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
IL27RA	9466	broad.mit.edu	37	19	14159887	14159887	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:14159887G>T	ENST00000263379.2	+	9	1361	c.1236G>T	c.(1234-1236)gaG>gaT	p.E412D		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	412					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GGTTCAGGGAGGAATTAGGTA	0.602000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	66					1.23904e-05	1.29091e-05	1	1	0
IFI27	3429	broad.mit.edu	37	14	94582170	94582170	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:94582170G>A	ENST00000555744.1	+	4	353	c.165G>A	c.(163-165)gcG>gcA	p.A55A	IFI27_ENST00000557634.1_Silent_p.A45A|IFI27_ENST00000444961.1_Silent_p.A58A|IFI27_ENST00000557098.1_Silent_p.A10A|IFI27_ENST00000448882.1_Silent_p.A58A|IFI27_ENST00000298902.5_Silent_p.A55A			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	55					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		GCTTCACTGCGGCGGGAATCG	0.642000													6	8					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2142498	2142498	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:2142498T>A	ENST00000262304.4	-	39	11460	c.11252A>T	c.(11251-11253)cAg>cTg	p.Q3751L	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.Q3750L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3751			Missing (in ADPKD1).|Q -> R (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGCCGCACCTGCCGCAGCCG	0.652000													6	13					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5633750	5633750	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:5633750C>G	ENST00000310917.2	-	11	1971	c.1240G>C	c.(1240-1242)Gag>Cag	p.E414Q	EVC2_ENST00000344938.1_Missense_Mutation_p.E494Q|EVC2_ENST00000344408.5_Missense_Mutation_p.E494Q	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	494						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TTGCTGCACTCTACAGCAGAC	0.512000													8	47					0	0	1	0	0
ZC3H10	84872	broad.mit.edu	37	12	56515546	56515546	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:56515546G>A	ENST00000257940.2	+	3	1476	c.1200G>A	c.(1198-1200)tcG>tcA	p.S400S	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	400							nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			TGGCTGTATCGATGGCCCAAC	0.592000													8	70					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133313491	133313491	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:133313491C>T	ENST00000539605.1	-	7	8079	c.1395G>A	c.(1393-1395)ctG>ctA	p.L465L	ANKLE2_ENST00000337516.5_Silent_p.L527L|ANKLE2_ENST00000357997.5_Silent_p.L527L			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	527						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGGCTGGACTCAGGGGCCCTG	0.627000													40	61					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45496010	45496010	+	Missense_Mutation	SNP	C	C	T	rs141261045		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:45496010C>T	ENST00000541297.2	+	14	2288	c.1823C>T	c.(1822-1824)aCg>aTg	p.T608M	CLPTM1_ENST00000337392.5_Missense_Mutation_p.T622M|CLPTM1_ENST00000546079.1_Missense_Mutation_p.T520M			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	622					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GGGGCCCTCACGCCCACACCT	0.711000													6	70					0	0	1	0	0
PSPH	5723	broad.mit.edu	37	7	56079478	56079478	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:56079478G>T	ENST00000395471.3	-	8	1460	c.655C>A	c.(655-657)Ctg>Atg	p.L219M	PSPH_ENST00000275605.3_Missense_Mutation_p.L219M|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase	219					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTCCCAGCAGCTCTACAAAA	0.378000													22	122					3.28513e-13	3.66104e-13	1	1	0
BDP1	55814	broad.mit.edu	37	5	70806316	70806316	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:70806316G>A	ENST00000358731.4	+	17	3660	c.3397G>A	c.(3397-3399)Gag>Aag	p.E1133K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1133	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAAGACACCAGAGGTGATTGA	0.478000													19	59					0	0	1	0	0
UBE2D4	51619	broad.mit.edu	37	7	43982600	43982600	+	Silent	SNP	T	T	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:43982600T>C	ENST00000222402.3	+	4	257	c.168T>C	c.(166-168)ttT>ttC	p.F56F	POLR2J4_ENST00000427076.1_RNA|UBE2D4_ENST00000394798.4_Silent_p.F18F|UBE2D4_ENST00000446008.1_Silent_p.F56F	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)						protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						CCATCCACTTTCCTACAGATT	0.507000													64	90					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235907458	235907458	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:235907458C>G	ENST00000389794.3	-	30	8147		c.e30-1		LYST_ENST00000389793.2_Splice_Site			Q99698	LYST_HUMAN	lysosomal trafficking regulator						defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GAATTAAATTCTTTGAATTGA	0.264000													4	47					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151879673	151879673	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:151879673G>A	ENST00000355193.2	-	36	5490	c.5272C>T	c.(5272-5274)Cgt>Tgt	p.R1758C	KMT2C_ENST00000262189.6_Missense_Mutation_p.R1758C					lysine (K)-specific methyltransferase 2C																		CTTTTCTGACGCATTTGCTAT	0.363000													28	59					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818423	200818423	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:200818423G>A	ENST00000358823.2	+	11	2796	c.2526G>A	c.(2524-2526)gaG>gaA	p.E842E	CAMSAP2_ENST00000236925.4_Silent_p.E853E|CAMSAP2_ENST00000413307.2_Silent_p.E826E	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	853						cytoplasm|microtubule	protein binding										AGAGCATGGAGAATCCTCAAG	0.413000													4	116					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55716720	55716720	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:55716720G>C	ENST00000376350.3	-	4	615	c.593C>G	c.(592-594)tCc>tGc	p.S198C	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	198	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGTCTCCCGGGAGCTGTTGAT	0.507000													8	159					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179965793	179965793	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:179965793G>A	ENST00000367607.3	+	6	919	c.501G>A	c.(499-501)atG>atA	p.M167I		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	167						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						GTAACTGGATGATAGGCAGTC	0.418000													19	15					0	0	1	0	0
KLHL17	339451	broad.mit.edu	37	1	897016	897016	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:897016G>A	ENST00000338591.3	+	3	482	c.375G>A	c.(373-375)atG>atA	p.M125I		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	125	BTB.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGATGAGATGAGCGAGAGCC	0.657000													16	5					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891297	2891297	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr18:2891297C>T	ENST00000254528.3	+	4	1331	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	391					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.S391*(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAGGAGCCTTCAGCCCAGGCA	0.488000													27	34					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284000													4	70					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21932046	21932046	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:21932046G>A	ENST00000328843.6	+	78	12563	c.12532G>A	c.(12532-12534)Gaa>Aaa	p.E4178K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E4171K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4178					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTTCAAGACTGAAGATGAACT	0.478000									Kartagener syndrome				124	215					0	0	1	0	0
CABLES1	91768	broad.mit.edu	37	18	20735805	20735805	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr18:20735805G>A	ENST00000420687.2	+	0	17				CABLES1_ENST00000256925.7_Intron|CABLES1_ENST00000400473.2_Intron|CABLES1_ENST00000585061.1_Intron	NM_138375.2	NP_612384.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1						blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTTTCTTCCTGGTGTTTGAAT	0.423000													4	34					0	0	1	0	0
CIAO1	9391	broad.mit.edu	37	2	96933152	96933152	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:96933152C>T	ENST00000488633.1	+	2	452	c.233C>T	c.(232-234)tCt>tTt	p.S78F	CIAO1_ENST00000469320.1_3'UTR	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	78					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						TACCTGGCCTCTGCCAGCTTT	0.547000													13	120					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214295	140214295	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:140214295C>T	ENST00000525929.1	+	1	327	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.I109I	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTGGAAAGGC	0.552000													29	214					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183868005	183868005	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:183868005G>C	ENST00000361354.4	-	3	640	c.268C>G	c.(268-270)Ctg>Gtg	p.L90V	NCKAP1_ENST00000360982.2_Missense_Mutation_p.L96V	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TATAATGCCAGATTTTTCAGA	0.254000													7	31					0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43139962	43139962	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr20:43139962G>C	ENST00000342374.4	-	4	600	c.443C>G	c.(442-444)tCt>tGt	p.S148C	SERINC3_ENST00000541235.1_Missense_Mutation_p.S93C|SERINC3_ENST00000255175.1_Missense_Mutation_p.S148C	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	148						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GATGTAGAAAGAGCCAACCAT	0.353000													20	22					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149073667	149073667	+	Silent	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:149073667A>G	ENST00000355292.3	-	6	2837	c.2475T>C	c.(2473-2475)caT>caC	p.H825H	NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000358102.3_Silent_p.H821H|NR3C2_ENST00000511528.1_Silent_p.H825H|NR3C2_ENST00000512865.1_Silent_p.H704H|NR3C2_ENST00000344721.4_Silent_p.H821H|RP11-76G10.1_ENST00000514843.1_RNA			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	821	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGCTGTTCGTATGTTTGTACG	0.368000													7	81					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137293588	137293588	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr9:137293588C>G	ENST00000481739.1	+	2	191	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	47	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCCGGGACAGCTGCATTCTCC	0.697000													56	28					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103373850	103373850	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:103373850G>C	ENST00000520539.1	-	2	673	c.67C>G	c.(67-69)Cga>Gga	p.R23G	UBR5_ENST00000521922.1_Missense_Mutation_p.R23G|UBR5_ENST00000220959.4_Missense_Mutation_p.R23G	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	23					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.R23G(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GAAACTTCTCGTAACCTTTAA	0.264000													5	62					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227307535	227307535	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:227307535C>T	ENST00000366769.3	-	12	2908	c.1617G>A	c.(1615-1617)acG>acA	p.T539T	CDC42BPA_ENST00000535525.1_Silent_p.T539T|CDC42BPA_ENST00000334218.5_Silent_p.T539T|CDC42BPA_ENST00000366766.2_Silent_p.T539T|CDC42BPA_ENST00000366764.2_Silent_p.T539T|CDC42BPA_ENST00000366765.3_Silent_p.T539T|CDC42BPA_ENST00000366767.3_Silent_p.T539T	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	539					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTTGTTGTAACGTTTTGATTT	0.308000													3	18					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45673353	45673353	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:45673353C>T	ENST00000310806.4	-	17	3816	c.3358G>A	c.(3358-3360)Gaa>Aaa	p.E1120K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1120					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCTTTCTCTTCTTCATCTAAA	0.289000													20	28					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108196036	108196036	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:108196036G>A	ENST00000278616.4	+	46	6957		c.e46-1		ATM_ENST00000452508.2_Splice_Site|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated						cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTGGCATTCAGATCAGTCACA	0.328000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			48	14					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60695125	60695125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:60695125C>T	ENST00000005286.4	+	3	481	c.328C>T	c.(328-330)Cga>Tga	p.R110*	TMEM132A_ENST00000453848.2_Nonsense_Mutation_p.R110*	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	110						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGTCCCCCCTCGAGTCACTGA	0.602000													12	169					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	42					0	0	1	0	0
