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
GRHL2	79977	broad.mit.edu	37	8	102555627	102555627	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:102555627G>A	ENST00000251808.3	+	2	517	c.179G>A	c.(178-180)aGt>aAt	p.S60N	GRHL2_ENST00000395927.1_Missense_Mutation_p.S44N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	60	Transcription activation.					cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GATGAGGACAGTGCTGCTGCC	0.537000													57	105					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159901696	159901696	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:159901696C>A	ENST00000368094.1	-	11	1465	c.1268G>T	c.(1267-1269)cGg>cTg	p.R423L	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.R407L	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	423	Ig-like 5.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCCTTGGGCCGCTCTATAAA	0.577000													20	94					3.7963e-18	4.42553e-18	1	1	0
HADH	3033	broad.mit.edu	37	4	108935733	108935733	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:108935733G>C	ENST00000505878.1	+	4	693	c.420G>C	c.(418-420)aaG>aaC	p.K140N	HADH_ENST00000603302.1_Missense_Mutation_p.K136N|HADH_ENST00000454409.2_Missense_Mutation_p.K140N|HADH_ENST00000309522.3_Missense_Mutation_p.K136N|HADH_ENST00000403312.1_Missense_Mutation_p.K195N			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	136					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	GGCTGGACAAGTTTGCTGCTG	0.383000													29	163					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155258185	155258185	+	Silent	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:155258185C>A	ENST00000368358.3	+	8	2264	c.2256C>A	c.(2254-2256)gcC>gcA	p.A752A	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	752	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAAGGACAGCCCAGCCCCCCA	0.617000													29	152					7.01153e-11	7.58684e-11	1	1	0
COG8	84342	broad.mit.edu	37	16	69373327	69373327	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr16:69373327C>T	ENST00000306875.4	-	1	243	c.129G>A	c.(127-129)cgG>cgA	p.R43R	RP11-343C2.9_ENST00000563634.1_Intron|COG8_ENST00000562081.1_Silent_p.R43R|RP11-343C2.7_ENST00000564737.1_Intron	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	43					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CCACATCGGGCCGCTCGCGCC	0.751000													19	6					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196743181	196743181	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:196743181C>A	ENST00000296350.5	-	8	1073	c.960G>T	c.(958-960)caG>caT	p.Q320H		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	320	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTAGATCCTTCTGGCCATAGG	0.582000													20	394					1.50039e-11	1.64032e-11	1	1	0
ZDHHC4	55146	broad.mit.edu	37	7	6628477	6628477	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:6628477G>A	ENST00000396706.2	+	8	1414	c.971G>A	c.(970-972)cGg>cAg	p.R324Q	AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R324Q|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R324Q|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R324Q|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R324Q|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R324Q			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	324						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CATGGGCTTCGGAGCAACCTT	0.537000													34	147					0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104561975	104561975	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:104561975C>T	ENST00000551177.1	+	4	503	c.411C>T	c.(409-411)gtC>gtT	p.V137V	ASPG_ENST00000455920.2_Silent_p.V137V|ASPG_ENST00000546892.2_Silent_p.V137V	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	137	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						AGAAGACTGTCATCCTCACTG	0.637000													40	64					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35763640	35763640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:35763640C>T	ENST00000440995.2	+	26	3622	c.3622C>T	c.(3622-3624)Cga>Tga	p.R1208*	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.R1213*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1213					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTAGTTCCTCGAATATCCAT	0.333000													27	35					0	0	1	0	0
SLC25A33	84275	broad.mit.edu	37	1	9640230	9640230	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:9640230T>A	ENST00000302692.6	+	6	911	c.701T>A	c.(700-702)tTt>tAt	p.F234Y		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	234					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		ACAAGTTTTTTTGGACTTATG	0.398000													26	45					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107719385	107719385	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:107719385A>G	ENST00000497705.1	+	7	1474	c.1435A>G	c.(1435-1437)Aga>Gga	p.R479G	OXR1_ENST00000452423.2_Intron|OXR1_ENST00000442977.2_Intron|OXR1_ENST00000445937.1_Intron|OXR1_ENST00000517566.2_Intron|OXR1_ENST00000312046.6_Intron|OXR1_ENST00000531443.1_Intron			Q8N573	OXR1_HUMAN	oxidation resistance 1	0					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TAAGTGTTATAGAGTAAATGA	0.378000													23	33					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126238326	126238326	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:126238326C>T	ENST00000394329.3	+	1	773	c.760C>T	c.(760-762)Cac>Tac	p.H254Y		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	254	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGCAGTTCTCACTACCAGGC	0.627000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	50					0	0	1	0	0
KLHL35	283212	broad.mit.edu	37	11	75139524	75139524	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:75139524G>A	ENST00000539798.1	-	2	1028	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	KLHL35_ENST00000376292.4_Silent_p.F123F	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	123										lung(2)|stomach(1)	3						CACAGGCGGCGAATTCTGAGC	0.647000													41	31					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513517	78513517	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:78513517C>A	ENST00000397909.2	+	15	3714	c.3541C>A	c.(3541-3543)Cca>Aca	p.P1181T	NAV3_ENST00000228327.6_Missense_Mutation_p.P1181T|NAV3_ENST00000266692.7_Missense_Mutation_p.P1181T|NAV3_ENST00000536525.2_Missense_Mutation_p.P1181T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1181	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGAGAGAACCAACTAAAAT	0.502000										HNSCC(70;0.22)			44	54					1.6237e-14	1.87213e-14	1	1	0
