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
FAM83B	222584	broad.mit.edu	37	6	54804590	54804590	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:54804590G>A	ENST00000306858.7	+	5	937	c.821G>A	c.(820-822)aGa>aAa	p.R274K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	274										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAAGAATTTAGAACTCTCTAT	0.423000													11	60					0	0	0.093190	0	0
RGS11	8786	broad.mit.edu	37	16	321023	321023	+	Silent	SNP	C	C	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:321023C>A	ENST00000397770.3	-	13	956	c.939G>T	c.(937-939)ggG>ggT	p.G313G	RGS11_ENST00000316163.5_Silent_p.G292G|RGS11_ENST00000359740.5_Silent_p.G302G|ARHGDIG_ENST00000464609.1_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	313	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				AGTGGGCCCGCCCCACGGGGT	0.682000													3	36					0.00024832	0.000262116	0.009096	1	0
C9orf156	51531	broad.mit.edu	37	9	100672670	100672670	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:100672670T>C	ENST00000375119.3	-	4	714	c.638A>G	c.(637-639)cAt>cGt	p.H213R	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	213					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)				CTTAGTGCTATGGTGGGGTTG	0.473000													17	42					0	0	0.033300	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596425	11596425	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:11596425G>T	ENST00000304391.6	+	5	638	c.520G>T	c.(520-522)Gca>Tca	p.A174S	PTCHD2_ENST00000389575.3_Silent_p.R1287R|PTCHD2_ENST00000294484.6_Silent_p.R1287R			Q9P2K9	PTHD2_HUMAN	patched domain containing 2	0					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-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;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGGCCGTGCGGCACGTGGGCG	0.677000													25	29					2.79863e-10	3.19044e-10	0.099896	1	0
XPR1	9213	broad.mit.edu	37	1	180794421	180794421	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:180794421C>T	ENST00000367590.4	+	9	1273	c.1075C>T	c.(1075-1077)Ctt>Ttt	p.L359F	XPR1_ENST00000367589.3_Missense_Mutation_p.L359F	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	359						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GGTTTTCTTCCTTATCAACCC	0.423000													40	117					0	0	0.074837	0	0
SRRM2	23524	broad.mit.edu	37	16	2812431	2812431	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:2812431G>T	ENST00000301740.8	+	11	2451	c.1902G>T	c.(1900-1902)agG>agT	p.R634S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	634	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TACGACGCAGGTCTCGTAGTA	0.622000													22	80					3.5997e-14	4.18741e-14	0.069288	1	0
FANCB	2187	broad.mit.edu	37	X	14883285	14883285	+	Silent	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:14883285A>G	ENST00000398334.1	-	3	615	c.348T>C	c.(346-348)aaT>aaC	p.N116N	FANCB_ENST00000324138.3_Silent_p.N116N	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	116					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TTTCAAATTTATTAGTACTGT	0.318000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	48					0	0	0.020292	0	0
WWC1	23286	broad.mit.edu	37	5	167812359	167812359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:167812359C>T	ENST00000265293.4	+	3	875	c.373C>T	c.(373-375)Cag>Tag	p.Q125*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.Q125*	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	125					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGAGCTTGCACAGCAGGAGTA	0.587000													16	31					0	0	0.033300	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98850195	98850195	+	RNA	SNP	C	C	T	rs829864	by1000genomes	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:98850195C>T	ENST00000554295.1	-	0	728					NR_033801.1																						TCTCATAATCCTCATGAGCTT	0.423000													3	33					0	0	0.014758	0	0
PURG	29942	broad.mit.edu	37	8	30890027	30890027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr8:30890027C>T	ENST00000475541.1	-	1	1204	c.272G>A	c.(271-273)tGg>tAg	p.W91*	PURG_ENST00000339382.2_Nonsense_Mutation_p.W91*	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	91						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TCTCCCTATCCAGACTTCGGC	0.547000													21	36					0	0	0.062417	0	0
FZD7	8324	broad.mit.edu	37	2	202899737	202899737	+	Silent	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:202899737C>T	ENST00000286201.1	+	1	428	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	123	FZ.				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						GTGTCGTTCTCTGTGCGAGCG	0.642000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	65					0	0	0.054565	0	0
ZNF433	163059	broad.mit.edu	37	19	12126659	12126659	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:12126659T>G	ENST00000419886.2	-	5	1209	c.918A>C	c.(916-918)aaA>aaC	p.K306N	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.K341N			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TCCCACAATGTTTACATTCAT	0.388000													6	58					0	0	0.021553	0	0
B4GALT6	9331	broad.mit.edu	37	18	29211087	29211087	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr18:29211087C>T	ENST00000306851.5	-	6	907	c.611G>A	c.(610-612)cGt>cAt	p.R204H	B4GALT6_ENST00000383131.3_Missense_Mutation_p.R165H|B4GALT6_ENST00000237019.7_Missense_Mutation_p.R165H	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	204					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			AAGCATCGCACGGTTAAAAGG	0.398000													19	37					0	0	0.062417	0	0
SLC26A11	284129	broad.mit.edu	37	17	78223009	78223009	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:78223009A>G	ENST00000361193.3	+	16	1859	c.1579A>G	c.(1579-1581)Act>Gct	p.T527A	SLC26A11_ENST00000411502.3_Missense_Mutation_p.T527A|SLC26A11_ENST00000572725.1_Missense_Mutation_p.T527A|SLC26A11_ENST00000546047.2_Missense_Mutation_p.T527A	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	527	STAS.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CATCGACTACACTGTGGTGCT	0.672000													5	25					0	0	0.014758	0	0
PCDH15	65217	broad.mit.edu	37	10	55955480	55955480	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:55955480G>T	ENST00000373965.2	-	11	1662	c.1268C>A	c.(1267-1269)cCt>cAt	p.P423H	PCDH15_ENST00000395430.1_Missense_Mutation_p.P423H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P423H|PCDH15_ENST00000373957.3_Missense_Mutation_p.P401H|PCDH15_ENST00000373955.1_Missense_Mutation_p.P423H|PCDH15_ENST00000361849.3_Missense_Mutation_p.P423H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P423H|PCDH15_ENST00000409834.1_Missense_Mutation_p.P27H|PCDH15_ENST00000395446.1_Missense_Mutation_p.P423H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P401H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P386H|PCDH15_ENST00000320301.6_Missense_Mutation_p.P423H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P423H|PCDH15_ENST00000414778.1_Missense_Mutation_p.P428H|PCDH15_ENST00000395440.1_Missense_Mutation_p.P423H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	423	Cadherin 4.				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)				TATTCTTAAAGGTGAAGTCAA	0.368000										HNSCC(58;0.16)			10	108					4.68919e-08	5.18998e-08	0.069234	1	0
MED12L	116931	broad.mit.edu	37	3	150908705	150908705	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:150908705A>T	ENST00000474524.1	+	13	1993	c.1955A>T	c.(1954-1956)gAt>gTt	p.D652V	MED12L_ENST00000309237.4_Missense_Mutation_p.D652V|MED12L_ENST00000422248.2_Missense_Mutation_p.D652V|MED12L_ENST00000273432.4_Missense_Mutation_p.D512V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	652					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGGACCATGATGTGAAAATG	0.483000													11	35					0	0	0.093190	0	0
APC	324	broad.mit.edu	37	5	112173816	112173816	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:112173816A>T	ENST00000457016.1	+	16	2905	c.2525A>T	c.(2524-2526)gAt>gTt	p.D842V	APC_ENST00000257430.4_Missense_Mutation_p.D842V|APC_ENST00000508376.2_Missense_Mutation_p.D842V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	842	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGAAGCTTAGATAGTTCTCGT	0.403000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			17	43					0	0	0.028581	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27829391	27829391	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:27829391G>T	ENST00000318304.8	+	18	1775	c.1492G>T	c.(1492-1494)Ggg>Tgg	p.G498W	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G345W|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G467W|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G481W	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	498					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGGCCATTTGGGACCCTTCC	0.552000													11	227					7.03913e-09	7.94515e-09	0.093190	1	0
FAM47C	442444	broad.mit.edu	37	X	37026592	37026592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:37026592C>T	ENST00000358047.3	+	1	161	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	37										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAAGCACAGGCGCCTGAGGTT	0.617000													17	25					0	0	0.055883	0	0
CXorf21	80231	broad.mit.edu	37	X	30577998	30577998	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:30577998A>T	ENST00000378962.3	-	3	797	c.475T>A	c.(475-477)Tct>Act	p.S159T		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	159										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GGAATCTCAGATGACTTCAGC	0.453000													22	54					0	0	0.062417	0	0
LGALS12	85329	broad.mit.edu	37	11	63276452	63276452	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr11:63276452G>A	ENST00000415491.2	+	2	858	c.244G>A	c.(244-246)Gag>Aag	p.E82K	LGALS12_ENST00000340246.5_Missense_Mutation_p.E144K|LGALS12_ENST00000394618.3_Missense_Mutation_p.E143K|LGALS12_ENST00000425950.2_Missense_Mutation_p.E82K|LGALS12_ENST00000255684.5_Missense_Mutation_p.E143K	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	143	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTTCGGGAATGAGGAAGTGAA	0.592000													10	27					0	0	0.058154	0	0
BRINP3	339479	broad.mit.edu	37	1	190067993	190067993	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:190067993T>C	ENST00000367462.3	-	8	1687	c.1456A>G	c.(1456-1458)Att>Gtt	p.I486V	FAM5C_ENST00000534846.1_Missense_Mutation_p.I384V|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		486						extracellular region		p.I486V(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TCAAAGCCAATATAGTGATCG	0.522000													22	158					0	0	0.083992	0	0
LUZP2	338645	broad.mit.edu	37	11	24750809	24750809	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr11:24750809G>A	ENST00000533227.1	+	0	186				LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000336930.6_Missense_Mutation_p.D53N	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2							extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAGAGAACTTGATGGAATTAA	0.403000													4	62					0	0	0.021553	0	0
CNOT1	23019	broad.mit.edu	37	16	58592411	58592411	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:58592411G>T	ENST00000317147.5	-	18	2630	c.2298C>A	c.(2296-2298)ttC>ttA	p.F766L	CNOT1_ENST00000441024.2_Missense_Mutation_p.F766L|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.F766L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	766					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAATACCACTGAATGCAGTGG	0.463000													10	35					6.40141e-05	6.88454e-05	0.080935	1	0