SRSF2	6427	broad.mit.edu	37	17	74732295	74732295	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:74732295C>A	ENST00000392485.2	-	2	786	c.614G>T	c.(613-615)cGa>cTa	p.R205L	RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.R193L|SRSF2_ENST00000359995.5_Missense_Mutation_p.R205L	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	205	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						ACTCTTCGATCGCGACCTGGA	0.542000			Mis		"""MDS, CLL"""								29	85					9.78306e-22	1.10677e-21	1	1	0
C18orf25	147339	broad.mit.edu	37	18	43796552	43796552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr18:43796552G>T	ENST00000282059.6	+	2	1080	c.706G>T	c.(706-708)Gag>Tag	p.E236*	C18orf25_ENST00000321319.6_Nonsense_Mutation_p.E236*	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	236										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						AATCACTGCAGAGATACCAGG	0.433000													9	17					0.000442599	0.000454781	1	1	0
MARCH11	441061	broad.mit.edu	37	5	16067594	16067594	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:16067594C>T	ENST00000332432.8	-	4	1394	c.1195G>A	c.(1195-1197)Gtg>Atg	p.V399M		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	399						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ACTGAAGTCACTCTCATCACA	0.443000													136	155					0	0	1	0	0
ZNF501	115560	broad.mit.edu	37	3	44776196	44776196	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:44776196C>T	ENST00000396048.2	+	3	720	c.283C>T	c.(283-285)Cag>Tag	p.Q95*		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		AATTCTTGTTCAGCATCTGAG	0.368000													22	92					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195717102	195717102	+	RNA	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:195717102A>G	ENST00000427841.1	-	0	48					NR_003264.2																						GCGCTTGGCAACCGCGACAGG	0.776000													3	8					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75052569	75052569	+	Missense_Mutation	SNP	G	G	A	rs143282840		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:75052569G>A	ENST00000261978.4	-	3	1204	c.818C>T	c.(817-819)tCg>tTg	p.S273L	LTBP2_ENST00000556690.1_Missense_Mutation_p.S273L|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	273					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGCTGGTGGCGACTGTGGTGC	0.647000													11	29					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169494533	169494533	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:169494533A>T	ENST00000256935.8	+	45	4567	c.4487A>T	c.(4486-4488)gAg>gTg	p.E1496V	DOCK2_ENST00000540750.1_Missense_Mutation_p.E557V|DOCK2_ENST00000520908.1_Missense_Mutation_p.E988V|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1496	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTCCTCTGGAGAATGCCATA	0.418000													20	41					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47884664	47884664	+	Silent	SNP	G	G	A	rs140257069		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:47884664G>A	ENST00000289672.2	-	33	5216	c.5166C>T	c.(5164-5166)ctC>ctT	p.L1722L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1722	GPS.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGAATGCCGCGAGGCGATGGT	0.463000													27	31					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	49					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr20:46279833G>A	ENST00000372004.3	+	20	3963	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q	NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547000													4	62					0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170688965	170688965	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:170688965G>A	ENST00000239461.6	+	2	653	c.340G>A	c.(340-342)Gag>Aag	p.E114K	PRRX1_ENST00000497230.2_Missense_Mutation_p.E114K|PRRX1_ENST00000367760.3_Missense_Mutation_p.E114K	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	114						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCGTGTCTTTGAGCGGACACA	0.522000													15	65					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	620354	620354	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:620354G>C	ENST00000358353.3	-	9	1144	c.822C>G	c.(820-822)atC>atG	p.I274M	CDHR5_ENST00000349570.7_Missense_Mutation_p.I274M|CDHR5_ENST00000397542.2_Missense_Mutation_p.I274M			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	274	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCTCAGCGTAGATGGGTCCGG	0.657000													9	57					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41819472	41819472	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr15:41819472G>A	ENST00000304330.4	-	13	1755	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	RPAP1_ENST00000561603.1_Missense_Mutation_p.R547W	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	547						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TAGCGCAGCCGAGGCAGCAGG	0.622000													20	32					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	427453	427453	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:427453C>A	ENST00000399788.2	-	19	3078	c.2716G>T	c.(2716-2718)Gaa>Taa	p.E906*	KDM5A_ENST00000382815.4_Nonsense_Mutation_p.E906*	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	906					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGTCTTACTTCGTCCAACCAC	0.488000			T	NUP98	AML								13	140					2.32078e-09	2.52357e-09	1	1	0
TULP4	56995	broad.mit.edu	37	6	158923390	158923390	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:158923390G>A	ENST00000367097.3	+	13	4052	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	899					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAACGTGGAGGAGGTGTGCCG	0.642000													47	72					0	0	1	0	0
KCTD7	154881	broad.mit.edu	37	7	66273984	66273984	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:66273984G>A	ENST00000380828.2	+	11	1463	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	RABGEF1_ENST00000450873.2_Missense_Mutation_p.E397K|KCTD7_ENST00000451741.2_Missense_Mutation_p.E397K|RABGEF1_ENST00000284957.5_Missense_Mutation_p.E397K|RABGEF1_ENST00000439720.2_Missense_Mutation_p.E410K|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Missense_Mutation_p.E411K|KCTD7_ENST00000510829.2_Missense_Mutation_p.E397K			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCAAGAAGCTGAGAGTTGGTC	0.453000													25	15					0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124620668	124620668	+	Silent	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:124620668G>T	ENST00000403470.1	-	3	424	c.369C>A	c.(367-369)gtC>gtA	p.V123V	VSIG2_ENST00000326621.5_Silent_p.V123V			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	123	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GTGGGTTGTTGACTTGGCAGA	0.552000													16	20					6.49762e-13	7.20528e-13	1	1	0
CEP170B	283638	broad.mit.edu	37	14	105349634	105349634	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:105349634G>C	ENST00000453495.1	+	8	1071	c.843G>C	c.(841-843)aaG>aaC	p.K281N	CEP170B_ENST00000556508.1_Missense_Mutation_p.K210N|CEP170B_ENST00000418279.1_Missense_Mutation_p.K210N|CEP170B_ENST00000414716.3_Missense_Mutation_p.K280N					centrosomal protein 170B																		GCCCTGGCAAGATGAAGATCA	0.637000													10	23					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61858917	61858917	+	Splice_Site	SNP	C	C	T	rs148693252	byFrequency	TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:61858917C>T	ENST00000577390.1	-	5	1788	c.834G>A	c.(832-834)caG>caA	p.Q278Q	CDH8_ENST00000299345.6_Splice_Site_p.Q278Q|CDH8_ENST00000577730.1_Splice_Site_p.Q278Q|CDH8_ENST00000584337.1_Splice_Site_p.Q278Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	278	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTAACTTACTCTGTGCAAATT	0.373000													15	23					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2973567	2973567	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:2973567C>T	ENST00000342628.2	-	8	1298	c.1185G>A	c.(1183-1185)gtG>gtA	p.V395V	FOXM1_ENST00000359843.3_Silent_p.V395V|FOXM1_ENST00000361953.3_Silent_p.V380V	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	395					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			ATGGCACCTTCACCGAGGGCT	0.592000													50	90					0	0	1	0	0
FOXE3	2301	broad.mit.edu	37	1	47882237	47882237	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:47882237C>G	ENST00000335071.2	+	1	494	c.250C>G	c.(250-252)Ctg>Gtg	p.L84V		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	84					cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		CGCCATGGCTCTGGCGCACGC	0.756000													9	22					0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54965196	54965196	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:54965196C>T	ENST00000394636.4	+	1	423	c.86C>T	c.(85-87)tCg>tTg	p.S29L	IRX5_ENST00000320990.5_Missense_Mutation_p.S29L|IRX5_ENST00000560154.1_Missense_Mutation_p.S29L			P78411	IRX5_HUMAN	iroquois homeobox 5	29					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						AGCGTCATTTCGGGGCCCCGC	0.682000													6	11					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61611651	61611651	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:61611651C>G	ENST00000583023.1	+	5	1091	c.1080C>G	c.(1078-1080)atC>atG	p.I360M	KCNH6_ENST00000456941.2_Missense_Mutation_p.I360M|KCNH6_ENST00000580652.1_Missense_Mutation_p.I360M|KCNH6_ENST00000581784.1_Missense_Mutation_p.I360M|KCNH6_ENST00000314672.5_Missense_Mutation_p.I360M	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	360					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ACCTCCTGATCTTCCGCACTG	0.632000													22	63					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39761747	39761747	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:39761747C>A	ENST00000395670.3	-	4	957	c.538G>T	c.(538-540)Gat>Tat	p.D180Y	KIF21A_ENST00000361961.3_Missense_Mutation_p.D180Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.D180Y|KIF21A_ENST00000541463.2_Missense_Mutation_p.D180Y|KIF21A_ENST00000361418.5_Missense_Mutation_p.D180Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	180	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCAGTTGAATCTTCATGAATT	0.308000													50	147					1.39843e-22	1.5982e-22	1	1	0