RLF	6018	broad.mit.edu	37	1	40703673	40703673	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:40703673C>T	ENST00000372771.4	+	8	3326	c.3299C>T	c.(3298-3300)tCa>tTa	p.S1100L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1100					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAGTCAGTTTCATCTATCTCA	0.418000													41	89					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110915984	110915984	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:110915984C>T	ENST00000265171.5	+	20	3398	c.2953C>T	c.(2953-2955)Ctc>Ttc	p.L985F	EGF_ENST00000503392.1_Missense_Mutation_p.L944F|EGF_ENST00000509793.1_Missense_Mutation_p.L943F	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	985	EGF-like 9.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGGGTACTGCCTCCATGATGG	0.468000													39	63					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42281668	42281668	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr15:42281668G>C	ENST00000399518.3	-	15	2154	c.1668C>G	c.(1666-1668)ttC>ttG	p.F556L	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.F527L	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	544	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCCCCATGAAGAACTCGGAGC	0.602000											OREG0023079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	5					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135533180	135533180	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:135533180C>T	ENST00000520727.1	-	14	3443	c.3144G>A	c.(3142-3144)ttG>ttA	p.L1048L	ZFAT_ENST00000377838.3_Silent_p.L1060L|ZFAT_ENST00000520214.1_Silent_p.L1048L|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000523399.1_Silent_p.L998L|ZFAT_ENST00000520356.1_Silent_p.L1048L|ZFAT_ENST00000429442.2_Silent_p.L1048L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTTTGTTCTTCAAGTGCCTAT	0.388000													12	77					0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28045366	28045366	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:28045366C>T	ENST00000263181.6	-	16	2826	c.2536G>A	c.(2536-2538)Gta>Ata	p.V846I		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	846					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	p.V846I(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CCAGAATTTACGTCTGCAGTT	0.318000													6	34					0	0	1	0	0
OR5K2	402135	broad.mit.edu	37	3	98216771	98216771	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:98216771G>C	ENST00000427338.1	+	1	324	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	CLDND1_ENST00000502288.1_3'UTR	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAAAATGTTAGAGAACTTCTT	0.428000													52	335					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458443	142458443	+	Silent	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:142458443G>T	ENST00000486171.1	+	2	95	c.78G>T	c.(76-78)ggG>ggT	p.G26G	PRSS1_ENST00000311737.7_Silent_p.G26G			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	26	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGATCGTTGGGGGCTACAACT	0.542000													8	304					2.68362e-12	2.996e-12	1	1	0
SLC25A37	51312	broad.mit.edu	37	8	23429090	23429090	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:23429090C>T	ENST00000519973.1	+	4	937	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	247					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GGCCGGGGCCCTCGCCGCGGC	0.652000													13	16					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160430063	160430063	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:160430063C>A	ENST00000356956.1	+	3	459	c.311C>A	c.(310-312)gCa>gAa	p.A104E		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	104					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTGAGAAGTGCAACCAGATCT	0.428000													48	44					2.69774e-35	3.3288e-35	1	1	0
MYH13	8735	broad.mit.edu	37	17	10253986	10253986	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:10253986C>A	ENST00000418404.3	-	11	1194	c.1031G>T	c.(1030-1032)aGc>aTc	p.S344I	MYH13_ENST00000252172.4_Missense_Mutation_p.S344I|MYH13_ENST00000570743.1_Missense_Mutation_p.S344I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	344	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCCTCTGAGCTGAAGCCCAG	0.493000													63	20					4.45325e-31	5.36935e-31	1	1	0
SPPL2B	56928	broad.mit.edu	37	19	2353005	2353005	+	RNA	SNP	A	A	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:2353005A>G	ENST00000452401.2	+	0	1717				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCCAAAGACTCTGCCACG	0.657000													12	35					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100961637	100961637	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:100961637G>A	ENST00000193391.7	-	14	3104	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	973	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTGACGTTAGGAGGGACAGAA	0.428000													74	102					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102155466	102155466	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:102155466A>T	ENST00000299314.7	-	14	3053	c.2791T>A	c.(2791-2793)Ttt>Att	p.F931I		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	931					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GAATCTGCAAATGTATCTTTT	0.383000													60	74					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777132	44777132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:44777132C>T	ENST00000391958.2	+	5	446	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TATATGCTGGCAAATATGGGA	0.338000													9	49					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284381	223284381	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:223284381C>A	ENST00000540964.1	-	4	2454	c.1993G>T	c.(1993-1995)Ggc>Tgc	p.G665C	TLR5_ENST00000342210.6_Missense_Mutation_p.G665C			O60602	TLR5_HUMAN	toll-like receptor 5	665			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAACAGAAGCCCCGGAACTTT	0.448000													82	26					1.91593e-42	2.37801e-42	1	1	0
OR4A5	81318	broad.mit.edu	37	11	51412203	51412203	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:51412203A>T	ENST00000319760.6	-	1	245	c.193T>A	c.(193-195)Tca>Aca	p.S65T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TCTATAAATGACAGGCAGGCA	0.443000													27	53					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45732961	45732961	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr21:45732961C>T	ENST00000403390.1	+	6	669	c.669C>T	c.(667-669)atC>atT	p.I223I	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Silent_p.I176I			P17858	K6PL_HUMAN	phosphofructokinase, liver	176					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		ACATGACCATCGGCACGGACT	0.637000													38	68					0	0	1	0	0