ARL13B	200894	broad.mit.edu	37	3	93769695	93769695	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:93769695G>A	ENST00000535334.1	+	8	1383	c.860G>A	c.(859-861)aGa>aAa	p.R287K	ARL13B_ENST00000539730.1_Missense_Mutation_p.R111K|ARL13B_ENST00000394222.3_Missense_Mutation_p.R390K|DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.R390K|ARL13B_ENST00000303097.7_Missense_Mutation_p.R283K	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	390							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AAAGTCACTAGACTTCCAAAA	0.368000													13	43					0	0	0.038395	0	0
FUOM	282969	broad.mit.edu	37	10	135168929	135168929	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:135168929A>T	ENST00000368551.1	-	6	405	c.275T>A	c.(274-276)cTc>cAc	p.L92H	FUOM_ENST00000447176.1_Missense_Mutation_p.L93H|FUOM_ENST00000465384.1_5'UTR|FUOM_ENST00000368552.3_Missense_Mutation_p.L137H|FUOM_ENST00000278025.4_3'UTR					fucose mutarotase																		GTTTCCGTAGAGGGCCGTCTC	0.662000													5	22					0	0	0.029380	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	20					0	0	0.105934	0	0
PLCL1	5334	broad.mit.edu	37	2	199011631	199011631	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:199011631G>A	ENST00000428675.1	+	6	3631	c.3233G>A	c.(3232-3234)cGc>cAc	p.R1078H	PLCL1_ENST00000437704.2_Missense_Mutation_p.R980H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1078					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAGAGCAAGCGCAGCCTGGAA	0.512000													12	31					0	0	0.093190	0	0
MTFMT	123263	broad.mit.edu	37	15	65313852	65313852	+	Splice_Site	SNP	C	C	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr15:65313852C>A	ENST00000220058.4	-	4	658	c.645_splice	c.e4+1	p.M215_splice	MTFMT_ENST00000561025.1_5'UTR	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	215						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	GGAATTATACCATGTTGGCAC	0.383000													20	50					1.01871e-10	1.17306e-10	0.049695	1	0
SEMA3C	10512	broad.mit.edu	37	7	80435066	80435066	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:80435066G>A	ENST00000265361.3	-	7	1108	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F	SEMA3C_ENST00000419255.2_Missense_Mutation_p.L183F|SEMA3C_ENST00000544525.1_Missense_Mutation_p.L201F|SEMA3C_ENST00000536800.1_Missense_Mutation_p.L35F	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	183	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCAGAGAAAAGCTCCTCATCT	0.323000													17	34					0	0	0.028581	0	0
AVPI1	60370	broad.mit.edu	37	10	99437758	99437758	+	Silent	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:99437758C>T	ENST00000370626.3	-	3	879	c.312G>A	c.(310-312)ctG>ctA	p.L104L		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	104					cell cycle					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		GTGGGTTGGCCAGTGCAGAGT	0.522000													26	62					0	0	0.030593	0	0
HEPH	9843	broad.mit.edu	37	X	65476116	65476116	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:65476116A>G	ENST00000519389.1	+	17	3181	c.3002A>G	c.(3001-3003)gAt>gGt	p.D1001G	HEPH_ENST00000336279.5_Missense_Mutation_p.D680G|HEPH_ENST00000374727.3_Missense_Mutation_p.D950G|HEPH_ENST00000419594.1_Missense_Mutation_p.D758G|HEPH_ENST00000343002.2_Missense_Mutation_p.D947G|HEPH_ENST00000441993.2_Missense_Mutation_p.D950G			Q9BQS7	HEPH_HUMAN	hephaestin	947	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGGTCCCAGGATCCAGGCAGT	0.413000													23	87					0	0	0.069288	0	0
ZNF365	22891	broad.mit.edu	37	10	64148197	64148197	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:64148197G>A	ENST00000395254.3	+	3	1066	c.786G>A	c.(784-786)gaG>gaA	p.E262E	ZNF365_ENST00000410046.3_Silent_p.E262E|ZNF365_ENST00000395255.3_Silent_p.E262E|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	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)					CGGCAGCTGAGAAGGAGGTTC	0.473000													7	57					0	0	0.029380	0	0
SLC9C2	284525	broad.mit.edu	37	1	173490489	173490489	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:173490489C>G	ENST00000367714.3	-	22	3112	c.2690G>C	c.(2689-2691)gGa>gCa	p.G897A	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	897					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CATTTCACCTCCTTTACAAAT	0.318000													7	51					0	0	0.058154	0	0
LONRF1	91694	broad.mit.edu	37	8	12586780	12586780	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr8:12586780G>C	ENST00000398246.3	-	9	1819	c.1750C>G	c.(1750-1752)Ctc>Gtc	p.L584V	LONRF1_ENST00000525024.1_Missense_Mutation_p.L10V|LONRF1_ENST00000533751.1_Missense_Mutation_p.L227V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	584	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		AATACATGGAGAGGGCAAGGC	0.388000													19	59					0	0	0.038395	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26205057	26205057	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:26205057T>G	ENST00000360441.4	+	1	200	c.185T>G	c.(184-186)tTt>tGt	p.F62C		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	62					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CTGAAGGTGTTTCTGGAAAAC	0.567000													13	88					0	0	0.020292	0	0
CHRNB2	1141	broad.mit.edu	37	1	154543837	154543837	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:154543837C>T	ENST00000368476.3	+	5	802	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	180					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GACCTACGACCGCACAGAGAT	0.577000													5	48					0	0	0.014758	0	0
SYNE2	23224	broad.mit.edu	37	14	64496627	64496627	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr14:64496627C>G	ENST00000358025.3	+	44	6959	c.6729C>G	c.(6727-6729)aaC>aaG	p.N2243K	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.N2243K|SYNE2_ENST00000344113.4_Missense_Mutation_p.N2243K	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2243					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			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)		CTGTGCAAAACTTGGACGGTC	0.338000													5	25					0	0	0.021553	0	0
ODF2	4957	broad.mit.edu	37	9	131221864	131221864	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:131221864G>A	ENST00000434106.2	+	3	414	c.51G>A	c.(49-51)aaG>aaA	p.K17K	ODF2_ENST00000372814.3_Silent_p.K61K|ODF2_ENST00000372796.4_Silent_p.K17K|ODF2_ENST00000303890.5_5'UTR|ODF2_ENST00000535026.1_5'UTR|ODF2_ENST00000448249.3_5'UTR|ODF2_ENST00000351030.3_5'UTR|ODF2_ENST00000393533.2_Silent_p.K17K|ODF2_ENST00000372791.3_Silent_p.K17K|ODF2_ENST00000546203.1_Silent_p.K17K	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	17					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CGTGTGGGAAGAACGGAGTAA	0.483000													9	13					0	0	0.105934	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281460	145281460	+	Silent	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:145281460A>G	ENST00000369340.3	+	5	834	c.390A>G	c.(388-390)aaA>aaG	p.K130K	NOTCH2NL_ENST00000362074.6_Silent_p.K130K|NOTCH2NL_ENST00000344859.3_Silent_p.K130K|RP11-458D21.5_ENST00000468030.1_Silent_p.K130K			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	130	EGF-like 4.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TCTCCTGCAAATGCCTCACAG	0.537000													37	404					0	0	0.045515	0	0
ZMYND8	23613	broad.mit.edu	37	20	45875011	45875011	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr20:45875011G>A	ENST00000311275.7	-	14	2218	c.1965C>T	c.(1963-1965)agC>agT	p.S655S	ZMYND8_ENST00000360911.3_Silent_p.S650S|ZMYND8_ENST00000540497.1_Silent_p.S603S|ZMYND8_ENST00000396281.4_Silent_p.S655S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Silent_p.S655S|ZMYND8_ENST00000446994.2_Silent_p.S592S|ZMYND8_ENST00000352431.2_Silent_p.S675S|ZMYND8_ENST00000536340.1_Silent_p.S682S|ZMYND8_ENST00000372023.3_Silent_p.S650S|ZMYND8_ENST00000461685.1_Silent_p.S675S|ZMYND8_ENST00000355972.4_Silent_p.S655S|ZMYND8_ENST00000458360.2_Silent_p.S650S|ZMYND8_ENST00000471951.2_Silent_p.S675S			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	655							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTGCCTTCTCGCTGGCTGGTG	0.502000													39	194					0	0	0.098360	0	0
SYT16	83851	broad.mit.edu	37	14	62567240	62567240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr14:62567240C>T	ENST00000430451.2	+	6	1950	c.1753C>T	c.(1753-1755)Cag>Tag	p.Q585*		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	585	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGCCCTCTTTCAGCTGTCTGA	0.502000													15	31					0	0	0.024245	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085740	42085740	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:42085740C>A	ENST00000407170.2	+	4	888	c.75C>A	c.(73-75)agC>agA	p.S25R	CEACAM21_ENST00000401445.2_Missense_Mutation_p.S153R|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S153R			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	153						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						AAGCCAGCAGCACCACAGTCA	0.537000													6	75					8.12818e-05	8.65993e-05	0.029380	1	0
LRRC15	131578	broad.mit.edu	37	3	194081302	194081302	+	Silent	SNP	G	G	A	rs143343570	byFrequency	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:194081302G>A	ENST00000347624.3	-	2	556	c.471C>T	c.(469-471)caC>caT	p.H157H	LRRC15_ENST00000428839.1_Silent_p.H163H|LRRC15_ENST00000439944.2_Silent_p.H163H	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	157						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGTGGTTGCCGTGCAACTGCA	0.572000													31	251					0	0	0.050027	0	0
LARGE	9215	broad.mit.edu	37	22	33780226	33780226	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr22:33780226G>A	ENST00000354992.2	-	9	1528	c.957C>T	c.(955-957)acC>acT	p.T319T	LARGE_ENST00000397394.2_Silent_p.T319T|LARGE_ENST00000452586.2_Silent_p.T118T|LARGE_ENST00000402320.1_Silent_p.T319T|LARGE_ENST00000437602.2_Silent_p.T319T|LARGE_ENST00000337431.2_Silent_p.T319T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	319					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)				CCCTCTCTGCGGTCAGCCTCC	0.512000													6	152					0	0	0.047766	0	0
VWA7	80737	broad.mit.edu	37	6	31743155	31743155	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:31743155G>T	ENST00000375686.3	-	4	802	c.565C>A	c.(565-567)Cct>Act	p.P189T	VWA7_ENST00000447450.1_Missense_Mutation_p.P189T|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.P189T	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	189						extracellular region											AGGAGGTGAGGGTGTGGCTGC	0.612000													18	31					5.35267e-07	5.86735e-07	0.043863	1	0
GTF3C1	2975	broad.mit.edu	37	16	27476027	27476027	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:27476027C>G	ENST00000356183.4	-	34	5501	c.5486G>C	c.(5485-5487)aGa>aCa	p.R1829T	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1829T	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1829						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGGTCTTCTCTCTGGATGTC	0.672000													17	69					0	0	0.055883	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596426	11596426	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:11596426C>T	ENST00000294484.6	+	21	4000	c.3862C>T	c.(3862-3864)Cac>Tac	p.H1288Y	PTCHD2_ENST00000389575.3_Missense_Mutation_p.H1288Y|PTCHD2_ENST00000304391.6_Missense_Mutation_p.A174V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1288					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-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;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCCGTGCGGCACGTGGGCGT	0.672000													26	30					0	0	0.099896	0	0
MUC16	94025	broad.mit.edu	37	19	9073955	9073955	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:9073955C>G	ENST00000397910.4	-	3	13694	c.13491G>C	c.(13489-13491)ttG>ttC	p.L4497F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4499	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						TGCTTGTGTTCAACATATCTG	0.453000													28	76					0	0	0.108266	0	0