MTF2	22823	broad.mit.edu	37	1	93602319	93602319	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:93602319G>C	ENST00000370298.4	+	15	1806	c.1517G>C	c.(1516-1518)aGa>aCa	p.R506T	MTF2_ENST00000545708.1_Missense_Mutation_p.R404T|MTF2_ENST00000370303.4_Missense_Mutation_p.R449T|MTF2_ENST00000540243.1_Missense_Mutation_p.R404T|MTF2_ENST00000471953.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	506						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CTTCCAAGAAGAGCACTCCAG	0.403000													33	59					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119327641	119327641	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:119327641G>C	ENST00000273371.4	+	3	372	c.300G>C	c.(298-300)tgG>tgC	p.W100C	PLA1A_ENST00000495992.1_Missense_Mutation_p.W100C|PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000494440.1_Missense_Mutation_p.W84C	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	100					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGCCTTCCTGGATTGACACAT	0.423000													34	113					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981220	7981220	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:7981220C>G	ENST00000328600.2	-	2	2100	c.1939G>C	c.(1939-1941)Gag>Cag	p.E647Q		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	647							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTGTTTCCTCTGTCCCTCTG	0.383000													11	12					0	0	1	0	0
CHMP7	91782	broad.mit.edu	37	8	23112846	23112846	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:23112846C>T	ENST00000397677.1	+	4	1206	c.558C>T	c.(556-558)ctC>ctT	p.L186L	CHMP7_ENST00000313219.7_Silent_p.L186L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	186					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	p.L186L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TCAGCACCCTCTGTGCTAACT	0.582000													28	41					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81647291	81647291	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:81647291G>C	ENST00000548058.1	+	15	2747	c.1837G>C	c.(1837-1839)Gag>Cag	p.E613Q	ACSS3_ENST00000261206.3_Missense_Mutation_p.E612Q|ACSS3_ENST00000548324.1_Missense_Mutation_p.E295Q			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	613						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGCAACAGAGGAGCAAGTTTT	0.398000													62	17					0	0	1	0	0
EXOSC4	54512	broad.mit.edu	37	8	145134859	145134859	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:145134859G>T	ENST00000316052.5	+	2	288	c.185G>T	c.(184-186)cGg>cTg	p.R62L	EXOSC4_ENST00000525936.1_Missense_Mutation_p.R62L	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	62					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGGGCTCCCGGGCTCGAGCC	0.612000													34	123					4.67007e-22	5.31012e-22	1	1	0
EFCAB13	124989	broad.mit.edu	37	17	45452084	45452084	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:45452084G>A	ENST00000331493.2	+	12	1535	c.1124G>A	c.(1123-1125)aGc>aAc	p.S375N	EFCAB13_ENST00000517484.1_Missense_Mutation_p.S279N	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		GGGGTTGGCAGCAGTAATGTA	0.343000													3	66					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111685499	111685499	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:111685499G>C	ENST00000431670.2	+	14	3528	c.3117G>C	c.(3115-3117)gaG>gaC	p.E1039D	PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E1023D|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E996D|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E996D|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E1039D|PHLDB2_ENST00000495180.1_Missense_Mutation_p.E530D	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1039						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGAAATGGAGAGACTTTTGA	0.438000													47	40					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3265577	3265577	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:3265577C>T	ENST00000520002.1	-	15	2473	c.1918G>A	c.(1918-1920)Gcg>Acg	p.A640T	CSMD1_ENST00000537824.1_Missense_Mutation_p.A639T|CSMD1_ENST00000539096.1_Missense_Mutation_p.A639T|CSMD1_ENST00000602723.1_Missense_Mutation_p.A640T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A640T|CSMD1_ENST00000542608.1_Missense_Mutation_p.A639T|CSMD1_ENST00000602557.1_Missense_Mutation_p.A640T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	640	CUB 4.					integral to membrane		p.A639T(2)|p.A368T(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCTTGACCGCGAGAAAGTCA	0.453000													6	32					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169558008	169558008	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:169558008C>A	ENST00000316428.5	-	9	1478	c.1421G>T	c.(1420-1422)tGc>tTc	p.C474F	LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.C418F	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	474										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACGTTTTGGCAGAACATGGT	0.468000													12	73					4.3838e-07	4.67605e-07	1	1	0
RBM26	64062	broad.mit.edu	37	13	79945269	79945269	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr13:79945269G>A	ENST00000438737.2	-	5	885	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	RBM26_ENST00000438724.1_Missense_Mutation_p.R149C|RBM26_ENST00000267229.7_Missense_Mutation_p.R149C			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	149	Arg-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTGCGAGAACGATCATCTTTT	0.383000													27	23					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235907429	235907429	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:235907429C>G	ENST00000389794.3	-	30	8175	c.8001G>C	c.(7999-8001)ttG>ttC	p.L2667F	LYST_ENST00000389793.2_Missense_Mutation_p.L2667F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2667					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGGAGTTCTCAAAATGTCAA	0.294000													7	65					0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151141909	151141909	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:151141909G>T	ENST00000296550.7	+	6	1865	c.1111G>T	c.(1111-1113)Gac>Tac	p.D371Y	DCLK2_ENST00000506325.1_Missense_Mutation_p.D370Y|DCLK2_ENST00000302176.8_Missense_Mutation_p.D388Y	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	371					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACCTGAGCTTGACCGTTGCAT	0.413000													8	18					1.76689e-08	1.90281e-08	1	1	0
PRRX1	5396	broad.mit.edu	37	1	170688895	170688895	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:170688895G>T	ENST00000239461.6	+	2	583	c.270G>T	c.(268-270)aaG>aaT	p.K90N	PRRX1_ENST00000497230.2_Missense_Mutation_p.K90N|PRRX1_ENST00000367760.3_Missense_Mutation_p.K90N	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	90						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGAAAAAAAGAAGAGAAAGC	0.433000													7	22					5.18039e-06	5.44792e-06	1	1	0
C16orf71	146562	broad.mit.edu	37	16	4790239	4790239	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:4790239G>A	ENST00000299320.5	+	4	840	c.362G>A	c.(361-363)aGa>aAa	p.R121K	C16orf71_ENST00000590191.1_Missense_Mutation_p.R135K|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	121										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CAGGAAGGAAGAGACCCTGGC	0.572000													38	55					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148601417	148601417	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:148601417G>A	ENST00000296046.3	+	9	848	c.796G>A	c.(796-798)Gac>Aac	p.D266N	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	266					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TAACACCAATGACCCATGTGC	0.458000													4	69					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94368903	94368903	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:94368903C>G	ENST00000260731.3	+	5	604	c.514C>G	c.(514-516)Ctt>Gtt	p.L172V		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	172	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTTGATCTTCTTAATCCATC	0.333000													19	82					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128113141	128113141	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr9:128113141G>C	ENST00000470056.1	+	20	3638	c.3478G>C	c.(3478-3480)Gag>Cag	p.E1160Q	GAPVD1_ENST00000312123.9_Missense_Mutation_p.E1166Q|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E1205Q|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E1139Q|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E1187Q|GAPVD1_ENST00000495955.1_Missense_Mutation_p.E1205Q|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E1179Q|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E1214Q			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1205					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTCGATTGCTGAGGACTACAG	0.383000													4	82					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45132865	45132865	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr20:45132865G>C	ENST00000457685.2	-	5	1438	c.115C>G	c.(115-117)Cag>Gag	p.Q39E	ZNF334_ENST00000593880.1_Missense_Mutation_p.Q100E|ZNF334_ENST00000347606.4_Missense_Mutation_p.Q77E			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	77	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGGTAGTTCTGATTTGAGAAT	0.408000													16	25					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683101	100683101	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:100683101A>G	ENST00000306151.4	+	3	8468	c.8404A>G	c.(8404-8406)Acc>Gcc	p.T2802A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2802	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCATGCCAACCTCAACTCC	0.493000													109	388					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142567654	142567654	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:142567654G>C	ENST00000392957.2	+	17	3329	c.2542G>C	c.(2542-2544)Ggg>Cgg	p.G848R	EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Missense_Mutation_p.G571R|EPHB6_ENST00000442129.1_Missense_Mutation_p.G848R	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	848	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTGGAGCTTTGGGATACTCAT	0.522000													24	28					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089446	57089446	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:57089446C>T	ENST00000330619.8	+	6	2335	c.1649C>T	c.(1648-1650)gCa>gTa	p.A550V	ZNF470_ENST00000391709.3_Missense_Mutation_p.A550V|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGTCAGATTGCACACCTTGTT	0.448000													29	64					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141327104	141327104	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:141327104C>G	ENST00000325617.5	-	5	851	c.411G>C	c.(409-411)ttG>ttC	p.L137F	CLGN_ENST00000414773.1_Missense_Mutation_p.L137F|CLGN_ENST00000537281.1_Missense_Mutation_p.L137F	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	137					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ACTGAACTATCAAGGGTTTAT	0.333000													8	49					0	0	1	0	0