TEX30	93081	broad.mit.edu	37	13	103421818	103421818	+	Translation_Start_Site	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr13:103421818T>C	ENST00000376019.1	-	0	802				TEX30_ENST00000376029.3_Missense_Mutation_p.Y30C|TEX30_ENST00000376022.1_De_novo_Start_OutOfFrame|TEX30_ENST00000376032.4_Missense_Mutation_p.Y30C|TEX30_ENST00000487260.1_5'UTR|TEX30_ENST00000376021.4_De_novo_Start_OutOfFrame|TEX30_ENST00000376027.1_Missense_Mutation_p.Y30C			Q5JUR7	CM027_HUMAN	testis expressed 30											lung(1)|urinary_tract(1)	2						AATTATTCCATATGTTAAGCT	0.358000													19	9					0	0	1	0	0
WBP4	11193	broad.mit.edu	37	13	41639314	41639314	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr13:41639314C>T	ENST00000379487.3	+	4	553	c.153C>T	c.(151-153)agC>agT	p.S51S	WBP4_ENST00000542082.1_Silent_p.S30S	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	51					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		AACAGAAAAGCCTGGATAAGG	0.373000													15	44					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411528	51411528	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:51411528C>G	ENST00000319760.6	-	1	920	c.868G>C	c.(868-870)Gag>Cag	p.E290Q		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TTTCTCATCTCTGAATTTCTC	0.343000													19	17					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs148273194	by1000genomes	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274								p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458000													5	172					0.00198382	0.00203197	1	1	0
CPLX3	594855	broad.mit.edu	37	15	75122660	75122660	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr15:75122660C>A	ENST00000395018.4	+	3	599	c.442C>A	c.(442-444)Ctc>Atc	p.L148I	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	148						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						ACTGGGGGATCTCAAGCAATC	0.607000													22	20					7.33628e-21	8.74551e-21	1	1	0
CGREF1	10669	broad.mit.edu	37	2	27324711	27324711	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:27324711C>T	ENST00000402394.1	-	6	656	c.388G>A	c.(388-390)Ggg>Agg	p.G130R	CGREF1_ENST00000260595.5_Missense_Mutation_p.G130R|CGREF1_ENST00000405600.1_Missense_Mutation_p.G130R|CGREF1_ENST00000404694.3_Missense_Mutation_p.G252R|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G130R|CGREF1_ENST00000452318.2_Missense_Mutation_p.G34R	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	130	EF-hand 2.				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCCATCCCCATTCAGGTCC	0.592000													53	55					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21712542	21712542	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:21712542A>G	ENST00000358491.4	+	2	294	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	ZNF429_ENST00000597078.1_Missense_Mutation_p.Y29C|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CAGAACTTATATAGAAATGTG	0.408000													116	124					0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17491707	17491707	+	Silent	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:17491707C>A	ENST00000541323.1	+	6	1369	c.924C>A	c.(922-924)atC>atA	p.I308I	PDGFRL_ENST00000251630.6_Silent_p.I308I|PDGFRL_ENST00000398074.3_Silent_p.I308I|PDGFRL_ENST00000523248.1_3'UTR	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	308	Ig-like C2-type 2.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		TCACCTGGATCTTCCCAGGGC	0.547000													26	63					1.42536e-11	1.56641e-11	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152510425	152510425	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:152510425C>G	ENST00000367255.5	-	128	23864	c.23263G>C	c.(23263-23265)Gag>Cag	p.E7755Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.E7684Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7367Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2279Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E7684Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E7755Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7755					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCAGAAGCTCTACGCGTTCA	0.438000										HNSCC(10;0.0054)			32	79					0	0	1	0	0
CCDC47	57003	broad.mit.edu	37	17	61843401	61843401	+	Silent	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:61843401G>T	ENST00000225726.5	-	2	517	c.135C>A	c.(133-135)gtC>gtA	p.V45V	CCDC47_ENST00000582252.1_Silent_p.V45V|CCDC47_ENST00000403162.3_Silent_p.V45V	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	45						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AGTCTTCCATGACATCCTCAA	0.433000													123	157					1.84576e-31	2.23825e-31	1	1	0
MTHFD1	4522	broad.mit.edu	37	14	64908855	64908855	+	Silent	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:64908855C>G	ENST00000555709.1	+	20	2355	c.1968C>G	c.(1966-1968)ctC>ctG	p.L656L	MTHFD1_ENST00000545908.1_Silent_p.L712L|MTHFD1_ENST00000216605.7_Silent_p.L712L|CTD-2555O16.2_ENST00000556640.1_RNA	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	656	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGATCGCACTCAAGCTTGTTG	0.478000													50	58					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48809798	48809798	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:48809798G>C	ENST00000314191.2	-	30	3577	c.3521C>G	c.(3520-3522)gCt>gGt	p.A1174G	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A1174G	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1174					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCCACAATGAGCTAAAAGCCA	0.423000								Non-homologous end-joining					131	102					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87393860	87393860	+	Splice_Site	SNP	T	T	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:87393860T>A	ENST00000517970.1	+	5	641		c.e5+2		WWP1_ENST00000523863.1_Splice_Site|WWP1_ENST00000265428.4_Splice_Site|WWP1_ENST00000341922.2_Splice_Site|WWP1_ENST00000349423.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1						central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ATAGAAAATGTAAGTTTTTTG	0.299000													16	20					0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152037563	152037563	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:152037563G>C	ENST00000370274.3	+	8	1219	c.1025G>C	c.(1024-1026)aGa>aCa	p.R342T	NSDHL_ENST00000440023.1_Missense_Mutation_p.R342T	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	342					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AGCTGCGAGAGAGCCAAAAAG	0.587000													20	5					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119148130	119148130	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:119148130G>C	ENST00000296499.5	+	8	2215	c.1812G>C	c.(1810-1812)caG>caC	p.Q604H	NDST3_ENST00000433996.2_Missense_Mutation_p.Q523H	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	604	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TAGGACCCCAGAAAACTGGTG	0.363000													15	64					0	0	1	0	0
