54579045	54579045	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:54579045C>A	ENST00000064571.2	-	1	1483	c.183G>T	c.(181-183)ggG>ggT	p.G61G		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	61						cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			GGACCGATATCCCCAGCGGGG	0.632000													25	44					9.57634e-11	1.3571e-10	0.654019	1	0
ITGAL	3683	broad.mit.edu	37	16	30505629	30505629	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:30505629A>T	ENST00000356798.6	+	12	1490	c.1310A>T	c.(1309-1311)cAa>cTa	p.Q437L	ITGAL_ENST00000358164.5_Missense_Mutation_p.Q354L|ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	437					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CTGCTGTTCCAAGAGCCACAG	0.647000													13	30					0	0	0.435327	0	0
NAV3	89795	broad.mit.edu	37	12	78400474	78400474	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:78400474G>T	ENST00000397909.2	+	8	1329	c.1156G>T	c.(1156-1158)Gag>Tag	p.E386*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.E386*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.E386*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.E386*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	386						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATCCATGCTTGAGAAATTCAA	0.532000										HNSCC(70;0.22)			6	41					3.59834e-05	4.13712e-05	0.217242	1	0
C11orf82	220042	broad.mit.edu	37	11	82644525	82644525	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:82644525G>C	ENST00000533655.1	+	6	2357	c.2145G>C	c.(2143-2145)gaG>gaC	p.E715D	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Missense_Mutation_p.E414D|C11orf82_ENST00000430323.2_Missense_Mutation_p.E715D	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	715					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACCCTTCAGAGTCTGATTTTT	0.373000													12	60					0	0	0.387290	0	0
NFASC	23114	broad.mit.edu	37	1	204938073	204938073	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:204938073G>T	ENST00000367172.4	+	10	1294	c.966G>T	c.(964-966)atG>atT	p.M322I	NFASC_ENST00000539706.1_Missense_Mutation_p.M333I|NFASC_ENST00000404907.1_Missense_Mutation_p.M333I|NFASC_ENST00000401399.1_Missense_Mutation_p.M322I|NFASC_ENST00000403080.1_Missense_Mutation_p.M322I|NFASC_ENST00000367169.4_Missense_Mutation_p.M322I|NFASC_ENST00000360049.4_Missense_Mutation_p.M333I|NFASC_ENST00000404076.1_Missense_Mutation_p.M316I|NFASC_ENST00000338586.6_Missense_Mutation_p.M322I|NFASC_ENST00000339876.6_Missense_Mutation_p.M322I|NFASC_ENST00000338515.6_Missense_Mutation_p.M322I|NFASC_ENST00000367171.4_Missense_Mutation_p.M322I|NFASC_ENST00000513543.1_Missense_Mutation_p.M333I|NFASC_ENST00000367170.4_Missense_Mutation_p.M322I			O94856	NFASC_HUMAN	neurofascin	322	Ig-like C2-type 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAACAAGATGGGCAGCATCC	0.483000													27	46					7.11191e-15	1.11031e-14	0.769981	1	0
SIPA1L3	23094	broad.mit.edu	37	19	38572907	38572907	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:38572907G>C	ENST00000222345.6	+	3	1211	c.702G>C	c.(700-702)ggG>ggC	p.G234G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	234					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACGCCCGAGGGTGCCAGGCCC	0.697000													48	49					0	0	0.870114	0	0
MYOG	4656	broad.mit.edu	37	1	203054631	203054631	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:203054631C>T	ENST00000241651.4	-	1	533	c.459G>A	c.(457-459)ggG>ggA	p.G153G		NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	153					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CTGGCTGGGGCCCGCCCCCGC	0.692000													7	12					0	0	0.278610	0	0
HDAC9	9734	broad.mit.edu	37	7	18801852	18801852	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:18801852G>T	ENST00000406451.3	+	15	2257	c.2107G>T	c.(2107-2109)Ggc>Tgc	p.G703C	HDAC9_ENST00000401921.1_Missense_Mutation_p.G662C|HDAC9_ENST00000441542.2_Missense_Mutation_p.G706C|HDAC9_ENST00000432645.2_Missense_Mutation_p.G703C	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	703	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACTGTTGTATGGCACCAACCC	0.502000													8	24					3.09899e-07	3.89638e-07	0.307466	1	0
XRCC2	7516	broad.mit.edu	37	7	152345743	152345743	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:152345743C>G	ENST00000359321.1	-	3	912	c.827G>C	c.(826-828)gGg>gCg	p.G276A	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	276					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		AAATTCAACCCCACTTTCTCC	0.318000								Homologous recombination					5	23					0	0	0.184627	0	0
TTN	7273	broad.mit.edu	37	2	179430746	179430746	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179430746C>G	ENST00000589042.1	-	326	80337	c.80113G>C	c.(80113-80115)Gag>Cag	p.E26705Q	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17765Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17640Q|TTN_ENST00000342992.6_Missense_Mutation_p.E24137Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17832Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25064Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25064	Fibronectin type-III 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGTGGCTCCCATACCAGG	0.438000													23	95					0	0	0.667858	0	0
BAI3	577	broad.mit.edu	37	6	69640461	69640461	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:69640461G>A	ENST00000370598.1	+	4	1589	c.768G>A	c.(766-768)atG>atA	p.M256I		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	256					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATTTGGAATGATGGGAGATC	0.363000													9	16					0	0	0.307466	0	0
KCNH5	27133	broad.mit.edu	37	14	63174517	63174517	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:63174517A>T	ENST00000322893.7	-	11	2944	c.2676T>A	c.(2674-2676)gcT>gcA	p.A892A	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	892					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCTTGGCATCAGCCTGGATGG	0.517000													24	69					0	0	0.706142	0	0
FSTL5	56884	broad.mit.edu	37	4	162577522	162577522	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:162577522C>A	ENST00000306100.5	-	7	1288	c.852G>T	c.(850-852)agG>agT	p.R284S	FSTL5_ENST00000379164.4_Missense_Mutation_p.R283S|FSTL5_ENST00000536695.1_Missense_Mutation_p.R283S|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Missense_Mutation_p.R283S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	284	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TAATATTGTTCCTTTTCCAGA	0.348000													4	27					1.23904e-05	1.44667e-05	0.184627	1	0
SRP72	6731	broad.mit.edu	37	4	57340325	57340325	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:57340325G>C	ENST00000342756.5	+	4	1181	c.460G>C	c.(460-462)Gtt>Ctt	p.V154L	SRP72_ENST00000510663.1_Missense_Mutation_p.V154L|SRP72_ENST00000504757.1_Missense_Mutation_p.V154L	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	154					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CCTTTCAGCAGTTGTTGCAGC	0.393000													6	26					0	0	0.248553	0	0
HMCN1	83872	broad.mit.edu	37	1	185984364	185984364	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:185984364A>T	ENST00000271588.4	+	31	4933	c.4704A>T	c.(4702-4704)gaA>gaT	p.E1568D	HMCN1_ENST00000367492.2_Missense_Mutation_p.E1568D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1568	Ig-like C2-type 13.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTAAACTGGAATGTGAAACAC	0.398000													36	24					0	0	0.819951	0	0
GRID2	2895	broad.mit.edu	37	4	94547483	94547483	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:94547483G>T	ENST00000282020.4	+	14	2515	c.2257G>T	c.(2257-2259)Gac>Tac	p.D753Y	GRID2_ENST00000510992.1_Missense_Mutation_p.D658Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	753					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGCTATCAATGACCCAGATTG	0.373000													29	64					1.08312e-15	1.72863e-15	0.740014	1	0
TRIM24	8805	broad.mit.edu	37	7	138264263	138264263	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:138264263G>C	ENST00000343526.4	+	15	2786	c.2571G>C	c.(2569-2571)ttG>ttC	p.L857F	TRIM24_ENST00000415680.2_Missense_Mutation_p.L823F			O15164	TIF1A_HUMAN	tripartite motif containing 24	857					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGCCCACATTGACAAATTTTC	0.388000													17	37					0	0	0.608945	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455761	5455761	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:5455761C>A	ENST00000222033.4	+	1	336	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	87						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAAAGCCTTGCTGGTCTTGTC	0.672000													17	38					2.48551e-13	3.78229e-13	0.520397	1	0
RNF17	56163	broad.mit.edu	37	13	25406056	25406056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:25406056G>T	ENST00000255324.5	+	18	2474	c.2422G>T	c.(2422-2424)Gaa>Taa	p.E808*	RNF17_ENST00000381921.1_Nonsense_Mutation_p.E808*	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	808					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTGGTCCAAAGAAGCTAAAGA	0.289000													13	27					7.93312e-07	9.81854e-07	0.457914	1	0
MGA	23269	broad.mit.edu	37	15	42000361	42000361	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:42000361G>T	ENST00000219905.7	+	7	2561	c.2380G>T	c.(2380-2382)Gga>Tga	p.G794*	MGA_ENST00000545763.1_Nonsense_Mutation_p.G794*|MGA_ENST00000570161.1_Nonsense_Mutation_p.G794*|MGA_ENST00000389936.4_Nonsense_Mutation_p.G794*|MGA_ENST00000566586.1_Nonsense_Mutation_p.G794*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	794						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TAAGATCAAGGGATGGAGGGG	0.343000													3	5					0.004672	0.00490332	0.115264	1	0
ANXA11	311	broad.mit.edu	37	10	81930597	81930597	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:81930597T>A	ENST00000438331.1	-	5	612	c.130A>T	c.(130-132)Acc>Tcc	p.T44S	ANXA11_ENST00000537102.1_Missense_Mutation_p.T11S|ANXA11_ENST00000422982.3_Missense_Mutation_p.T44S|ANXA11_ENST00000535999.1_Missense_Mutation_p.T44S|ANXA11_ENST00000360615.4_Missense_Mutation_p.T44S|ANXA11_ENST00000372231.3_Missense_Mutation_p.T44S|ANXA11_ENST00000265447.4_Missense_Mutation_p.T44S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	44					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CCCGCATAGGTGGCCACGTTA	0.632000													22	56					0	0	0.654019	0	0
ZNF804B	219578	broad.mit.edu	37	7	88847495	88847495	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:88847495A>T	ENST00000333190.4	+	2	744	c.135A>T	c.(133-135)gcA>gcT	p.A45A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	45						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGTCCACAGCAAAGGCCCTGG	0.348000										HNSCC(36;0.09)			13	31					0	0	0.457914	0	0
NUAK2	81788	broad.mit.edu	37	1	205272824	205272824	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:205272824G>T	ENST00000367157.3	-	7	1767	c.1641C>A	c.(1639-1641)agC>agA	p.S547R		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	547					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGGACAGGATGCTGTCCTCGC	0.682000													12	34					0.000308642	0.000340797	0.479597	1	0
HIVEP3	59269	broad.mit.edu	37	1	42047384	42047384	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:42047384C>A	ENST00000372584.1	-	3	4099	c.3085G>T	c.(3085-3087)Gtg>Ttg	p.V1029L	HIVEP3_ENST00000429157.2_Missense_Mutation_p.V1029L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.V1029L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.V1029L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1029	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGTGGAGCCACTGGGGCTGGA	0.587000													11	34					1.08611e-07	1.38878e-07	0.387290	1	0
CREBZF	58487	broad.mit.edu	37	11	85375702	85375702	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:85375702A>T	ENST00000527447.1	-	1	444	c.218T>A	c.(217-219)gTg>gAg	p.V73E	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	73					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GCGCACGGCCACGCCGCCGCG	0.711000													11	41					0	0	0.387290	0	0
NRXN1	9378	broad.mit.edu	37	2	50850560	50850560	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:50850560C>A	ENST00000404971.1	-	7	2464	c.1125G>T	c.(1123-1125)ctG>ctT	p.L375L	NRXN1_ENST00000401669.2_Silent_p.L342L|NRXN1_ENST00000405472.3_Silent_p.L342L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.L342L|NRXN1_ENST00000406316.2_Silent_p.L342L|NRXN1_ENST00000402717.3_Silent_p.L342L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	342	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AATTAATGACCAGAGAGACAG	0.443000													38	77					2.26627e-22	3.95678e-22	0.834066	1	0
ZNF287	57336	broad.mit.edu	37	17	16455682	16455682	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:16455682A>G	ENST00000395824.1	-	6	2391	c.1774T>C	c.(1774-1776)Tat>Cat	p.Y592H	ZNF287_ENST00000395825.3_Missense_Mutation_p.Y592H			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	585					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTACATATATAGGATTTCTCT	0.378000													35	41					0	0	0.840704	0	0
GLYCTK	132158	broad.mit.edu	37	3	52326349	52326349	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:52326349G>T	ENST00000354773.4	+	4	699	c.603G>T	c.(601-603)caG>caT	p.Q201H	GLYCTK_ENST00000477382.1_Missense_Mutation_p.Q201H|GLYCTK_ENST00000305690.8_Missense_Mutation_p.S260I|GLYCTK_ENST00000461183.1_Missense_Mutation_p.S176I|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000471180.1_Missense_Mutation_p.S133I|GLYCTK_ENST00000436784.2_Missense_Mutation_p.S260I|GLYCTK-AS1_ENST00000493616.1_RNA	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN	glycerate kinase	0					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		ACCGTGGCCAGTTCCCACAAT	0.612000													15	19					4.14922e-12	6.14623e-12	0.500413	1	0
VWA3B	200403	broad.mit.edu	37	2	98872621	98872621	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:98872621C>A	ENST00000477737.1	+	21	3031	c.2827C>A	c.(2827-2829)Caa>Aaa	p.Q943K	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	943										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGCATTATCTCAAGAGGAAAA	0.323000													6	51					0.00198382	0.00212502	0.248553	1	0
ZNF287	57336	broad.mit.edu	37	17	16466476	16466476	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:16466476T>A	ENST00000395824.1	-	5	1316	c.699A>T	c.(697-699)ttA>ttT	p.L233F	ZNF287_ENST00000395825.3_Missense_Mutation_p.L233F			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	226					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TAGGGCCTTCTAAAATTTCTT	0.358000													31	21					0	0	0.804634	0	0
SLC36A3	285641	broad.mit.edu	37	5	150682911	150682911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:150682911G>T	ENST00000335230.3	-	1	416	c.5C>A	c.(4-6)tCa>tAa	p.S2*	SLC36A3_ENST00000377713.3_Nonsense_Mutation_p.S2*	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	2						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAAGCAATGACATCTTCAA	0.517000													32	33					2.2871e-25	4.07347e-25	0.834066	1	0
SOX7	83595	broad.mit.edu	37	8	10583411	10583411	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:10583411T>C	ENST00000304501.1	-	2	1082	c.1004A>G	c.(1003-1005)tAt>tGt	p.Y335C	SOX7_ENST00000554914.1_Missense_Mutation_p.Y387C|SOX7_ENST00000553390.1_Missense_Mutation_p.Y387C	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	335	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AGTGTTCAAATACTGGTCGAA	0.617000													10	30					0	0	0.435327	0	0
CDH15	1013	broad.mit.edu	37	16	89245932	89245932	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:89245932C>A	ENST00000289746.2	+	2	216	c.151C>A	c.(151-153)Ccg>Acg	p.P51T	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	51					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGTCATCCCCCCGATCAGCGT	0.687000													10	34					1.08611e-07	1.38878e-07	0.387290	1	0
TRPM8	79054	broad.mit.edu	37	2	234878934	234878934	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:234878934G>T	ENST00000324695.4	+	17	2259	c.2219G>T	c.(2218-2220)tGg>tTg	p.W740L	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	740						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTCTTCTCCTGGAATGTGGTC	0.552000													143	149					7.33161e-80	1.41281e-79	0.870114	1	0
OR51G1	79324	broad.mit.edu	37	11	4944844	4944844	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:4944844G>T	ENST00000321961.2	-	1	793	c.726C>A	c.(724-726)acC>acA	p.T242T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGAGACACAGGTGTTGAGGG	0.552000													15	76					8.28177e-16	1.32596e-15	0.557998	1	0
DSEL	92126	broad.mit.edu	37	18	65178663	65178663	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:65178663C>A	ENST00000310045.7	-	2	4686	c.3213G>T	c.(3211-3213)ttG>ttT	p.L1071F	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1061						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTATTTTAAACAATTTTGCTA	0.333000													10	17					2.17888e-05	2.52636e-05	0.335167	1	0
TEP1	7011	broad.mit.edu	37	14	20849739	20849739	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:20849739C>A	ENST00000262715.5	-	31	4571	c.4531G>T	c.(4531-4533)Gag>Tag	p.E1511*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.E1403*|TEP1_ENST00000545983.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1511					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCGTGTCCTCTAGCCCTGGC	0.647000													36	102					2.95478e-19	4.9631e-19	0.840704	1	0
PSG11	5680	broad.mit.edu	37	19	43519460	43519460	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:43519460C>T	ENST00000401740.1	-	4	875	c.772G>A	c.(772-774)Gac>Aac	p.D258N	PSG11_ENST00000403486.1_Missense_Mutation_p.D136N|PSG11_ENST00000320078.7_Missense_Mutation_p.D258N|PSG11_ENST00000306322.7_Missense_Mutation_p.D136N			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	258	Ig-like C2-type 2.				female pregnancy	extracellular region		p.D258Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CAGGACAAGTCGAGGTTCTCT	0.448000													40	138					0	0	0.834066	0	0
OR51I2	390064	broad.mit.edu	37	11	5474804	5474804	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:5474804G>A	ENST00000341449.2	+	1	167	c.86G>A	c.(85-87)gGg>gAg	p.G29E	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTGTCAGGGCCCCTCTGC	0.547000													11	39					0	0	0.479597	0	0
SLC35F6	54978	broad.mit.edu	37	2	26997191	26997191	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:26997191G>T	ENST00000344420.5	+	2	212	c.150_splice	c.e2+1	p.Q50_splice	CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000482746.1_Intron|SLC35F6_ENST00000416475.2_Splice_Site_p.A25_splice	NM_017877.3	NP_060347.2			solute carrier family 35, member F6																		CCTTCCTCCAGGTATCTGGCC	0.627000													10	44					6.40141e-05	7.28203e-05	0.387290	1	0
GPR156	165829	broad.mit.edu	37	3	119905592	119905592	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:119905592G>A	ENST00000464295.1	-	6	958	c.513C>T	c.(511-513)gcC>gcT	p.A171A	GPR156_ENST00000461057.1_Silent_p.A171A|GPR156_ENST00000315843.3_Silent_p.A171A			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	171						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCATCAACAGGGCTGCCACCA	0.512000													42	115					0	0	0.870114	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704301	56704301	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:56704301C>A	ENST00000586855.2	-	2	434	c.121G>T	c.(121-123)Gag>Tag	p.E41*	ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.E41*			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	41					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGCCAAGTCTCAGGGTTCCTG	0.572000													14	6					4.36969e-10	6.08361e-10	0.435327	1	0