PSRC1	84722	broad.mit.edu	37	1	109824459	109824459	+	Missense_Mutation	SNP	C	C	T	rs144416204		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:109824459C>T	ENST00000438534.2	-	4	439	c.301G>A	c.(301-303)Gag>Aag	p.E101K	PSRC1_ENST00000409267.1_Missense_Mutation_p.E101K|PSRC1_ENST00000369909.2_Missense_Mutation_p.E101K|PSRC1_ENST00000369904.3_Missense_Mutation_p.E101K|PSRC1_ENST00000369907.3_Missense_Mutation_p.E101K|PSRC1_ENST00000369903.2_Missense_Mutation_p.E101K|PSRC1_ENST00000409138.2_Missense_Mutation_p.E101K	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	101					cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CCCAGGCCCTCGCCTGCGCTC	0.647000													19	23					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65367599	65367599	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:65367599T>C	ENST00000330909.8	-	17	2737	c.2738A>G	c.(2737-2739)aAg>aGg	p.K913R	MAGI1_ENST00000402939.2_Missense_Mutation_p.K885R|MAGI1_ENST00000483466.1_Missense_Mutation_p.K913R|MAGI1_ENST00000497477.2_Missense_Mutation_p.K885R	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	913					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTGGCCTTGCTTGGCAGCTTG	0.483000													27	33					0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48895739	48895739	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:48895739A>C	ENST00000315869.7	-	4	1022	c.763T>G	c.(763-765)Tcc>Gcc	p.S255A	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	255					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGAGCTGGACCCGATGGTG	0.587000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								9	19					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24720319	24720319	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:24720319C>G	ENST00000314328.9	+	6	2355	c.2070C>G	c.(2068-2070)atC>atG	p.I690M	SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.I690M|SPECC1L_ENST00000541492.1_Missense_Mutation_p.I690M|SPECC1L_ENST00000437398.1_Missense_Mutation_p.I690M	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	690					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AAGAAACCATCTTTGAACTTG	0.328000													18	28					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043115	56043115	+	Translation_Start_Site	SNP	A	A	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:56043115A>C	ENST00000313033.2	+	1	87	c.1A>C	c.(1-3)Atg>Ctg	p.M1L		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AATAGCTAAAATGTCAGGGTT	0.308000													8	324					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42222226	42222226	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:42222226G>A	ENST00000221992.6	+	6	1531	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R	CEACAM5_ENST00000398599.4_Missense_Mutation_p.G472R|CEACAM5_ENST00000405816.1_Missense_Mutation_p.G473R|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	473	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GAAGAACAGCGGACTCTATAC	0.502000													4	79					0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67209178	67209178	+	Silent	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:67209178A>G	ENST00000545016.1	-	4	565	c.480T>C	c.(478-480)gcT>gcC	p.A160A	CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000341356.5_Intron			Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	0					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GGGGGGGGGGAGCACAAAACG	0.652000													6	22					0	0	1	0	0
PPP2R2A	5520	broad.mit.edu	37	8	26227900	26227900	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:26227900C>T	ENST00000380737.3	+	10	1644	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L	PPP2R2A_ENST00000315985.7_Silent_p.L449L	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TACAAACAATCTGTATATATT	0.393000													29	50					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99798542	99798542	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:99798542G>T	ENST00000426455.1	+	19	2418	c.2011G>T	c.(2011-2013)Gta>Tta	p.V671L	GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.V671L|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.V613L|GATS_ENST00000436886.2_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	671					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCCAGCTAGTAGATTTGCT	0.592000													10	67					2.31682e-05	2.40263e-05	1	1	0
NRG3	10718	broad.mit.edu	37	10	84118578	84118578	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:84118578G>C	ENST00000372142.2	+	3	518	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	NRG3_ENST00000556918.1_Missense_Mutation_p.E133Q|NRG3_ENST00000404576.2_Missense_Mutation_p.E107Q|NRG3_ENST00000404547.1_Missense_Mutation_p.E303Q|NRG3_ENST00000372141.2_Missense_Mutation_p.E303Q	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	303					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.E82K(1)|p.E303K(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CAATGATGGCGAGTGCTTTGT	0.547000													24	59					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45861676	45861676	+	Silent	SNP	C	C	T	rs147981149		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr21:45861676C>T	ENST00000397928.1	+	32	4933	c.4488C>T	c.(4486-4488)gcC>gcT	p.A1496A	TRPM2_ENST00000300481.9_Silent_p.A1442A|TRPM2_ENST00000397932.2_Silent_p.A1546A|TRPM2_ENST00000300482.5_Silent_p.A1496A|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1496	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGAAGGCAGCCGCTGAGTTCG	0.642000													21	20					0	0	1	0	0
B3GNT6	192134	broad.mit.edu	37	11	76751660	76751660	+	Silent	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:76751660A>G	ENST00000533140.1	+	2	1203	c.1065A>G	c.(1063-1065)ctA>ctG	p.L355L	B3GNT6_ENST00000421061.1_Silent_p.L233L|B3GNT6_ENST00000354301.5_Silent_p.L354L			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	354					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						AGTTGCTGCTAGTGCACCGCT	0.682000													6	26					0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945902	72945902	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:72945902C>T	ENST00000311131.2	+	3	1165	c.698C>T	c.(697-699)tCg>tTg	p.S233L	P2RY2_ENST00000393596.2_Missense_Mutation_p.S233L|P2RY2_ENST00000393597.2_Missense_Mutation_p.S233L	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	233					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TACGGGACCTCGGGCGGCCTG	0.647000													61	56					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179458119	179458119	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:179458119G>A	ENST00000263966.3	+	11	1810	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.D382N	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	447					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CAGGCAGCAAGATGCCCAGGA	0.507000													21	80					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683849	71683849	+	Silent	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:71683849C>A	ENST00000393524.2	-	17	3448	c.2715G>T	c.(2713-2715)ccG>ccT	p.P905P	PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Silent_p.P972P|PHLPP2_ENST00000567016.1_Silent_p.P1007P|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000568954.1_Silent_p.P972P			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	972	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAATGGTCAGCGGAGTGGAAG	0.502000													3	92					1	1	1	1	0
FAM209B	388799	broad.mit.edu	37	20	55108402	55108402	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr20:55108402G>T	ENST00000371325.1	+	1	101	c.5G>T	c.(4-6)tGg>tTg	p.W2L		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	2						integral to membrane											CTCACCATGTGGACGCTGAAA	0.562000													47	99					2.19297e-23	2.5191e-23	1	1	0
FGFR2	2263	broad.mit.edu	37	10	123274680	123274680	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:123274680G>A	ENST00000358487.5	-	9	1510	c.1238C>T	c.(1237-1239)cCg>cTg	p.P413L	FGFR2_ENST00000478859.1_Missense_Mutation_p.P185L|FGFR2_ENST00000369061.4_Missense_Mutation_p.P301L|FGFR2_ENST00000356226.4_Missense_Mutation_p.P298L|FGFR2_ENST00000457416.2_Missense_Mutation_p.P414L|FGFR2_ENST00000369059.1_Missense_Mutation_p.P299L|FGFR2_ENST00000360144.3_Missense_Mutation_p.P325L|FGFR2_ENST00000346997.2_Missense_Mutation_p.P413L|FGFR2_ENST00000369056.1_Missense_Mutation_p.P414L|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000357555.5_Missense_Mutation_p.P324L|FGFR2_ENST00000351936.6_Missense_Mutation_p.P413L	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	413					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTGCACAGCCGGCTGGCTGCT	0.493000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				19	77					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103431095	103431095	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:103431095C>T	ENST00000358392.2	-	38	3217	c.2900G>A	c.(2899-2901)gGa>gAa	p.G967E	COL11A1_ENST00000370096.3_Splice_Site_p.G955E|COL11A1_ENST00000512756.1_Splice_Site_p.G839E|COL11A1_ENST00000353414.4_Splice_Site_p.G916E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	955	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCTTGAAATCCCTAAGGAGG	0.388000													53	72					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2928167	2928167	+	Silent	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:2928167G>C	ENST00000381130.2	+	2	189	c.189G>C	c.(187-189)ctG>ctC	p.L63L		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	63						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTGCCTTCCTGACCGGCCGGT	0.502000													3	19					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195717098	195717098	+	RNA	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:195717098G>A	ENST00000427841.1	-	0	52					NR_003264.2																						CCGAGCGCTTGGCAACCGCGA	0.781000													3	8					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64605962	64605962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:64605962C>T	ENST00000371079.1	+	6	1156	c.781C>T	c.(781-783)Caa>Taa	p.Q261*	RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Nonsense_Mutation_p.Q261*	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	261	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TGTCCTGTGTCAAACAGAGTA	0.498000													83	81					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69030877	69030877	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:69030877C>G	ENST00000288368.4	+	27	3696	c.3419C>G	c.(3418-3420)tCa>tGa	p.S1140*		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1140					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAAATGGACTCAGGTGTGTTC	0.418000													44	49					0	0	1	0	0
POGK	57645	broad.mit.edu	37	1	166818581	166818581	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:166818581G>A	ENST00000367875.1	+	5	1125	c.765G>A	c.(763-765)aaG>aaA	p.K255K	POGK_ENST00000537173.1_Silent_p.K137K|POGK_ENST00000367876.4_Silent_p.K255K|POGK_ENST00000536514.1_Silent_p.K170K			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	255	HTH CENPB-type.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GAGGCCCCAAGAATGGGAGGT	0.567000													29	21					0	0	1	0	0
TUBG2	27175	broad.mit.edu	37	17	40815491	40815491	+	Silent	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:40815491C>G	ENST00000251412.7	+	6	775	c.576C>G	c.(574-576)ctC>ctG	p.L192L		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	192					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TCCTGACACTCAAGAGGCTGA	0.527000													86	111					0	0	1	0	0
GNAO1	2775	broad.mit.edu	37	16	56368731	56368731	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:56368731C>G	ENST00000262494.7	+	5	815	c.555C>G	c.(553-555)atC>atG	p.I185M	GNAO1_ENST00000262493.6_Missense_Mutation_p.I185M	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	185					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CCACTGGCATCGTAGAAACCC	0.612000													16	27					0	0	1	0	0