ROCK1	6093	broad.mit.edu	37	18	18534911	18534911	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr18:18534911T>C	ENST00000399799.1	-	31	4626	c.3686A>G	c.(3685-3687)cAt>cGt	p.H1229R		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1229	Auto-inhibitory.|PH.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AATAAACTCATGGCCTTTGTG	0.413000													11	37					0	0	0.093190	0	0
EIF3H	8667	broad.mit.edu	37	8	117671059	117671059	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr8:117671059G>A	ENST00000521861.1	-	3	473	c.450C>T	c.(448-450)ctC>ctT	p.L150L	EIF3H_ENST00000276682.4_Silent_p.L164L	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	150					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					AACCATAAATGAGAACGACAG	0.413000													24	107					0	0	0.069288	0	0
ZNF99	7652	broad.mit.edu	37	19	22940586	22940586	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:22940586C>G	ENST00000397104.3	-	5	1851	c.1852G>C	c.(1852-1854)Gaa>Caa	p.E618Q	ZNF99_ENST00000596209.1_Missense_Mutation_p.E709Q					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCCACATTCTTCACATTTG	0.373000													16	38					0	0	0.028581	0	0
SLC29A2	3177	broad.mit.edu	37	11	66134014	66134014	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr11:66134014C>T	ENST00000357440.2	-	8	983	c.755G>A	c.(754-756)aGt>aAt	p.S252N	SLC29A2_ENST00000546034.1_Missense_Mutation_p.S252N|SLC29A2_ENST00000544554.1_Missense_Mutation_p.S252N|SLC29A2_ENST00000311161.7_Intron	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	252					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						TTTCTGGGGACTACTGGGAAT	0.577000													7	52					0	0	0.029380	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71503904	71503904	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:71503904T>A	ENST00000265382.3	+	7	631	c.326T>A	c.(325-327)aTc>aAc	p.I109N	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.I109N	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	109	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TAGTATTCCATCTGCAGTGAA	0.383000													41	68					0	0	0.098360	0	0
UROC1	131669	broad.mit.edu	37	3	126224562	126224562	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:126224562G>A	ENST00000290868.2	-	8	848	c.795C>T	c.(793-795)tgC>tgT	p.C265C	UROC1_ENST00000383579.3_Silent_p.C265C	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	265					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TCACACCGATGCACCCCACGA	0.642000													15	37					0	0	0.033300	0	0
LILRB4	11006	broad.mit.edu	37	19	55174502	55174502	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:55174502C>T	ENST00000391736.1	+	3	332	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LILRB4_ENST00000391733.3_Missense_Mutation_p.T6M|LILRB4_ENST00000430952.2_Missense_Mutation_p.T6M|LILRB4_ENST00000270452.2_Missense_Mutation_p.T6M|LILRB4_ENST00000391734.3_Missense_Mutation_p.T6M	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	6						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCCACCTTCACGGCTCTGCTC	0.602000											OREG0003670	type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	105					0	0	0.038147	0	0
ACSM2A	123876	broad.mit.edu	37	16	20480920	20480920	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:20480920G>T	ENST00000573854.1	+	4	589	c.475G>T	c.(475-477)Gct>Tct	p.A159S	ACSM2A_ENST00000575690.1_Missense_Mutation_p.A159S|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A159S|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A80S|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A159S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A159S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	159					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						GGCTATTGTTGCTGGGGATGA	0.458000													52	128					2.76378e-25	3.24816e-25	0.048971	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144879069	144879069	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:144879069G>A	ENST00000369359.4	-	30	4827	c.4789C>T	c.(4789-4791)Ctg>Ttg	p.L1597L	PDE4DIP_ENST00000530740.1_Silent_p.L1597L|PDE4DIP_ENST00000369354.3_Silent_p.L1461L|PDE4DIP_ENST00000369356.4_Silent_p.L1461L|PDE4DIP_ENST00000313382.9_Silent_p.L1417L|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1461	NBPF.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.L1461V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTCAGCCAGCTTCTCTTCT	0.517000			T	PDGFRB	MPD								15	221					0	0	0.033300	0	0
MED13	9969	broad.mit.edu	37	17	60032881	60032881	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:60032881T>A	ENST00000397786.2	-	26	5906	c.5830A>T	c.(5830-5832)Atg>Ttg	p.M1944L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1944					androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATGTCTGCATATTTAGAGTC	0.343000													23	134					0	0	0.099896	0	0
PCLO	27445	broad.mit.edu	37	7	82387992	82387992	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:82387992T>G	ENST00000333891.8	-	25	15665	c.15328A>C	c.(15328-15330)Acc>Ccc	p.T5110P		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5033					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCAATCAAGGTCTTTTTCATA	0.333000													32	107					0	0	0.037714	0	0
GART	2618	broad.mit.edu	37	21	34897183	34897183	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr21:34897183T>C	ENST00000381831.3	-	11	1454	c.1191A>G	c.(1189-1191)atA>atG	p.I397M	GART_ENST00000381815.4_Missense_Mutation_p.I397M|GART_ENST00000361093.5_Missense_Mutation_p.I397M|GART_ENST00000381839.3_Missense_Mutation_p.I397M	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	397					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CAAGGGCTGATATGAGATTTT	0.488000													34	70					0	0	0.069456	0	0
TET1	80312	broad.mit.edu	37	10	70333405	70333405	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:70333405C>T	ENST00000373644.4	+	2	1519	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	437					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCTGTTCCTCCAAATCCAATT	0.468000													27	102					0	0	0.099896	0	0
DNAH2	146754	broad.mit.edu	37	17	7734767	7734767	+	Silent	SNP	G	G	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:7734767G>C	ENST00000572933.1	+	81	13979	c.12519G>C	c.(12517-12519)ggG>ggC	p.G4173G	DNAH2_ENST00000389173.2_Silent_p.G4173G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4173					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACTATGAGGGGACTCAAAAAC	0.527000													12	37					0	0	0.093190	0	0
S1PR4	8698	broad.mit.edu	37	19	3179854	3179854	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:3179854T>A	ENST00000246115.3	+	1	1119	c.1064T>A	c.(1063-1065)cTg>cAg	p.L355Q		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	355					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GACAGCTCTCTGAGGCCAAGG	0.682000													30	89					0	0	0.059317	0	0
MIOS	54468	broad.mit.edu	37	7	7636027	7636027	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:7636027G>A	ENST00000340080.4	+	11	2757	c.2336G>A	c.(2335-2337)cGa>cAa	p.R779Q	MIOS_ENST00000405785.1_Missense_Mutation_p.R779Q	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	779										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTGGCTGTCGAAAACCACTT	0.428000													11	154					0	0	0.024245	0	0
C10orf90	118611	broad.mit.edu	37	10	128191398	128191398	+	Silent	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:128191398A>G	ENST00000392694.1	-	4	1369	c.1108T>C	c.(1108-1110)Tta>Cta	p.L370L	C10orf90_ENST00000544758.1_Intron|C10orf90_ENST00000284694.7_Intron|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000356858.3_Intron			Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	0										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CCTTCTTGTAATAAGTCTGTA	0.333000													27	92					0	0	0.037714	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88293287	88293287	+	Silent	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:88293287A>T	ENST00000357081.3	-	5	396	c.252T>A	c.(250-252)ctT>ctA	p.L84L	AGTPBP1_ENST00000376109.3_Silent_p.L136L|AGTPBP1_ENST00000376080.1_Silent_p.L26L|AGTPBP1_ENST00000491784.1_Intron|AGTPBP1_ENST00000376081.4_Silent_p.L84L|AGTPBP1_ENST00000337006.4_Silent_p.L26L|AGTPBP1_ENST00000432218.1_5'UTR|AGTPBP1_ENST00000376083.3_Silent_p.L84L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	84					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTAAGATATTAAGTGTAGTTT	0.308000													4	15					0	0	0.009096	0	0
RNF135	84282	broad.mit.edu	37	17	29326075	29326075	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:29326075T>C	ENST00000328381.5	+	5	2038	c.1165T>C	c.(1165-1167)Ttc>Ctc	p.F389L	RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000443677.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	389	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				AAAGCTTGCCTTCTATTCAGT	0.532000													25	71					0	0	0.037714	0	0
DHRS1	115817	broad.mit.edu	37	14	24760813	24760813	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr14:24760813A>G	ENST00000288111.7	-	7	949	c.673T>C	c.(673-675)Tct>Cct	p.S225P	DHRS1_ENST00000396813.1_Missense_Mutation_p.S225P|DHRS1_ENST00000559088.1_5'UTR	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	225						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		GTTTCCGCAGATGAGAAGGCT	0.488000													34	218					0	0	0.064281	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146077680	146077680	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:146077680C>T	ENST00000394413.3	-	3	766	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	PPP2R2B_ENST00000504198.1_Missense_Mutation_p.E72K|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.E66K|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.E69K|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.E132K|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.E66K|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.E124K|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.E66K|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.E55K|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.E55K			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	66					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATTGTATTCACCCCTACGA	0.373000													33	52					0	0	0.074837	0	0
DNAH3	55567	broad.mit.edu	37	16	21069448	21069448	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:21069448T>A	ENST00000261383.3	-	27	3882	c.3883A>T	c.(3883-3885)Acc>Tcc	p.T1295S	DNAH3_ENST00000415178.1_Missense_Mutation_p.T1295S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1295	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCTCCTGGGTCCAAAAGATG	0.478000													16	36					0	0	0.028581	0	0
KMT2D	8085	broad.mit.edu	37	12	49446699	49446699	+	Splice_Site	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:49446699T>C	ENST00000301067.7	-	8	1110	c.1112_splice	c.e8+1	p.R371_splice		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACCACTTACCTGCTACACACC	0.547000													30	91					0	0	0.054565	0	0
AQP6	363	broad.mit.edu	37	12	50367087	50367087	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:50367087C>T	ENST00000315520.5	+	1	468	c.131C>T	c.(130-132)tCa>tTa	p.S44L	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	44					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GGCGTGGGCTCAGTCATGCGC	0.607000													23	80					0	0	0.083992	0	0
PLD1	5337	broad.mit.edu	37	3	171394576	171394576	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:171394576C>T	ENST00000356327.5	-	17	2000	c.1930G>A	c.(1930-1932)Gcc>Acc	p.A644T	PLD1_ENST00000340989.4_Missense_Mutation_p.A682T|PLD1_ENST00000351298.4_Missense_Mutation_p.A682T|PLD1_ENST00000342215.6_Silent_p.L572L	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	682	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTGCAGAGGCAATGTCATGC	0.527000													13	78					0	0	0.105934	0	0