GSDMC	56169	broad.mit.edu	37	8	130762748	130762748	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:130762748G>T	ENST00000276708.4	-	11	1893	c.1012C>A	c.(1012-1014)Cag>Aag	p.Q338K		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	338						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						ATGACATCCTGAACATCCTTT	0.493000													46	40					2.43468e-25	4.3312e-25	0.870114	1	0
GPR25	2848	broad.mit.edu	37	1	200842882	200842882	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:200842882G>C	ENST00000304244.2	+	1	800	c.717G>C	c.(715-717)cgG>cgC	p.R239R		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	239						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GTCGGGCCCGGAGGAACTCGC	0.692000													21	61					0	0	0.717897	0	0
EIF4G2	1982	broad.mit.edu	37	11	10827457	10827457	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:10827457C>G	ENST00000526148.1	-	4	755	c.245G>C	c.(244-246)aGa>aCa	p.R82T	EIF4G2_ENST00000525681.1_Missense_Mutation_p.R82T|EIF4G2_ENST00000396525.2_Missense_Mutation_p.R82T|EIF4G2_ENST00000339995.5_Missense_Mutation_p.R82T|EIF4G2_ENST00000525995.1_5'UTR	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	82	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AACTTACCCTCTTACTTTCCT	0.433000													51	124					0	0	0.870114	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229325	90229325	+	RNA	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:90229325G>A	ENST00000390278.2	+	0	165																											CTGGGCAAGTGAGGGCATTAG	0.468000													21	36					0	0	0.575678	0	0
RPL28	6158	broad.mit.edu	37	19	55899329	55899329	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:55899329G>T	ENST00000558131.1	+	3	226	c.218G>T	c.(217-219)gGa>gTa	p.G73V	RPL28_ENST00000560583.1_Silent_p.R79R|RPL28_ENST00000558815.1_Silent_p.R79R|RPL28_ENST00000344063.2_Silent_p.R79R|RPL28_ENST00000560055.1_Silent_p.R79R|RPL28_ENST00000458349.2_Silent_p.R79R|RPL28_ENST00000559463.1_Silent_p.R79R			P46779	RL28_HUMAN	ribosomal protein L28	0					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		CCTATGTGCGGACCACCATCA	0.612000													77	61					1.67174e-50	3.18882e-50	0.870114	1	0
HIST1H1E	3008	broad.mit.edu	37	6	26157278	26157278	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:26157278G>A	ENST00000304218.3	+	1	720	c.660G>A	c.(658-660)taG>taA	p.*220*		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	0					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AGAAAAAGTAGAAAGTTCCTT	0.527000													6	20					0	0	0.248553	0	0
ATP6V1A	523	broad.mit.edu	37	3	113524372	113524372	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:113524372G>T	ENST00000273398.3	+	14	1869	c.1761_splice	c.e14+1	p.K587_splice	ATP6V1A_ENST00000538620.1_Splice_Site_p.K554_splice|ATP6V1A_ENST00000461496.1_3'UTR	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	587					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGAAATTCAAGGTATATTTTG	0.378000													8	33					0.00307968	0.00326403	0.278610	1	0
TDP1	55775	broad.mit.edu	37	14	90489400	90489400	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:90489400G>A	ENST00000393452.3	+	16	1968	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K	TDP1_ENST00000393454.2_Intron|TDP1_ENST00000555880.1_Intron|TDP1_ENST00000335725.4_Intron|TDP1_ENST00000357382.3_Intron			Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	558					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		aataaaggatgaagtggaggc	0.502000								Repair of DNA-protein crosslinks					4	14					0	0	0.184627	0	0
KCNF1	3754	broad.mit.edu	37	2	11053234	11053234	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:11053234G>T	ENST00000295082.1	+	1	1172	c.682G>T	c.(682-684)Gcg>Tcg	p.A228S		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	228						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CGTGGAGACGGCGTGCATTGG	0.627000													19	46					1.15919e-05	1.36295e-05	0.575678	1	0
ABCC11	85320	broad.mit.edu	37	16	48212508	48212508	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:48212508C>A	ENST00000394747.1	-	23	3697	c.3348_splice	c.e23+1	p.K1116_splice	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Splice_Site_p.K1116_splice|ABCC11_ENST00000353782.5_Splice_Site_p.K1116_splice|ABCC11_ENST00000394748.1_Splice_Site_p.K1116_splice	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1116						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGAACCCCACCTTCATGTACT	0.582000													14	92					0.0383953	0.0393899	0.539581	1	0
TRIOBP	11078	broad.mit.edu	37	22	38109231	38109231	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:38109231C>T	ENST00000406386.3	+	5	524	c.269C>T	c.(268-270)tCa>tTa	p.S90L	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	90					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCATCCCCCTCAGCAGGGCTC	0.622000													5	10					0	0	0.184627	0	0
DYSF	8291	broad.mit.edu	37	2	71741043	71741043	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:71741043G>T	ENST00000258104.3	+	6	932	c.655G>T	c.(655-657)Gat>Tat	p.D219Y	DYSF_ENST00000410041.1_Missense_Mutation_p.D251Y|DYSF_ENST00000409366.1_Missense_Mutation_p.D220Y|DYSF_ENST00000409762.1_Missense_Mutation_p.D250Y|DYSF_ENST00000394120.2_Missense_Mutation_p.D220Y|DYSF_ENST00000409744.1_Missense_Mutation_p.D220Y|DYSF_ENST00000413539.2_Missense_Mutation_p.D250Y|DYSF_ENST00000409582.3_Missense_Mutation_p.D250Y|DYSF_ENST00000429174.2_Missense_Mutation_p.D219Y|DYSF_ENST00000409651.1_Missense_Mutation_p.D251Y|DYSF_ENST00000410020.3_Missense_Mutation_p.D251Y	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	219	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAAACCGCAGGATTTCCAGGT	0.572000													12	37					9.05144e-12	1.32643e-11	0.435327	1	0
MTUS2	23281	broad.mit.edu	37	13	29608058	29608058	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:29608058C>A	ENST00000431530.3	+	2	2330	c.2272C>A	c.(2272-2274)Cct>Act	p.P758T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	748	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GTTTTGTTCTCCTCCCTATGC	0.443000													4	12					0.00909568	0.00948649	0.150653	1	0
C1orf43	25912	broad.mit.edu	37	1	154180095	154180095	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:154180095C>A	ENST00000368521.5	-	7	794	c.596G>T	c.(595-597)cGa>cTa	p.R199L	C1orf43_ENST00000368519.1_Missense_Mutation_p.R181L|C1orf43_ENST00000350592.3_Missense_Mutation_p.R165L|C1orf43_ENST00000362076.4_Missense_Mutation_p.R147L|C1orf43_ENST00000483282.1_5'UTR	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	199						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CTGGTGATGTCGCTGAGAGCT	0.512000													14	70					7.93312e-07	9.81854e-07	0.457914	1	0
ESPNP	284729	broad.mit.edu	37	1	17017716	17017716	+	RNA	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:17017716T>C	ENST00000492551.1	-	0	2011					NR_026567.1																						GGCTCACCTCTCTTCTTCCAG	0.622000													5	30					0	0	0.184627	0	0
GHDC	84514	broad.mit.edu	37	17	40344963	40344963	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:40344963G>A	ENST00000301671.8	-	3	789	c.348C>T	c.(346-348)ccC>ccT	p.P116P	GHDC_ENST00000587427.1_Silent_p.P116P|GHDC_ENST00000414034.3_Silent_p.P116P|GHDC_ENST00000436923.2_Silent_p.P116P|GHDC_ENST00000428494.2_Intron|GHDC_ENST00000593209.1_Silent_p.P116P			Q8N2G8	GHDC_HUMAN	GH3 domain containing	116						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TTGAGGTCGGGGGCAGTGGCT	0.592000													39	111					0	0	0.827153	0	0
TTN	7273	broad.mit.edu	37	2	179432829	179432829	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179432829C>T	ENST00000589042.1	-	326	78254	c.78030G>A	c.(78028-78030)caG>caA	p.Q26010Q	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.Q17070Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.Q16945Q|TTN_ENST00000342992.6_Silent_p.Q23442Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.Q17137Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.Q24369Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24369	Fibronectin type-III 89.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCATGCCACTGTATGACCA	0.448000													7	46					0	0	0.307466	0	0
SGK223	157285	broad.mit.edu	37	8	8234233	8234233	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:8234233C>T	ENST00000520004.1	-	3	1950	c.1686G>A	c.(1684-1686)ggG>ggA	p.G562G	SGK223_ENST00000330777.4_Silent_p.G562G			Q86YV5	SG223_HUMAN		562							ATP binding|non-membrane spanning protein tyrosine kinase activity										ACACTGGGGGCCCTCCAGCAG	0.652000													11	32					0	0	0.411799	0	0
LRP1B	53353	broad.mit.edu	37	2	141110584	141110584	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:141110584C>G	ENST00000389484.3	-	76	12559	c.11588G>C	c.(11587-11589)gGa>gCa	p.G3863A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3863	EGF-like 9.				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)		TTTATATGATCCTTCCACATT	0.338000										TSP Lung(27;0.18)			31	73					0	0	0.779181	0	0
MT1JP	4498	broad.mit.edu	37	16	56669682	56669682	+	RNA	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:56669682G>A	ENST00000564564.1	+	0	8																											TGCGCCTTGCGGTCTCTCCAT	0.632000													8	28					0	0	0.278610	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167416710	167416710	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:167416710G>C	ENST00000366847.3	+	3	417	c.186G>C	c.(184-186)ctG>ctC	p.L62L	FGFR1OP_ENST00000476078.1_3'UTR|FGFR1OP_ENST00000349556.4_Silent_p.L62L	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	62					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		ATGAGAGCCTGAAAAAGTTTT	0.284000			T	FGFR1	"""MPD, NHL"""								4	19					0	0	0.150653	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173855632	173855632	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:173855632G>C	ENST00000264111.6	+	15	1653	c.1466G>C	c.(1465-1467)gGa>gCa	p.G489A	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G490A|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.G490A|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G346A|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G337A|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G319A|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.G270A|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G337A|RAPGEF4_ENST00000473043.1_3'UTR			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	490					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCTAATCAAGGAAACTCACAG	0.433000													14	31					0	0	0.520397	0	0
NCAM1	4684	broad.mit.edu	37	11	113111555	113111555	+	Splice_Site	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:113111555A>G	ENST00000401611.2	+	16	1885	c.1885_splice	c.e16+1	p.T629_splice	NCAM1_ENST00000533760.1_Intron|NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000397957.4_Intron			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	354	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCCACCAGATAGTGAGTATCA	0.438000													21	125					0	0	0.681144	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148374	70148374	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:70148374G>T	ENST00000374299.3	-	4	783	c.639C>A	c.(637-639)gaC>gaA	p.D213E	SLC7A3_ENST00000298085.4_Missense_Mutation_p.D213E			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	213					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGTTGTGCACGTCCCCCTTAA	0.517000													6	2					8.12818e-05	9.2046e-05	0.248553	1	0
SMAD6	4091	broad.mit.edu	37	15	67073688	67073688	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:67073688A>T	ENST00000288840.5	+	4	2337	c.1306A>T	c.(1306-1308)Atc>Ttc	p.I436F	SMAD6_ENST00000338426.4_Missense_Mutation_p.I175F	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	436	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CGGCTACTCCATCAAGGTGTT	0.721000													4	14					0	0	0.150653	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072823	17072823	+	Nonsense_Mutation	SNP	G	G	T	rs137862002		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:17072823G>T	ENST00000359963.3	-	1	877	c.618C>A	c.(616-618)tgC>tgA	p.C206*		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	206					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.C206C(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGGCAGCGCGCACACCCCAA	0.617000													16	70					2.35188e-11	3.39365e-11	0.539581	1	0
SYT11	23208	broad.mit.edu	37	1	155851170	155851170	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:155851170G>C	ENST00000368324.4	+	4	1420	c.1167G>C	c.(1165-1167)aaG>aaC	p.K389N	SYT11_ENST00000539162.1_Missense_Mutation_p.K82N	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	389	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GCACCACCAAGAATGAGGTGG	0.562000													70	166					0	0	0.870114	0	0
HTR7	3363	broad.mit.edu	37	10	92508793	92508793	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:92508793C>A	ENST00000371721.3	-	2	1340	c.1098G>T	c.(1096-1098)gaG>gaT	p.E366D	HTR7_ENST00000277874.6_Missense_Mutation_p.E366D|HTR7_ENST00000336152.3_Missense_Mutation_p.E366D|HTR7_ENST00000371719.2_Missense_Mutation_p.E366D			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	366					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GAAATGTCCTCTCCACCCACA	0.542000													23	77					6.32553e-13	9.55816e-13	0.681144	1	0
TRPM1	4308	broad.mit.edu	37	15	31294741	31294741	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:31294741C>T	ENST00000542188.1	-	27	4526	c.4213G>A	c.(4213-4215)Gaa>Aaa	p.E1405K	TRPM1_ENST00000397795.2_Missense_Mutation_p.E1366K|TRPM1_ENST00000256552.6_Missense_Mutation_p.E1388K|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1366					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTCTGTCTTTCATCATCTTCC	0.378000													20	51					0	0	0.592651	0	0
ZNF236	7776	broad.mit.edu	37	18	74610973	74610973	+	Splice_Site	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:74610973A>G	ENST00000253159.8	+	11	1882		c.e11-1		ZNF236_ENST00000320610.9_Splice_Site	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236						cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CATTTTTATTAGGAGTTAGAC	0.323000													14	16					0	0	0.479597	0	0
NLGN1	22871	broad.mit.edu	37	3	173997229	173997229	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:173997229G>T	ENST00000457714.1	+	6	1867	c.1438G>T	c.(1438-1440)Ggt>Tgt	p.G480C	NLGN1_ENST00000401917.3_Missense_Mutation_p.G520C|NLGN1_ENST00000361589.4_Missense_Mutation_p.G480C|NLGN1_ENST00000545397.1_Missense_Mutation_p.G480C	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	497					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTCAAACTTTGGTTCACCTAC	0.488000													13	31					6.72482e-11	9.60233e-11	0.479597	1	0
XKR4	114786	broad.mit.edu	37	8	56436132	56436132	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:56436132C>A	ENST00000327381.5	+	3	1399	c.1299C>A	c.(1297-1299)ttC>ttA	p.F433L		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	433						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGATTGTGTTCGACATGGTGG	0.443000													142	121					8.12643e-88	1.57201e-87	0.870114	1	0
AGL	178	broad.mit.edu	37	1	100368266	100368266	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:100368266G>A	ENST00000294724.4	+	27	4094	c.3616G>A	c.(3616-3618)Gaa>Aaa	p.E1206K	AGL_ENST00000361522.4_Missense_Mutation_p.E1189K|AGL_ENST00000370165.3_Missense_Mutation_p.E1206K|AGL_ENST00000361302.3_Missense_Mutation_p.E1190K|AGL_ENST00000370163.3_Missense_Mutation_p.E1206K|AGL_ENST00000361915.3_Missense_Mutation_p.E1206K|AGL_ENST00000370161.2_Missense_Mutation_p.E1190K	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1206					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGTCATACAGGAAGCAATGCA	0.408000													10	37					0	0	0.435327	0	0
ANPEP	290	broad.mit.edu	37	15	90335755	90335755	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:90335755T>C	ENST00000300060.6	-	17	2601	c.2288A>G	c.(2287-2289)aAc>aGc	p.N763S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	763	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TGGAACTCCGTTGGAGCAGGC	0.577000													5	54					0	0	0.184627	0	0
OR4K15	81127	broad.mit.edu	37	14	20444345	20444345	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:20444345T>G	ENST00000305051.5	+	1	743	c.668T>G	c.(667-669)aTa>aGa	p.I223R		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCTTACTAATAGTTGCAGAT	0.423000													35	101					0	0	0.819951	0	0
CERS6	253782	broad.mit.edu	37	2	169571583	169571583	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:169571583G>A	ENST00000305747.6	+	7	1269	c.682G>A	c.(682-684)Gcc>Acc	p.A228T	CERS6_ENST00000392687.4_Missense_Mutation_p.A228T	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	228	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CAACAATATGGCCCGAGTAGG	0.363000													42	46					0	0	0.870114	0	0
CSMD3	114788	broad.mit.edu	37	8	113402892	113402892	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:113402892C>A	ENST00000297405.5	-	36	6179		c.e36+1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATATTCTTACTTGAATGCCA	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	60					0.307466	0.310353	0.307466	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14752572	14752572	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:14752572C>A	ENST00000358984.4	+	2	409	c.229C>A	c.(229-231)Cta>Ata	p.L77I	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.L77I|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	77										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAGGACTGCTCTACACTGGGC	0.443000													4	25					0.184627	0.18724	0.184627	1	0
HIF3A	64344	broad.mit.edu	37	19	46832479	46832479	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:46832479G>T	ENST00000339613.2	+	12	1543	c.1288G>T	c.(1288-1290)Gat>Tat	p.D430Y	HIF3A_ENST00000420102.2_Missense_Mutation_p.D435Y|HIF3A_ENST00000244303.6_Missense_Mutation_p.D417Y|HIF3A_ENST00000300862.3_Missense_Mutation_p.D484Y|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.D417Y|HIF3A_ENST00000377670.4_Missense_Mutation_p.D486Y|HIF3A_ENST00000472815.1_Intron			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TGATGCTCTGGATTTGGAGAT	0.587000													31	93					4.4194e-11	6.34052e-11	0.769981	1	0
CX3CR1	1524	broad.mit.edu	37	3	39307287	39307287	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:39307287G>A	ENST00000541347.1	-	2	953	c.714C>T	c.(712-714)atC>atT	p.I238I	CX3CR1_ENST00000542107.1_Silent_p.I238I|CX3CR1_ENST00000358309.3_Silent_p.I270I|CX3CR1_ENST00000399220.2_Silent_p.I238I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	238					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.I238I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGAAAAACACGATGACCACCA	0.428000													9	25					0	0	0.307466	0	0
TRPC4	7223	broad.mit.edu	37	13	38211604	38211604	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:38211604C>A	ENST00000379705.3	-	11	3227	c.2370G>T	c.(2368-2370)aaG>aaT	p.K790N	TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.K617N|TRPC4_ENST00000379681.3_Missense_Mutation_p.K795N|TRPC4_ENST00000379679.1_Missense_Mutation_p.K617N|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000426868.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	790	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AATTCTTTTTCTTGTCCTTGC	0.428000													10	48					0.0692343	0.0708827	0.361761	1	0