NAP1L1	4673	broad.mit.edu	37	12	76449866	76449866	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:76449866C>T	ENST00000261182.8	-	7	991	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	NAP1L1_ENST00000552342.1_Missense_Mutation_p.E180K|NAP1L1_ENST00000549596.1_Missense_Mutation_p.E169K|NAP1L1_ENST00000535020.2_Missense_Mutation_p.E169K|NAP1L1_ENST00000393263.3_Missense_Mutation_p.E169K|NAP1L1_ENST00000547773.1_Missense_Mutation_p.E106K|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000431879.3_Missense_Mutation_p.E101K|NAP1L1_ENST00000547993.1_5'UTR|NAP1L1_ENST00000548044.1_Missense_Mutation_p.E128K|NAP1L1_ENST00000542344.1_Missense_Mutation_p.E127K	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	169					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				AACCAAAATTCAGGAATTCCT	0.328000													12	36					0	0	1	0	0
C3orf17	25871	broad.mit.edu	37	3	112724558	112724558	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:112724558C>G	ENST00000314400.5	-	9	1720	c.1529G>C	c.(1528-1530)gGa>gCa	p.G510A	C3orf17_ENST00000393857.2_Missense_Mutation_p.G374A|C3orf17_ENST00000383675.2_Missense_Mutation_p.G440A	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	510						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CATTGAAACTCCACTATTCAA	0.413000													19	75					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167365643	167365643	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:167365643G>C	ENST00000367862.5	+	10	1310	c.1075G>C	c.(1075-1077)Gag>Cag	p.E359Q	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.E307Q|POU2F1_ENST00000541643.3_Missense_Mutation_p.E347Q|POU2F1_ENST00000420254.3_Missense_Mutation_p.E347Q|POU2F1_ENST00000367866.2_Missense_Mutation_p.E370Q	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	347					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GCCACTTTTAGAGAAGTGGCT	0.368000													26	78					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43552710	43552710	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr15:43552710G>A	ENST00000220420.5	-	2	85	c.78C>T	c.(76-78)atC>atT	p.I26I	TGM5_ENST00000349114.4_Silent_p.I26I	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	26					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGTCCACAGTGATCTCCTCCG	0.577000													68	69					0	0	1	0	0
HERC2P2	400322	broad.mit.edu	37	15	23300033	23300033	+	RNA	SNP	T	T	C	rs1058831	by1000genomes	TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr15:23300033T>C	ENST00000560464.1	-	0	4254																											CGGGAACGGGTGACTGCTTGC	0.592000													5	26					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84495721	84495721	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:84495721A>G	ENST00000416219.2	+	27	2884	c.2795A>G	c.(2794-2796)aAc>aGc	p.N932S	ATP2C2_ENST00000262429.4_Missense_Mutation_p.N903S|ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	903					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CAGACGGAGAACCTGGGAGCG	0.657000													10	81					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	60					0.0215528	0.0218453	1	1	0
HIAT1	64645	broad.mit.edu	37	1	100534050	100534050	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:100534050G>C	ENST00000370152.3	+	7	863	c.727G>C	c.(727-729)Gat>Cat	p.D243H	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	243					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		AGTCGGCCAAGATTCCATAGT	0.383000													28	66					0	0	1	0	0
C11orf65	160140	broad.mit.edu	37	11	108264059	108264059	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:108264059G>C	ENST00000525729.1	-	5	529	c.460C>G	c.(460-462)Cta>Gta	p.L154V	C11orf65_ENST00000393084.1_Missense_Mutation_p.L203V|C11orf65_ENST00000526725.1_5'UTR|C11orf65_ENST00000529391.1_Missense_Mutation_p.L203V			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	203										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ATTAGTCCTAGAGTTTCATGA	0.413000													10	89					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178362475	178362475	+	Silent	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:178362475A>G	ENST00000264167.4	+	13	1490	c.1344A>G	c.(1342-1344)aaA>aaG	p.K448K	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	448					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			ACGGATTAAAAAAGTTTTATA	0.279000													8	5					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86305353	86305353	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:86305353G>T	ENST00000263857.6	-	10	1519	c.1141C>A	c.(1141-1143)Cag>Aag	p.Q381K	POLR1A_ENST00000409681.1_Missense_Mutation_p.Q381K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	381					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ATGAGGGACTGGCCTGGAAGT	0.408000													3	70					0.184627	0.186291	1	1	0
SPATA31D4	389761	broad.mit.edu	37	9	84547434	84547434	+	RNA	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr9:84547434G>A	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							TGCATGATCCGGAGACATCTT	0.488000													16	23					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38091654	38091654	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:38091654C>T	ENST00000261439.4	+	13	2507	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C	TBC1D1_ENST00000508802.1_Missense_Mutation_p.R812C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	718						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAGGACATCTCGTGAGCTCCG	0.488000													17	52					0	0	1	0	0
MANEAL	149175	broad.mit.edu	37	1	38265863	38265863	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:38265863G>T	ENST00000373045.6	+	4	1743	c.1362G>T	c.(1360-1362)caG>caT	p.Q454H	MANEAL_ENST00000525897.1_Missense_Mutation_p.Q260H|MANEAL_ENST00000329006.5_Missense_Mutation_p.Q232H|MANEAL_ENST00000397631.3_3'UTR|RP11-109P14.9_ENST00000433474.1_RNA	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	454						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGAAGGAGCAGTGGCTCATGT	0.587000													16	122					1.99824e-07	2.14165e-07	1	1	0
GABRA4	2557	broad.mit.edu	37	4	46979532	46979532	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:46979532G>A	ENST00000264318.3	-	4	1371	c.389C>T	c.(388-390)cCt>cTt	p.P130L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	130					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAAAGTATCAGGGGTCCACAC	0.348000													32	33					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284000													4	69					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166908238	166908238	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:166908238G>C	ENST00000423058.2	-	6	972	c.955C>G	c.(955-957)Caa>Gaa	p.Q319E	SCN1A_ENST00000409050.1_Missense_Mutation_p.Q319E|SCN1A_ENST00000375405.3_Missense_Mutation_p.Q319E|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.Q319E|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	319						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTTGAATCTTGAATATATGAC	0.303000													5	21					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204955232	204955232	+	Silent	SNP	C	C	T	rs111234773		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:204955232C>T	ENST00000367172.4	+	23	3109	c.2781C>T	c.(2779-2781)acC>acT	p.T927T	NFASC_ENST00000401399.1_Intron|NFASC_ENST00000367170.4_Silent_p.T927T|NFASC_ENST00000404907.1_Silent_p.T923T|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Silent_p.T912T|NFASC_ENST00000338515.6_Silent_p.T927T|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000404076.1_Silent_p.T906T|NFASC_ENST00000338586.6_Silent_p.T927T|NFASC_ENST00000360049.4_Silent_p.T923T|NFASC_ENST00000513543.1_Silent_p.T923T|NFASC_ENST00000539706.1_Silent_p.T923T			O94856	NFASC_HUMAN	neurofascin	927	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGTTCACCACCCCGGAAGGAG	0.602000													8	49					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34825934	34825934	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:34825934G>C	ENST00000192788.5	+	14	1972	c.1801G>C	c.(1801-1803)Gag>Cag	p.E601Q	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.E601Q	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	601										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGAGCGGGCAGAGTTGCATCG	0.473000													35	46					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													6	93					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6476930	6476930	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:6476930C>T	ENST00000381480.2	-	10	728	c.616G>A	c.(616-618)Ggg>Agg	p.G206R	DENND1C_ENST00000543576.1_Missense_Mutation_p.G162R	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	206	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCGAACAGCCCCACGATGTTC	0.672000													7	35					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62416037	62416037	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:62416037C>T	ENST00000330574.2	-	2	1567	c.1515G>A	c.(1513-1515)ctG>ctA	p.L505L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	505					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGACAGACAGCAGGCCCAAGA	0.562000													17	100					0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25810749	25810749	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:25810749G>A	ENST00000374343.4	+	7	1476	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	TMEM57_ENST00000399763.3_Missense_Mutation_p.E75K|TMEM57_ENST00000399766.3_Missense_Mutation_p.E206K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	433						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGAGAACGAGCTGCTGCA	0.572000													7	47					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70518710	70518710	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:70518710G>C	ENST00000381269.2	-	5	2781	c.2028C>G	c.(2026-2028)ttC>ttG	p.F676L	SLC8A3_ENST00000356921.2_Missense_Mutation_p.F670L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.F673L|SLC8A3_ENST00000533541.1_Missense_Mutation_p.F33L|SLC8A3_ENST00000216568.7_Missense_Mutation_p.F47L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.F674L|SLC8A3_ENST00000357887.3_Missense_Mutation_p.F674L|SLC8A3_ENST00000394330.2_Missense_Mutation_p.F33L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	676					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCCTGACCTTGAACTCATAGG	0.418000													12	23					0	0	1	0	0
CHUK	1147	broad.mit.edu	37	10	101967090	101967090	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:101967090C>T	ENST00000370397.7	-	11	1215		c.e11-1			NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase						I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CACAGCCTCTCTGAAAAAGAA	0.308000													4	35					0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6449968	6449968	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:6449968C>G	ENST00000297056.6	-	14	1782	c.1613G>C	c.(1612-1614)gGa>gCa	p.G538A	DAGLB_ENST00000428902.2_3'UTR|DAGLB_ENST00000425398.2_Missense_Mutation_p.G409A|DAGLB_ENST00000436575.1_Missense_Mutation_p.G497A	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	538					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GTTGGGGTTTCCTCCAAACAG	0.592000													36	56					0	0	1	0	0