POMGNT2	84892	broad.mit.edu	37	3	43122688	43122688	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:43122688C>G	ENST00000344697.2	-	2	581	c.236G>C	c.(235-237)tGc>tCc	p.C79S	GTDC2_ENST00000441964.1_Missense_Mutation_p.C79S	NM_032806.4	NP_116195.2																					CTTGAAGCGGCAGATGCGGTC	0.617000													13	32					0	0	0.020292	0	0
DCDC1	341019	broad.mit.edu	37	11	31113007	31113007	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr11:31113007G>A	ENST00000597505.1	-	15	2169	c.2170C>T	c.(2170-2172)Cat>Tat	p.H724Y	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)					CTGATAGGATGACCAATAGCC	0.393000													3	11					0	0	0.004672	0	0
HAL	3034	broad.mit.edu	37	12	96377733	96377733	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:96377733T>C	ENST00000261208.3	-	15	1611	c.1243A>G	c.(1243-1245)Aag>Gag	p.K415E	HAL_ENST00000538703.1_Missense_Mutation_p.K415E|HAL_ENST00000541929.1_Missense_Mutation_p.K207E	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	415					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ATGATGTTCTTCACAAATGCT	0.338000													21	39					0	0	0.069288	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	72					0	0	0.009096	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													3	29					0	0	0.004672	0	0
MROH2B	133558	broad.mit.edu	37	5	41065470	41065470	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:41065470G>A	ENST00000399564.4	-	4	774	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.F108F(1)									CAAGCACAACGAATTCATCTG	0.418000													12	18					0	0	0.093190	0	0
ZNF630	57232	broad.mit.edu	37	X	47918974	47918974	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:47918974G>A	ENST00000276054.4	-	5	1419	c.485C>T	c.(484-486)aCt>aTt	p.T162I	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.T272I|ZNF630_ENST00000409324.3_Missense_Mutation_p.T286I			Q2M218	ZN630_HUMAN	zinc finger protein 630	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TTTCTCTCCAGTATGAATTCT	0.388000													32	100					0	0	0.037714	0	0
SENP1	29843	broad.mit.edu	37	12	48468185	48468185	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:48468185T>C	ENST00000004980.5	-	8	1340	c.862A>G	c.(862-864)Act>Gct	p.T288A	SENP1_ENST00000551330.1_Missense_Mutation_p.T288A|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Missense_Mutation_p.T288A|SENP1_ENST00000448372.1_Missense_Mutation_p.T288A|SENP1_ENST00000549595.1_Missense_Mutation_p.T288A			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	288					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGATGAAGAGTACCAGAATCT	0.408000													18	98					0	0	0.038395	0	0
RAD50	10111	broad.mit.edu	37	5	131911505	131911505	+	Silent	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:131911505C>T	ENST00000265335.6	+	3	637	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	84					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAGATTCGTCTGCAATTTCG	0.378000								Homologous recombination					12	46					0	0	0.105934	0	0
BBS10	79738	broad.mit.edu	37	12	76741323	76741323	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:76741323A>T	ENST00000393262.3	-	2	525	c.442T>A	c.(442-444)Tac>Aac	p.Y148N		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	148					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTACTTAGGTACTGGTCCATA	0.393000									Bardet-Biedl syndrome				11	65					0	0	0.069234	0	0
C2orf57	165100	broad.mit.edu	37	2	232458286	232458286	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:232458286A>C	ENST00000313965.2	+	1	712	c.624A>C	c.(622-624)gaA>gaC	p.E208D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	208										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CTGAAGCTGAAGCTTTACCAT	0.582000													10	117					0	0	0.058154	0	0
EPHA10	284656	broad.mit.edu	37	1	38227471	38227471	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:38227471G>A	ENST00000373048.4	-	3	455	c.456C>T	c.(454-456)atC>atT	p.I152I	EPHA10_ENST00000427468.2_Silent_p.I152I|EPHA10_ENST00000319637.6_Silent_p.I152I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	152						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGATCGTGTCGATTTTGCGGG	0.662000													13	28					0	0	0.093190	0	0
CEP350	9857	broad.mit.edu	37	1	179983098	179983098	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:179983098C>G	ENST00000367607.3	+	10	1928	c.1510C>G	c.(1510-1512)Cta>Gta	p.L504V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	504						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TATAAAGAAACTAGCTTCATC	0.368000													18	43					0	0	0.033300	0	0
MDN1	23195	broad.mit.edu	37	6	90497660	90497660	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:90497660G>A	ENST00000369393.3	-	8	1362	c.1247C>T	c.(1246-1248)cCt>cTt	p.P416L	MDN1_ENST00000428876.1_Missense_Mutation_p.P416L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	416					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCCAAGAGAGGGATCAGCAC	0.408000													25	36					0	0	0.099896	0	0
MAP9	79884	broad.mit.edu	37	4	156274418	156274418	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr4:156274418C>A	ENST00000311277.4	-	11	1718	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N	MAP9_ENST00000515654.1_Missense_Mutation_p.K461N|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000593387.1_RNA|AC097467.2_ENST00000601977.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	485					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CAGCTATTTTCTTTGCTTCCT	0.353000													10	53					1.76689e-08	1.97476e-08	0.058154	1	0
HOOK1	51361	broad.mit.edu	37	1	60314747	60314747	+	Silent	SNP	T	T	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:60314747T>G	ENST00000371208.3	+	12	1391	c.1134T>G	c.(1132-1134)gtT>gtG	p.V378V	HOOK1_ENST00000395561.2_Silent_p.V336V|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	378	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GACATTAGGTTCAAGATCTTC	0.338000													20	51					0	0	0.055883	0	0
PODXL	5420	broad.mit.edu	37	7	131194197	131194197	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:131194197C>T	ENST00000541194.1	-	4	1213	c.956G>A	c.(955-957)aGc>aAc	p.S319N	PODXL_ENST00000537928.1_Missense_Mutation_p.S285N|PODXL_ENST00000322985.9_Missense_Mutation_p.S285N|PODXL_ENST00000378555.3_Missense_Mutation_p.S317N	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	317	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGCTGTGGGGCTGGAGCTCAT	0.602000													45	85					0	0	0.048971	0	0
FAM83B	222584	broad.mit.edu	37	6	54804590	54804590	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr6:54804590G>A	ENST00000306858.7	+	5	937	c.821G>A	c.(820-822)aGa>aAa	p.R274K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	274										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAAGAATTTAGAACTCTCTAT	0.423000													11	60					0	0	0.093190	0	0
RGS11	8786	broad.mit.edu	37	16	321023	321023	+	Silent	SNP	C	C	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr16:321023C>A	ENST00000397770.3	-	13	956	c.939G>T	c.(937-939)ggG>ggT	p.G313G	RGS11_ENST00000359740.5_Silent_p.G302G|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Silent_p.G292G			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	313	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				AGTGGGCCCGCCCCACGGGGT	0.682000													3	36					0.00024832	0.000259711	0.009096	1	0
C9orf156	51531	broad.mit.edu	37	9	100672670	100672670	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr9:100672670T>C	ENST00000375119.3	-	4	714	c.638A>G	c.(637-639)cAt>cGt	p.H213R	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	213					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)				CTTAGTGCTATGGTGGGGTTG	0.473000													17	42					0	0	0.033300	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596425	11596425	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr1:11596425G>T	ENST00000304391.6	+	5	638	c.520G>T	c.(520-522)Gca>Tca	p.A174S	PTCHD2_ENST00000294484.6_Silent_p.R1287R|PTCHD2_ENST00000389575.3_Silent_p.R1287R			Q9P2K9	PTHD2_HUMAN	patched domain containing 2	0					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-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;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGGCCGTGCGGCACGTGGGCG	0.677000													25	29					2.79863e-10	3.19044e-10	0.099896	1	0
SRRM2	23524	broad.mit.edu	37	16	2812431	2812431	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr16:2812431G>T	ENST00000301740.8	+	11	2451	c.1902G>T	c.(1900-1902)agG>agT	p.R634S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	634	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TACGACGCAGGTCTCGTAGTA	0.622000													22	80					3.5997e-14	4.18741e-14	0.069288	1	0
FANCB	2187	broad.mit.edu	37	X	14883285	14883285	+	Silent	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chrX:14883285A>G	ENST00000398334.1	-	3	615	c.348T>C	c.(346-348)aaT>aaC	p.N116N	FANCB_ENST00000324138.3_Silent_p.N116N	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	116					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TTTCAAATTTATTAGTACTGT	0.318000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	48					0	0	0.119110	0	0
WWC1	23286	broad.mit.edu	37	5	167812359	167812359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr5:167812359C>T	ENST00000265293.4	+	3	875	c.373C>T	c.(373-375)Cag>Tag	p.Q125*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.Q125*	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	125					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGAGCTTGCACAGCAGGAGTA	0.587000													16	31					0	0	0.033300	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98850195	98850195	+	RNA	SNP	C	C	T	rs829864	by1000genomes	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr12:98850195C>T	ENST00000554295.1	-	0	728					NR_033801.1																						TCTCATAATCCTCATGAGCTT	0.423000													3	33					0	0	0.014758	0	0
PURG	29942	broad.mit.edu	37	8	30890027	30890027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr8:30890027C>T	ENST00000475541.1	-	1	1204	c.272G>A	c.(271-273)tGg>tAg	p.W91*	PURG_ENST00000339382.2_Nonsense_Mutation_p.W91*	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	91						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TCTCCCTATCCAGACTTCGGC	0.547000													21	36					0	0	0.062417	0	0
FZD7	8324	broad.mit.edu	37	2	202899737	202899737	+	Silent	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr2:202899737C>T	ENST00000286201.1	+	1	428	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	123	FZ.				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						GTGTCGTTCTCTGTGCGAGCG	0.642000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	65					0	0	0.054565	0	0
ZNF433	163059	broad.mit.edu	37	19	12126659	12126659	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr19:12126659T>G	ENST00000419886.2	-	5	1209	c.918A>C	c.(916-918)aaA>aaC	p.K306N	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.K341N			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TCCCACAATGTTTACATTCAT	0.388000													6	58					0	0	0.021553	0	0
B4GALT6	9331	broad.mit.edu	37	18	29211087	29211087	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr18:29211087C>T	ENST00000306851.5	-	6	907	c.611G>A	c.(610-612)cGt>cAt	p.R204H	B4GALT6_ENST00000383131.3_Missense_Mutation_p.R165H|B4GALT6_ENST00000237019.7_Missense_Mutation_p.R165H	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	204					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			AAGCATCGCACGGTTAAAAGG	0.398000													19	37					0	0	0.062417	0	0