GSG1L	146395	broad.mit.edu	37	16	27840137	27840137	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:27840137G>T	ENST00000380898.2	-	5	887	c.338C>A	c.(337-339)cCt>cAt	p.P113H	GSG1L_ENST00000447459.2_Missense_Mutation_p.P268H|GSG1L_ENST00000569166.1_Missense_Mutation_p.P113H|GSG1L_ENST00000395724.3_Missense_Mutation_p.P217H|GSG1L_ENST00000380897.3_Missense_Mutation_p.P113H			Q6UXU4	GSG1L_HUMAN	GSG1-like	268						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GATGGCCTCAGGGTCTATGAA	0.607000													26	40					6.04164e-23	1.05852e-22	0.750413	1	0
DLGAP2	9228	broad.mit.edu	37	8	1497625	1497625	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:1497625G>A	ENST00000421627.2	+	2	900	c.766G>A	c.(766-768)Ggg>Agg	p.G256R		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	335					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GAGCCCCTTCGGGGACCTGTC	0.672000													13	62					0	0	0.557998	0	0
OR4C15	81309	broad.mit.edu	37	11	55321886	55321886	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55321886G>T	ENST00000314644.2	+	1	104	c.104G>T	c.(103-105)tGt>tTt	p.C35F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATTTTCCTTTGTCCTAATTGC	0.378000										HNSCC(20;0.049)			9	68					2.74318e-10	3.84761e-10	0.335167	1	0
ABCB5	340273	broad.mit.edu	37	7	20698288	20698288	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:20698288G>C	ENST00000404938.2	+	14	2348	c.1696G>C	c.(1696-1698)Gca>Cca	p.A566P	ABCB5_ENST00000406935.1_Missense_Mutation_p.A121P|ABCB5_ENST00000443026.2_Missense_Mutation_p.A121P|ABCB5_ENST00000258738.6_Missense_Mutation_p.A121P	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	121					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGTTCAAGCTGCACTGGAGAA	0.408000													10	27					0	0	0.435327	0	0
MDS2	259283	broad.mit.edu	37	1	23965672	23965672	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:23965672C>T	ENST00000374555.3	+	5	664	c.77C>T	c.(76-78)tCa>tTa	p.S26L	MDS2_ENST00000477916.1_Intron					myelodysplastic syndrome 2 translocation associated											breast(1)|ovary(2)	3						GGAGTTTTATCAAGCCAGATT	0.463000			T	ETV6	MDS								6	6					0	0	0.248553	0	0
EYS	346007	broad.mit.edu	37	6	66205301	66205301	+	Translation_Start_Site	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:66205301C>G	ENST00000503581.1	-	4	540	c.3G>C	c.(1-3)atG>atC	p.M1I	EYS_ENST00000370618.3_Start_Codon_SNP_p.M1I|EYS_ENST00000370621.3_Start_Codon_SNP_p.M1I|EYS_ENST00000393380.2_Start_Codon_SNP_p.M1I|EYS_ENST00000370616.2_Start_Codon_SNP_p.M1I|EYS_ENST00000342421.5_Start_Codon_SNP_p.M1I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTTGTCAGTCATTTTCGGGT	0.368000													6	19					0	0	0.248553	0	0
FSTL5	56884	broad.mit.edu	37	4	162680600	162680600	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:162680600G>T	ENST00000306100.5	-	6	1126	c.690C>A	c.(688-690)gaC>gaA	p.D230E	FSTL5_ENST00000379164.4_Missense_Mutation_p.D229E|FSTL5_ENST00000536695.1_Missense_Mutation_p.D229E|FSTL5_ENST00000427802.2_Missense_Mutation_p.D229E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	230	EF-hand 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCAGGTGCTTGTCAGCATTAA	0.333000													13	28					4.36969e-10	6.08361e-10	0.435327	1	0
MADD	8567	broad.mit.edu	37	11	47312232	47312232	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:47312232G>T	ENST00000342922.4	+	19	3523	c.3166G>T	c.(3166-3168)Ggg>Tgg	p.G1056W	MADD_ENST00000349238.3_Missense_Mutation_p.G1076W|MADD_ENST00000395344.3_Missense_Mutation_p.G1013W|MADD_ENST00000402799.1_Missense_Mutation_p.G1013W|MADD_ENST00000407859.3_Missense_Mutation_p.G1033W|MADD_ENST00000395336.3_Missense_Mutation_p.G1076W|MADD_ENST00000402192.2_Missense_Mutation_p.G1056W|MADD_ENST00000406482.1_Missense_Mutation_p.G1013W|MADD_ENST00000311027.5_Missense_Mutation_p.G1076W	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1076					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TGGCCTAGCTGGGCGGGGGGA	0.537000													7	35					0.00307968	0.00326403	0.278610	1	0
C9orf131	138724	broad.mit.edu	37	9	35044853	35044853	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:35044853C>A	ENST00000312292.5	+	2	2274	c.2227C>A	c.(2227-2229)Cgc>Agc	p.R743S	C9orf131_ENST00000421362.2_Missense_Mutation_p.R695S|C9orf131_ENST00000354479.5_Missense_Mutation_p.R670S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	743										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GAAGATTGAACGCACTCATCC	0.592000													28	35					2.09667e-21	3.61039e-21	0.788014	1	0
CDH4	1002	broad.mit.edu	37	20	60508126	60508126	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:60508126G>A	ENST00000360469.5	+	14	2411	c.2323G>A	c.(2323-2325)Gac>Aac	p.D775N	CDH4_ENST00000543233.1_Missense_Mutation_p.D701N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	775					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCCGAGGACGACGTCCGCGA	0.662000													29	56					0	0	0.804634	0	0
DPYD	1806	broad.mit.edu	37	1	97658647	97658647	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:97658647C>A	ENST00000370192.3	-	20	2700	c.2600G>T	c.(2599-2601)cGt>cTt	p.R867L	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	867					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCAGCTATACGTGGAACTGG	0.423000													10	43					1.3612e-06	1.68057e-06	0.479597	1	0
OR52N4	390072	broad.mit.edu	37	11	5776462	5776462	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:5776462C>T	ENST00000317254.3	+	1	540	c.492C>T	c.(490-492)ctC>ctT	p.L164L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTACTTTCCTCACCAAGCTCC	0.463000													27	50					0	0	0.769981	0	0
LMX1A	4009	broad.mit.edu	37	1	165175158	165175158	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:165175158G>C	ENST00000342310.3	-	8	1313	c.931C>G	c.(931-933)Ccc>Gcc	p.P311A	LMX1A_ENST00000367893.4_Missense_Mutation_p.P311A|LMX1A_ENST00000294816.2_Missense_Mutation_p.P311A|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	311						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGTCGGAAGGGATCTGAGCTG	0.587000													11	62					0	0	0.361761	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652129	121652129	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:121652129C>A	ENST00000393386.2	+	12	3440	c.3029C>A	c.(3028-3030)aCa>aAa	p.T1010K	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1010					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTACCTGACACAGATGGGCTG	0.428000													14	67					9.31168e-06	1.10347e-05	0.435327	1	0
COL22A1	169044	broad.mit.edu	37	8	139767420	139767420	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:139767420G>T	ENST00000303045.6	-	21	2457	c.2011C>A	c.(2011-2013)Ccc>Acc	p.P671T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P671T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	671	Collagen-like 4.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGAGGACCGGGGGCGCCTTGG	0.557000										HNSCC(7;0.00092)			23	68					1.5548e-18	2.58847e-18	0.693898	1	0
CLRN2	645104	broad.mit.edu	37	4	17524522	17524522	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:17524522C>T	ENST00000511148.2	+	2	391	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	97						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CAACGCAGGCCTTCATGTGAT	0.532000													38	130					0	0	0.870114	0	0
NDST4	64579	broad.mit.edu	37	4	115773937	115773937	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:115773937C>T	ENST00000264363.2	-	8	2438	c.1760G>A	c.(1759-1761)aGa>aAa	p.R587K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	587	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTTTTCTCTCTGGACCAGAT	0.353000													9	21					0	0	0.361761	0	0
BMP1	649	broad.mit.edu	37	8	22035416	22035416	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:22035416G>C	ENST00000306385.5	+	6	1452	c.782G>C	c.(781-783)gGg>gCg	p.G261A	BMP1_ENST00000306349.8_Missense_Mutation_p.G261A|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.G261A|BMP1_ENST00000397816.3_Missense_Mutation_p.G261A	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	261	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GAGTCCCTGGGGGAGACCTAT	0.607000													30	133					0	0	0.788014	0	0
USP15	9958	broad.mit.edu	37	12	62715334	62715334	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:62715334G>C	ENST00000280377.5	+	5	623	c.565G>C	c.(565-567)Gaa>Caa	p.E189Q	USP15_ENST00000353364.3_Missense_Mutation_p.E189Q|USP15_ENST00000393654.3_Missense_Mutation_p.E189Q|USP15_ENST00000312635.6_Missense_Mutation_p.E189Q|USP15_ENST00000550632.1_3'UTR	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	189					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAACACATTTGAACCACTGAA	0.328000													8	25					0	0	0.387290	0	0
CRISP3	10321	broad.mit.edu	37	6	49701533	49701533	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:49701533C>T	ENST00000433368.2	-	5	444	c.375G>A	c.(373-375)atG>atA	p.M125I	CRISP3_ENST00000393666.1_Missense_Mutation_p.M102I|CRISP3_ENST00000423399.2_Missense_Mutation_p.M12I|CRISP3_ENST00000263045.4_Missense_Mutation_p.M115I|CRISP3_ENST00000371159.4_Missense_Mutation_p.M133I	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	102					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AGGCACTTGACATGTAGAGAT	0.438000													23	60					0	0	0.693898	0	0
TOP2A	7153	broad.mit.edu	37	17	38556818	38556818	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:38556818A>G	ENST00000423485.1	-	22	2920	c.2762T>C	c.(2761-2763)aTt>aCt	p.I921T		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	921					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TGAGATTTCAATGGTTGTAGA	0.353000													8	11					0	0	0.335167	0	0
NID2	22795	broad.mit.edu	37	14	52495533	52495533	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:52495533C>A	ENST00000216286.5	-	11	2436	c.2437G>T	c.(2437-2439)Ggc>Tgc	p.G813C	NID2_ENST00000541773.1_Missense_Mutation_p.G760C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	813	EGF-like 3; calcium-binding (Potential).					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GAGTTGGGGCCACAGCGATGA	0.448000													11	40					9.70103e-10	1.34439e-09	0.361761	1	0
ANTXR1	84168	broad.mit.edu	37	2	69302789	69302789	+	Splice_Site	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:69302789A>T	ENST00000303714.4	+	7	882	c.561_splice	c.e7+1	p.Q187_splice	ANTXR1_ENST00000409829.3_Splice_Site_p.Q187_splice|ANTXR1_ENST00000409349.3_Splice_Site_p.Q187_splice	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	187	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AATGAGACACAGGTATGGTAA	0.408000									Familial Infantile Hemangioma				52	110					0	0	0.870114	0	0
DAB2IP	153090	broad.mit.edu	37	9	124534959	124534959	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:124534959G>T	ENST00000408936.3	+	12	2334	c.2152G>T	c.(2152-2154)Ggg>Tgg	p.G718W	DAB2IP_ENST00000309989.1_Missense_Mutation_p.G594W|DAB2IP_ENST00000259371.2_Missense_Mutation_p.G690W			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	718					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AAGGTCCTCCGGGGTCCAGCC	0.567000													21	33					1.50039e-11	2.17962e-11	0.608945	1	0
IRF4	3662	broad.mit.edu	37	6	398857	398857	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:398857T>C	ENST00000380956.4	+	6	793	c.667T>C	c.(667-669)Tgt>Cgt	p.C223R		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	223					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CTTTTATGCTTGTGCCCCACC	0.567000			T	IGH@	MM								7	20					0	0	0.335167	0	0
CSMD3	114788	broad.mit.edu	37	8	113966912	113966912	+	Splice_Site	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:113966912C>T	ENST00000297405.5	-	8	1665		c.e8+1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTACACTCACAGATAGAAAA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	14					0	0	0.639603	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84561559	84561559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:84561559C>A	ENST00000286744.5	+	13	1610	c.1386C>A	c.(1384-1386)tgC>tgA	p.C462*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.C462*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	462	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AATGGAAGTGCATGTACGCAC	0.473000													8	21					1.58986e-06	1.95486e-06	0.361761	1	0
XIST	7503	broad.mit.edu	37	X	73062796	73062796	+	RNA	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:73062796G>C	ENST00000429829.1	-	0	9792					NR_001564.2																						ATGACACCATGGCTACCTGTG	0.453000													22	18					0	0	0.624587	0	0
LHX6	26468	broad.mit.edu	37	9	124976561	124976561	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:124976561C>A	ENST00000559895.1	-	3	1014		c.e3+1		LHX6_ENST00000541397.2_Splice_Site|LHX6_ENST00000373754.2_Splice_Site|LHX6_ENST00000394319.4_Splice_Site|LHX6_ENST00000340587.3_Splice_Site|LHX6_ENST00000373755.2_Splice_Site	NM_001242335.1	NP_001229264.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6						cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						TGCAGCGGTACCTGCAGCTGT	0.731000													7	15					0.000442599	0.000486924	0.335167	1	0
EDNRA	1909	broad.mit.edu	37	4	148463699	148463699	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:148463699A>T	ENST00000324300.5	+	8	1728	c.1213A>T	c.(1213-1215)Atc>Ttc	p.I405F	EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000358556.4_Missense_Mutation_p.I296F|EDNRA_ENST00000511804.1_Missense_Mutation_p.I180F|EDNRA_ENST00000506066.1_Missense_Mutation_p.I296F|EDNRA_ENST00000339690.5_3'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	405					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CGGAACAAGCATCCAGTGGAA	0.532000													27	53					0	0	0.706142	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43203164	43203164	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:43203164C>G	ENST00000263245.5	-	14	1545	c.1326G>C	c.(1324-1326)gaG>gaC	p.E442D	ARFGAP3_ENST00000437119.2_Missense_Mutation_p.E398D|ARFGAP3_ENST00000429508.2_Missense_Mutation_p.E370D	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	442					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						GGGCCCTGGTCTCATACTAGA	0.502000													4	12					0	0	0.150653	0	0
OR7D4	125958	broad.mit.edu	37	19	9325228	9325228	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:9325228C>A	ENST00000308682.2	-	1	314	c.286G>T	c.(286-288)Ggg>Tgg	p.G96W		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GTGAGGCACCCCATGTAGGAG	0.507000													13	22					0.0242445	0.0249576	0.479597	1	0
FIBCD1	84929	broad.mit.edu	37	9	133799139	133799139	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:133799139C>A	ENST00000372338.4	-	4	1083	c.841G>T	c.(841-843)Ggc>Tgc	p.G281C	FIBCD1_ENST00000372337.2_Missense_Mutation_p.G123C|FIBCD1_ENST00000448616.1_Missense_Mutation_p.G281C|FIBCD1_ENST00000253018.4_Missense_Mutation_p.G123C	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	281	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		ACCGTCCAGCCGCCGCCGTCC	0.672000													7	6					0.307466	0.310353	0.307466	1	0
FAM83H	286077	broad.mit.edu	37	8	144811213	144811213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:144811213C>A	ENST00000388913.3	-	4	786	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	221					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAGGACTTCCCAGTGCGGCAG	0.652000													79	104					1.59803e-59	3.06764e-59	0.870114	1	0
PLXNA2	5362	broad.mit.edu	37	1	208391011	208391011	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:208391011C>A	ENST00000367033.3	-	2	1014	c.257G>T	c.(256-258)gGg>gTg	p.G86V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	86	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTCTTCTGGCCCTGTCTTATG	0.567000													39	39					1.02687e-29	1.86197e-29	0.864702	1	0
TBC1D31	93594	broad.mit.edu	37	8	124162330	124162330	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:124162330A>T	ENST00000287380.1	+	21	3119	c.3029A>T	c.(3028-3030)cAa>cTa	p.Q1010L	TBC1D31_ENST00000522420.1_Missense_Mutation_p.Q905L|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000521676.1_Missense_Mutation_p.Q887L|TBC1D31_ENST00000309336.3_Missense_Mutation_p.Q945L|TBC1D31_ENST00000518805.1_Missense_Mutation_p.Q564L|TBC1D31_ENST00000327098.5_Missense_Mutation_p.Q914L	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		AGAACCTCACAATTAAATGAC	0.353000													27	31					0	0	0.788014	0	0
SYT11	23208	broad.mit.edu	37	1	155851152	155851152	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:155851152C>A	ENST00000368324.4	+	4	1402	c.1149C>A	c.(1147-1149)gaC>gaA	p.D383E	SYT11_ENST00000539162.1_Missense_Mutation_p.D76E	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	383	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TCGTTATCGACTTCGATCGCA	0.527000													191	130					1.91102e-82	3.68729e-82	0.870114	1	0
PGC	5225	broad.mit.edu	37	6	41710072	41710072	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:41710072C>G	ENST00000373025.3	-	5	665	c.603G>C	c.(601-603)caG>caC	p.Q201H	PGC_ENST00000425343.2_Missense_Mutation_p.Q201H	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	201					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGGCGCCCTCCTGCACCATGC	0.647000													24	71					0	0	0.693898	0	0
C2CD3	26005	broad.mit.edu	37	11	73759293	73759293	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:73759293C>A	ENST00000334126.7	-	28	5678	c.5452G>T	c.(5452-5454)Gct>Tct	p.A1818S	C2CD3_ENST00000313663.7_Missense_Mutation_p.A1818S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1818						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GAGGCATGAGCAAGTTGGTCT	0.468000													8	13					1.76689e-08	2.33876e-08	0.335167	1	0
EPHA8	2046	broad.mit.edu	37	1	22927454	22927454	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:22927454C>A	ENST00000166244.3	+	15	2674	c.2602C>A	c.(2602-2604)Cac>Aac	p.H868N		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	868	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCACGCCCTGCACCAGCTCAT	0.677000													24	52					1.50538e-07	1.91351e-07	0.706142	1	0
NR1H4	9971	broad.mit.edu	37	12	100926300	100926300	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:100926300G>A	ENST00000548884.1	+	5	1051	c.510G>A	c.(508-510)gtG>gtA	p.V170V	NR1H4_ENST00000392986.3_Silent_p.V170V|NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000188403.7_Silent_p.V180V|NR1H4_ENST00000551379.1_Silent_p.V180V	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	180					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GCAACTGTGTGATGGATATGT	0.413000													9	69					0	0	0.387290	0	0
OR5D13	390142	broad.mit.edu	37	11	55540930	55540930	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55540930G>C	ENST00000361760.1	+	1	17	c.17G>C	c.(16-18)aGa>aCa	p.R6T		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R6I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCATCTGAAAGAAATCAAAGC	0.378000													10	73					0	0	0.479597	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178428	140178428	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:140178428C>A	ENST00000458420.3	+	7	1229	c.1039C>A	c.(1039-1041)Ctg>Atg	p.L347M	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	347					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GACTGCAGGACTGCTGGTGGA	0.557000										HNSCC(16;0.037)			23	47					1.42536e-11	2.08066e-11	0.681144	1	0