KCTD7	154881	broad.mit.edu	37	7	66274059	66274059	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:66274059G>C	ENST00000380828.2	+	11	1538	c.1384G>C	c.(1384-1386)Gaa>Caa	p.E462Q	RABGEF1_ENST00000450873.2_Missense_Mutation_p.E422Q|KCTD7_ENST00000451741.2_Missense_Mutation_p.E422Q|RABGEF1_ENST00000284957.5_Missense_Mutation_p.E422Q|RABGEF1_ENST00000439720.2_Missense_Mutation_p.E435Q|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Missense_Mutation_p.E436Q|KCTD7_ENST00000510829.2_Missense_Mutation_p.E422Q			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TCAGTTGAATGAACGACAAGA	0.428000													18	32					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219549924	219549924	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:219549924G>C	ENST00000295709.3	+	11	1632	c.1353G>C	c.(1351-1353)caG>caC	p.Q451H	STK36_ENST00000392106.2_Missense_Mutation_p.Q451H|STK36_ENST00000392105.3_Missense_Mutation_p.Q451H|STK36_ENST00000440309.1_Missense_Mutation_p.Q451H	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	451					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGCGCATCCAGAGTCAGCTGC	0.507000													17	42					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146824287	146824287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:146824287C>A	ENST00000508784.1	-	2	351	c.124G>T	c.(124-126)Gaa>Taa	p.E42*	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.E42*			Q17R98	ZN827_HUMAN	zinc finger protein 827	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TAGGATGCTTCTGACGGAGTC	0.532000													11	93					1.3612e-06	1.44507e-06	1	1	0
TCTEX1D4	343521	broad.mit.edu	37	1	45271785	45271785	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:45271785C>T	ENST00000372200.1	-	2	1064	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	TCTEX1D4_ENST00000339355.2_Missense_Mutation_p.V186M	NM_001013632.2	NP_001013654.1	Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	186										pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					CGGCTGACCACGTGAACGCCC	0.701000													5	26					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42702003	42702003	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr15:42702003G>A	ENST00000397163.3	+	18	2230	c.2011G>A	c.(2011-2013)Gat>Aat	p.D671N	CAPN3_ENST00000318023.7_Missense_Mutation_p.D665N|CAPN3_ENST00000356316.3_Missense_Mutation_p.D578N|CAPN3_ENST00000397200.4_Missense_Mutation_p.D159N|CAPN3_ENST00000397204.4_Missense_Mutation_p.D6N|CAPN3_ENST00000349748.3_Missense_Mutation_p.D579N|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.D665N|CAPN3_ENST00000569136.1_Missense_Mutation_p.D6N|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000337571.4_Missense_Mutation_p.D6N|CAPN3_ENST00000561817.1_Missense_Mutation_p.D6N	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	671	Domain IV.|EF-hand 1.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GATCTGTGCAGATGAGCTCAA	0.537000													118	129					0	0	1	0	0
DNAJB11	51726	broad.mit.edu	37	3	186289895	186289895	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:186289895A>G	ENST00000439351.1	+	3	1009	c.80A>G	c.(79-81)tAt>tGt	p.Y27C	DNAJB11_ENST00000265028.3_Missense_Mutation_p.Y27C			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	27	J.				protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CGAGATTTCTATAAGATCTTG	0.393000													29	22					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115596920	115596920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:115596920G>A	ENST00000361384.2	-	8	3780	c.2863C>T	c.(2863-2865)Cag>Tag	p.Q955*	DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.Q955*	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	955					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GCCAAAATCTGATTGTATTTC	0.368000								Other identified genes with known or suspected DNA repair function					37	74					0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113499971	113499971	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:113499971G>C	ENST00000273398.3	+	3	265	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.E20Q	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	53					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTGGTTGGAGAGATTATTCG	0.433000													62	60					0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736568	24736568	+	RNA	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:24736568A>G	ENST00000483544.1	-	0	534					NR_029451.2																						AAGGAAAAAAAGGGGGCCCAG	0.547000													3	57					0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43831096	43831096	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:43831096G>T	ENST00000417669.2	+	3	811	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W	MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000443721.1_Missense_Mutation_p.G123W|MPPED1_ENST00000542779.1_Missense_Mutation_p.G123W|MPPED1_ENST00000414469.2_Missense_Mutation_p.G17W|MPPED1_ENST00000538182.1_Missense_Mutation_p.G156W			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CACTGAGCTGGGGCTCCCGAG	0.667000													17	35					3.52763e-06	3.72731e-06	1	1	0
STAG2	10735	broad.mit.edu	37	X	123200110	123200110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:123200110C>T	ENST00000371160.1	+	22	2472	c.2182C>T	c.(2182-2184)Cag>Tag	p.Q728*	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q728*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q728*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q728*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q728*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q659*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	728					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CATGCCTGAGCAGGTTTTTAT	0.303000													60	17					0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1579452	1579452	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:1579452G>C	ENST00000397374.3	-	5	714	c.587C>G	c.(586-588)tCc>tGc	p.S196C	DUSP8_ENST00000331588.4_Missense_Mutation_p.S196C|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	196	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CTTGGGGCAGGAGTTGCTGGC	0.592000													18	20					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826515	34826515	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:34826515G>A	ENST00000192788.5	+	14	2553	c.2382G>A	c.(2380-2382)ctG>ctA	p.L794L	UHRF1BP1_ENST00000452449.2_Silent_p.L794L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	794										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGGAAATTCTGAAAGAAGGCA	0.493000													77	79					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56651579	56651579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:56651579C>A	ENST00000389934.3	-	23	3589	c.3472G>T	c.(3472-3474)Gag>Tag	p.E1158*	TEX14_ENST00000349033.5_Nonsense_Mutation_p.E1118*|TEX14_ENST00000240361.8_Nonsense_Mutation_p.E1164*	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1164						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTGGTGACTCCTTTGATGTC	0.368000													25	62					1.13719e-10	1.24868e-10	1	1	0
INPP5B	3633	broad.mit.edu	37	1	38332195	38332195	+	Silent	SNP	T	T	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:38332195T>A	ENST00000373023.2	-	21	2655	c.2562A>T	c.(2560-2562)ccA>ccT	p.P854P	INPP5B_ENST00000373027.1_Silent_p.P610P|INPP5B_ENST00000373026.1_Silent_p.P854P|INPP5B_ENST00000373024.3_Silent_p.P774P	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	854	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACCTCAGGCCTGGTTGCTGAA	0.398000													16	118					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122758620	122758620	+	Silent	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:122758620C>G	ENST00000358808.2	-	24	4177	c.4023G>C	c.(4021-4023)ctG>ctC	p.L1341L	CLIP1_ENST00000545889.1_Silent_p.L927L|CLIP1_ENST00000537178.1_Silent_p.L1306L|CLIP1_ENST00000540539.1_Silent_p.L31L|CLIP1_ENST00000361654.4_Silent_p.L1230L|CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000540338.1_Silent_p.L1352L|CLIP1_ENST00000302528.7_Silent_p.L1341L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1352					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CGTTCCCATTCAGGGCTGCTT	0.433000													119	139					0	0	1	0	0
MRPL21	219927	broad.mit.edu	37	11	68660897	68660897	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:68660897G>T	ENST00000567045.1	-	5	403	c.168C>A	c.(166-168)ttC>ttA	p.F56L	MRPL21_ENST00000362034.2_Missense_Mutation_p.F141L|MRPL21_ENST00000450904.2_Missense_Mutation_p.F56L			Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	141					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAAGCAGCGTGAAGTTGTCTG	0.507000													49	50					2.43139e-17	2.72316e-17	1	1	0
ZNF432	9668	broad.mit.edu	37	19	52537344	52537344	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:52537344C>T	ENST00000594154.1	-	5	1800	c.1588G>A	c.(1588-1590)Gta>Ata	p.V530I	ZNF432_ENST00000221315.5_Missense_Mutation_p.V530I			O94892	ZN432_HUMAN	zinc finger protein 432	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGCTGGTGTACAACAAGATTG	0.413000													44	108					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90028786	90028786	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:90028786G>C	ENST00000428670.3	-	4	1105	c.649C>G	c.(649-651)Caa>Gaa	p.Q217E	ATP2B1_ENST00000261173.2_Missense_Mutation_p.Q217E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.Q217E|ATP2B1_ENST00000348959.3_Missense_Mutation_p.Q217E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	217					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TATTTCACTTGAGCAATATCT	0.348000													61	27					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783434	54783434	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:54783434G>T	ENST00000391748.1	-	5	551	c.424C>A	c.(424-426)Ctc>Atc	p.L142I	LILRB2_ENST00000314446.5_Missense_Mutation_p.L142I|LILRB2_ENST00000434421.1_Missense_Mutation_p.L26I|LILRB2_ENST00000391746.1_Missense_Mutation_p.L142I|LILRB2_ENST00000391749.4_Missense_Mutation_p.L142I	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	142	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L142V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACACTGGAGGGTCACCCTT	0.582000													22	146					4.26978e-12	4.71148e-12	1	1	0
TCL6	27004	broad.mit.edu	37	14	96135808	96135808	+	RNA	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:96135808C>T	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		cctcgtgatccgcctacctcg	0.498000			T	TRA@	T-ALL								7	13					0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118949563	118949563	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:118949563G>A	ENST00000300793.6	+	14	2161	c.2119G>A	c.(2119-2121)Gtg>Atg	p.V707M	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	708					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GGTCATCAGCGTGTGTGAGCG	0.622000													15	9					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73471787	73471787	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:73471787G>A	ENST00000358929.4	+	22	1524	c.1433G>A	c.(1432-1434)gGa>gAa	p.G478E	ELN_ENST00000252034.7_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000357036.5_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000320399.6_Intron|ELN_ENST00000445912.1_Intron|ELN_ENST00000429192.1_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000380553.4_Intron|ELN_ENST00000414324.1_Intron	NM_001278939.1	NP_001265868.1	P15502	ELN_HUMAN	elastin	478	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCGGGCACGGGAGGAGTGCCA	0.617000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						10	16					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33144976	33144976	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:33144976G>A	ENST00000341947.2	-	24	2225	c.1998C>T	c.