SLC26A11	284129	broad.mit.edu	37	17	78223009	78223009	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr17:78223009A>G	ENST00000361193.3	+	16	1859	c.1579A>G	c.(1579-1581)Act>Gct	p.T527A	SLC26A11_ENST00000572725.1_Missense_Mutation_p.T527A|SLC26A11_ENST00000546047.2_Missense_Mutation_p.T527A|SLC26A11_ENST00000411502.3_Missense_Mutation_p.T527A	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	527	STAS.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CATCGACTACACTGTGGTGCT	0.672000													5	25					0	0	0.014758	0	0
PCDH15	65217	broad.mit.edu	37	10	55955480	55955480	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr10:55955480G>T	ENST00000373965.2	-	11	1662	c.1268C>A	c.(1267-1269)cCt>cAt	p.P423H	PCDH15_ENST00000373957.3_Missense_Mutation_p.P401H|PCDH15_ENST00000373955.1_Missense_Mutation_p.P423H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P386H|PCDH15_ENST00000320301.6_Missense_Mutation_p.P423H|PCDH15_ENST00000395438.1_Missense_Mutation_p.P423H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P423H|PCDH15_ENST00000395440.1_Missense_Mutation_p.P423H|PCDH15_ENST00000395446.1_Missense_Mutation_p.P423H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P423H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P401H|PCDH15_ENST00000361849.3_Missense_Mutation_p.P423H|PCDH15_ENST00000414778.1_Missense_Mutation_p.P428H|PCDH15_ENST00000395430.1_Missense_Mutation_p.P423H|PCDH15_ENST00000409834.1_Missense_Mutation_p.P27H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	423	Cadherin 4.				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)				TATTCTTAAAGGTGAAGTCAA	0.368000										HNSCC(58;0.16)			10	108					4.68919e-08	5.18998e-08	0.069234	1	0
MED12L	116931	broad.mit.edu	37	3	150908705	150908705	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr3:150908705A>T	ENST00000474524.1	+	13	1993	c.1955A>T	c.(1954-1956)gAt>gTt	p.D652V	MED12L_ENST00000309237.4_Missense_Mutation_p.D652V|MED12L_ENST00000422248.2_Missense_Mutation_p.D652V|MED12L_ENST00000273432.4_Missense_Mutation_p.D512V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	652					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGGACCATGATGTGAAAATG	0.483000													11	35					0	0	0.093190	0	0
APC	324	broad.mit.edu	37	5	112173816	112173816	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr5:112173816A>T	ENST00000457016.1	+	16	2905	c.2525A>T	c.(2524-2526)gAt>gTt	p.D842V	APC_ENST00000508376.2_Missense_Mutation_p.D842V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.D842V			P25054	APC_HUMAN	adenomatous polyposis coli	842	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGAAGCTTAGATAGTTCTCGT	0.403000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			17	43					0	0	0.146539	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27829391	27829391	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr12:27829391G>T	ENST00000318304.8	+	18	1775	c.1492G>T	c.(1492-1494)Ggg>Tgg	p.G498W	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G481W|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G467W|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G345W	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	498					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGGCCATTTGGGACCCTTCC	0.552000													11	227					7.03913e-09	7.94515e-09	0.093190	1	0
FAM47C	442444	broad.mit.edu	37	X	37026592	37026592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chrX:37026592C>T	ENST00000358047.3	+	1	161	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	37										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAAGCACAGGCGCCTGAGGTT	0.617000													17	25					0	0	0.055883	0	0
CXorf21	80231	broad.mit.edu	37	X	30577998	30577998	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chrX:30577998A>T	ENST00000378962.3	-	3	797	c.475T>A	c.(475-477)Tct>Act	p.S159T		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	159										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GGAATCTCAGATGACTTCAGC	0.453000													22	54					0	0	0.062417	0	0
LGALS12	85329	broad.mit.edu	37	11	63276452	63276452	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr11:63276452G>A	ENST00000415491.2	+	2	858	c.244G>A	c.(244-246)Gag>Aag	p.E82K	LGALS12_ENST00000394618.3_Missense_Mutation_p.E143K|LGALS12_ENST00000255684.5_Missense_Mutation_p.E143K|LGALS12_ENST00000340246.5_Missense_Mutation_p.E144K|LGALS12_ENST00000425950.2_Missense_Mutation_p.E82K	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	143	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTTCGGGAATGAGGAAGTGAA	0.592000													10	27					0	0	0.058154	0	0
BRINP3	339479	broad.mit.edu	37	1	190067993	190067993	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr1:190067993T>C	ENST00000367462.3	-	8	1687	c.1456A>G	c.(1456-1458)Att>Gtt	p.I486V	FAM5C_ENST00000534846.1_Missense_Mutation_p.I384V|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		486						extracellular region		p.I486V(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TCAAAGCCAATATAGTGATCG	0.522000													22	158					0	0	0.083992	0	0
LUZP2	338645	broad.mit.edu	37	11	24750809	24750809	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr11:24750809G>A	ENST00000533227.1	+	0	186				LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000336930.6_Missense_Mutation_p.D53N	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2							extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAGAGAACTTGATGGAATTAA	0.403000													4	62					0	0	0.021553	0	0
CNOT1	23019	broad.mit.edu	37	16	58592411	58592411	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr16:58592411G>T	ENST00000317147.5	-	18	2630	c.2298C>A	c.(2296-2298)ttC>ttA	p.F766L	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.F766L|CNOT1_ENST00000441024.2_Missense_Mutation_p.F766L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	766					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAATACCACTGAATGCAGTGG	0.463000													10	35					6.40141e-05	6.82019e-05	0.080935	1	0
ARL13B	200894	broad.mit.edu	37	3	93769695	93769695	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr3:93769695G>A	ENST00000535334.1	+	8	1383	c.860G>A	c.(859-861)aGa>aAa	p.R287K	ARL13B_ENST00000539730.1_Missense_Mutation_p.R111K|ARL13B_ENST00000303097.7_Missense_Mutation_p.R283K|ARL13B_ENST00000394222.3_Missense_Mutation_p.R390K|DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.R390K	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	390							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AAAGTCACTAGACTTCCAAAA	0.368000													13	43					0	0	0.038395	0	0
FUOM	282969	broad.mit.edu	37	10	135168929	135168929	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr10:135168929A>T	ENST00000368551.1	-	6	405	c.275T>A	c.(274-276)cTc>cAc	p.L92H	FUOM_ENST00000278025.4_3'UTR|FUOM_ENST00000368552.3_Missense_Mutation_p.L137H|FUOM_ENST00000447176.1_Missense_Mutation_p.L93H|FUOM_ENST00000465384.1_5'UTR					fucose mutarotase																		GTTTCCGTAGAGGGCCGTCTC	0.662000													5	22					0	0	0.029380	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	20					0	0	0.105934	0	0
PLCL1	5334	broad.mit.edu	37	2	199011631	199011631	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr2:199011631G>A	ENST00000428675.1	+	6	3631	c.3233G>A	c.(3232-3234)cGc>cAc	p.R1078H	PLCL1_ENST00000437704.2_Missense_Mutation_p.R980H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1078					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAGAGCAAGCGCAGCCTGGAA	0.512000													12	31					0	0	0.093190	0	0
MTFMT	123263	broad.mit.edu	37	15	65313852	65313852	+	Splice_Site	SNP	C	C	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr15:65313852C>A	ENST00000220058.4	-	4	658	c.645_splice	c.e4+1	p.M215_splice	MTFMT_ENST00000561025.1_5'UTR	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	215						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	GGAATTATACCATGTTGGCAC	0.383000													20	50					1.01871e-10	1.17306e-10	0.049695	1	0
SEMA3C	10512	broad.mit.edu	37	7	80435066	80435066	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr7:80435066G>A	ENST00000265361.3	-	7	1108	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F	SEMA3C_ENST00000544525.1_Missense_Mutation_p.L201F|SEMA3C_ENST00000536800.1_Missense_Mutation_p.L35F|SEMA3C_ENST00000419255.2_Missense_Mutation_p.L183F	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	183	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCAGAGAAAAGCTCCTCATCT	0.323000													17	34					0	0	0.146539	0	0
AVPI1	60370	broad.mit.edu	37	10	99437758	99437758	+	Silent	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr10:99437758C>T	ENST00000370626.3	-	3	879	c.312G>A	c.(310-312)ctG>ctA	p.L104L		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	104					cell cycle					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		GTGGGTTGGCCAGTGCAGAGT	0.522000													26	62					0	0	0.116897	0	0
HEPH	9843	broad.mit.edu	37	X	65476116	65476116	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chrX:65476116A>G	ENST00000519389.1	+	17	3181	c.3002A>G	c.(3001-3003)gAt>gGt	p.D1001G	HEPH_ENST00000419594.1_Missense_Mutation_p.D758G|HEPH_ENST00000343002.2_Missense_Mutation_p.D947G|HEPH_ENST00000441993.2_Missense_Mutation_p.D950G|HEPH_ENST00000336279.5_Missense_Mutation_p.D680G|HEPH_ENST00000374727.3_Missense_Mutation_p.D950G			Q9BQS7	HEPH_HUMAN	hephaestin	947	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGGTCCCAGGATCCAGGCAGT	0.413000													23	87					0	0	0.069288	0	0
ZNF365	22891	broad.mit.edu	37	10	64148197	64148197	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr10:64148197G>A	ENST00000395254.3	+	3	1066	c.786G>A	c.(784-786)gaG>gaA	p.E262E	ZNF365_ENST00000410046.3_Silent_p.E262E|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Silent_p.E262E	NM_014951.2	NP_055766.2	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)					CGGCAGCTGAGAAGGAGGTTC	0.473000													7	57					0	0	0.029380	0	0
GRM5	2915	broad.mit.edu	37	11	88242175	88242175	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr11:88242175A>T	ENST00000418177.2	-	10	3591	c.3224T>A	c.(3223-3225)cTc>cAc	p.L1075H	GRM5_ENST00000455756.2_Missense_Mutation_p.L1043H|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000305432.5_Missense_Mutation_p.L1043H|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305447.4_Missense_Mutation_p.L1075H			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1075					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)	CATGGAGTTGAGCTCGCTGAT	0.667000													3	7					0	0	0.115264	0	0
SLC9C2	284525	broad.mit.edu	37	1	173490489	173490489	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr1:173490489C>G	ENST00000367714.3	-	22	3112	c.2690G>C	c.(2689-2691)gGa>gCa	p.G897A	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	897					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CATTTCACCTCCTTTACAAAT	0.318000													7	51					0	0	0.058154	0	0
LONRF1	91694	broad.mit.edu	37	8	12586780	12586780	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr8:12586780G>C	ENST00000398246.3	-	9	1819	c.1750C>G	c.(1750-1752)Ctc>Gtc	p.L584V	LONRF1_ENST00000525024.1_Missense_Mutation_p.L10V|LONRF1_ENST00000533751.1_Missense_Mutation_p.L227V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	584	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		AATACATGGAGAGGGCAAGGC	0.388000													19	59					0	0	0.038395	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26205057	26205057	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr6:26205057T>G	ENST00000360441.4	+	1	200	c.185T>G	c.(184-186)tTt>tGt	p.F62C		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	62					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CTGAAGGTGTTTCTGGAAAAC	0.567000													13	88					0	0	0.119110	0	0
CHRNB2	1141	broad.mit.edu	37	1	154543837	154543837	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr1:154543837C>T	ENST00000368476.3	+	5	802	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	180					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GACCTACGACCGCACAGAGAT	0.577000													5	48					0	0	0.014758	0	0