PEX19	5824	broad.mit.edu	37	1	160251977	160251977	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:160251977G>A	ENST00000368072.5	-	5	467	c.446C>T	c.(445-447)tCg>tTg	p.S149L	PEX19_ENST00000440949.3_Missense_Mutation_p.S59L|DCAF8_ENST00000556710.1_Missense_Mutation_p.S2L|PEX19_ENST00000532508.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCTTCTTCCGACATGCTGGA	0.493000													12	65					0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13260526	13260526	+	Silent	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr20:13260526C>G	ENST00000262487.3	+	3	630	c.624C>G	c.(622-624)acC>acG	p.T208T	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	208						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CTTTTGAAACCAAAGATCAGC	0.498000													16	33					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:53856761T>C	ENST00000458035.1	+	4	2950	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348000													3	21					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158621	102158621	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:102158621C>G	ENST00000299314.7	-	13	2336	c.2074G>C	c.(2074-2076)Gag>Cag	p.E692Q		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	692					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ATTTTCACCTCTTCCTGGGCT	0.428000													28	46					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20522856	20522856	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:20522856T>A	ENST00000359062.3	+	1	678	c.638T>A	c.(637-639)cTc>cAc	p.L213H	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	213					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGGGCGTCCTCATGATCGCC	0.647000													19	56					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509442	71509442	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:71509442G>A	ENST00000396073.3	+	9	2580	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	767			D -> G (in dbSNP:rs3796705).		bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAATTCCTGGGACCACAGGAT	0.478000													49	65					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178942	223178942	+	Silent	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:223178942G>C	ENST00000284476.6	+	8	4367	c.4203G>C	c.(4201-4203)tcG>tcC	p.S1401S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1401					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GCACTGGATCGTTACTCAAAA	0.458000													17	66					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87407012	87407012	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:87407012T>G	ENST00000327946.7	-	13	2225	c.2140A>C	c.(2140-2142)Aag>Cag	p.K714Q	GRID1_ENST00000536331.1_Missense_Mutation_p.K285Q|RP11-93H12.4_ENST00000474115.2_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	714						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCTCCGTTCTTGCTGATGGTC	0.592000										Multiple Myeloma(13;0.14)			161	213					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187518091	187518091	+	Silent	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:187518091G>C	ENST00000441802.2	-	25	12812	c.12603C>G	c.(12601-12603)ctC>ctG	p.L4201L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4201					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTTACGGCAGAGAACAAACA	0.468000										HNSCC(5;0.00058)			29	97					0	0	1	0	0
OVOS2	144203	broad.mit.edu	37	12	31267773	31267773	+	RNA	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:31267773C>T	ENST00000542490.1	-	0	754																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						TTATTTACCTCTTCAATGGAT	0.313000													16	11					0	0	1	0	0
FANCL	55120	broad.mit.edu	37	2	58431263	58431263	+	Splice_Site	SNP	A	A	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:58431263A>T	ENST00000402135.3	-	6	508		c.e6+1		FANCL_ENST00000403676.1_Splice_Site|FANCL_ENST00000403295.3_Splice_Site|FANCL_ENST00000540646.1_Intron|FANCL_ENST00000233741.4_Splice_Site	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L						DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CGAGGCACATACCTTTGCCTT	0.368000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				32	32					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144916643	144916643	+	Missense_Mutation	SNP	C	C	A	rs141467460		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:144916643C>A	ENST00000529945.1	-	9	2640	c.2201G>T	c.(2200-2202)cGt>cTt	p.R734L	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R734L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R637L|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R358L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R708L|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R571L|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R571L|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R571L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R571L|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R708L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	571					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTCTGCCAACGGCTAAATTT	0.448000			T	PDGFRB	MPD								197	620					3.18325e-104	3.99801e-104	1	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118231356	118231356	+	Silent	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:118231356G>C	ENST00000369230.3	+	10	1283	c.1137G>C	c.(1135-1137)ggG>ggC	p.G379G		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	379	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GTGTAGGCGGGGCAGTTAGGA	0.478000													13	148					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53742373	53742373	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:53742373C>T	ENST00000306052.6	-	5	975	c.874G>A	c.(874-876)Gcc>Acc	p.A292T	LRP8_ENST00000347547.2_Intron|LRP8_ENST00000465675.1_Intron|LRP8_ENST00000371454.2_Missense_Mutation_p.A292T|LRP8_ENST00000354412.3_Intron	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	292	LDL-receptor class A 6.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CGGCAGTCGGCCTCGTCCGAT	0.687000													7	4					0	0	1	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70415748	70415748	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr16:70415748G>C	ENST00000393640.4	-	6	3004	c.897C>G	c.(895-897)ttC>ttG	p.F299L	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.F299L			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	299					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TGTCGGCCCCGAACCCGTACA	0.701000													32	205					0	0	1	0	0