NGEF	25791	broad.mit.edu	37	2	233791857	233791857	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:233791857C>A	ENST00000264051.3	-	4	701	c.423G>T	c.(421-423)gaG>gaT	p.E141D	NGEF_ENST00000409079.1_Missense_Mutation_p.E49D|NGEF_ENST00000373552.4_Missense_Mutation_p.E49D	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	141	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CCGGCCACTCCTCGGGCGTGG	0.632000													10	49					7.03913e-09	9.40842e-09	0.411799	1	0
NDST4	64579	broad.mit.edu	37	4	115751022	115751022	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:115751022C>A	ENST00000264363.2	-	13	3101	c.2423G>T	c.(2422-2424)tGt>tTt	p.C808F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	808	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CAGTAATTGACACCAAAAACC	0.348000													8	31					1.06961e-07	1.37705e-07	0.278610	1	0
NAV3	89795	broad.mit.edu	37	12	78401054	78401054	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:78401054G>T	ENST00000397909.2	+	8	1909	c.1736G>T	c.(1735-1737)tGt>tTt	p.C579F	NAV3_ENST00000266692.7_Missense_Mutation_p.C579F|NAV3_ENST00000536525.2_Missense_Mutation_p.C579F|NAV3_ENST00000228327.6_Missense_Mutation_p.C579F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	579						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCTTCTAGTTGTCCTGCCCCT	0.507000										HNSCC(70;0.22)			11	34					0.000978159	0.00106291	0.387290	1	0
KCNK16	83795	broad.mit.edu	37	6	39285716	39285716	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:39285716A>T	ENST00000425054.2	-	3	340	c.341T>A	c.(340-342)cTg>cAg	p.L114Q	KCNK16_ENST00000373229.5_Missense_Mutation_p.L114Q|KCNK16_ENST00000507712.1_Missense_Mutation_p.L49Q|KCNK16_ENST00000437525.2_Missense_Mutation_p.L114Q|KCNK16_ENST00000373227.4_Missense_Mutation_p.L114Q	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	114						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GCTGGGTGCCAGGTTCCCATA	0.567000													14	19					0	0	0.557998	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171232	68171232	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:68171232G>T	ENST00000243457.3	+	2	435	c.52G>T	c.(52-54)Ggt>Tgt	p.G18C	KCNJ2_ENST00000535240.1_Missense_Mutation_p.G18C	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	18					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGAAGAAGACGGTATGAAGTT	0.522000													21	34					1.9806e-07	2.51544e-07	0.624587	1	0
TRAV30	28652	broad.mit.edu	37	14	22636677	22636677	+	RNA	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:22636677A>T	ENST00000557168.1	+	0	130																											CATCAACTGCAGTTCCTCCAA	0.498000													11	23					0	0	0.387290	0	0
TRBV28	28559	broad.mit.edu	37	7	142428868	142428868	+	RNA	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:142428868A>T	ENST00000390400.2	+	0	248																											TGAAAGAAAAAGGAGATATTC	0.458000													3	31					0	0	0.150653	0	0
SEC23IP	11196	broad.mit.edu	37	10	121674267	121674267	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:121674267G>T	ENST00000369075.3	+	7	1410	c.1338G>T	c.(1336-1338)ttG>ttT	p.L446F	SEC23IP_ENST00000543134.1_Missense_Mutation_p.L235F	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	446					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TTGACCATTTGGTGTTTGTGG	0.373000													71	130					4.45923e-32	8.1644e-32	0.870114	1	0
CCND2	894	broad.mit.edu	37	12	4385191	4385191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:4385191C>A	ENST00000261254.3	+	2	485	c.216C>A	c.(214-216)tgC>tgA	p.C72*	RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	72	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			AACAGAAGTGCGAAGAAGAGG	0.532000			T	IGL@	"""NHL,CLL"""								9	70					1.08611e-07	1.38878e-07	0.387290	1	0
MT-CYB	4519	broad.mit.edu	37	MT	15611	15611	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrM:15611G>A	ENST00000361789.2	+	1	865	c.865G>A	c.(865-867)Gga>Aga	p.289_289insR						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CTAACAAACTAGGAGGCGTCC	0.458000											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	36	49					0	0	0.870114	0	0
OAS2	4939	broad.mit.edu	37	12	113448195	113448195	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:113448195G>T	ENST00000342315.4	+	11	2280	c.2066G>T	c.(2065-2067)gGa>gTa	p.G689V	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_3'UTR	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	689					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CAGACACCAGGAAGTTGTGGA	0.383000													69	152					1.50986e-39	2.83335e-39	0.870114	1	0
CSPG4	1464	broad.mit.edu	37	15	75981130	75981130	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:75981130A>G	ENST00000308508.5	-	3	2368	c.2276T>C	c.(2275-2277)cTg>cCg	p.L759P		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	759	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTCCAGGGCCAGGTTCTCCAC	0.637000													7	19					0	0	0.278610	0	0
MIR300	100126297	broad.mit.edu	37	14	101507763	101507763	+	RNA	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:101507763G>T	ENST00000401138.1	+	0	64					NR_030582.1																						TACAAGGGCAGACTCTCTCTG	0.502000													30	60					1.56442e-22	2.73455e-22	0.760397	1	0
USH2A	7399	broad.mit.edu	37	1	216595374	216595374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:216595374G>T	ENST00000366943.2	-	2	691	c.305C>A	c.(304-306)tCa>tAa	p.S102*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.S102*|USH2A_ENST00000366942.3_Nonsense_Mutation_p.S102*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	102					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGGCCTGCTGAGAAAAGGGC	0.463000										HNSCC(13;0.011)			6	54					0.0215528	0.0222019	0.217242	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84608662	84608662	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:84608662C>T	ENST00000344803.2	+	4	3324	c.3277C>T	c.(3277-3279)Cca>Tca	p.P1093S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCTGCCCCCGCCACACAGCAT	0.517000													8	22					0	0	0.307466	0	0
LRP1B	53353	broad.mit.edu	37	2	141680656	141680656	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:141680656C>A	ENST00000389484.3	-	21	4168	c.3197G>T	c.(3196-3198)tGc>tTc	p.C1066F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1066	LDL-receptor class A 8.				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)		ATCAGGAACGCAATTACCATC	0.438000										TSP Lung(27;0.18)			10	58					3.86212e-05	4.42688e-05	0.361761	1	0
ZNF454	285676	broad.mit.edu	37	5	178392082	178392082	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:178392082A>T	ENST00000320129.3	+	5	980	c.677A>T	c.(676-678)cAc>cTc	p.H226L	ZNF454_ENST00000519564.1_Missense_Mutation_p.H226L	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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)	all cancers(165;0.234)		AAAGCCTTTCACCAGAGTACG	0.373000													22	43					0	0	0.681144	0	0
FARP1	10160	broad.mit.edu	37	13	99092923	99092923	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:99092923G>T	ENST00000376586.2	+	25	3058		c.e25-1		FARP1_ENST00000595437.1_Splice_Site|FARP1_ENST00000319562.6_Splice_Site			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)						regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCATCCTGTAGAGTCCCCTGA	0.632000													5	37					8.12818e-05	9.2046e-05	0.248553	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125877422	125877422	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:125877422C>A	ENST00000393434.2	-	3	537	c.188G>T	c.(187-189)gGa>gTa	p.G63V	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G63V|ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G63V|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G73V|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.G63V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	63	GART.			G -> A (in Ref. 1; AAC35000).	10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CAAAGCCTGTCCTTTTGCACG	0.547000													30	73					2.05212e-20	3.48189e-20	0.812448	1	0
EMILIN2	84034	broad.mit.edu	37	18	2891683	2891683	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:2891683G>T	ENST00000254528.3	+	4	1717	c.1558G>T	c.(1558-1560)Ggg>Tgg	p.G520W		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	520					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAGTCCCCCAGGGGCAGCAGC	0.507000													17	49					2.23348e-06	2.72178e-06	0.500413	1	0
MIR496	574454	broad.mit.edu	37	14	101526925	101526925	+	RNA	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:101526925C>A	ENST00000385226.1	+	0	16					NR_030176.1																						GTCAGGTACTCGAATGGAGGT	0.522000													5	11					0.0215528	0.0222019	0.217242	1	0
PIK3R4	30849	broad.mit.edu	37	3	130398210	130398210	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:130398210C>A	ENST00000356763.3	-	20	4583	c.4026G>T	c.(4024-4026)caG>caT	p.Q1342H		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1342					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CGATGAAGCCCTGTGTGGTCT	0.428000													11	25					7.03913e-09	9.40842e-09	0.411799	1	0
GPLD1	2822	broad.mit.edu	37	6	24445964	24445964	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:24445964G>C	ENST00000230036.1	-	19	2026	c.1916C>G	c.(1915-1917)tCt>tGt	p.S639C		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	639						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTTGTCTCCAGAAATGGTAAA	0.473000													40	69					0	0	0.870114	0	0
IGLJ3	28831	broad.mit.edu	37	22	23247198	23247198	+	RNA	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:23247198C>G	ENST00000390324.2	+	0	169																											CCAAGCTGACCGTCCTAGGTG	0.552000													12	73					0	0	0.520397	0	0
FZD10	11211	broad.mit.edu	37	12	130648479	130648479	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:130648479C>A	ENST00000539839.1	+	1	1476	c.894C>A	c.(892-894)caC>caA	p.H298Q	FZD10_ENST00000229030.4_Missense_Mutation_p.T331K	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GTGGTCCTCACGCTCACCTGG	0.647000													8	31					0.000274275	0.000303965	0.307466	1	0
ELP4	26610	broad.mit.edu	37	11	31671690	31671690	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:31671690G>T	ENST00000395934.2	+	9	1071	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L	ELP4_ENST00000379163.5_Missense_Mutation_p.R356L|Z83001.1_ENST00000429821.1_RNA|ELP4_ENST00000350638.5_Missense_Mutation_p.R355L			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	355					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CAGATTCCTCGGCTTAATAAC	0.284000													4	33					4.096e-09	5.53862e-09	0.217242	1	0
RAC2	5880	broad.mit.edu	37	22	37622726	37622726	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:37622726C>G	ENST00000249071.6	-	6	687	c.566G>C	c.(565-567)tGc>tCc	p.C189S	RAC2_ENST00000406508.1_Missense_Mutation_p.C145S|RAC2_ENST00000405484.1_Missense_Mutation_p.C182S	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	189					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						GAGGAGGCTGCAGGCGCGCTT	0.632000													8	20					0	0	0.278610	0	0
IKZF2	22807	broad.mit.edu	37	2	213921620	213921620	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:213921620C>T	ENST00000457361.1	-	4	511	c.343G>A	c.(343-345)Gac>Aac	p.D115N	IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000434687.1_Missense_Mutation_p.D115N|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000342002.2_Missense_Mutation_p.D121N|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000413091.3_Missense_Mutation_p.D115N	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CCACAGACGTCACATTTCAGT	0.498000													20	58					0	0	0.608945	0	0
GABRG3	2567	broad.mit.edu	37	15	27772703	27772703	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:27772703G>C	ENST00000333743.6	+	8	1244	c.990G>C	c.(988-990)gcG>gcC	p.A330A	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	330					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TCTTCGCCGCGCTGATGGAGT	0.552000													4	7					0	0	0.184627	0	0
FBXO39	162517	broad.mit.edu	37	17	6683462	6683462	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:6683462T>A	ENST00000321535.4	+	2	405	c.275T>A	c.(274-276)cTg>cAg	p.L92Q		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	92										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CTGGAGCACCTGGAGGTCAAA	0.483000													101	52					0	0	0.870114	0	0
DAB1	1600	broad.mit.edu	37	1	57476916	57476916	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:57476916G>C	ENST00000371236.2	-	13	1737	c.1474C>G	c.(1474-1476)Cca>Gca	p.P492A	DAB1_ENST00000371231.1_Missense_Mutation_p.P525A|DAB1_ENST00000371234.4_Missense_Mutation_p.P492A|DAB1_ENST00000420954.2_Missense_Mutation_p.P490A|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.P474A|DAB1_ENST00000439789.2_Missense_Mutation_p.P406A			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	525					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GATTTGGATGGAGAGCTCTGT	0.488000													11	67					0	0	0.435327	0	0
CCDC178	374864	broad.mit.edu	37	18	30791939	30791939	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:30791939C>A	ENST00000383096.3	-	20	2341	c.2159G>T	c.(2158-2160)tGt>tTt	p.C720F	CCDC178_ENST00000579947.1_Missense_Mutation_p.C720F|CCDC178_ENST00000403303.1_Missense_Mutation_p.C720F|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.C682F|CCDC178_ENST00000402325.1_Missense_Mutation_p.C720F|CCDC178_ENST00000583930.1_Missense_Mutation_p.C720F|CCDC178_ENST00000406524.2_Missense_Mutation_p.C720F					coiled-coil domain containing 178																		TCTCTCTTCACAGTCTTTTTT	0.333000													7	13					1.26484e-09	1.74003e-09	0.278610	1	0
RTP2	344892	broad.mit.edu	37	3	187419766	187419766	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:187419766G>T	ENST00000358241.1	-	1	579	c.151C>A	c.(151-153)Cac>Aac	p.H51N		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	51					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCTGAGGCGTGCTGCTCCAGG	0.622000													27	81					4.06085e-26	7.28436e-26	0.717897	1	0
GPR85	54329	broad.mit.edu	37	7	112723809	112723809	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:112723809G>T	ENST00000501255.2	-	3	1591	c.968C>A	c.(967-969)gCt>gAt	p.A323D	GPR85_ENST00000297146.2_Missense_Mutation_p.A323D|GPR85_ENST00000449591.1_Missense_Mutation_p.A323D|GPR85_ENST00000424100.1_Missense_Mutation_p.A323D	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	323						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCAGACAGCAGCTGTTAGAAA	0.483000													19	28					1.00905e-13	1.53862e-13	0.575678	1	0
AFAP1L1	134265	broad.mit.edu	37	5	148712335	148712335	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:148712335G>C	ENST00000296721.4	+	17	2151	c.2053G>C	c.(2053-2055)Gac>Cac	p.D685H	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.D685H	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	685							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCGGATTGACCTGGAGCT	0.592000													5	21					0	0	0.217242	0	0
FAM47A	158724	broad.mit.edu	37	X	34148498	34148498	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:34148498G>T	ENST00000346193.3	-	1	1949	c.1898C>A	c.(1897-1899)cCc>cAc	p.P633H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	633										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCTGTACTTGGGGGTAAAGTC	0.443000													17	16					3.52763e-06	4.25067e-06	0.520397	1	0
INA	9118	broad.mit.edu	37	10	105046872	105046872	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:105046872G>T	ENST00000369849.4	+	2	1195	c.1146G>T	c.(1144-1146)ttG>ttT	p.L382F		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	382	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACCAGGACTTGCTCAATGTCA	0.483000													10	32					2.17888e-05	2.52636e-05	0.335167	1	0
LRP1B	53353	broad.mit.edu	37	2	141260667	141260667	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:141260667G>T	ENST00000389484.3	-	54	9498	c.8527C>A	c.(8527-8529)Cga>Aga	p.R2843R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2843					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R2843R(1)		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)		CCACACTGTCGATATCCTAGA	0.398000										TSP Lung(27;0.18)			4	49					0.00116845	0.00126512	0.217242	1	0
SERPINA7	6906	broad.mit.edu	37	X	105280605	105280605	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:105280605C>G	ENST00000327674.4	-	1	780	c.445G>C	c.(445-447)Gat>Cat	p.D149H	SERPINA7_ENST00000372563.1_Missense_Mutation_p.D149H			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	149					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCTTGACATCATTCAAGAAC	0.428000													22	38					0	0	0.681144	0	0
FBN1	2200	broad.mit.edu	37	15	48718036	48718036	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:48718036G>T	ENST00000316623.5	-	59	7685	c.7230C>A	c.(7228-7230)caC>caA	p.H2410Q		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2410	EGF-like 41; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCAAACATCGTGAATAACCT	0.343000													9	65					7.48243e-07	9.28364e-07	0.335167	1	0
IFITM2	10581	broad.mit.edu	37	11	309045	309045	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:309045C>T	ENST00000399817.4	+	2	309	c.279C>T	c.(277-279)acC>acT	p.T93T	IFITM2_ENST00000533141.1_Silent_p.T73T|IFITM2_ENST00000602569.1_Silent_p.T73T	NM_006435.2	NP_006426.2	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	93					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCGACGTGACCGGGGCCCAGG	0.602000													4	33					0	0	0.361761	0	0
ACSBG1	23205	broad.mit.edu	37	15	78487043	78487043	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:78487043G>T	ENST00000258873.4	-	3	463	c.258C>A	c.(256-258)gcC>gcA	p.A86A	ACSBG1_ENST00000558828.1_5'UTR|ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	86					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCCGCCCATCGGCCCGAGTCG	0.642000													15	59					0.000566183	0.000621521	0.520397	1	0
MUC15	143662	broad.mit.edu	37	11	26582746	26582746	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:26582746G>A	ENST00000436318.2	-	4	1085	c.952C>T	c.(952-954)Cct>Tct	p.P318S	ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.P291S|ANO3_ENST00000529242.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.P268S|MUC15_ENST00000529533.1_Missense_Mutation_p.P318S|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.P268S			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	291						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ACATCATAAGGTTCCGGTGCA	0.378000													3	28					0	0	0.150653	0	0
GP2	2813	broad.mit.edu	37	16	20335338	20335338	+	Missense_Mutation	SNP	C	C	A	rs147629855	by1000genomes	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:20335338C>A	ENST00000302555.5	-	3	484	c.335G>T	c.(334-336)cGa>cTa	p.R112L	GP2_ENST00000381362.4_Missense_Mutation_p.R112L|GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	112						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGTCTGGCATCGGTGCACCTG	0.597000													23	58					7.92952e-12	1.16542e-11	0.667858	1	0
CRB2	286204	broad.mit.edu	37	9	126125366	126125366	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:126125366A>C	ENST00000373631.3	+	2	318	c.317A>C	c.(316-318)gAg>gCg	p.E106A	CRB2_ENST00000359999.3_Missense_Mutation_p.E106A	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	106	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCACGCTGCGAGCTGGACATC	0.672000													11	9					0	0	0.411799	0	0