SYNE2	23224	broad.mit.edu	37	14	64496627	64496627	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr14:64496627C>G	ENST00000358025.3	+	44	6959	c.6729C>G	c.(6727-6729)aaC>aaG	p.N2243K	SYNE2_ENST00000554584.1_Missense_Mutation_p.N2243K|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.N2243K	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2243					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			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)		CTGTGCAAAACTTGGACGGTC	0.338000													5	25					0	0	0.021553	0	0
ODF2	4957	broad.mit.edu	37	9	131221864	131221864	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr9:131221864G>A	ENST00000434106.2	+	3	414	c.51G>A	c.(49-51)aaG>aaA	p.K17K	ODF2_ENST00000535026.1_5'UTR|ODF2_ENST00000393533.2_Silent_p.K17K|ODF2_ENST00000372814.3_Silent_p.K61K|ODF2_ENST00000546203.1_Silent_p.K17K|ODF2_ENST00000303890.5_5'UTR|ODF2_ENST00000372796.4_Silent_p.K17K|ODF2_ENST00000372791.3_Silent_p.K17K|ODF2_ENST00000448249.3_5'UTR|ODF2_ENST00000351030.3_5'UTR	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	17					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CGTGTGGGAAGAACGGAGTAA	0.483000													9	13					0	0	0.105934	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281460	145281460	+	Silent	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr1:145281460A>G	ENST00000369340.3	+	5	834	c.390A>G	c.(388-390)aaA>aaG	p.K130K	RP11-458D21.5_ENST00000468030.1_Silent_p.K130K|NOTCH2NL_ENST00000362074.6_Silent_p.K130K|NOTCH2NL_ENST00000344859.3_Silent_p.K130K			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	130	EGF-like 4.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TCTCCTGCAAATGCCTCACAG	0.537000													37	404					0	0	0.131918	0	0
ZMYND8	23613	broad.mit.edu	37	20	45875011	45875011	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr20:45875011G>A	ENST00000311275.7	-	14	2218	c.1965C>T	c.(1963-1965)agC>agT	p.S655S	ZMYND8_ENST00000352431.2_Silent_p.S675S|ZMYND8_ENST00000262975.4_Silent_p.S655S|ZMYND8_ENST00000396281.4_Silent_p.S655S|ZMYND8_ENST00000536340.1_Silent_p.S682S|ZMYND8_ENST00000461685.1_Silent_p.S675S|ZMYND8_ENST00000355972.4_Silent_p.S655S|ZMYND8_ENST00000458360.2_Silent_p.S650S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Silent_p.S650S|ZMYND8_ENST00000471951.2_Silent_p.S675S|ZMYND8_ENST00000540497.1_Silent_p.S603S|ZMYND8_ENST00000446994.2_Silent_p.S592S|ZMYND8_ENST00000372023.3_Silent_p.S650S			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	655							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTGCCTTCTCGCTGGCTGGTG	0.502000													39	194					0	0	0.098360	0	0
SYT16	83851	broad.mit.edu	37	14	62567240	62567240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr14:62567240C>T	ENST00000430451.2	+	6	1950	c.1753C>T	c.(1753-1755)Cag>Tag	p.Q585*		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	585	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGCCCTCTTTCAGCTGTCTGA	0.502000													15	31					0	0	0.132662	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085740	42085740	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr19:42085740C>A	ENST00000407170.2	+	4	888	c.75C>A	c.(73-75)agC>agA	p.S25R	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S153R|CEACAM21_ENST00000401445.2_Missense_Mutation_p.S153R			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	153						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						AAGCCAGCAGCACCACAGTCA	0.537000													6	75					8.12818e-05	8.57975e-05	0.029380	1	0
LRRC15	131578	broad.mit.edu	37	3	194081302	194081302	+	Silent	SNP	G	G	A	rs143343570	byFrequency	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr3:194081302G>A	ENST00000347624.3	-	2	556	c.471C>T	c.(469-471)caC>caT	p.H157H	LRRC15_ENST00000428839.1_Silent_p.H163H|LRRC15_ENST00000439944.2_Silent_p.H163H	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	157						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGTGGTTGCCGTGCAACTGCA	0.572000													31	251					0	0	0.050027	0	0
LARGE	9215	broad.mit.edu	37	22	33780226	33780226	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr22:33780226G>A	ENST00000354992.2	-	9	1528	c.957C>T	c.(955-957)acC>acT	p.T319T	LARGE_ENST00000397394.2_Silent_p.T319T|LARGE_ENST00000402320.1_Silent_p.T319T|LARGE_ENST00000452586.2_Silent_p.T118T|LARGE_ENST00000437602.2_Silent_p.T319T|LARGE_ENST00000337431.2_Silent_p.T319T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	319					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)				CCCTCTCTGCGGTCAGCCTCC	0.512000													6	152					0	0	0.047766	0	0
VWA7	80737	broad.mit.edu	37	6	31743155	31743155	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr6:31743155G>T	ENST00000375686.3	-	4	802	c.565C>A	c.(565-567)Cct>Act	p.P189T	VWA7_ENST00000447450.1_Missense_Mutation_p.P189T|VWA7_ENST00000375688.4_Missense_Mutation_p.P189T|VWA7_ENST00000467576.1_5'UTR	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	189						extracellular region											AGGAGGTGAGGGTGTGGCTGC	0.612000													18	31					5.35267e-07	5.81147e-07	0.043863	1	0
GTF3C1	2975	broad.mit.edu	37	16	27476027	27476027	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr16:27476027C>G	ENST00000356183.4	-	34	5501	c.5486G>C	c.(5485-5487)aGa>aCa	p.R1829T	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1829T	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1829						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGGTCTTCTCTCTGGATGTC	0.672000													17	69					0	0	0.055883	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596426	11596426	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr1:11596426C>T	ENST00000294484.6	+	21	4000	c.3862C>T	c.(3862-3864)Cac>Tac	p.H1288Y	PTCHD2_ENST00000304391.6_Missense_Mutation_p.A174V|PTCHD2_ENST00000389575.3_Missense_Mutation_p.H1288Y	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1288					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-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;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCCGTGCGGCACGTGGGCGT	0.672000													26	30					0	0	0.099896	0	0
MUC16	94025	broad.mit.edu	37	19	9073955	9073955	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr19:9073955C>G	ENST00000397910.4	-	3	13694	c.13491G>C	c.(13489-13491)ttG>ttC	p.L4497F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4499	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						TGCTTGTGTTCAACATATCTG	0.453000													28	76					0	0	0.108266	0	0
ROCK1	6093	broad.mit.edu	37	18	18534911	18534911	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr18:18534911T>C	ENST00000399799.1	-	31	4626	c.3686A>G	c.(3685-3687)cAt>cGt	p.H1229R		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1229	Auto-inhibitory.|PH.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AATAAACTCATGGCCTTTGTG	0.413000													11	37					0	0	0.093190	0	0
EIF3H	8667	broad.mit.edu	37	8	117671059	117671059	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr8:117671059G>A	ENST00000521861.1	-	3	473	c.450C>T	c.(448-450)ctC>ctT	p.L150L	EIF3H_ENST00000276682.4_Silent_p.L164L	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	150					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					AACCATAAATGAGAACGACAG	0.413000													24	107					0	0	0.069288	0	0
ZNF99	7652	broad.mit.edu	37	19	22940586	22940586	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr19:22940586C>G	ENST00000397104.3	-	5	1851	c.1852G>C	c.(1852-1854)Gaa>Caa	p.E618Q	ZNF99_ENST00000596209.1_Missense_Mutation_p.E709Q					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCCACATTCTTCACATTTG	0.373000													16	38					0	0	0.146539	0	0
SLC29A2	3177	broad.mit.edu	37	11	66134014	66134014	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr11:66134014C>T	ENST00000357440.2	-	8	983	c.755G>A	c.(754-756)aGt>aAt	p.S252N	SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000546034.1_Missense_Mutation_p.S252N|SLC29A2_ENST00000544554.1_Missense_Mutation_p.S252N	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	252					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						TTTCTGGGGACTACTGGGAAT	0.577000													7	52					0	0	0.029380	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71503904	71503904	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr9:71503904T>A	ENST00000265382.3	+	7	631	c.326T>A	c.(325-327)aTc>aAc	p.I109N	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.I109N	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	109	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TAGTATTCCATCTGCAGTGAA	0.383000													41	68					0	0	0.098360	0	0
UROC1	131669	broad.mit.edu	37	3	126224562	126224562	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr3:126224562G>A	ENST00000290868.2	-	8	848	c.795C>T	c.(793-795)tgC>tgT	p.C265C	UROC1_ENST00000383579.3_Silent_p.C265C	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	265					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TCACACCGATGCACCCCACGA	0.642000													15	37					0	0	0.033300	0	0
LILRB4	11006	broad.mit.edu	37	19	55174502	55174502	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr19:55174502C>T	ENST00000391736.1	+	3	332	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LILRB4_ENST00000391734.3_Missense_Mutation_p.T6M|LILRB4_ENST00000430952.2_Missense_Mutation_p.T6M|LILRB4_ENST00000391733.3_Missense_Mutation_p.T6M|LILRB4_ENST00000270452.2_Missense_Mutation_p.T6M	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	6						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCCACCTTCACGGCTCTGCTC	0.602000											OREG0003670	type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	105					0	0	0.038147	0	0
ACSM2A	123876	broad.mit.edu	37	16	20480920	20480920	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr16:20480920G>T	ENST00000573854.1	+	4	589	c.475G>T	c.(475-477)Gct>Tct	p.A159S	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A159S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A159S|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A159S|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A80S|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A159S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	159					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						GGCTATTGTTGCTGGGGATGA	0.458000													52	128					2.76378e-25	3.24816e-25	0.139131	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144879069	144879069	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr1:144879069G>A	ENST00000369359.4	-	30	4827	c.4789C>T	c.(4789-4791)Ctg>Ttg	p.L1597L	PDE4DIP_ENST00000369354.3_Silent_p.L1461L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.L1597L|PDE4DIP_ENST00000369356.4_Silent_p.L1461L|PDE4DIP_ENST00000313382.9_Silent_p.L1417L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1461	NBPF.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.L1461V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTCAGCCAGCTTCTCTTCT	0.517000			T	PDGFRB	MPD								15	221					0	0	0.033300	0	0
MED13	9969	broad.mit.edu	37	17	60032881	60032881	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr17:60032881T>A	ENST00000397786.2	-	26	5906	c.5830A>T	c.(5830-5832)Atg>Ttg	p.M1944L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1944					androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATGTCTGCATATTTAGAGTC	0.343000													23	134					0	0	0.099896	0	0
PCLO	27445	broad.mit.edu	37	7	82387992	82387992	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr7:82387992T>G	ENST00000333891.8	-	25	15665	c.15328A>C	c.(15328-15330)Acc>Ccc	p.T5110P		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5033					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCAATCAAGGTCTTTTTCATA	0.333000													32	107					0	0	0.134883	0	0