SOD2	6648	broad.mit.edu	37	6	160113793	160113793	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:160113793G>A	ENST00000538183.1	-	2	286	c.126C>T	c.(124-126)atC>atT	p.I42I	SOD2_ENST00000337404.4_Silent_p.I42I|SOD2_ENST00000367054.2_Silent_p.I42I|SOD2_ENST00000452684.2_Silent_p.I42I|SOD2_ENST00000367055.4_Silent_p.I42I|SOD2_ENST00000546087.1_5'UTR|SOD2_ENST00000444946.2_Silent_p.I42I	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	42					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		TCTGCGCGTTGATGTGAGGTT	0.627000													19	37					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18258344	18258344	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:18258344T>A	ENST00000262811.5	+	26	3304	c.3304T>A	c.(3304-3306)Tcc>Acc	p.S1102T	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1102	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CTCACTGTCATCCAGTGAGAG	0.642000													11	10					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42854927	42854927	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:42854927G>T	ENST00000200557.6	+	22	2028	c.1859G>T	c.(1858-1860)aGt>aTt	p.S620I	ADAM11_ENST00000535346.1_Missense_Mutation_p.S420I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	620	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GGAGACATCAGTAGTGTCACC	0.592000													81	115					5.04879e-28	6.05281e-28	1	1	0
ZBBX	79740	broad.mit.edu	37	3	167077706	167077706	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:167077706C>G	ENST00000392766.2	-	8	724	c.384G>C	c.(382-384)aaG>aaC	p.K128N	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.K128N|ZBBX_ENST00000307529.5_Missense_Mutation_p.K128N|ZBBX_ENST00000455345.2_Missense_Mutation_p.K128N|ZBBX_ENST00000392764.1_Missense_Mutation_p.K99N	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	128						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCCCATTTATCTTGGGTTTTT	0.303000													12	72					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101567180	101567180	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:101567180C>A	ENST00000370449.4	+	12	1683	c.1570C>A	c.(1570-1572)Caa>Aaa	p.Q524K		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	524	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATTCAGAGACCAAGTACAAAA	0.428000													17	146					1.5739e-10	1.68575e-10	1	1	0
IGSF11	152404	broad.mit.edu	37	3	118621641	118621641	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:118621641A>C	ENST00000354673.2	-	9	1399	c.1019T>G	c.(1018-1020)tTg>tGg	p.L340W	IGSF11_ENST00000441144.2_Missense_Mutation_p.L316W|IGSF11_ENST00000425327.2_Missense_Mutation_p.L340W|IGSF11_ENST00000393775.2_Missense_Mutation_p.L341W|IGSF11_ENST00000489689.1_Missense_Mutation_p.L317W|IGSF11_ENST00000491903.1_Missense_Mutation_p.L313W	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	341					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGATTGGCCCAAGTCACTGAA	0.458000													98	84					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35541166	35541166	+	Silent	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:35541166G>T	ENST00000287272.2	+	5	692	c.672G>T	c.(670-672)tcG>tcT	p.S224S	UNC5D_ENST00000453357.2_Silent_p.S219S|UNC5D_ENST00000420357.1_Silent_p.S224S|UNC5D_ENST00000404895.2_Silent_p.S224S|UNC5D_ENST00000416672.1_Silent_p.S224S			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	224	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CACGGCTCTCGGACTCAGGAA	0.517000													15	35					0.00498961	0.00508603	1	1	0
EMC1	23065	broad.mit.edu	37	1	19549195	19549195	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:19549195G>T	ENST00000477853.1	-	20	2552	c.2510C>A	c.(2509-2511)tCc>tAc	p.S837Y	EMC1_ENST00000375199.3_Missense_Mutation_p.S836Y|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.S815Y	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		GAAGATATAGGACTGCTGGAG	0.617000													17	44					2.23348e-06	2.36817e-06	1	1	0
ABCC2	1244	broad.mit.edu	37	10	101567179	101567179	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:101567179C>A	ENST00000370449.4	+	12	1682	c.1569C>A	c.(1567-1569)gaC>gaA	p.D523E		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	523	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CATTCAGAGACCAAGTACAAA	0.428000													17	146					1.5739e-10	1.68575e-10	1	1	0
TRIML1	339976	broad.mit.edu	37	4	189068236	189068236	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:189068236G>T	ENST00000332517.3	+	6	1257	c.1117G>T	c.(1117-1119)Ggg>Tgg	p.G373W	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	373	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAAGCCACCTGGGGACCTGTT	0.522000													24	73					2.39556e-15	2.77728e-15	1	1	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766188	171766188	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:171766188G>C	ENST00000311601.5	-	13	2091	c.1921C>G	c.(1921-1923)Cag>Gag	p.Q641E	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	641					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGCCTAACCTGAGGTCTGGAC	0.562000													71	22					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94159559	94159559	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:94159559G>T	ENST00000282020.4	+	8	1421	c.1163G>T	c.(1162-1164)gGa>gTa	p.G388V	GRID2_ENST00000510992.1_Missense_Mutation_p.G293V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	388					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTAGAATTTGGAGAAAATGGA	0.383000													41	44					2.35958e-20	2.79704e-20	1	1	0
IGLV1-47	28822	broad.mit.edu	37	22	22712568	22712568	+	RNA	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr22:22712568C>A	ENST00000390294.2	+	0	367																											GAGGATGAGGCTGATTATTAC	0.602000													56	197					2.27459e-33	2.79034e-33	1	1	0
COL17A1	1308	broad.mit.edu	37	10	105831828	105831828	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:105831828A>G	ENST00000353479.5	-	8	715	c.425T>C	c.(424-426)aTt>aCt	p.I142T	COL17A1_ENST00000369733.3_Missense_Mutation_p.I142T|COL17A1_ENST00000393211.3_Missense_Mutation_p.I142T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	142	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCGAACTCGAATTTCACTCTC	0.488000													34	12					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:82784471A>G	ENST00000423517.2	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000333891.8_Missense_Mutation_p.S496P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	442	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S496P(6)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607000													16	376					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110653985	110653985	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:110653985C>G	ENST00000338081.3	-	1	389	c.218G>C	c.(217-219)tGt>tCt	p.C73S	DCX_ENST00000488120.1_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000356915.2_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	73					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GACTTACTGACAGTGGCTCCT	0.438000													4	161					0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176964812	176964812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:176964812G>T	ENST00000406506.2	+	1	355	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	HOXD12_ENST00000404162.2_Nonsense_Mutation_p.E95*			P35452	HXD12_HUMAN	homeobox D12	95						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AGACGGACCCGAAGAGCAGGC	0.711000													20	10					2.37509e-13	2.67992e-13	1	1	0