(1996-1998)atC>atT	p.I666I	COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374713.1_Silent_p.I619I|COL11A2_ENST00000395197.1_Silent_p.I606I|COL11A2_ENST00000357486.1_Silent_p.I645I|COL11A2_ENST00000374714.1_Silent_p.I640I|COL11A2_ENST00000374712.1_Silent_p.I585I|COL11A2_ENST00000361917.1_Silent_p.I559I|COL11A2_ENST00000374708.4_Silent_p.I580I	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	666	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.I666I(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CATGAGGGCCGATGGCACCCT	0.547000													30	33					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16466508	16466508	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:16466508C>T	ENST00000395824.1	-	5	1284	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	ZNF287_ENST00000395825.3_Missense_Mutation_p.E223K			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	216	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CATGGTTCTTCCAATATGGGA	0.358000													30	15					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39918553	39918553	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:39918553G>A	ENST00000337304.2	+	2	1884	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	ATF4_ENST00000396680.1_Silent_p.L334L|ATF4_ENST00000404241.2_Silent_p.L334L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	334	Interaction with GABBR1 (By similarity).|Leucine-zipper.				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					TCCAGTACCTGAAAGATTTGA	0.512000													3	17					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136341379	136341379	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr9:136341379G>A	ENST00000371899.4	-	4	619	c.542C>T	c.(541-543)tCc>tTc	p.S181F	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.S181F	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	181						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GAGGGACAGGGATCCGAACAC	0.647000													4	44					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981650	7981650	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:7981650C>G	ENST00000328600.2	-	2	1670	c.1509G>C	c.(1507-1509)gaG>gaC	p.E503D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	503							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCCTTCCTGCTCCTTTACCT	0.488000													34	25					0	0	1	0	0
MIEN1	84299	broad.mit.edu	37	17	37886006	37886006	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:37886006C>T	ENST00000394231.3	-	3	487	c.196G>A	c.(196-198)Gag>Aag	p.E66K	MIEN1_ENST00000577810.1_Missense_Mutation_p.E66K|MIEN1_ENST00000474210.1_5'UTR|ERBB2_ENST00000584888.1_Intron			Q9BRT3	CQ037_HUMAN	migration and invasion enhancer 1	66					cell redox homeostasis	cytosol|membrane	selenium binding										ATCTCTATCTCAAAGGCACCT	0.488000													49	88					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64457725	64457725	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:64457725C>G	ENST00000358025.3	+	21	2768	c.2538C>G	c.(2536-2538)atC>atG	p.I846M	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.I846M|SYNE2_ENST00000554584.1_Missense_Mutation_p.I846M	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	846					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)		ATTTGGACATCAGGCTGAAGA	0.423000													6	70					0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233409214	233409214	+	Silent	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:233409214C>G	ENST00000389494.3	+	10	1194	c.1173C>G	c.(1171-1173)ctC>ctG	p.L391L	CHRNG_ENST00000389492.3_Silent_p.L339L	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	391					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	p.L391L(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		AGGTGGCCCTCTGCCTGCCTC	0.662000													55	23					0	0	1	0	0
PREPL	9581	broad.mit.edu	37	2	44548554	44548554	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:44548554C>G	ENST00000541738.1	-	14	2244	c.1858G>C	c.(1858-1860)Gaa>Caa	p.E620Q	PREPL_ENST00000409272.1_Missense_Mutation_p.E709Q|PREPL_ENST00000260648.6_Missense_Mutation_p.E709Q|PREPL_ENST00000409936.1_Missense_Mutation_p.E709Q|PREPL_ENST00000378520.3_Missense_Mutation_p.E643Q|PREPL_ENST00000378511.3_Missense_Mutation_p.E647Q|PREPL_ENST00000410081.1_Missense_Mutation_p.E709Q|PREPL_ENST00000409411.1_Missense_Mutation_p.E620Q|PREPL_ENST00000409957.1_Missense_Mutation_p.E620Q|SLC3A1_ENST00000260649.6_3'UTR	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	709					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGTCCAAGTTCCTCGTACAGG	0.348000													24	12					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78225191	78225191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:78225191G>T	ENST00000361193.3	+	17	2000	c.1720G>T	c.(1720-1722)Gaa>Taa	p.E574*	SLC26A11_ENST00000546047.2_Nonsense_Mutation_p.E574*|SLC26A11_ENST00000411502.3_Nonsense_Mutation_p.E574*|SLC26A11_ENST00000572725.1_Nonsense_Mutation_p.E574*	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	574	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)			CTCTACCCTGGAAGAAGCAGG	0.498000													25	83					1.12875e-08	1.22145e-08	1	1	0
NCAM2	4685	broad.mit.edu	37	21	22881192	22881192	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr21:22881192G>T	ENST00000400546.1	+	16	2347	c.2098G>T	c.(2098-2100)Ggg>Tgg	p.G700W	NCAM2_ENST00000284894.7_Missense_Mutation_p.G558W	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	700					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TAATGGTCTTGGGCTTGGAGC	0.338000													8	23					0.335167	0.33667	1	1	0
NOL12	79159	broad.mit.edu	37	22	38084997	38084997	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:38084997G>A	ENST00000359114.4	+	4	449	c.379G>A	c.(379-381)Gag>Aag	p.E127K	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	127						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					GACCCCACCTGAGGTGGGTCC	0.657000													27	72					0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118814608	118814608	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:118814608C>G	ENST00000504811.1	+	9	773	c.589C>G	c.(589-591)Ctg>Gtg	p.L197V	HSD17B4_ENST00000414835.2_Missense_Mutation_p.L32V|HSD17B4_ENST00000513628.1_Missense_Mutation_p.L35V|HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000510025.1_Missense_Mutation_p.L148V|HSD17B4_ENST00000256216.6_Missense_Mutation_p.L172V|HSD17B4_ENST00000515320.1_Missense_Mutation_p.L154V	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	172	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GTTGGGTCTTCTGGGCCTTGC	0.408000													38	71					0	0	1	0	0
NAA35	60560	broad.mit.edu	37	9	88611429	88611429	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr9:88611429A>T	ENST00000361671.5	+	12	1126	c.993A>T	c.(991-993)agA>agT	p.R331S		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	331					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						ATTTTGCAAGATTAATAGATA	0.353000													40	19					0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17941319	17941319	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:17941319G>A	ENST00000381254.2	+	2	323	c.109G>A	c.(109-111)Gag>Aag	p.E37K	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.E37K	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	37	N-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGGGTGTGTGAGGCACAGAC	0.433000								Homologous recombination					11	85					0	0	1	0	0
C1orf43	25912	broad.mit.edu	37	1	154180113	154180113	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:154180113C>T	ENST00000368521.5	-	7	776	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	C1orf43_ENST00000350592.3_Missense_Mutation_p.R159Q|C1orf43_ENST00000368519.1_Missense_Mutation_p.R175Q|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000362076.4_Missense_Mutation_p.R141Q	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	193						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GCTCCCAATTCGTGCTTTAAC	0.507000													20	64					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53911005	53911005	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:53911005G>C	ENST00000396408.3	+	4	314	c.197G>C	c.(196-198)aGa>aCa	p.R66T	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CAAGGCAATAGAGAAGTGTTC	0.358000													38	57					0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15283750	15283750	+	Silent	SNP	T	T	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:15283750T>G	ENST00000253693.2	+	16	2107	c.1854T>G	c.(1852-1854)gtT>gtG	p.V618V		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	618	Domain III.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						GGAAAAAAGTTTATTACCCAG	0.279000													8	48					0	0	1	0	0
ZNF655	79027	broad.mit.edu	37	7	99170613	99170613	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:99170613G>C	ENST00000424881.1	+	4	1207	c.987G>C	c.(985-987)aaG>aaC	p.K329N	GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000252713.4_Missense_Mutation_p.K294N|ZNF655_ENST00000493277.1_Missense_Mutation_p.K329N|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.K294N|ZNF655_ENST00000425063.1_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	294					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TTCAGCATAAGAAAATTCACA	0.383000													30	66					0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	938746	938746	+	Silent	SNP	C	C	T	rs146090079		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:938746C>T	ENST00000265846.5	-	10	1239	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	ADAP1_ENST00000449296.2_Silent_p.T268T|ADAP1_ENST00000539900.1_Silent_p.T351T	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	340	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GGTCGGACTCCGTCTCGCAGG	0.697000													39	63					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52569778	52569778	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:52569778C>T	ENST00000374001.2	-	11	1624	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	A1CF_ENST00000373997.3_Silent_p.L495L|A1CF_ENST00000373993.1_Silent_p.L503L|A1CF_ENST00000373995.3_Silent_p.L503L|A1CF_ENST00000395489.2_Silent_p.L496L|A1CF_ENST00000395495.1_Silent_p.L448L|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_Silent_p.L503L			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CAAAGGCACTCAGCTTTGGAG	0.512000													20	43					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44573141	44573141	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:44573141C>T	ENST00000289547.4	-	8	2353	c.2298G>A	c.(2296-2298)atG>atA	p.M766I	NPC1L1_ENST00000423141.1_3'UTR|NPC1L1_ENST00000381160.3_Missense_Mutation_p.M766I|NPC1L1_ENST00000546276.1_Missense_Mutation_p.M766I	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	766	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCACAGCTGGCATGGGGGTCA	0.632000													8	90					0	0	1	0	0