SETBP1	26040	broad.mit.edu	37	18	42281594	42281594	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:42281594G>T	ENST00000282030.5	+	2	579	c.283G>T	c.(283-285)Gag>Tag	p.E95*	SETBP1_ENST00000426838.4_Nonsense_Mutation_p.E95*	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	95						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TTCTATCAAGGAGGCAAACTT	0.478000									Schinzel-Giedion syndrome				25	40					5.45727e-16	8.75607e-16	0.729181	1	0
HOXB5	3215	broad.mit.edu	37	17	46669576	46669576	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:46669576G>C	ENST00000239151.5	-	2	1083	c.805C>G	c.(805-807)Ccc>Gcc	p.P269A	HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000480872.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	269						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						CGGGCTCAGGGCTGGAAGGCG	0.657000													15	50					0	0	0.500413	0	0
BICC1	80114	broad.mit.edu	37	10	60573602	60573602	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:60573602T>C	ENST00000373886.3	+	18	2393	c.2389T>C	c.(2389-2391)Tcc>Ccc	p.S797P	BICC1_ENST00000263103.1_Missense_Mutation_p.S423P	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	797					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CTCATCCATGTCCCTTTCACG	0.458000													29	71					0	0	0.796494	0	0
POLE	5426	broad.mit.edu	37	12	133225973	133225973	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:133225973C>A	ENST00000320574.5	-	31	3967	c.3924G>T	c.(3922-3924)cgG>cgT	p.R1308R	POLE_ENST00000535270.1_Silent_p.R1281R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1308					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CAGGACCATCCCGGATGGCCC	0.647000								DNA polymerases (catalytic subunits)					11	26					3.86212e-05	4.42688e-05	0.361761	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298782	125298782	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:125298782C>A	ENST00000538699.1	-	2	1206	c.1126G>T	c.(1126-1128)Gac>Tac	p.D376Y	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.D376Y	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	376										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCGCGGATGTCATAGAAGAGC	0.647000													12	25					1.3612e-06	1.68057e-06	0.479597	1	0
KMT2C	58508	broad.mit.edu	37	7	151860040	151860040	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:151860040C>A	ENST00000355193.2	-	43	10840	c.10622G>T	c.(10621-10623)gGg>gTg	p.G3541V	KMT2C_ENST00000262189.6_Missense_Mutation_p.G3541V					lysine (K)-specific methyltransferase 2C																		GAAGCTGGTCCCAGAAAGATT	0.498000													19	37					1.96292e-10	2.75835e-10	0.592651	1	0
GPR4	2828	broad.mit.edu	37	19	46094935	46094935	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:46094935G>C	ENST00000323040.4	-	2	1134	c.190C>G	c.(190-192)Ctg>Gtg	p.L64V	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	64						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ATGTACAGCAGGTCGGCGATG	0.632000													20	97					0	0	0.608945	0	0
CDH18	1016	broad.mit.edu	37	5	19838916	19838916	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:19838916G>A	ENST00000507958.1	-	5	1170	c.180C>T	c.(178-180)ttC>ttT	p.F60F	CDH18_ENST00000511273.1_Silent_p.F60F|CDH18_ENST00000506372.1_Silent_p.F60F|CDH18_ENST00000382275.1_Silent_p.F60F|CDH18_ENST00000502796.1_Silent_p.F60F|CDH18_ENST00000274170.4_Silent_p.F60F			Q13634	CAD18_HUMAN	cadherin 18, type 2	60	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTAAAACAAAGAACTGATTCC	0.403000													11	22					0	0	0.479597	0	0
COL6A6	131873	broad.mit.edu	37	3	130293197	130293197	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:130293197G>C	ENST00000358511.6	+	7	3406	c.3375G>C	c.(3373-3375)ctG>ctC	p.L1125L	COL6A6_ENST00000453409.2_Silent_p.L1125L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1125	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGAAGCCCTGAGACACAGAG	0.567000													18	29					0	0	0.639603	0	0
OCM2	4951	broad.mit.edu	37	7	97617759	97617759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:97617759G>A	ENST00000257627.4	-	2	254	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	55	EF-hand 1.						calcium ion binding			lung(4)	4						TACCCGCTCTGGTCGTTGTCT	0.542000													27	49					0	0	0.740014	0	0
XKR9	389668	broad.mit.edu	37	8	71593456	71593456	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:71593456G>T	ENST00000408926.3	+	3	697	c.163G>T	c.(163-165)Gct>Tct	p.A55S	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.A55S	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	55						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AACACTTGTGGCTCAGTGTTT	0.373000													37	236					2.24893e-16	3.64332e-16	0.847076	1	0
IGLL5	100423062	broad.mit.edu	37	22	23237856	23237856	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:23237856C>A	ENST00000532223.1	+	3	904	c.630C>A	c.(628-630)gcC>gcA	p.A210A	IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000526893.1_Silent_p.A209A			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	209	C region (By similarity to lambda light- chain).					extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						AGACAGTGGCCCCTACAGAAT	0.607000													13	51					0.0167234	0.0173219	0.435327	1	0
IL7R	3575	broad.mit.edu	37	5	35876369	35876369	+	Silent	SNP	C	C	A	rs139678300		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:35876369C>A	ENST00000303115.3	+	8	1290	c.1161C>A	c.(1159-1161)tcC>tcA	p.S387S	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	387					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTTCCAGGTCCCTAGACTGCA	0.537000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						5	34					3.59834e-05	4.13712e-05	0.217242	1	0
PTGDR	5729	broad.mit.edu	37	14	52734663	52734663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:52734663C>A	ENST00000306051.2	+	1	233	c.131C>A	c.(130-132)tCg>tAg	p.S44*	PTGDR_ENST00000553372.1_Nonsense_Mutation_p.S44*	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	44						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CTGGCGCGCTCGGGGCTGGGG	0.687000													6	12					2.7689e-08	3.64903e-08	0.248553	1	0
ACOT11	26027	broad.mit.edu	37	1	55066961	55066961	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:55066961G>A	ENST00000371316.3	+	9	986	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.V302M	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	302	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GGGCGTGTGCGTGGAGGCCTA	0.612000													3	45					0	0	0.115264	0	0
HOXC11	3227	broad.mit.edu	37	12	54369071	54369071	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:54369071G>T	ENST00000243082.4	+	2	907	c.793G>T	c.(793-795)Gca>Tca	p.A265S	HOXC11_ENST00000546378.1_Silent_p.L263L	NM_014212.3	NP_055027.1	O43248	HXC11_HUMAN	homeobox C11	0					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						AGAAGCGGCTGCAGCTGTCCC	0.502000			T	NUP98	AML								6	58					1.26484e-09	1.74003e-09	0.278610	1	0
BBS7	55212	broad.mit.edu	37	4	122784422	122784422	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:122784422C>A	ENST00000264499.4	-	3	298	c.115G>T	c.(115-117)Gat>Tat	p.D39Y	BBS7_ENST00000506636.1_Missense_Mutation_p.D39Y	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	39					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCATCATGATCTCCAATAACC	0.318000									Bardet-Biedl syndrome				32	153					1.32136e-16	2.14988e-16	0.840704	1	0
PSMD2	5708	broad.mit.edu	37	3	184025763	184025763	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:184025763G>A	ENST00000310118.4	+	19	2942	c.2384G>A	c.(2383-2385)gGa>gAa	p.G795E	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.G665E|PSMD2_ENST00000435761.1_Missense_Mutation_p.G636E	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	795					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GCCGTGGCTGGACTGCTCACT	0.527000													12	43					0	0	0.457914	0	0
NPHP3	27031	broad.mit.edu	37	3	132403529	132403529	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:132403529C>T	ENST00000337331.5	-	24	3525	c.3439G>A	c.(3439-3441)Gaa>Aaa	p.E1147K	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1147					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGTTTCTTTTCATTGCATAGA	0.428000													13	20					0	0	0.435327	0	0
ZNF665	79788	broad.mit.edu	37	19	53668496	53668496	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:53668496T>A	ENST00000600412.1	-	2	1167	c.1052A>T	c.(1051-1053)cAc>cTc	p.H351L	ZNF665_ENST00000396424.3_Missense_Mutation_p.H416L			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ATTTGCTAAGTGTGAATACTG	0.403000													38	23					0	0	0.834066	0	0
UBN1	29855	broad.mit.edu	37	16	4924688	4924688	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:4924688C>T	ENST00000396658.4	+	14	2980	c.2277C>T	c.(2275-2277)ggC>ggT	p.G759G	UBN1_ENST00000262376.6_Silent_p.G759G|UBN1_ENST00000590769.1_Silent_p.G759G|UBN1_ENST00000545171.1_Silent_p.G759G	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	759					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGAGTTCTGGCTACAAAGAGC	0.562000													16	37					0	0	0.520397	0	0
ZNF98	148198	broad.mit.edu	37	19	22575687	22575687	+	Missense_Mutation	SNP	C	C	A	rs140301665	by1000genomes	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:22575687C>A	ENST00000357774.5	-	4	471	c.350G>T	c.(349-351)cGt>cTt	p.R117L		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TAAATTTTCACGTCCACATTT	0.343000													3	18					0.115264	0.117529	0.115264	1	0
SI	6476	broad.mit.edu	37	3	164785164	164785164	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:164785164C>A	ENST00000264382.3	-	6	661	c.599G>T	c.(598-600)aGc>aTc	p.S200I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	200	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AACTTGGATGCTAAATGGGTT	0.303000										HNSCC(35;0.089)			14	51					3.45872e-05	3.99798e-05	0.500413	1	0
PPP1R12A	4659	broad.mit.edu	37	12	80214888	80214888	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:80214888T>C	ENST00000450142.2	-	7	1192	c.926A>G	c.(925-927)gAc>gGc	p.D309G	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.D309G|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.D309G|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.D309G|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.D222G	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	309						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CTGATTATTGTCCATATTTGC	0.318000													20	75					0	0	0.681144	0	0
SGIP1	84251	broad.mit.edu	37	1	67105493	67105493	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:67105493G>T	ENST00000371037.4	+	5	282	c.205G>T	c.(205-207)Gcg>Tcg	p.A69S	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Missense_Mutation_p.A44S|SGIP1_ENST00000371039.1_Missense_Mutation_p.A45S|SGIP1_ENST00000237247.6_Missense_Mutation_p.A73S|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	69					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TGGATTTTATGCGGAAATTGA	0.294000													6	39					2.17888e-05	2.52636e-05	0.335167	1	0
EFR3A	23167	broad.mit.edu	37	8	133015496	133015496	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:133015496A>T	ENST00000254624.5	+	22	2549	c.2324A>T	c.(2323-2325)cAt>cTt	p.H775L	EFR3A_ENST00000334503.4_Missense_Mutation_p.H775L|EFR3A_ENST00000521940.1_3'UTR|EFR3A_ENST00000519656.1_Missense_Mutation_p.H739L	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	775						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AATTTGCTTCATGATAGACTT	0.318000													13	66					0	0	0.457914	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104202	142104202	+	RNA	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:142104202G>T	ENST00000390379.1	-	0	262																											CTCTGTGTTTGATCTGGATAC	0.532000													58	132					7.10676e-39	1.33197e-38	0.870114	1	0
USP42	84132	broad.mit.edu	37	7	6189538	6189538	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:6189538A>T	ENST00000306177.5	+	13	1869	c.1711A>T	c.(1711-1713)Acg>Tcg	p.T571S		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	571					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GAACGCATCTACGATGTCAGT	0.478000													6	31					0	0	0.217242	0	0
GSR	2936	broad.mit.edu	37	8	30567405	30567405	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:30567405T>A	ENST00000221130.5	-	3	438	c.348A>T	c.(346-348)acA>acT	p.T116T	GSR_ENST00000546342.1_Silent_p.T116T|GSR_ENST00000541648.1_Silent_p.T116T|GSR_ENST00000414019.1_Silent_p.T73T|GSR_ENST00000537535.1_Silent_p.T116T	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	116					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	AGTGGACAGCTGTGTTCCACA	0.383000													6	17					0	0	0.217242	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111648353	111648353	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:111648353C>A	ENST00000502935.1	-	6	535	c.415_splice	c.e6-1	p.G139_splice	XPNPEP1_ENST00000369680.4_Splice_Site_p.G96_splice|XPNPEP1_ENST00000322238.8_Splice_Site_p.G139_splice|XPNPEP1_ENST00000369683.1_Splice_Site_p.G25_splice|XPNPEP1_ENST00000430337.1_5'UTR			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	96					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GTCCTTCAGACCTACAGGGGG	0.483000													3	11					0.115264	0.117529	0.115264	1	0
AIPL1	23746	broad.mit.edu	37	17	6329034	6329034	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:6329034C>A	ENST00000381129.3	-	6	981	c.901G>T	c.(901-903)Gtg>Ttg	p.V301L	AIPL1_ENST00000570466.1_Missense_Mutation_p.V279L|AIPL1_ENST00000576776.1_Missense_Mutation_p.V277L|AIPL1_ENST00000576307.1_Missense_Mutation_p.V241L|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000574506.1_Missense_Mutation_p.V289L|AIPL1_ENST00000250087.5_Missense_Mutation_p.V238L	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	301					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		TCCCTGCGCACCGCCTTCTGC	0.677000													22	25					2.41591e-17	3.96937e-17	0.681144	1	0
ZNF732	654254	broad.mit.edu	37	4	265100	265100	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:265100A>C	ENST00000419098.1	-	4	1556	c.1546T>G	c.(1546-1548)Tac>Gac	p.Y516D		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TTACTCAGGTATGTGGACCAT	0.378000													3	10					0	0	0.217242	0	0
CRB2	286204	broad.mit.edu	37	9	126125314	126125314	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:126125314C>A	ENST00000373631.3	+	2	266	c.265C>A	c.(265-267)Ccc>Acc	p.P89T	CRB2_ENST00000359999.3_Missense_Mutation_p.P89T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	89	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGGTCCAGATCCCACCGGCTT	0.682000													7	18					0.0381472	0.0391621	0.278610	1	0
MYCBP2	23077	broad.mit.edu	37	13	77817201	77817201	+	Translation_Start_Site	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:77817201T>A	ENST00000360084.5	-	0	2600				MYCBP2_ENST00000544440.2_Missense_Mutation_p.E836D|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E874D|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E836D			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TACCTCTTCCTTCCTCTAATC	0.413000													16	56					0	0	0.592651	0	0
SLAIN1	122060	broad.mit.edu	37	13	78335215	78335215	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:78335215C>G	ENST00000466548.1	+	7	1627	c.1601C>G	c.(1600-1602)cCt>cGt	p.P534R	SLAIN1_ENST00000358679.3_Missense_Mutation_p.P271R|SLAIN1_ENST00000351546.3_Missense_Mutation_p.P271R|SLAIN1_ENST00000314070.5_Missense_Mutation_p.P157R|SLAIN1_ENST00000418532.1_Missense_Mutation_p.P315R|SLAIN1_ENST00000488699.1_Missense_Mutation_p.P392R|SLAIN1_ENST00000267219.8_Missense_Mutation_p.P315R	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	534										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AGTAACCTGCCTCGAAGCAAA	0.468000													5	35					0	0	0.184627	0	0
BICD1	636	broad.mit.edu	37	12	32369271	32369271	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:32369271G>A	ENST00000548411.1	+	2	485	c.304G>A	c.(304-306)Gag>Aag	p.E102K	BICD1_ENST00000281474.5_Missense_Mutation_p.E102K	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	102					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCATCGAAGGAGGCTTACTA	0.542000													27	30					0	0	0.706142	0	0
CD300LB	124599	broad.mit.edu	37	17	72521974	72521974	+	Missense_Mutation	SNP	T	T	C	rs113622355		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:72521974T>C	ENST00000392621.1	-	2	398	c.394A>G	c.(394-396)Agg>Ggg	p.R132G	CD300LB_ENST00000314401.3_Missense_Mutation_p.R132G	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	95						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCATCTCGCCTGAGCCCCTCC	0.507000													48	143					0	0	0.870114	0	0
CALM3	808	broad.mit.edu	37	19	47112165	47112165	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:47112165G>A	ENST00000291295.9	+	5	547	c.348G>A	c.(346-348)aaG>aaA	p.K116K	CALM3_ENST00000596362.1_Silent_p.K116K|CALM3_ENST00000599839.1_Silent_p.K80K|CALM3_ENST00000598871.1_Silent_p.K80K|CALM3_ENST00000391918.2_Silent_p.K80K|CALM3_ENST00000597743.1_Intron|CALM3_ENST00000594523.1_Silent_p.K80K|CALM3_ENST00000477244.1_3'UTR	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	116	EF-hand 3.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	TGGGGGAGAAGCTGACCGATG	0.552000													19	31					0	0	0.624587	0	0
TRPS1	7227	broad.mit.edu	37	8	116631712	116631712	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:116631712C>A	ENST00000395715.3	-	3	1190	c.613G>T	c.(613-615)Gat>Tat	p.D205Y	TRPS1_ENST00000519674.1_Missense_Mutation_p.D192Y|TRPS1_ENST00000519076.1_Missense_Mutation_p.D146Y|TRPS1_ENST00000220888.5_Missense_Mutation_p.D192Y|TRPS1_ENST00000520276.1_Missense_Mutation_p.D196Y	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	192					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACACCCCCATCTGAAGGCACT	0.478000									Langer-Giedion syndrome				69	64					2.48295e-43	4.67689e-43	0.870114	1	0
OR5M3	219482	broad.mit.edu	37	11	56237279	56237279	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:56237279C>A	ENST00000312240.2	-	1	735	c.695G>T	c.(694-696)aGg>aTg	p.R232M		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GGCCTTCTGCCTTCCTTCTGC	0.443000													7	31					2.0095e-06	2.45678e-06	0.248553	1	0
THAP4	51078	broad.mit.edu	37	2	242573058	242573058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:242573058C>A	ENST00000407315.1	-	2	945	c.514G>T	c.(514-516)Gaa>Taa	p.E172*		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	172							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGAGTCCGTTCCAGAGCTTGC	0.642000													9	27					0.000274275	0.000303965	0.307466	1	0
PCDH18	54510	broad.mit.edu	37	4	138451859	138451859	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:138451859G>A	ENST00000344876.4	-	1	1770	c.1384C>T	c.(1384-1386)Cca>Tca	p.P462S	PCDH18_ENST00000412923.2_Missense_Mutation_p.P462S|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.P242S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	462	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAGTGGGGTGGATTGTCATTG	0.418000													23	110					0	0	0.667858	0	0
CDKL4	344387	broad.mit.edu	37	2	39411789	39411789	+	Splice_Site	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:39411789C>G	ENST00000378803.1	-	7	735		c.e7-1		CDKL4_ENST00000395035.3_Splice_Site	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4							cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				CAAGAGTTTCCTGAAAAACAA	0.323000													5	18					0	0	0.217242	0	0