FANCA	2175	broad.mit.edu	37	16	89811462	89811462	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr16:89811462C>T	ENST00000389301.3	-	36	3561	c.3531G>A	c.(3529-3531)ctG>ctA	p.L1177L	FANCA_ENST00000568369.1_Silent_p.L1177L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1177					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCACAGGCTCCAGGCTCGGCC	0.642000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				31	30					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138191502	138191502	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:138191502G>A	ENST00000389567.4	+	18	2224	c.2038G>A	c.(2038-2040)Ggg>Agg	p.G680R		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	680						integral to membrane|plasma membrane		p.G680R(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGAGCCCATCGGGGAGAAGAA	0.597000													110	126					0	0	1	0	0
FAM49B	51571	broad.mit.edu	37	8	130859080	130859080	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:130859080T>C	ENST00000519824.2	-	11	1154	c.881A>G	c.(880-882)aAt>aGt	p.N294S	FAM49B_ENST00000522941.1_Missense_Mutation_p.N148S|FAM49B_ENST00000517654.1_Missense_Mutation_p.N294S|FAM49B_ENST00000401979.2_Missense_Mutation_p.N294S|FAM49B_ENST00000522746.1_Missense_Mutation_p.N294S|FAM49B_ENST00000522250.1_Missense_Mutation_p.N148S|FAM49B_ENST00000519540.1_Missense_Mutation_p.N294S|FAM49B_ENST00000523509.1_Missense_Mutation_p.N294S|FAM49B_ENST00000519110.1_Missense_Mutation_p.N294S	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	294										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TTCCACACTATTAGGAGGTTG	0.333000													10	29					0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281015	49281015	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr13:49281015G>C	ENST00000282018.3	+	1	65	c.62G>C	c.(61-63)gGc>gCc	p.G21A		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	21					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GAACCAAATGGCACCTTCAGC	0.368000													24	39					0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10398701	10398701	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:10398701G>A	ENST00000379613.3	-	7	1525	c.1269C>T	c.(1267-1269)caC>caT	p.H423H	TFAP2A_ENST00000319516.4_Silent_p.H417H|TFAP2A_ENST00000379604.2_Silent_p.H421H|TFAP2A_ENST00000379608.3_Silent_p.H415H|TFAP2A_ENST00000482890.1_Silent_p.H421H			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	421					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TGTTGTCCGTGTGGCTGTTGG	0.637000													395	128					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7866457	7866457	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr20:7866457G>A	ENST00000378789.3	-	6	919	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	290	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCCCCGTCCAGGAAGACTTCC	0.488000													41	141					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8421400	8421400	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:8421400T>G	ENST00000337907.3	-	19	2801	c.2167A>C	c.(2167-2169)Agt>Cgt	p.S723R	RERE_ENST00000377464.1_Missense_Mutation_p.S455R|RERE_ENST00000400908.2_Missense_Mutation_p.S723R|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.S169R	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	723					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCCGAGTCACTCTCATTGTCC	0.647000													56	39					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50052863	50052863	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:50052863T>C	ENST00000376042.1	+	6	1992	c.1694T>C	c.(1693-1695)aTg>aCg	p.M565T	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.M565T|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	565					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCTTTCTTTATGGAGCCAATG	0.383000													15	1					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588229	179588229	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:179588229C>T	ENST00000589042.1	-	74	21822	c.21598G>A	c.(21598-21600)Gac>Aac	p.D7200N	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D5956N|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D6883N|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6883	Ig-like 54.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGATATGTCAATATTAAAT	0.443000													37	21					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907963	103907963	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:103907963A>G	ENST00000302259.3	+	1	656	c.413A>G	c.(412-414)cAa>cGa	p.Q138R	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	138					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCCGGCCTGCAAGGTCTGGGC	0.677000													18	51					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACTGCTTGTAGATGGCCAT	0.622000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			139	14					0	0	1	0	0
NDUFA13	51079	broad.mit.edu	37	19	19638864	19638864	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:19638864G>T	ENST00000507754.3	+	5	865	c.364G>T	c.(364-366)Ggg>Tgg	p.G122W	CTC-260F20.3_ENST00000586674.1_3'UTR|CTC-260F20.3_ENST00000555938.1_Intron|NDUFA13_ENST00000252576.5_Missense_Mutation_p.G205W|NDUFA13_ENST00000503283.1_Intron					NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CCCCTTGATCGGGGAGCTGTA	0.647000													15	32					2.62699e-14	3.01247e-14	1	1	0
ZNF304	57343	broad.mit.edu	37	19	57865147	57865147	+	Missense_Mutation	SNP	C	C	T	rs140167914		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:57865147C>T	ENST00000391705.3	+	3	372	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F	ZNF304_ENST00000443917.2_Missense_Mutation_p.L30F|ZNF304_ENST00000282286.5_Missense_Mutation_p.L30F|ZNF304_ENST00000598744.1_5'UTR	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGAGTGGGAACTCCTTGAGGA	0.488000													58	58					0	0	1	0	0