GART	2618	broad.mit.edu	37	21	34897183	34897183	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr21:34897183T>C	ENST00000381831.3	-	11	1454	c.1191A>G	c.(1189-1191)atA>atG	p.I397M	GART_ENST00000381839.3_Missense_Mutation_p.I397M|GART_ENST00000361093.5_Missense_Mutation_p.I397M|GART_ENST00000381815.4_Missense_Mutation_p.I397M	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	397					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CAAGGGCTGATATGAGATTTT	0.488000													34	70					0	0	0.069456	0	0
TET1	80312	broad.mit.edu	37	10	70333405	70333405	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr10:70333405C>T	ENST00000373644.4	+	2	1519	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	437					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCTGTTCCTCCAAATCCAATT	0.468000													27	102					0	0	0.099896	0	0
DNAH2	146754	broad.mit.edu	37	17	7734767	7734767	+	Silent	SNP	G	G	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr17:7734767G>C	ENST00000572933.1	+	81	13979	c.12519G>C	c.(12517-12519)ggG>ggC	p.G4173G	DNAH2_ENST00000389173.2_Silent_p.G4173G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4173					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACTATGAGGGGACTCAAAAAC	0.527000													12	37					0	0	0.093190	0	0
S1PR4	8698	broad.mit.edu	37	19	3179854	3179854	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr19:3179854T>A	ENST00000246115.3	+	1	1119	c.1064T>A	c.(1063-1065)cTg>cAg	p.L355Q		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	355					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GACAGCTCTCTGAGGCCAAGG	0.682000													30	89					0	0	0.059317	0	0
MIOS	54468	broad.mit.edu	37	7	7636027	7636027	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr7:7636027G>A	ENST00000340080.4	+	11	2757	c.2336G>A	c.(2335-2337)cGa>cAa	p.R779Q	MIOS_ENST00000405785.1_Missense_Mutation_p.R779Q	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	779										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTGGCTGTCGAAAACCACTT	0.428000													11	154					0	0	0.132662	0	0
C10orf90	118611	broad.mit.edu	37	10	128191398	128191398	+	Silent	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr10:128191398A>G	ENST00000392694.1	-	4	1369	c.1108T>C	c.(1108-1110)Tta>Cta	p.L370L	C10orf90_ENST00000284694.7_Intron|C10orf90_ENST00000356858.3_Intron|C10orf90_ENST00000544758.1_Intron|C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000368674.1_5'UTR			Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	0										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CCTTCTTGTAATAAGTCTGTA	0.333000													27	92					0	0	0.134883	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88293287	88293287	+	Silent	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr9:88293287A>T	ENST00000357081.3	-	5	396	c.252T>A	c.(250-252)ctT>ctA	p.L84L	AGTPBP1_ENST00000376081.4_Silent_p.L84L|AGTPBP1_ENST00000337006.4_Silent_p.L26L|AGTPBP1_ENST00000376083.3_Silent_p.L84L|AGTPBP1_ENST00000491784.1_Intron|AGTPBP1_ENST00000432218.1_5'UTR|AGTPBP1_ENST00000376080.1_Silent_p.L26L|AGTPBP1_ENST00000376109.3_Silent_p.L136L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	84					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTAAGATATTAAGTGTAGTTT	0.308000													4	15					0	0	0.009096	0	0
RNF135	84282	broad.mit.edu	37	17	29326075	29326075	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr17:29326075T>C	ENST00000328381.5	+	5	2038	c.1165T>C	c.(1165-1167)Ttc>Ctc	p.F389L	RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000535306.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	389	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				AAAGCTTGCCTTCTATTCAGT	0.532000													25	71					0	0	0.134883	0	0
DHRS1	115817	broad.mit.edu	37	14	24760813	24760813	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr14:24760813A>G	ENST00000288111.7	-	7	949	c.673T>C	c.(673-675)Tct>Cct	p.S225P	DHRS1_ENST00000396813.1_Missense_Mutation_p.S225P|DHRS1_ENST00000559088.1_5'UTR	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	225						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		GTTTCCGCAGATGAGAAGGCT	0.488000													34	218					0	0	0.064281	0	0
MROH2B	133558	broad.mit.edu	37	5	41065470	41065470	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr5:41065470G>A	ENST00000399564.4	-	4	774	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.F108F(1)									CAAGCACAACGAATTCATCTG	0.418000													12	18					0	0	0.093190	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146077680	146077680	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr5:146077680C>T	ENST00000394413.3	-	3	766	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	PPP2R2B_ENST00000394410.2_Missense_Mutation_p.E55K|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.E55K|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.E72K|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.E66K|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.E66K|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.E124K|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.E69K|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.E66K|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.E132K|PPP2R2B_ENST00000530902.1_5'UTR			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	66					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATTGTATTCACCCCTACGA	0.373000													33	52					0	0	0.074837	0	0
DNAH3	55567	broad.mit.edu	37	16	21069448	21069448	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr16:21069448T>A	ENST00000261383.3	-	27	3882	c.3883A>T	c.(3883-3885)Acc>Tcc	p.T1295S	DNAH3_ENST00000415178.1_Missense_Mutation_p.T1295S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1295	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCTCCTGGGTCCAAAAGATG	0.478000													16	36					0	0	0.146539	0	0
KMT2D	8085	broad.mit.edu	37	12	49446699	49446699	+	Splice_Site	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr12:49446699T>C	ENST00000301067.7	-	8	1110	c.1112_splice	c.e8+1	p.R371_splice		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACCACTTACCTGCTACACACC	0.547000													30	91					0	0	0.054565	0	0
AQP6	363	broad.mit.edu	37	12	50367087	50367087	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr12:50367087C>T	ENST00000315520.5	+	1	468	c.131C>T	c.(130-132)tCa>tTa	p.S44L	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	44					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GGCGTGGGCTCAGTCATGCGC	0.607000													23	80					0	0	0.083992	0	0
PLD1	5337	broad.mit.edu	37	3	171394576	171394576	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr3:171394576C>T	ENST00000356327.5	-	17	2000	c.1930G>A	c.(1930-1932)Gcc>Acc	p.A644T	PLD1_ENST00000340989.4_Missense_Mutation_p.A682T|PLD1_ENST00000342215.6_Silent_p.L572L|PLD1_ENST00000351298.4_Missense_Mutation_p.A682T	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	682	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTGCAGAGGCAATGTCATGC	0.527000													13	78					0	0	0.105934	0	0
POMGNT2	84892	broad.mit.edu	37	3	43122688	43122688	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr3:43122688C>G	ENST00000344697.2	-	2	581	c.236G>C	c.(235-237)tGc>tCc	p.C79S	GTDC2_ENST00000441964.1_Missense_Mutation_p.C79S	NM_032806.4	NP_116195.2																					CTTGAAGCGGCAGATGCGGTC	0.617000													13	32					0	0	0.119110	0	0
DCDC1	341019	broad.mit.edu	37	11	31113007	31113007	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr11:31113007G>A	ENST00000597505.1	-	15	2169	c.2170C>T	c.(2170-2172)Cat>Tat	p.H724Y	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)					CTGATAGGATGACCAATAGCC	0.393000													3	11					0	0	0.115264	0	0
HAL	3034	broad.mit.edu	37	12	96377733	96377733	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr12:96377733T>C	ENST00000261208.3	-	15	1611	c.1243A>G	c.(1243-1245)Aag>Gag	p.K415E	HAL_ENST00000538703.1_Missense_Mutation_p.K415E|HAL_ENST00000541929.1_Missense_Mutation_p.K207E	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	415					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ATGATGTTCTTCACAAATGCT	0.338000													21	39					0	0	0.069288	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	72					0	0	0.009096	0	0
FBLN2	2199	broad.mit.edu	37	3	13611903	13611903	+	Silent	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr3:13611903G>T	ENST00000404922.3	+	2	167	c.48G>T	c.(46-48)ctG>ctT	p.L16L	FBLN2_ENST00000295760.7_Silent_p.L16L|FBLN2_ENST00000535798.1_Silent_p.L42L|FBLN2_ENST00000492059.1_Silent_p.L16L	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	16						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTCTGGGCCTGGCCCTGGCCC	0.706000													3	3					1.024e-07	1.12246e-07	0.014758	1	0
ZNF630	57232	broad.mit.edu	37	X	47918974	47918974	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chrX:47918974G>A	ENST00000276054.4	-	5	1419	c.485C>T	c.(484-486)aCt>aTt	p.T162I	ZNF630_ENST00000442455.3_Missense_Mutation_p.T272I|ZNF630_ENST00000409324.3_Missense_Mutation_p.T286I|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TTTCTCTCCAGTATGAATTCT	0.388000													32	100					0	0	0.134883	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													5	39					0	0	0.014758	0	0
SENP1	29843	broad.mit.edu	37	12	48468185	48468185	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr12:48468185T>C	ENST00000004980.5	-	8	1340	c.862A>G	c.(862-864)Act>Gct	p.T288A	SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Missense_Mutation_p.T288A|SENP1_ENST00000549518.1_Missense_Mutation_p.T288A|SENP1_ENST00000549595.1_Missense_Mutation_p.T288A|SENP1_ENST00000551330.1_Missense_Mutation_p.T288A			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	288					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGATGAAGAGTACCAGAATCT	0.408000													18	98					0	0	0.038395	0	0
RAD50	10111	broad.mit.edu	37	5	131911505	131911505	+	Silent	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr5:131911505C>T	ENST00000265335.6	+	3	637	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	84					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAGATTCGTCTGCAATTTCG	0.378000								Homologous recombination					12	46					0	0	0.105934	0	0
BBS10	79738	broad.mit.edu	37	12	76741323	76741323	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr12:76741323A>T	ENST00000393262.3	-	2	525	c.442T>A	c.(442-444)Tac>Aac	p.Y148N		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	148					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTACTTAGGTACTGGTCCATA	0.393000									Bardet-Biedl syndrome				11	65					0	0	0.069234	0	0
C2orf57	165100	broad.mit.edu	37	2	232458286	232458286	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr2:232458286A>C	ENST00000313965.2	+	1	712	c.624A>C	c.(622-624)gaA>gaC	p.E208D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	208										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CTGAAGCTGAAGCTTTACCAT	0.582000													10	117					0	0	0.058154	0	0
EPHA10	284656	broad.mit.edu	37	1	38227471	38227471	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr1:38227471G>A	ENST00000373048.4	-	3	455	c.456C>T	c.(454-456)atC>atT	p.I152I	EPHA10_ENST00000427468.2_Silent_p.I152I|EPHA10_ENST00000319637.6_Silent_p.I152I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	152						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGATCGTGTCGATTTTGCGGG	0.662000													13	28					0	0	0.093190	0	0
CEP350	9857	broad.mit.edu	37	1	179983098	179983098	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr1:179983098C>G	ENST00000367607.3	+	10	1928	c.1510C>G	c.(1510-1512)Cta>Gta	p.L504V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	504						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TATAAAGAAACTAGCTTCATC	0.368000													18	43					0	0	0.033300	0	0