YLPM1	56252	broad.mit.edu	37	14	75283738	75283738	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:75283738C>T	ENST00000325680.7	+	14	5914	c.5790C>T	c.(5788-5790)atC>atT	p.I1930I	YLPM1_ENST00000552421.1_Silent_p.I1224I|YLPM1_ENST00000238571.3_Silent_p.I1695I	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCTTCATCATCCTGGATGCCA	0.403000													7	10					0	0	0.278610	0	0
OR51I2	390064	broad.mit.edu	37	11	5474794	5474794	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:5474794T>A	ENST00000341449.2	+	1	157	c.76T>A	c.(76-78)Tgg>Agg	p.W26R	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTCACTCCTGGCTGTCAGG	0.547000													12	40					0	0	0.479597	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603352	13603352	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:13603352C>A	ENST00000040738.5	-	10	5307	c.5172G>T	c.(5170-5172)gaG>gaT	p.E1724D		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1724							DNA binding										TCACAGTGCCCTCTGTTTCTT	0.498000													11	52					0.411799	0.415108	0.411799	1	0
ANO6	196527	broad.mit.edu	37	12	45751133	45751133	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:45751133G>C	ENST00000320560.8	+	8	1126	c.924G>C	c.(922-924)atG>atC	p.M308I	ANO6_ENST00000435642.1_Missense_Mutation_p.M308I|ANO6_ENST00000423947.3_Missense_Mutation_p.M329I|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.M308I|ANO6_ENST00000441606.2_Missense_Mutation_p.M290I	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	308					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACACTCAGATGCTTCTCCTGG	0.393000													18	58					0	0	0.624587	0	0
COL19A1	1310	broad.mit.edu	37	6	70851915	70851915	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:70851915G>T	ENST00000322773.4	+	22	1621	c.1518_splice	c.e22-1	p.G507_splice	COL19A1_ENST00000393344.1_Splice_Site_p.G129_splice	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	507	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACGTGTTTAGGGTGAACCTGG	0.388000													10	17					5.16669e-11	7.38449e-11	0.387290	1	0
FOCAD	54914	broad.mit.edu	37	9	20740332	20740332	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:20740332A>C	ENST00000380249.1	+	7	749	c.385A>C	c.(385-387)Acc>Ccc	p.T129P	FOCAD_ENST00000338382.6_Missense_Mutation_p.T129P	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	129						integral to membrane	binding										GAGTATATATACCATTAGGTA	0.289000													17	21					0	0	0.557998	0	0
MYH11	4629	broad.mit.edu	37	16	15851831	15851831	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:15851831G>T	ENST00000338282.6	-	13	1534	c.1428C>A	c.(1426-1428)atC>atA	p.I476I	MYH11_ENST00000576790.1_Silent_p.I476I|MYH11_ENST00000396324.3_Silent_p.I483I|MYH11_ENST00000452625.2_Silent_p.I483I|MYH11_ENST00000300036.5_Silent_p.I476I	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	476	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGGTGTAGTTGATGCACAGCT	0.567000			T	CBFB	AML								26	72					1.56442e-22	2.73455e-22	0.760397	1	0
COL19A1	1310	broad.mit.edu	37	6	70589489	70589489	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:70589489G>T	ENST00000322773.4	+	2	132	c.30G>T	c.(28-30)tgG>tgT	p.W10C	COL19A1_ENST00000476656.1_3'UTR	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	10					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGAAACTTTGGCTTTGGATGT	0.423000													4	48					0.014758	0.0152967	0.184627	1	0
PEG3	5178	broad.mit.edu	37	19	57327159	57327159	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:57327159C>A	ENST00000326441.9	-	10	3014	c.2651G>T	c.(2650-2652)gGg>gTg	p.G884V	PEG3_ENST00000593695.1_Missense_Mutation_p.G758V|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G884V|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G760V|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	884					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTACTGCCCCCTTCACAAGG	0.443000													37	27					9.62906e-15	1.50173e-14	0.819951	1	0
CNNM1	26507	broad.mit.edu	37	10	101089340	101089340	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:101089340G>A	ENST00000356713.4	+	1	485	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	CNNM1_ENST00000446890.1_Missense_Mutation_p.E66K|CNNM1_ENST00000370528.3_Missense_Mutation_p.E66K	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	66					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GCGCGCCGCCGAAGGCACCAG	0.746000													5	18					0	0	0.248553	0	0
CCDC132	55610	broad.mit.edu	37	7	92887685	92887685	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:92887685G>C	ENST00000544910.1	+	9	687	c.467G>C	c.(466-468)cGg>cCg	p.R156P	CCDC132_ENST00000305866.5_Missense_Mutation_p.R186P|CCDC132_ENST00000251739.5_Missense_Mutation_p.R186P|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	186										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACAGATGTACGGTTAAGTGAA	0.299000													22	66					0	0	0.693898	0	0
MASP1	5648	broad.mit.edu	37	3	186954342	186954342	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:186954342G>T	ENST00000296280.6	-	11	1542	c.1317C>A	c.(1315-1317)ccC>ccA	p.P439P	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Silent_p.P326P|MASP1_ENST00000337774.5_Intron	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	439					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GGGAGCGGGAGGGCTGACCAC	0.562000													34	103					2.35958e-20	3.99907e-20	0.847076	1	0
TRAV35	28647	broad.mit.edu	37	14	22690135	22690135	+	RNA	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:22690135C>A	ENST00000390462.1	+	0	94																											TATGTTTATCCAGGAAGGAGA	0.428000													6	26					8.12818e-05	9.2046e-05	0.248553	1	0
TCHH	7062	broad.mit.edu	37	1	152081942	152081942	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:152081942G>T	ENST00000368804.1	-	2	3750	c.3751C>A	c.(3751-3753)Cgg>Agg	p.R1251R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1251					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAACTGCCGGAACTGTTCA	0.507000													38	18					1.04594e-18	1.74323e-18	0.819951	1	0
USH1C	10083	broad.mit.edu	37	11	17553016	17553016	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:17553016C>G	ENST00000005226.7	-	3	177	c.178G>C	c.(178-180)Gat>Cat	p.D60H	USH1C_ENST00000527020.1_Missense_Mutation_p.D60H|USH1C_ENST00000318024.4_Missense_Mutation_p.D60H|USH1C_ENST00000527720.1_Missense_Mutation_p.D29H	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	60					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CGAATGGCATCAAACAGAGGC	0.617000													14	17					0	0	0.500413	0	0
FAT4	79633	broad.mit.edu	37	4	126238361	126238361	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:126238361G>T	ENST00000394329.3	+	1	808	c.795G>T	c.(793-795)gtG>gtT	p.V265V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	265	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACGCGGTTGTGGGTTCCAGCG	0.627000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	15					0.00829132	0.0086716	0.361761	1	0
PANK3	79646	broad.mit.edu	37	5	167991059	167991059	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:167991059C>A	ENST00000239231.6	-	4	963	c.647G>T	c.(646-648)gGt>gTt	p.G216V	PANK3_ENST00000520504.1_Intron	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	216					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CAGAAAGGTACCCCCTCCAAG	0.378000													33	31					6.50621e-10	9.04141e-10	0.769981	1	0
GPR124	25960	broad.mit.edu	37	8	37687411	37687411	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:37687411C>T	ENST00000315215.7	+	6	960	c.597C>T	c.(595-597)cgC>cgT	p.R199R	GPR124_ENST00000412232.2_Silent_p.R199R			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	199	LRRCT.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCACCTGCGCTGGCTGCTGC	0.667000													19	55					0	0	0.654019	0	0
RTEL1	51750	broad.mit.edu	37	20	62321784	62321784	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:62321784G>C	ENST00000318100.4	+	26	3230	c.2403G>C	c.(2401-2403)caG>caC	p.Q801H	RTEL1_ENST00000370018.3_Missense_Mutation_p.Q801H|RTEL1_ENST00000360203.5_Missense_Mutation_p.Q801H|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.Q801H|RTEL1_ENST00000370003.1_Missense_Mutation_p.Q46H|RTEL1_ENST00000508582.2_Missense_Mutation_p.Q825H			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	801					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCCTGAAGCAGAGGTCCTCAG	0.697000													13	30					0	0	0.500413	0	0
FAF1	11124	broad.mit.edu	37	1	51171477	51171477	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:51171477C>A	ENST00000396153.2	-	7	1089	c.638G>T	c.(637-639)gGa>gTa	p.G213V	FAF1_ENST00000371778.4_Missense_Mutation_p.G213V	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	213					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AGTACTGCTTCCTGAGAAGTT	0.433000													5	25					0.00116845	0.00126512	0.217242	1	0
NEMF	9147	broad.mit.edu	37	14	50301084	50301084	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:50301084T>C	ENST00000298310.5	-	7	1107	c.658A>G	c.(658-660)Aaa>Gaa	p.K220E	NEMF_ENST00000545773.1_Missense_Mutation_p.K178E|AL627171.1_ENST00000358799.1_Intron|NEMF_ENST00000546046.1_Missense_Mutation_p.K220E			O60524	NEMF_HUMAN	nuclear export mediator factor	220						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GACATACCTTTAGTTTCAAGT	0.338000													15	33					0	0	0.479597	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													4	56					0	0	0.335167	0	0
CACNG5	27091	broad.mit.edu	37	17	64880889	64880889	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:64880889G>A	ENST00000169565.3	+	4	681	c.681G>A	c.(679-681)ccG>ccA	p.P227P	CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	0				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	p.P227P(1)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TTTGGACCCCGGACCACCCAC	0.597000													35	60					0	0	0.796494	0	0
HAO2	51179	broad.mit.edu	37	1	119927405	119927405	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:119927405A>G	ENST00000361035.4	+	5	612	c.329A>G	c.(328-330)cAa>cGa	p.Q110R	HAO2_ENST00000325945.3_Missense_Mutation_p.Q97R	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	97	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		ACAGCTGCCCAAGCGGCTGGT	0.547000													7	20					0	0	0.335167	0	0
MTMR8	55613	broad.mit.edu	37	X	63444721	63444721	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:63444721C>T	ENST00000453546.1	-	10	2024	c.1935G>A	c.(1933-1935)ctG>ctA	p.L645L	ASB12_ENST00000396130.2_Silent_p.L261L|ASB12_ENST00000362002.2_Silent_p.L270L			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GGGCCTGTAGCAGCAATGCAA	0.502000													13	12					0	0	0.575678	0	0
OR10J5	127385	broad.mit.edu	37	1	159505133	159505133	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:159505133G>T	ENST00000334857.2	-	1	709	c.665C>A	c.(664-666)tCt>tAt	p.S222Y		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AAGGATGGAAGAGATGACAAG	0.443000													29	23					1.1423e-28	2.06383e-28	0.740014	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768675	31768675	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:31768675C>T	ENST00000240587.4	-	2	2351	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	675					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GCACCCATCCCGCGGGGGGCT	0.652000													25	34					0	0	0.706142	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138713461	138713461	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:138713461C>T	ENST00000275766.1	-	3	758	c.747G>A	c.(745-747)atG>atA	p.M249I		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	249										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TATTTTCAAGCATCTTGTGCA	0.398000													17	86					0	0	0.608945	0	0
PARP14	54625	broad.mit.edu	37	3	122446803	122446803	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:122446803G>A	ENST00000474629.2	+	16	5352	c.5086G>A	c.(5086-5088)Ggc>Agc	p.G1696S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1696	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAATCGAAATGGCTTTAACCG	0.502000													8	20					0	0	0.335167	0	0
TMEM18	129787	broad.mit.edu	37	2	675580	675580	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:675580C>A	ENST00000281017.3	-	2	201	c.108G>T	c.(106-108)gcG>gcT	p.A36A	TMEM18_ENST00000405941.3_Silent_p.A39A|TMEM18_ENST00000355654.2_Silent_p.A23A	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	36					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GCACGCAGAGCGCGTGGAAGG	0.577000													25	34					8.58068e-18	1.41911e-17	0.717897	1	0
ACTL8	81569	broad.mit.edu	37	1	18149614	18149614	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:18149614G>T	ENST00000375406.1	+	2	327	c.111G>T	c.(109-111)ccG>ccT	p.P37P		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	37						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		ACTACCTACCGTGCAAGGAGA	0.587000													17	45					1.56452e-12	2.34289e-12	0.557998	1	0
PLXDC1	57125	broad.mit.edu	37	17	37234203	37234203	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:37234203G>C	ENST00000315392.4	-	11	1360	c.1149C>G	c.(1147-1149)acC>acG	p.T383T	PLXDC1_ENST00000444911.2_Silent_p.T343T|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	383					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGGAGGAGGAGGTAGTGGTGA	0.597000													21	94					0	0	0.667858	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32150432	32150432	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:32150432C>G	ENST00000375250.5	-	4	1080	c.839G>C	c.(838-840)cGt>cCt	p.R280P	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R280P|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R280P|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R280P|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.R280P	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	280	WW 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GTAATAGCAACGCCCTGAGCT	0.478000													6	22					0	0	0.217242	0	0
BTNL2	56244	broad.mit.edu	37	6	32362549	32362549	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:32362549C>A	ENST00000454136.3	-	6	1336	c.1332G>T	c.(1330-1332)gaG>gaT	p.E444D	BTNL2_ENST00000374995.3_Missense_Mutation_p.E350D|BTNL2_ENST00000544175.1_Missense_Mutation_p.E167D|BTNL2_ENST00000414363.1_Missense_Mutation_p.E234D|BTNL2_ENST00000374993.1_Missense_Mutation_p.E444D|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000540315.1_Missense_Mutation_p.E234D			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	444						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CGATTTTCTCCTCGCCCAAAA	0.458000													7	38					1.76689e-08	2.33876e-08	0.335167	1	0
MAGI2	9863	broad.mit.edu	37	7	77762304	77762304	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:77762304C>A	ENST00000354212.4	-	18	3358	c.3105G>T	c.(3103-3105)caG>caT	p.Q1035H	MAGI2_ENST00000522391.1_Missense_Mutation_p.Q1035H|MAGI2_ENST00000419488.1_Missense_Mutation_p.Q1021H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1035	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGGACTCTGCTGTGCCAGGG	0.627000													74	160					2.34191e-24	4.14655e-24	0.870114	1	0
NELFCD	51497	broad.mit.edu	37	20	57566480	57566480	+	Silent	SNP	C	C	T	rs143108259	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:57566480C>T	ENST00000602795.1	+	9	1170	c.1122C>T	c.(1120-1122)agC>agT	p.S374S	NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000344018.3_Silent_p.S365S					negative elongation factor complex member C/D																		ACGCAGCAAGCGTGGTTGAGA	0.458000													12	61					0	0	0.387290	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42410730	42410730	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:42410730G>T	ENST00000599846.1	+	28	2906	c.2781G>T	c.(2779-2781)caG>caT	p.Q927H	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.Q886H|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.Q838H|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.Q871H|ARHGEF1_ENST00000378152.4_Intron			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	871					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGGAAATCCAGGAGAACCTGC	0.692000													6	18					0.0215528	0.0222019	0.217242	1	0
KCNA2	3737	broad.mit.edu	37	1	111146816	111146816	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:111146816C>A	ENST00000485317.1	-	3	1262	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C	KCNA2_ENST00000316361.4_Missense_Mutation_p.G197C|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000369770.3_Missense_Mutation_p.G197C|KCNA2_ENST00000440270.1_Missense_Mutation_p.G197C			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	197						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		ACCCCACTACCATGCATGTCT	0.468000													14	56					0.000308642	0.000340797	0.479597	1	0
DACH2	117154	broad.mit.edu	37	X	86067905	86067905	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:86067905G>A	ENST00000373131.1	+	7	1411	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	DACH2_ENST00000510272.1_Silent_p.K210K|DACH2_ENST00000508860.1_Silent_p.K262K|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000373125.4_Silent_p.K429K	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCTTGGACAAGATACAGCTGA	0.443000													18	6					0	0	0.608945	0	0
PHF20	51230	broad.mit.edu	37	20	34519296	34519296	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:34519296C>T	ENST00000374012.3	+	15	2359	c.2230C>T	c.(2230-2232)Cag>Tag	p.Q744*	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	744					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GGCCACCCACCAGCTTCTTGG	0.527000													14	52					0	0	0.520397	0	0
MROH9	80133	broad.mit.edu	37	1	170964581	170964581	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:170964581G>T	ENST00000367759.4	+	13	1400	c.1246G>T	c.(1246-1248)Gtg>Ttg	p.V416L	MROH9_ENST00000367758.3_Missense_Mutation_p.V416L	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		CAGGAAAGCGGTGGCCCAGTA	0.463000													47	31					2.14674e-31	3.92092e-31	0.870114	1	0
COMP	1311	broad.mit.edu	37	19	18896308	18896308	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:18896308C>A	ENST00000542601.2	-	14	2007	c.1618_splice	c.e14+1	p.G540_splice	COMP_ENST00000222271.2_Splice_Site_p.G573_splice|COMP_ENST00000425807.1_Splice_Site_p.G520_splice			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	573	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGCTTCTCACCCACAGCCAGG	0.667000													45	53					1.72845e-40	3.24758e-40	0.870114	1	0
ARHGEF28	64283	broad.mit.edu	37	5	73153602	73153602	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:73153602A>T	ENST00000545377.1	+	15	2088	c.1912A>T	c.(1912-1914)Aag>Tag	p.K638*	ARHGEF28_ENST00000437974.1_Nonsense_Mutation_p.K638*|ARHGEF28_ENST00000513042.2_Nonsense_Mutation_p.K638*|ARHGEF28_ENST00000287898.5_Nonsense_Mutation_p.K638*|ARHGEF28_ENST00000296799.4_Nonsense_Mutation_p.K325*|ARHGEF28_ENST00000296794.6_Nonsense_Mutation_p.K638*|ARHGEF28_ENST00000426542.2_Nonsense_Mutation_p.K638*	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		GAATAAATCAAAGGTAATTAA	0.313000													6	11					0	0	0.248553	0	0