ADAM17	6868	broad.mit.edu	37	2	9637328	9637328	+	Silent	SNP	A	A	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:9637328A>T	ENST00000310823.3	-	14	1880	c.1698T>A	c.(1696-1698)gtT>gtA	p.V566V		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	566	Cys-rich.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GATCCAAGCAAACAGTGTCAT	0.478000													56	65					0	0	1	0	0
MBD4	8930	broad.mit.edu	37	3	129155826	129155826	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:129155826C>G	ENST00000429544.2	-	3	856	c.661G>C	c.(661-663)Gat>Cat	p.D221H	MBD4_ENST00000509587.1_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.D221H|MBD4_ENST00000249910.1_Missense_Mutation_p.D221H|MBD4_ENST00000503197.1_Missense_Mutation_p.D221H|MBD4_ENST00000393278.2_Intron	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	221					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTAACATCATCAACACCCTCA	0.393000								Base excision repair (BER), DNA glycosylases					41	152					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187554856	187554856	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:187554856G>A	ENST00000441802.2	-	7	4514	c.4305C>T	c.(4303-4305)acC>acT	p.T1435T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1435	Cadherin 12.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGATAGTGGTGGTTCCATCTG	0.473000										HNSCC(5;0.00058)			73	77					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113256656	113256656	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:113256656T>C	ENST00000297405.5	-	65	10613	c.10369A>G	c.(10369-10371)Aac>Gac	p.N3457D	CSMD3_ENST00000343508.3_Missense_Mutation_p.N3417D|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3288D|CSMD3_ENST00000352409.3_Missense_Mutation_p.N3387D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3457	Sushi 28.					integral to membrane|plasma membrane		p.N3417Y(1)|p.N3457Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCCAGGTGTTATCGGATCTA	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	124					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296608	39296608	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:39296608G>C	ENST00000345847.4	-	1	131	c.132C>G	c.(130-132)agC>agG	p.S44R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	44	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GTCTGCAGCAGCTGGACACAC	0.677000													36	147					0	0	1	0	0
GOLGA6L3	100133220	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr15:83014106T>C	ENST00000557886.1	-	6	576	c.477A>G	c.(475-477)gtA>gtG	p.V159V															p.V159V(12)		endometrium(6)|kidney(5)|prostate(1)	12						GTAGCTGCTCTACCTTAGATG	0.498000													2	0					0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30693736	30693736	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr21:30693736C>T	ENST00000399921.1	+	2	378	c.135C>T	c.(133-135)ttC>ttT	p.F45F	BACH1_ENST00000286800.3_Silent_p.F45F	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	45	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GACAGCGGTTCCGCGCTCACC	0.522000													39	71					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75082775	75082775	+	Silent	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:75082775T>C	ENST00000310715.3	-	10	1188	c.1068A>G	c.(1066-1068)agA>agG	p.R356R	TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Silent_p.R356R|TTC18_ENST00000394865.1_Silent_p.R356R	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	356							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTCCCCGAATTCTCTTCACAC	0.368000													62	30					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738774	138738774	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:138738774G>T	ENST00000329447.5	-	1	994	c.730C>A	c.(730-732)Ccc>Acc	p.P244T	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	244	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCGCGTGGGGACCTGGACTC	0.657000													18	116					2.35188e-11	2.55797e-11	1	1	0
CXorf57	55086	broad.mit.edu	37	X	105882774	105882774	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:105882774G>T	ENST00000372548.4	+	9	1700	c.1591G>T	c.(1591-1593)Gct>Tct	p.A531S	CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	531										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GCTCTTGACAGCTATAAGTGA	0.343000													21	76					7.87624e-14	8.98318e-14	1	1	0
BTBD7	55727	broad.mit.edu	37	14	93708889	93708889	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:93708889G>A	ENST00000334746.5	-	11	3436	c.3129C>T	c.(3127-3129)gcC>gcT	p.A1043A	BTBD7_ENST00000393170.2_Silent_p.A617A|BTBD7_ENST00000554565.1_Silent_p.A692A	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1043										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CATTTTCTGGGGCTGCCAAAG	0.522000													65	181					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	53					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795498	142795498	+	Silent	SNP	A	A	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:142795498A>G	ENST00000370498.1	-	2	933	c.180T>C	c.(178-180)caT>caC	p.H60H		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	60										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTATTTTCGTATGCTTCCTGT	0.448000													57	13					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135123745	135123745	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:135123745C>T	ENST00000359035.3	+	4	510	c.507C>T	c.(505-507)caC>caT	p.H169H	ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Silent_p.H104H|ZNF511_ENST00000361518.5_Silent_p.H169H			Q8NB15	ZN511_HUMAN	zinc finger protein 511	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		TGAGGATGCACCTGTACCCCG	0.512000													109	39					0	0	1	0	0