VSIG4	11326	broad.mit.edu	37	X	65253367	65253367	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:65253367C>G	ENST00000455586.2	-	2	487	c.361G>C	c.(361-363)Gat>Cat	p.D121H	VSIG4_ENST00000374737.4_Missense_Mutation_p.D121H|VSIG4_ENST00000412866.2_Missense_Mutation_p.D121H	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	121	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTTGCCATCAGGAGTCTGC	0.498000													13	115					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50102618	50102618	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:50102618G>A	ENST00000418929.2	+	5	3780	c.3768G>A	c.(3766-3768)tcG>tcA	p.S1256S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	435							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCCTGGACTCGAGCCTGACTC	0.567000													6	34					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372924	24372924	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:24372924C>T	ENST00000005284.3	+	4	1890	c.688C>T	c.(688-690)Cga>Tga	p.R230*		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	230					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTACAGGTATCGATTCCGGAG	0.537000													15	41					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90398348	90398348	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:90398348A>G	ENST00000369393.3	-	66	11318	c.11203T>C	c.(11203-11205)Tca>Cca	p.S3735P	MDN1_ENST00000428876.1_Missense_Mutation_p.S3735P			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3735					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)		ACAGCCTCTGAGAAACCTTGA	0.537000													8	16					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11308619	11308619	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:11308619G>A	ENST00000379261.4	+	6	668	c.576G>A	c.(574-576)atG>atA	p.M192I	CELF2_ENST00000427450.1_Missense_Mutation_p.M168I|CELF2_ENST00000542579.1_Missense_Mutation_p.M199I|CELF2_ENST00000608830.1_Missense_Mutation_p.M168I|CELF2_ENST00000354440.2_Missense_Mutation_p.M168I|CELF2_ENST00000354897.3_Missense_Mutation_p.M168I|CELF2_ENST00000416382.2_Missense_Mutation_p.M192I|CELF2_ENST00000417956.2_Missense_Mutation_p.M168I|CELF2_ENST00000315874.4_Missense_Mutation_p.M168I|CELF2_ENST00000450189.1_Missense_Mutation_p.M199I|CELF2_ENST00000609692.1_Missense_Mutation_p.M168I|CELF2_ENST00000537122.1_Missense_Mutation_p.M81I|CELF2_ENST00000399850.3_Missense_Mutation_p.M168I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	192	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TCAAAGCCATGCATCAGTCTC	0.453000													5	34					0	0	1	0	0
SOCS4	122809	broad.mit.edu	37	14	55509991	55509991	+	Silent	SNP	T	T	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:55509991T>C	ENST00000395472.2	+	2	564	c.232T>C	c.(232-234)Tta>Cta	p.L78L	SOCS4_ENST00000339298.2_Silent_p.L78L|SOCS4_ENST00000555846.1_Silent_p.L78L	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	78					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TGAGTTGGACTTAGATCATTC	0.423000													55	74					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44949073	44949073	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:44949073C>T	ENST00000377967.4	+	25	3675	c.3634C>T	c.(3634-3636)Cag>Tag	p.Q1212*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q1167*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q1133*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q1219*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1212	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAGGTTTATTCAGCGACCTGG	0.398000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								32	6					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54321194	54321194	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:54321194T>G	ENST00000354646.2	-	8	1923	c.1485A>C	c.(1483-1485)agA>agC	p.R495S	WNK3_ENST00000375169.3_Missense_Mutation_p.R495S|WNK3_ENST00000375159.2_Missense_Mutation_p.R495S	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	495					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GCTTCTTCTCTCTTGTCTTCT	0.458000													8	24					0	0	1	0	0
TMEM44	93109	broad.mit.edu	37	3	194309273	194309273	+	Silent	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:194309273C>G	ENST00000392432.2	-	11	1618	c.1413G>C	c.(1411-1413)ctG>ctC	p.L471L	TMEM44_ENST00000476750.1_5'UTR|TMEM44_ENST00000273580.7_Silent_p.L435L|TMEM44-AS1_ENST00000447982.1_RNA|TMEM44-AS1_ENST00000419571.1_RNA|TMEM44_ENST00000347147.4_Silent_p.L424L|TMEM44-AS1_ENST00000453671.1_RNA|TMEM44_ENST00000473092.1_Silent_p.L434L|TMEM44_ENST00000381975.3_3'UTR	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	471						integral to membrane		p.L435L(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CATCATCACTCAGGTGTGCTG	0.532000													40	38					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53420246	53420246	+	Missense_Mutation	SNP	G	G	A	rs147568115	by1000genomes	TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr13:53420246G>A	ENST00000377942.3	-	1	2529	c.2326C>T	c.(2326-2328)Cgc>Tgc	p.R776C	PCDH8_ENST00000338862.4_Missense_Mutation_p.R776C	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	776					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTCTTGCGGCGGTTGCAGGTG	0.736000													6	44					0	0	1	0	0
FBXO22	26263	broad.mit.edu	37	15	76206519	76206519	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr15:76206519C>G	ENST00000308275.3	+	4	541	c.436C>G	c.(436-438)Ctt>Gtt	p.L146V	FBXO22_ENST00000540507.1_Missense_Mutation_p.L42V|FBXO22_ENST00000453211.2_Missense_Mutation_p.L146V	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	146					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	p.L146F(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATGCCAAGTCCTTGGGATTGT	0.383000													18	43					0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28935803	28935803	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:28935803C>G	ENST00000358201.4	-	2	783	c.195G>C	c.(193-195)gaG>gaC	p.E65D	RABEP2_ENST00000544477.1_Intron|RABEP2_ENST00000357573.6_Missense_Mutation_p.E65D|RABEP2_ENST00000561803.1_5'UTR	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	65					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTTCGTGCTCTCGCTCACCT	0.647000													4	88					0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163131761	163131761	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:163131761G>C	ENST00000313961.5	-	3	438	c.161C>G	c.(160-162)tCg>tGg	p.S54W	RGS5_ENST00000530507.1_Missense_Mutation_p.S54W|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000367903.3_Missense_Mutation_p.S74W|RP11-267N12.1_ENST00000415437.1_RNA	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	54					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CTCGTCCAGCGAGGTTCTACA	0.428000													6	48					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826146	34826146	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:34826146G>A	ENST00000192788.5	+	14	2184	c.2013G>A	c.(2011-2013)caG>caA	p.Q671Q	UHRF1BP1_ENST00000452449.2_Silent_p.Q671Q	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	671										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ATGCCTTTCAGATGGATTCCT	0.488000													41	70					0	0	1	0	0
PRRC1	133619	broad.mit.edu	37	5	126883526	126883529	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:126883526_126883529delTTGT	ENST00000442138.2	+	8	1187_1190	c.1041_1044delTTGT	c.(1039-1044)ggttgtfs	p.GC347fs	PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000296666.8_Frame_Shift_Del_p.GC347fs|PRRC1_ENST00000512635.2_Frame_Shift_Del_p.GC347fs			Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	347						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		TTGACATTGGTTGTTTGGTGGTTG	0.358													36	62	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42204105	42204106	+	In_Frame_Ins	INS	-	-	TCC	rs146190272	by1000genomes	TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:42204105_42204106insTCC	ENST00000541110.1	-	16	3531_3532	c.2963_2964insGGA	c.(2962-2964)gac>gaGGAc	p.987_988insE	TRERF1_ENST00000372917.4_In_Frame_Ins_p.884_885insE|TRERF1_ENST00000354325.2_In_Frame_Ins_p.884_885insE|TRERF1_ENST00000340840.2_In_Frame_Ins_p.884_885insE|TRERF1_ENST00000372922.4_In_Frame_Ins_p.967_968insE			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	967	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTTCCGGGtcctcctcctc	0.530													3	5	---	---	---	---					
PTPRK	5796	broad.mit.edu	37	6	128540172	128540173	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:128540172_128540173delAG	ENST00000368227.3	-	6	1128_1129	c.762_763delCT	c.(760-765)tccttcfs	p.F255fs	PTPRK_ENST00000532331.1_Frame_Shift_Del_p.F255fs|PTPRK_ENST00000368207.3_Frame_Shift_Del_p.F255fs|PTPRK_ENST00000368215.3_Frame_Shift_Del_p.F255fs|PTPRK_ENST00000368210.3_Frame_Shift_Del_p.F255fs|PTPRK_ENST00000368226.4_Frame_Shift_Del_p.F255fs|PTPRK_ENST00000368213.5_Frame_Shift_Del_p.F255fs|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	255	Ig-like C2-type.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGCAATCTGAAGGAAGCGGCAA	0.411													15	107	---	---	---	---					
ARID1B	57492	broad.mit.edu	37	6	157099403	157099405	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:157099403_157099405delCAG	ENST00000346085.5	+	1	341_343	c.340_342delCAG	c.(340-342)cagdel	p.Q131del	ARID1B_ENST00000275248.4_In_Frame_Del_p.Q73del|ARID1B_ENST00000367148.1_In_Frame_Del_p.Q131del|ARID1B_ENST00000350026.5_In_Frame_Del_p.Q131del	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	131	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AAACCAGTTCcagcagcagcagc	0.640													2	4	---	---	---	---					
PGM5P2	595135	broad.mit.edu	37	9	69084873	69084874	+	RNA	DEL	AT	AT	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr9:69084873_69084874delAT	ENST00000412376.1	-	0	601				PGM5P2_ENST00000591037.1_RNA																							GCTATGGAAAATATCTTAGTAT	0.337													3	3	---	---	---	---					
PIDD	55367	broad.mit.edu	37	11	802398	802401	+	Splice_Site	DEL	TGAG	TGAG	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:802398_802401delTGAG	ENST00000347755.5	-	6	1116		c.e6-2		PIDD_ENST00000411829.2_Splice_Site	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein						apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										ACAGGAAAGCTGAGTGAGGAAGGA	0.632													14	46	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58								p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													3	3	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49415856	49415858	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:49415856_49415858delGAT	ENST00000301067.7	-	53	16488_16490	c.16489_16491delATC	c.(16489-16491)atcdel	p.I5497del		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCCGGCTGGAGATGATGATGATT	0.527													177	79	---	---	---	---					
AFG3L1P	172	broad.mit.edu	37	16	90053806	90053806	+	RNA	DEL	G	G	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:90053806delG	ENST00000437774.1	+	0	731					NR_003226.1																						aggtggaggaggtggaggagg	0.642													3	4	---	---	---	---					
RP11-527L4.5	0	broad.mit.edu	37	17	41996740	41996740	+	RNA	DEL	C	C	-	rs10707241		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:41996740delC	ENST00000585329.1	-	0	288																											ggcgtgcaggcctctggtgat	0.552													13	12	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20243404	20243405	+	RNA	DEL	AC	AC	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:20243404_20243405delAC	ENST00000590606.1	-	0	188				CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA																							TCCCTGGAAAACACACACACAC	0.411													9	150	---	---	---	---					
LINC01310	100128946	broad.mit.edu	37	22	49292347	49292347	+	RNA	DEL	G	G	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:49292347delG	ENST00000380981.2	+	0	1837					NR_038944.1																						ggcagagcgagggggaatggg	0.627													2	4	---	---	---	---					
MOV10L1	54456	broad.mit.edu	37	22	50553619	50553620	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:50553619_50553620insG	ENST00000262794.5	+	8	1286_1287	c.1203_1204insG	c.(1204-1206)gggfs	p.G402fs	MOV10L1_ENST00000540615.1_Frame_Shift_Ins_p.G382fs|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Frame_Shift_Ins_p.G402fs|MOV10L1_ENST00000545383.1_Frame_Shift_Ins_p.G402fs	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	402					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGCCTGAGCCTGGGGGGCTTGT	0.460													74	95	---	---	---	---