MPP2	4355	broad.mit.edu	37	17	41958884	41958884	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:41958884C>T	ENST00000269095.4	-	7	1059	c.755G>A	c.(754-756)cGc>cAc	p.R252H	MPP2_ENST00000377184.3_Missense_Mutation_p.R269H|MPP2_ENST00000536246.1_Missense_Mutation_p.R241H|MPP2_ENST00000523501.1_Missense_Mutation_p.R241H|MPP2_ENST00000518766.1_Missense_Mutation_p.R297H|MPP2_ENST00000520305.1_Missense_Mutation_p.R113H|MPP2_ENST00000461854.1_Missense_Mutation_p.R276H	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	276	SH3.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GGCGTTGAAGCGCAGGCCTGC	0.587000													50	61					0	0	0.870114	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69337320	69337320	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:69337320C>A	ENST00000305363.4	+	5	533	c.469C>A	c.(469-471)Cct>Act	p.P157T		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	157	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TAAAGTAGATCCTCACTCAGT	0.313000													32	64					1.58521e-26	2.85375e-26	0.812448	1	0
FAT3	120114	broad.mit.edu	37	11	92533858	92533858	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:92533858G>T	ENST00000298047.6	+	9	7696	c.7679G>T	c.(7678-7680)cGg>cTg	p.R2560L	FAT3_ENST00000409404.2_Missense_Mutation_p.R2560L|FAT3_ENST00000525166.1_Missense_Mutation_p.R2410L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2560	Cadherin 23.				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)				AGGCTAGACCGGGAAAACCCT	0.473000										TCGA Ovarian(4;0.039)			4	22					5.9392e-07	7.375e-07	0.217242	1	0
PXDNL	137902	broad.mit.edu	37	8	52366197	52366197	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:52366197C>A	ENST00000356297.4	-	10	1231	c.1131G>T	c.(1129-1131)gtG>gtT	p.V377V	PXDNL_ENST00000543296.1_Silent_p.V377V	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	377	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGACGTTGCCACGTGCCTGG	0.522000													14	49					5.35267e-07	6.6742e-07	0.557998	1	0
SGOL2	151246	broad.mit.edu	37	2	201438346	201438346	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:201438346C>G	ENST00000357799.4	+	7	3375	c.3277C>G	c.(3277-3279)Cat>Gat	p.H1093D		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1093					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TCCAGAGAGCCATGAAGTAAT	0.368000													13	66					0	0	0.457914	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158053871	158053871	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:158053871C>T	ENST00000359775.5	+	5	1598	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	ZDHHC14_ENST00000414563.2_Nonsense_Mutation_p.Q237*|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	237						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CACAGGTTCACAGCAAACAGG	0.388000													79	226					0	0	0.870114	0	0
SPAG11B	10407	broad.mit.edu	37	8	7308656	7308656	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:7308656T>A	ENST00000297498.2	-	3	446	c.280A>T	c.(280-282)Aga>Tga	p.R94*	SPAG11B_ENST00000528168.1_Nonsense_Mutation_p.R41*|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000359758.5_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	94					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CTGGCCCATCTAGGCCCTAAA	0.443000													8	60					0	0	0.361761	0	0
CFTR	1080	broad.mit.edu	37	7	117170968	117170968	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:117170968G>T	ENST00000003084.6	+	4	421	c.289G>T	c.(289-291)Gta>Tta	p.V97L	CFTR_ENST00000454343.1_Missense_Mutation_p.V97L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	97	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CACCAAAGCAGTACAGCCTCT	0.388000									Cystic Fibrosis				10	22					0.000673444	0.000734977	0.361761	1	0
CLDN20	49861	broad.mit.edu	37	6	155597019	155597019	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:155597019T>A	ENST00000367165.3	+	2	546	c.166T>A	c.(166-168)Tgg>Agg	p.W56R	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	56					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		GGACTGTACGTGGTACAGCAC	0.567000													27	51					0	0	0.779181	0	0
INSM1	3642	broad.mit.edu	37	20	20349229	20349229	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:20349229G>A	ENST00000310227.1	+	1	465	c.318G>A	c.(316-318)gtG>gtA	p.V106V		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	106	Ala/Gly/Pro-rich.				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CGCGGCCCGTGAGCCGCGAGC	0.746000													6	3					0	0	0.248553	0	0
SPOCK1	6695	broad.mit.edu	37	5	136314451	136314451	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:136314451C>A	ENST00000394945.1	-	11	1381	c.1212G>T	c.(1210-1212)ctG>ctT	p.L404L	SPOCK1_ENST00000282223.7_Silent_p.L404L	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	404					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTTTGGTCCCAGCTCCCGTT	0.522000													23	43					2.89027e-11	4.15062e-11	0.624587	1	0
ALK	238	broad.mit.edu	37	2	29443644	29443644	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:29443644G>T	ENST00000389048.3	-	23	4479	c.3573C>A	c.(3571-3573)ccC>ccA	p.P1191P	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1191	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGATGAACCGGGGCAGGGATT	0.567000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				6	34					0.00448238	0.00473402	0.307466	1	0
MOG	4340	broad.mit.edu	37	6	29627401	29627401	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:29627401C>A	ENST00000376894.4	+	2	512	c.394C>A	c.(394-396)Cat>Aat	p.H132N	MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376917.3_Missense_Mutation_p.H132N|MOG_ENST00000431798.2_Missense_Mutation_p.H132N|MOG_ENST00000376902.3_Missense_Mutation_p.H132N|MOG_ENST00000416766.2_Missense_Mutation_p.H132N|MOG_ENST00000376891.4_Missense_Mutation_p.H132N|MOG_ENST00000483013.1_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.H132N|MOG_ENST00000376898.3_Missense_Mutation_p.H132N|MOG_ENST00000376888.2_Intron|MOG_ENST00000533330.2_Missense_Mutation_p.H132N|MOG_ENST00000494692.1_Missense_Mutation_p.H132N|MOG_ENST00000490427.1_Intron|MOG_ENST00000396701.2_Missense_Mutation_p.H132N			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	132	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CTTCCGAGATCATTCTTACCA	0.433000													7	28					2.0095e-06	2.45678e-06	0.248553	1	0
FBXO11	80204	broad.mit.edu	37	2	48050495	48050495	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:48050495T>A	ENST00000403359.3	-	12	1475	c.1403A>T	c.(1402-1404)tAc>tTc	p.Y468F	FBXO11_ENST00000402508.1_Missense_Mutation_p.Y384F|FBXO11_ENST00000316377.4_Missense_Mutation_p.Y384F|FBXO11_ENST00000434523.2_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	468					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTTTCAAAGTAACCCTGAAA	0.328000			"""Mis, F, D"""		DLBCL								5	4					0	0	0.184627	0	0
ZNF112	7665	broad.mit.edu	37	19	44833074	44833074	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:44833074T>A	ENST00000354340.4	-	4	1287	c.1236A>T	c.(1234-1236)atA>atT	p.I412I	ZNF112_ENST00000536500.1_Silent_p.I435I|ZNF112_ENST00000337401.4_Silent_p.I418I	NM_013380.3	NP_037512.3			zinc finger protein 112																		TTCCATACTCTATATCTGTGT	0.348000													20	65					0	0	0.624587	0	0
HLX	3142	broad.mit.edu	37	1	221057824	221057824	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:221057824C>T	ENST00000366903.6	+	4	2746	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	HLX_ENST00000549319.1_Silent_p.L201L	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	415	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CTGGCGCCCTCATTACCGCca	0.622000													5	11					0	0	0.217242	0	0
NSRP1	84081	broad.mit.edu	37	17	28506291	28506291	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:28506291G>C	ENST00000247026.5	+	5	547	c.484G>C	c.(484-486)Gaa>Caa	p.E162Q	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	162	Necessary for alternative splicing activity.				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						AGAAGAAAGAGAAAAGAGGGC	0.428000													12	15					0	0	0.435327	0	0
VWA3A	146177	broad.mit.edu	37	16	22128452	22128452	+	Silent	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:22128452A>C	ENST00000389398.5	+	11	1041	c.945A>C	c.(943-945)gcA>gcC	p.A315A	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	315						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGAACCTTGCAGAAGCTGTTA	0.547000													3	3					0	0	0.115264	0	0
LRRC16B	90668	broad.mit.edu	37	14	24535820	24535820	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:24535820C>G	ENST00000342740.5	+	36	3791	c.3637C>G	c.(3637-3639)Cca>Gca	p.P1213A	LRRC16B_ENST00000334420.7_Missense_Mutation_p.P266A	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1213										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		AAGCACCAAACCAAGCTTCAG	0.547000													10	48					0	0	0.457914	0	0
LCMT1	51451	broad.mit.edu	37	16	25143815	25143815	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:25143815G>A	ENST00000399069.3	+	3	453	c.298G>A	c.(298-300)Ggc>Agc	p.G100S	LCMT1_ENST00000380966.4_Missense_Mutation_p.G100S	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	100							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CCTTGGGGCAGGCATGGATAC	0.428000													7	24					0	0	0.278610	0	0
EXPH5	23086	broad.mit.edu	37	11	108382214	108382214	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:108382214T>A	ENST00000265843.4	-	6	4130	c.4020A>T	c.(4018-4020)ctA>ctT	p.L1340L	EXPH5_ENST00000525344.1_Silent_p.L1333L|EXPH5_ENST00000428840.1_Silent_p.L1264L|EXPH5_ENST00000443411.1_Silent_p.L1152L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1340					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATGTAGGAGCTAGGGGCCCCC	0.413000													12	17					0	0	0.500413	0	0
SLC6A9	6536	broad.mit.edu	37	1	44476516	44476516	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:44476516C>G	ENST00000372310.3	-	3	234	c.69G>C	c.(67-69)caG>caC	p.Q23H	SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000372306.3_Missense_Mutation_p.Q23H|SLC6A9_ENST00000357730.2_Missense_Mutation_p.Q42H|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000360584.2_Missense_Mutation_p.Q96H|SLC6A9_ENST00000372307.3_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	96						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GTTTGAGGTTCTGGTCCCTCT	0.592000													21	42					0	0	0.693898	0	0
NOTCH4	4855	broad.mit.edu	37	6	32178620	32178620	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:32178620C>A	ENST00000375023.3	-	18	2912	c.2774G>T	c.(2773-2775)aGc>aTc	p.S925I		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	925	EGF-like 23.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTGGCACAGGCTGCCTTGGAA	0.622000													19	28					2.4624e-09	3.35376e-09	0.575678	1	0
KIDINS220	57498	broad.mit.edu	37	2	8870855	8870855	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:8870855G>C	ENST00000256707.3	-	30	5492	c.5311C>G	c.(5311-5313)Ctt>Gtt	p.L1771V	KIDINS220_ENST00000473731.1_Missense_Mutation_p.L1752V|KIDINS220_ENST00000418530.1_Missense_Mutation_p.L1672V|KIDINS220_ENST00000427284.1_Missense_Mutation_p.L1752V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1771	Mediates interaction with SNTA1 (By similarity).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTTTCTCAAAGAATGCTTTCT	0.448000													10	28					0	0	0.361761	0	0
SMURF2	64750	broad.mit.edu	37	17	62553734	62553734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:62553734C>A	ENST00000262435.9	-	13	1610	c.1423G>T	c.(1423-1425)Gtt>Ttt	p.V475F		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	475	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ACCGGATTAACTGCAGAATCA	0.313000													12	95					2.68362e-12	3.9949e-12	0.411799	1	0
TTC40	54777	broad.mit.edu	37	10	134664626	134664626	+	Missense_Mutation	SNP	C	C	A	rs143825819	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:134664626C>A	ENST00000368586.5	-	40	5858	c.5758G>T	c.(5758-5760)Ggc>Tgc	p.G1920C	TTC40_ENST00000263170.5_Missense_Mutation_p.G81C	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	81										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ATTACCAGGCCGACGGAAGTG	0.632000													24	59					1.2476e-16	2.03207e-16	0.706142	1	0
COL4A2	1284	broad.mit.edu	37	13	111111202	111111202	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:111111202G>T	ENST00000360467.5	+	22	1823	c.1517G>T	c.(1516-1518)gGc>gTc	p.G506V	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	506	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.G506V(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCTTCGCAGGCATCAACGGG	0.612000													12	22					0.411799	0.415108	0.411799	1	0
STON2	85439	broad.mit.edu	37	14	81864700	81864700	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:81864700G>T	ENST00000555447.1	-	3	439	c.27C>A	c.(25-27)gcC>gcA	p.A9A	STON2_ENST00000267540.2_Silent_p.A9A	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	9					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACTGGTGGGTGGCAATCACAT	0.522000													11	26					5.16669e-11	7.38449e-11	0.387290	1	0
DNAI2	64446	broad.mit.edu	37	17	72277988	72277988	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:72277988G>T	ENST00000579490.1	+	1	338	c.203G>T	c.(202-204)cGc>cTc	p.R68L	DNAI2_ENST00000446837.2_Missense_Mutation_p.R11L|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_Missense_Mutation_p.R11L|DNAI2_ENST00000311014.6_Missense_Mutation_p.R11L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	11					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTCAAGAAGCGCAGCGAGTTC	0.637000									Kartagener syndrome				15	92					1.56452e-12	2.34289e-12	0.557998	1	0
MIR1324	100302212	broad.mit.edu	37	3	75679964	75679964	+	RNA	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:75679964C>A	ENST00000408868.1	+	0	51					NR_031714.1																						AACCCCCTTCCCTCTGGGTAC	0.517000													4	59					1.024e-07	1.31945e-07	0.184627	1	0
TCTE1	202500	broad.mit.edu	37	6	44249877	44249877	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:44249877G>T	ENST00000371505.4	-	4	1388	c.1266C>A	c.(1264-1266)agC>agA	p.S422R	TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	422										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACAGGTTGATGCTGGTGAGTG	0.582000													18	35					0.00887093	0.00927136	0.575678	1	0
CT47B1	643311	broad.mit.edu	37	X	120009174	120009174	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:120009174C>A	ENST00000371311.3	-	1	605	c.351G>T	c.(349-351)gcG>gcT	p.A117A		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	117										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CAATGCCCGCCGCCGGGTACC	0.642000													7	4					0.0581538	0.0595789	0.335167	1	0
ELOVL2	54898	broad.mit.edu	37	6	10984073	10984073	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:10984073C>T	ENST00000354666.3	-	8	915	c.832G>A	c.(832-834)Ggt>Agt	p.G278S		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	278					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TTGGAAAAACCATTCTTCACT	0.363000													8	38					0	0	0.335167	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20490531	20490531	+	RNA	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:20490531T>A	ENST00000555186.1	+	0	511					NR_038836.1																						AAGTTGTTGGTAGTGGATCCA	0.418000													6	211					0	0	0.248553	0	0
OR4M1	441670	broad.mit.edu	37	14	20249337	20249337	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:20249337C>A	ENST00000315957.4	+	1	937	c.856C>A	c.(856-858)Ccc>Acc	p.P286T		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTACTTAATCCCATTATTTA	0.368000													7	83					2.0095e-06	2.45678e-06	0.248553	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													3	69					0	0	0.115264	0	0
CACNA1G	8913	broad.mit.edu	37	17	48655862	48655862	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:48655862C>A	ENST00000352832.5	+	9	2610	c.2238C>A	c.(2236-2238)ggC>ggA	p.G746G	CACNA1G_ENST00000510115.1_Silent_p.G746G|CACNA1G_ENST00000503485.1_Silent_p.G746G|CACNA1G_ENST00000510366.1_Silent_p.G746G|CACNA1G_ENST00000513964.1_Silent_p.G746G|CACNA1G_ENST00000442258.2_Silent_p.G746G|CACNA1G_ENST00000512389.1_Silent_p.G746G|CACNA1G_ENST00000514717.1_Silent_p.G746G|CACNA1G_ENST00000429973.2_Silent_p.G746G|CACNA1G_ENST00000513689.2_Silent_p.G746G|CACNA1G_ENST00000515765.1_Silent_p.G746G|CACNA1G_ENST00000514079.1_Silent_p.G746G|CACNA1G_ENST00000360761.4_Silent_p.G746G|CACNA1G_ENST00000514181.1_Silent_p.G746G|CACNA1G_ENST00000359106.5_Silent_p.G746G|CACNA1G_ENST00000505165.1_Silent_p.G746G|CACNA1G_ENST00000507510.2_Silent_p.G746G|CACNA1G_ENST00000358244.5_Silent_p.G746G|CACNA1G_ENST00000502264.1_Silent_p.G746G|CACNA1G_ENST00000515411.1_Silent_p.G746G|CACNA1G_ENST00000515165.1_Silent_p.G746G|CACNA1G_ENST00000507609.1_Silent_p.G746G|CACNA1G_ENST00000507336.1_Silent_p.G746G|CACNA1G_ENST00000354983.4_Silent_p.G746G|CACNA1G_ENST00000507896.1_Silent_p.G746G|CACNA1G_ENST00000416767.4_Silent_p.G746G	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	746					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGTACTTTGGCCGGGGAATCA	0.582000													34	50					4.92203e-23	8.63362e-23	0.819951	1	0
ITGAM	3684	broad.mit.edu	37	16	31309101	31309101	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:31309101G>T	ENST00000544665.3	+	14	1607	c.1536G>T	c.(1534-1536)ggG>ggT	p.G512G	ITGAM_ENST00000287497.8_Silent_p.G511G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	511					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTCTCTACGGGGAGCAGGGCC	0.652000													20	46					1.55795e-14	2.42222e-14	0.608945	1	0
CEACAM18	729767	broad.mit.edu	37	19	51986392	51986392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:51986392C>A	ENST00000396477.4	+	4	816	c.795C>A	c.(793-795)taC>taA	p.Y265*	CEACAM18_ENST00000451626.1_Nonsense_Mutation_p.Y326*	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	326						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATCTCAAGTACCACTGGATCC	0.512000													85	52					1.01459e-35	1.88747e-35	0.870114	1	0
GPR15	2838	broad.mit.edu	37	3	98251507	98251507	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:98251507C>A	ENST00000284311.3	+	1	765	c.630C>A	c.(628-630)agC>agA	p.S210R		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	210						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CTTTGTTGAGCATTGTGACCT	0.408000													19	62					2.70639e-06	3.27949e-06	0.624587	1	0
HAGH	3029	broad.mit.edu	37	16	1872979	1872979	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:1872979C>A	ENST00000397356.3	-	2	542	c.136G>T	c.(136-138)Gag>Tag	p.E46*	HAGH_ENST00000566709.1_5'UTR|HAGH_ENST00000455446.2_Nonsense_Mutation_p.E46*|HAGH_ENST00000397353.2_5'UTR	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	46					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	ATGGTGCCCTCGTCCACGGTC	0.587000													37	93					1.08169e-08	1.43939e-08	0.834066	1	0
MYH1	4619	broad.mit.edu	37	17	10409238	10409238	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:10409238C>A	ENST00000226207.5	-	19	2159	c.2065G>T	c.(2065-2067)Gag>Tag	p.E689*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	689	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGCTCATGCTCCATGGCACCT	0.478000													4	30					0.014758	0.0152967	0.184627	1	0
CRISP1	167	broad.mit.edu	37	6	49815968	49815968	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:49815968C>A	ENST00000335847.4	-	4	341	c.240G>T	c.(238-240)aaG>aaT	p.K80N	CRISP1_ENST00000505118.1_Missense_Mutation_p.K80N|CRISP1_ENST00000536021.1_Missense_Mutation_p.K80N|CRISP1_ENST00000329411.5_Missense_Mutation_p.K80N|CRISP1_ENST00000507853.1_Missense_Mutation_p.K80N|CRISP1_ENST00000355791.2_Missense_Mutation_p.K80N	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	80					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TATCACAATACTTTGAAAAAA	0.348000													21	70					4.87955e-14	7.47834e-14	0.693898	1	0