MDN1	23195	broad.mit.edu	37	6	90497660	90497660	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr6:90497660G>A	ENST00000369393.3	-	8	1362	c.1247C>T	c.(1246-1248)cCt>cTt	p.P416L	MDN1_ENST00000428876.1_Missense_Mutation_p.P416L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	416					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCCAAGAGAGGGATCAGCAC	0.408000													25	36					0	0	0.099896	0	0
MAP9	79884	broad.mit.edu	37	4	156274418	156274418	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr4:156274418C>A	ENST00000311277.4	-	11	1718	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N	MAP9_ENST00000515654.1_Missense_Mutation_p.K461N|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000593387.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	485					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CAGCTATTTTCTTTGCTTCCT	0.353000													10	53					1.76689e-08	1.97476e-08	0.058154	1	0
HOOK1	51361	broad.mit.edu	37	1	60314747	60314747	+	Silent	SNP	T	T	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr1:60314747T>G	ENST00000371208.3	+	12	1391	c.1134T>G	c.(1132-1134)gtT>gtG	p.V378V	HOOK1_ENST00000395561.2_Silent_p.V336V|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	378	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GACATTAGGTTCAAGATCTTC	0.338000													20	51					0	0	0.055883	0	0
PODXL	5420	broad.mit.edu	37	7	131194197	131194197	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr7:131194197C>T	ENST00000541194.1	-	4	1213	c.956G>A	c.(955-957)aGc>aAc	p.S319N	PODXL_ENST00000378555.3_Missense_Mutation_p.S317N|PODXL_ENST00000537928.1_Missense_Mutation_p.S285N|PODXL_ENST00000322985.9_Missense_Mutation_p.S285N	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	317	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGCTGTGGGGCTGGAGCTCAT	0.602000													45	85					0	0	0.139131	0	0
PIGK	10026	broad.mit.edu	37	1	77632420	77632420	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:77632420delA	ENST00000370812.3	-	5	494	c.471delT	c.(469-471)atfs	p.I157fs	PIGK_ENST00000445065.1_Frame_Shift_Del_p.I63fs|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000359130.1_Frame_Shift_Del_p.I157fs|PIGK_ENST00000370813.5_Frame_Shift_Del_p.I81fs	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	157					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TATAAATTAGAATATTGCTTC	0.333													18	33	---	---	---	---					
RBMXL1	494115	broad.mit.edu	37	1	89448604	89448605	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:89448604_89448605insGG	ENST00000399794.2	-	3	1620_1621	c.905_906insCC	c.(904-906)ctcfs	p.L302fs	CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Frame_Shift_Ins_p.L302fs|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000446900.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	302	Ser-rich.						nucleotide binding|RNA binding										CACCATAAGATGGCGGGGGCCC	0.475													8	309	---	---	---	---					
USP21	27005	broad.mit.edu	37	1	161132797	161132798	+	Frame_Shift_Ins	INS	-	-	T	rs147410329		TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:161132797_161132798insT	ENST00000368002.3	+	7	1359_1360	c.982_983insT	c.(982-984)tgcfs	p.C328fs	USP21_ENST00000368001.1_Frame_Shift_Ins_p.C328fs|USP21_ENST00000487163.1_3'UTR|USP21_ENST00000289865.8_Frame_Shift_Ins_p.C328fs	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	328					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCACCGATACTTGCCAATGGT	0.594													40	88	---	---	---	---					
IAH1	285148	broad.mit.edu	37	2	9628388	9628388	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:9628388delT	ENST00000470914.1	+	5	654	c.338delT	c.(337-339)cgfs	p.L114fs	IAH1_ENST00000545602.1_Frame_Shift_Del_p.L114fs|IAH1_ENST00000482918.1_Frame_Shift_Del_p.L114fs|IAH1_ENST00000497473.1_Frame_Shift_Del_p.L227fs			Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	227					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTACCTTTGCTGCTTCCTTAC	0.433													36	84	---	---	---	---					
CD207	50489	broad.mit.edu	37	2	71060135	71060136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:71060135_71060136insC	ENST00000410009.3	-	4	657_658	c.612_613insG	c.(610-615)ggacttfs	p.L205fs		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	205	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TAATAGAAGTTCCCCTTGAAGT	0.446													21	61	---	---	---	---					
PLSCR1	5359	broad.mit.edu	37	3	146246480	146246494	+	In_Frame_Del	DEL	ACTGGCTGATTATAT	ACTGGCTGATTATAT	-	rs147509085	byFrequency	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:146246480_146246494delACTGGCTGATTATAT	ENST00000342435.4	-	4	629_643	c.219_233delATATAATCAGCCAGT	c.(217-234)gtt>gt	p.VYNQPV73del	PLSCR1_ENST00000487389.1_In_Frame_Del_p.VYNQPV66del|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	73					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						TGCAGCTCCAACTGGCTGATTATATACTGGCTGAT	0.521													9	124	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187629852	187629853	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr4:187629852_187629853insT	ENST00000441802.2	-	2	1338_1339	c.1129_1130insA	c.(1129-1131)tgafs	p.*377fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	377	Cadherin 3.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCAAATTCACTTATTTCTGCT	0.431										HNSCC(5;0.00058)			36	50	---	---	---	---					
GTF3C6	112495	broad.mit.edu	37	6	111288940	111288941	+	Frame_Shift_Ins	INS	-	-	T	rs41289884	byFrequency	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:111288940_111288941insT	ENST00000329970.7	+	6	799_800	c.589_590insT	c.(589-591)accfs	p.T197fs	GTF3C6_ENST00000480191.1_3'UTR	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	197						transcription factor TFIIIC complex	DNA binding|protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TCTTATTGATATACCTTCTGAG	0.371													35	78	---	---	---	---					
GNB2	2783	broad.mit.edu	37	7	100274423	100274424	+	Splice_Site	DEL	GT	GT	-			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:100274423_100274424delGT	ENST00000303210.4	+	4	685		c.e4+1		GNB2_ENST00000436220.1_Splice_Site|GNB2_ENST00000424361.1_Splice_Site|GNB2_ENST00000393924.1_Splice_Site|GNB2_ENST00000393926.1_Splice_Site|GNB2_ENST00000427895.1_Intron|GNB2_ENST00000419828.1_Intron	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2						cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCGACTCAAGGTGTGTGTGTGT	0.634													2	4	---	---	---	---					
KIAA2026	158358	broad.mit.edu	37	9	5968043	5968044	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:5968043_5968044insT	ENST00000399933.3	-	3	2186_2187	c.2187_2188insA	c.(2185-2190)aacaaafs	p.NK729fs	KIAA2026_ENST00000381461.2_Frame_Shift_Ins_p.NK729fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	729	Lys-rich.							p.A730fs*15(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGTGTTTTGCTTTTTTTTTGA	0.327													2	4	---	---	---	---					
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703995	+	RNA	DEL	T	T	-	rs113703393		TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:53703995delT	ENST00000597550.1	+	0	232																											TGTTTCCCCCttttttttttt	0.473													5	4	---	---	---	---					
PIGK	10026	broad.mit.edu	37	1	77632420	77632420	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr1:77632420delA	ENST00000370812.3	-	5	494	c.471delT	c.(469-471)atfs	p.I157fs	PIGK_ENST00000359130.1_Frame_Shift_Del_p.I157fs|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Frame_Shift_Del_p.I81fs|PIGK_ENST00000445065.1_Frame_Shift_Del_p.I63fs	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	157					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TATAAATTAGAATATTGCTTC	0.333													18	33	---	---	---	---					
USP21	27005	broad.mit.edu	37	1	161132797	161132798	+	Frame_Shift_Ins	INS	-	-	T	rs147410329		TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr1:161132797_161132798insT	ENST00000368002.3	+	7	1359_1360	c.982_983insT	c.(982-984)tgcfs	p.C328fs	USP21_ENST00000289865.8_Frame_Shift_Ins_p.C328fs|USP21_ENST00000487163.1_3'UTR|USP21_ENST00000368001.1_Frame_Shift_Ins_p.C328fs	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	328					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCACCGATACTTGCCAATGGT	0.594													40	88	---	---	---	---					
IAH1	285148	broad.mit.edu	37	2	9628388	9628388	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr2:9628388delT	ENST00000470914.1	+	5	654	c.338delT	c.(337-339)cgfs	p.L114fs	IAH1_ENST00000497473.1_Frame_Shift_Del_p.L227fs|IAH1_ENST00000482918.1_Frame_Shift_Del_p.L114fs|IAH1_ENST00000545602.1_Frame_Shift_Del_p.L114fs			Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	227					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTACCTTTGCTGCTTCCTTAC	0.433													36	84	---	---	---	---					
CD207	50489	broad.mit.edu	37	2	71060135	71060136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr2:71060135_71060136insC	ENST00000410009.3	-	4	657_658	c.612_613insG	c.(610-615)ggacttfs	p.L205fs		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	205	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TAATAGAAGTTCCCCTTGAAGT	0.446													21	61	---	---	---	---					
PLSCR1	5359	broad.mit.edu	37	3	146246480	146246494	+	In_Frame_Del	DEL	ACTGGCTGATTATAT	ACTGGCTGATTATAT	-	rs147509085	byFrequency	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr3:146246480_146246494delACTGGCTGATTATAT	ENST00000342435.4	-	4	629_643	c.219_233delATATAATCAGCCAGT	c.(217-234)gtt>gt	p.VYNQPV73del	PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_In_Frame_Del_p.VYNQPV66del	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	73					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						TGCAGCTCCAACTGGCTGATTATATACTGGCTGAT	0.521													9	124	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187629852	187629853	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr4:187629852_187629853insT	ENST00000441802.2	-	2	1338_1339	c.1129_1130insA	c.(1129-1131)tgafs	p.*377fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	377	Cadherin 3.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCAAATTCACTTATTTCTGCT	0.431										HNSCC(5;0.00058)			36	50	---	---	---	---					
GTF3C6	112495	broad.mit.edu	37	6	111288940	111288941	+	Frame_Shift_Ins	INS	-	-	T	rs41289884	byFrequency	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr6:111288940_111288941insT	ENST00000329970.7	+	6	799_800	c.589_590insT	c.(589-591)accfs	p.T197fs	GTF3C6_ENST00000480191.1_3'UTR	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	197						transcription factor TFIIIC complex	DNA binding|protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TCTTATTGATATACCTTCTGAG	0.371													35	78	---	---	---	---					
GNB2	2783	broad.mit.edu	37	7	100274423	100274424	+	Splice_Site	DEL	GT	GT	-			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr7:100274423_100274424delGT	ENST00000303210.4	+	4	685		c.e4+1		GNB2_ENST00000393924.1_Splice_Site|GNB2_ENST00000427895.1_Intron|GNB2_ENST00000419828.1_Intron|GNB2_ENST00000436220.1_Splice_Site|GNB2_ENST00000393926.1_Splice_Site|GNB2_ENST00000424361.1_Splice_Site	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2						cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCGACTCAAGGTGTGTGTGTGT	0.634													2	4	---	---	---	---					
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	RNA	INS	-	-	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	f2192c96-2c1b-435a-ba30-a29247b9f1b7	g.chr22:18843723_18843724insA	ENST00000412938.1	+	0	2337																											AGGGGCACCCCACGGCCTGGAG	0.619													5	10	---	---	---	---