AMICA1	120425	broad.mit.edu	37	11	118083145	118083145	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:118083145G>C	ENST00000292067.7	-	2	586	c.145C>G	c.(145-147)Ctg>Gtg	p.L49V	AMICA1_ENST00000533261.1_Missense_Mutation_p.L59V|AMICA1_ENST00000526620.1_Missense_Mutation_p.L20V|AMICA1_ENST00000356289.5_Missense_Mutation_p.L59V	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	59	Ig-like V-type 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTGGTGACAGAGTCCAGTCT	0.502000													22	61					0	0	0.706142	0	0
ATF7	11016	broad.mit.edu	37	12	53911046	53911046	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:53911046G>A	ENST00000420353.2	-	12	1476	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	ATF7_ENST00000548446.2_Missense_Mutation_p.R454C|RP11-793H13.3_ENST00000548347.1_RNA|RP11-793H13.10_ENST00000591834.1_Intron|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000456903.4_Missense_Mutation_p.R443C|ATF7_ENST00000415113.1_Missense_Mutation_p.R422C|ATF7_ENST00000328463.7_Missense_Mutation_p.R454C	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	454	Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						GCTGCAGAGCGAACACTGAGG	0.572000													10	49					0	0	0.361761	0	0
RNF122	79845	broad.mit.edu	37	8	33416289	33416289	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:33416289C>A	ENST00000256257.1	-	2	427	c.25_splice	c.e2-1	p.G9_splice		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	9						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		ACAGAAACACCCTGCAAAGGG	0.488000													7	23					5.18039e-06	6.20246e-06	0.278610	1	0
CYP11B1	1584	broad.mit.edu	37	8	143955804	143955804	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:143955804G>A	ENST00000292427.4	-	9	1529	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	CYP11B1_ENST00000377675.3_Silent_p.F570F|CYP11B1_ENST00000517471.1_Silent_p.F433F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	499					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TGATGGCTCTGAAGGTGAGGA	0.567000									Familial Hyperaldosteronism type I				33	49					0	0	0.859065	0	0
BEST1	7439	broad.mit.edu	37	11	61725787	61725787	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:61725787C>A	ENST00000526988.1	+	6	727	c.566C>A	c.(565-567)gCc>gAc	p.A189D	BEST1_ENST00000534553.1_Intron|BEST1_ENST00000378042.3_Intron|BEST1_ENST00000449131.2_Intron|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000378043.4_Intron|BEST1_ENST00000301774.9_Intron			O76090	BEST1_HUMAN	bestrophin 1	0					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTCTCCAGGGCCCTGCTGGGC	0.607000													4	18					0.00909568	0.00948649	0.150653	1	0
KRT17	3872	broad.mit.edu	37	17	39780331	39780331	+	Splice_Site	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:39780331T>A	ENST00000311208.8	-	1	498	c.432_splice	c.e1+1	p.K144_splice	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	144	Coil 1B.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGGCCCTACCTTGTTCTGCAG	0.632000													39	148					0	0	0.834066	0	0
MMP16	4325	broad.mit.edu	37	8	89128843	89128843	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:89128843G>T	ENST00000286614.6	-	6	1257	c.976C>A	c.(976-978)Cct>Act	p.P326T	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	326					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GGAGGCCGAGGAGGTTTTGGC	0.532000													86	84					8.84886e-50	1.68576e-49	0.870114	1	0
DDO	8528	broad.mit.edu	37	6	110734560	110734560	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:110734560C>A	ENST00000368924.3	-	2	205	c.190G>T	c.(190-192)Gac>Tac	p.D64Y	DDO_ENST00000368923.3_Missense_Mutation_p.D64Y|DDO_ENST00000368925.1_Missense_Mutation_p.D36Y	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	36					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GTAAACTTGTCTGAAATGATG	0.517000													32	125					2.32173e-10	3.25952e-10	0.804634	1	0
OR2T3	343173	broad.mit.edu	37	1	248637461	248637461	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:248637461delC	ENST00000359594.2	+	1	835	c.810delC	c.(808-810)tafs	p.Y270fs		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGAGTTCCTACCACACAGCTG	0.542													102	275	---	---	---	---					
NT5C1B	93034	broad.mit.edu	37	2	18768815	18768816	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:18768815_18768816insG	ENST00000304081.4	-	2	173_174	c.73_74insC	c.(73-75)aaafs	p.K25fs	NT5C1B-RDH14_ENST00000532967.1_Frame_Shift_Ins_p.K25fs|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000359846.2_Frame_Shift_Ins_p.K25fs|NT5C1B_ENST00000600945.1_Frame_Shift_Ins_p.K25fs	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CTTTCTTTTTTCTGCTTCTAGA	0.391													48	97	---	---	---	---					
PTPRN	5798	broad.mit.edu	37	2	220167204	220167204	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:220167204delG	ENST00000295718.2	-	6	889	c.649delC	c.(649-651)gtfs	p.R217fs	PTPRN_ENST00000423636.2_Frame_Shift_Del_p.R127fs|PTPRN_ENST00000409251.3_Frame_Shift_Del_p.R217fs|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	217					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GAGCCATCACGGGAGCCAAAC	0.617													30	32	---	---	---	---					
LINC00886	730091	broad.mit.edu	37	3	156528429	156528430	+	RNA	INS	-	-	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:156528429_156528430insC	ENST00000472943.1	-	0	148					NR_038387.1																						GGACCGAAGTACCCCTGTTGGC	0.515													12	33	---	---	---	---					
SLC7A14	57709	broad.mit.edu	37	3	170198544	170198544	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:170198544delG	ENST00000231706.4	-	7	1842	c.1527delC	c.(1525-1527)ccfs	p.P509fs	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	509						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGCCGTAATTGGGGTGGTTGA	0.453													49	175	---	---	---	---					
KCTD8	386617	broad.mit.edu	37	4	44176951	44176951	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:44176951delG	ENST00000360029.3	-	2	1561	c.1278delC	c.(1276-1278)tcfs	p.S426fs		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	426						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTTTCTTTTTGGACAGATTTG	0.403										HNSCC(17;0.042)			36	152	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153259062	153259062	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:153259062delA	ENST00000281708.4	-	5	1982	c.753delT	c.(751-753)ctfs	p.L251fs	FBXW7_ENST00000296555.5_Frame_Shift_Del_p.L133fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.L251fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.L251fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.L75fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.L171fs|RP11-461L13.2_ENST00000605147.1_RNA	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	251					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CATCTAAAGCAAGCAATTTCT	0.358			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								12	43	---	---	---	---					
LINC01183	728586	broad.mit.edu	37	5	127122021	127122022	+	RNA	INS	-	-	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:127122021_127122022insT	ENST00000514853.2	+	0	278																											TAAAATCTCTCTGTGACAGAAA	0.386													14	29	---	---	---	---					
ZFP57	346171	broad.mit.edu	37	6	29640370	29640370	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:29640370delG	ENST00000376883.1	-	6	1869	c.1458delC	c.(1456-1458)ccfs	p.P486fs	ZFP57_ENST00000376881.3_Frame_Shift_Del_p.P486fs|ZFP57_ENST00000488757.1_Frame_Shift_Del_p.P506fs			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	422					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TATGGATCCTGGGGGGAGATT	0.517													10	38	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38771088	38771089	+	Splice_Site	INS	-	-	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:38771088_38771089insT	ENST00000359357.3	+	20	2637		c.e20+1		DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAACAGTCAGGTAACTTTTCTC	0.386													15	59	---	---	---	---					
LPA	4018	broad.mit.edu	37	6	161020604	161020604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:161020604delC	ENST00000447678.1	-	21	3335	c.3215delG	c.(3214-3216)gafs	p.G1072fs	LPA_ENST00000316300.5_Frame_Shift_Del_p.G1072fs	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3580	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCAAGTTCTTCCTGTGACAGT	0.483													82	329	---	---	---	---					
CROT	54677	broad.mit.edu	37	7	87022321	87022321	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:87022321delG	ENST00000331536.3	+	17	1841	c.1656delG	c.(1654-1656)cafs	p.Q552fs	CROT_ENST00000442291.1_Frame_Shift_Del_p.Q552fs|CROT_ENST00000419147.2_Frame_Shift_Del_p.Q580fs	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	552					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.Q552H(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TACGAGTCCAGGGAGTGGTAG	0.418													45	121	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113697737	113697737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:113697737delC	ENST00000297405.5	-	15	2624	c.2380delG	c.(2380-2382)ctfs	p.A794fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.A794fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.A690fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.A754fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	794	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCACCTCAGCCCCAGTAAAG	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	91	---	---	---	---					
UCN3	114131	broad.mit.edu	37	10	5416097	5416098	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:5416097_5416098insA	ENST00000380433.3	+	2	642_643	c.414_415insA	c.(412-417)gcaggcfs	p.G139fs		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	139						extracellular region	hormone activity			endometrium(1)|large_intestine(1)	2						TCAACATCGCCAAGGCCAAGAA	0.634													16	43	---	---	---	---					
HMX2	3167	broad.mit.edu	37	10	124909434	124909434	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:124909434delG	ENST00000339992.3	+	2	874	c.617delG	c.(616-618)cgfs	p.R206fs		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	206					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AAGTGGAAGCGGCAGCTCTCG	0.662													5	9	---	---	---	---					
RBMXL2	27288	broad.mit.edu	37	11	7110371	7110372	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:7110371_7110372insG	ENST00000306904.5	+	1	207_208	c.20_21insG	c.(19-21)cggfs	p.R7fs		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	7						nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCGGATCGCCCGGGGAAGCTGT	0.634													8	25	---	---	---	---					
LOC440040	440040	broad.mit.edu	37	11	49598515	49598518	+	RNA	DEL	TTCA	TTCA	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:49598515_49598518delTTCA	ENST00000527477.1	+	0	1062																											CAGTTAAAATTTCAGGTTTGGGAA	0.368													5	7	---	---	---	---					
CWF19L2	143884	broad.mit.edu	37	11	107224297	107224297	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:107224297delC	ENST00000282251.5	-	13	2065	c.2038delG	c.(2038-2040)acfs	p.D680fs	CWF19L2_ENST00000433523.1_Frame_Shift_Del_p.D680fs	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	680							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TGAGAGCTGTCAAAACAATAC	0.363													12	21	---	---	---	---					
PHLDB1	23187	broad.mit.edu	37	11	118498054	118498054	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:118498054delC	ENST00000361417.2	+	7	926	c.515delC	c.(514-516)acfs	p.T172fs	PHLDB1_ENST00000356063.5_Frame_Shift_Del_p.T172fs	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	172										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGGAACCACACCCCACAGACT	0.522													20	40	---	---	---	---					
SLC6A15	55117	broad.mit.edu	37	12	85279297	85279298	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:85279297_85279298insA	ENST00000450363.3	-	4	948_949	c.490_491insT	c.(490-492)gagfs	p.E164fs	SLC6A15_ENST00000552192.1_Frame_Shift_Ins_p.E57fs|SLC6A15_ENST00000266682.5_Frame_Shift_Ins_p.E164fs|SLC6A15_ENST00000551388.1_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	164					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AAACAAACTCCAGCCAATGATG	0.366													11	44	---	---	---	---					
RP11-897M7.1	0	broad.mit.edu	37	12	131962167	131962168	+	RNA	INS	-	-	ATA	rs148457819	by1000genomes	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:131962167_131962168insATA	ENST00000535133.1	-	0	195																											tggtaatggtggtgatgatggt	0.426													3	4	---	---	---	---					
MMP17	4326	broad.mit.edu	37	12	132335720	132335720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:132335720delG	ENST00000360564.1	+	10	1815	c.1713delG	c.(1711-1713)ccfs	p.P571fs	MMP17_ENST00000535291.1_Frame_Shift_Del_p.P487fs|MMP17_ENST00000535004.1_Frame_Shift_Del_p.P111fs	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	571					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CCTCTCCCCCGGGGGCCCCAG	0.706													2	4	---	---	---	---					
FLT1	2321	broad.mit.edu	37	13	28908231	28908231	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:28908231delC	ENST00000282397.4	-	18	2775	c.2524delG	c.(2524-2526)ttfs	p.V842fs	FLT1_ENST00000540678.1_Frame_Shift_Del_p.V60fs	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	842	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GATGCTTGAACCACTTTTCCA	0.433													71	236	---	---	---	---					
TPTE2P2	644623	broad.mit.edu	37	13	52857402	52857402	+	RNA	DEL	A	A	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:52857402delA	ENST00000451298.1	-	0	303				RP11-64P12.8_ENST00000606031.1_RNA																							ACTTAACGTCAAAAAAAATGT	0.289													2	4	---	---	---	---					
SLITRK1	114798	broad.mit.edu	37	13	84455198	84455198	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:84455198delC	ENST00000377084.2	-	1	1330	c.445delG	c.(445-447)ccfs	p.A149fs		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	149						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCCTGGAAGGCCCCCGGGTCT	0.468													21	62	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20134546	20134546	+	RNA	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:20134546delC	ENST00000548261.1	+	0	391																											TCTCCTGTTGCACCACCATTT	0.512													9	63	---	---	---	---					
ADAM21	8747	broad.mit.edu	37	14	70925698	70925698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:70925698delC	ENST00000603540.1	+	2	1740	c.1482delC	c.(1480-1482)atfs	p.I494fs	ADAM21_ENST00000267499.3_Frame_Shift_Del_p.I494fs|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	494	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGGACGGGATCCCCTGTAGTG	0.448													25	85	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													4	9	---	---	---	---					
ARMC5	79798	broad.mit.edu	37	16	31476460	31476461	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:31476460_31476461insGT	ENST00000457010.2	+	4	2817_2818	c.2116_2117insGT	c.(2116-2118)cagfs	p.Q706fs	ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000563544.1_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Intron	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	0							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CAGCCCCGCGCCCAGGATCTGG	0.624													18	68	---	---	---	---					
PELP1	27043	broad.mit.edu	37	17	4575456	4575456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:4575456delC	ENST00000301396.4	-	16	3487	c.3262delG	c.(3262-3264)aafs	p.E1093fs	PELP1_ENST00000572293.1_Frame_Shift_Del_p.E999fs|PELP1_ENST00000269230.7_Frame_Shift_Del_p.E859fs|PELP1_ENST00000574876.1_Frame_Shift_Del_p.E949fs|PELP1_ENST00000436683.2_Frame_Shift_Del_p.E802fs			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	949	Glu-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						tcttcttcttcctctaactca	0.473													2	4	---	---	---	---					
GAS2L2	246176	broad.mit.edu	37	17	34072570	34072570	+	Frame_Shift_Del	DEL	C	C	-	rs112674267	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:34072570delC	ENST00000254466.6	-	6	1973	c.1946delG	c.(1945-1947)gtfs	p.G649fs	GAS2L2_ENST00000587565.1_Frame_Shift_Del_p.G633fs	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	649					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTCATAAGGACCCCCAGGCTC	0.627													39	83	---	---	---	---					
KCNJ2	3759	broad.mit.edu	37	17	68171721	68171734	+	Frame_Shift_Del	DEL	GCCAAGATGGCAAA	GCCAAGATGGCAAA	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:68171721_68171734delGCCAAGATGGCAAA	ENST00000243457.3	+	2	924_937	c.541_554delGCCAAGATGGCAAA	c.(541-555)gfs	p.AKMAK181fs	KCNJ2_ENST00000535240.1_Frame_Shift_Del_p.AKMAK181fs	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	181					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CGCAGTCATGGCCAAGATGGCAAAGCCAAAGAAG	0.500													9	82	---	---	---	---					
HPN-AS1	100128675	broad.mit.edu	37	19	35596483	35596500	+	RNA	DEL	CACCATCACCATCATCAT	CACCATCACCATCATCAT	-	rs143642353		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:35596483_35596500delCACCATCACCATCATCAT	ENST00000392227.2	-	0	76					NR_024562.1																						tcaccatcaccaccatcaccatcatcatcaccaccacc	0.477													3	4	---	---	---	---					
CA11	770	broad.mit.edu	37	19	49147712	49147712	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:49147712delG	ENST00000084798.4	-	3	936	c.257delC	c.(256-258)cafs	p.P86fs	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	86						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		GAGCCTTAATGGGGGCAGAAA	0.587													24	32	---	---	---	---					
KLK6	5653	broad.mit.edu	37	19	51465069	51465069	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:51465069delG	ENST00000376851.3	-	5	952	c.513delC	c.(511-513)gcfs	p.A171fs	CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Frame_Shift_Del_p.A171fs|KLK6_ENST00000456750.2_Frame_Shift_Del_p.A64fs|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Frame_Shift_Del_p.A171fs|KLK6_ENST00000391808.1_Frame_Shift_Del_p.A64fs	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	171	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GGCCAGGGTAGGCATGCTCAC	0.567													109	79	---	---	---	---					
ANKEF1	63926	broad.mit.edu	37	20	10030742	10030742	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:10030742delA	ENST00000378380.3	+	6	1854	c.1525delA	c.(1525-1527)aafs	p.K510fs	ANKEF1_ENST00000378392.1_Frame_Shift_Del_p.K510fs|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		GGCTTCTCTGAAAAAGGCCTT	0.393													13	27	---	---	---	---					
MPPED1	758	broad.mit.edu	37	22	43831041	43831042	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:43831041_43831042insA	ENST00000417669.1	+	3	756_757	c.312_313insA	c.(310-315)cctccafs	p.P105fs	MPPED1_ENST00000538182.1_Frame_Shift_Ins_p.P138fs|MPPED1_ENST00000443721.1_Frame_Shift_Ins_p.P105fs|MPPED1_ENST00000542779.1_Frame_Shift_Ins_p.P105fs|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000439548.1_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	105							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GGACGGACCCCATCCAGATGCC	0.634													34	134	---	---	---	---					