TEX10	54881	broad.mit.edu	37	9	103109424	103109424	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr9:103109424T>C	ENST00000374902.4	-	3	621	c.445A>G	c.(445-447)Atg>Gtg	p.M149V	TEX10_ENST00000537512.1_Missense_Mutation_p.M84V|TEX10_ENST00000535814.1_Missense_Mutation_p.M152V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	149						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATGTGAGTCATGGCACTAGAG	0.423000													70	40					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4153692	4153692	+	Silent	SNP	C	C	T	rs138943707		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:4153692C>T	ENST00000404826.2	+	25	3748	c.3609C>T	c.(3607-3609)aaC>aaT	p.N1203N	SDK1_ENST00000389531.3_Silent_p.N1203N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1203	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.N1203N(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCAGTACAACGGGAACCCCG	0.592000													19	34					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519400	113519400	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:113519400G>A	ENST00000284601.3	-	4	1815	c.1747C>T	c.(1747-1749)Cat>Tat	p.H583Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	583					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTGGTGAATGAGACACATCT	0.488000													71	63					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32476214	32476214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:32476214C>T	ENST00000404025.2	-	5	1207	c.719G>A	c.(718-720)cGg>cAg	p.R240Q	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.R240Q|NLRC4_ENST00000402280.1_Missense_Mutation_p.R240Q			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	240	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACCCTCTGCCGCAGCTTCAG	0.498000													36	83					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93636555	93636555	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr9:93636555C>T	ENST00000375754.4	+	8	1133	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	SYK_ENST00000375751.4_Missense_Mutation_p.P306S|SYK_ENST00000375747.1_Missense_Mutation_p.P306S|SYK_ENST00000375746.1_Missense_Mutation_p.P329S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	329	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AGAACTTGCACCCTGGGCTGC	0.473000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								19	33					0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364878	29364878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:29364878G>A	ENST00000383555.2	+	1	463	c.402G>A	c.(400-402)atG>atA	p.M134I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CTGTCATCATGAACCCTCAGC	0.522000													63	51					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													6	429					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991252	21991252	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:21991252C>A	ENST00000594012.1	-	7	2083	c.1569G>T	c.(1567-1569)aaG>aaT	p.K523N	ZNF43_ENST00000598381.1_Missense_Mutation_p.K523N|ZNF43_ENST00000595461.1_Missense_Mutation_p.K523N|ZNF43_ENST00000354959.4_Missense_Mutation_p.K529N	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TATGAGTTATCTTATGTTCAG	0.353000													25	103					6.32553e-13	7.0994e-13	1	1	0
DUOX1	53905	broad.mit.edu	37	15	45454041	45454041	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr15:45454041T>G	ENST00000321429.4	+	31	4369	c.3962T>G	c.(3961-3963)tTc>tGc	p.F1321C	DUOX1_ENST00000389037.3_Missense_Mutation_p.F1321C|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.F967C	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1321	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TACCACCCCTTCACACTGACC	0.657000													20	23					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187795	57187795	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:57187795C>T	ENST00000331162.4	-	5	1597	c.1327G>A	c.(1327-1329)Ggc>Agc	p.G443S		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AAGGCTTTGCCACATTCTTCA	0.433000													25	71					0	0	1	0	0
G6PC3	92579	broad.mit.edu	37	17	42152387	42152387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:42152387C>T	ENST00000269097.4	+	4	698	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	156					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TTCCTTTTGGCGGTTGGCTTG	0.547000													5	324					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228540	140228540	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:140228540C>G	ENST00000378122.3	+	1	1184	c.460C>G	c.(460-462)Cta>Gta	p.L154V	PCDHA9_ENST00000532602.1_Missense_Mutation_p.L154V|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTTTCCACTAGAGGGCGC	0.547000													7	22					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72050969	72050969	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:72050969C>T	ENST00000378743.3	-	2	1069	c.711G>A	c.(709-711)ttG>ttA	p.L237L	ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.L237L|ZFC3H1_ENST00000552037.1_Silent_p.L237L	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	237					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATTCTAGTTCCAACTGTATTT	0.323000													21	29					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43519258	43519258	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:43519258G>A	ENST00000395891.1	+	17	3754	c.3149G>A	c.(3148-3150)cGa>cAa	p.R1050Q	HECW1_ENST00000453890.1_Missense_Mutation_p.R1016Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1050	WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATTGACCCCCGAATCCCTCTT	0.517000													99	91					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142277573	142277573	+	Missense_Mutation	SNP	A	A	T	rs145459793		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:142277573A>T	ENST00000350721.4	-	8	1899	c.1778T>A	c.(1777-1779)aTg>aAg	p.M593K	ATR_ENST00000383101.3_Missense_Mutation_p.M529K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	593					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAGTGAGAGCATACCACATAA	0.333000								Other conserved DNA damage response genes					178	286					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118475693	118475693	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:118475693G>T	ENST00000360388.4	+	2	460	c.259G>T	c.(259-261)Gat>Tat	p.D87Y		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	87					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTGTCAGAAGATTTCCACGC	0.453000													104	32					7.08676e-66	8.84797e-66	1	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													5	96					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418000													4	123					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153470	105153470	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:105153470G>C	ENST00000428173.2	+	13	2143	c.1840G>C	c.(1840-1842)Gag>Cag	p.E614Q	NRK_ENST00000243300.9_Missense_Mutation_p.E613Q			Q7Z2Y5	NRK_HUMAN	Nik related kinase	613							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CATTCCAGTAGAGGGGCAAAC	0.493000										HNSCC(51;0.14)			12	11					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562231	140562231	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:140562231T>C	ENST00000361016.2	+	1	1252	c.97T>C	c.(97-99)Tat>Cat	p.Y33H		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		33					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTGGGGTCCTATTCCGTAGT	0.522000													55	90					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158142636	158142636	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:158142636G>C	ENST00000259056.4	+	3	2216	c.1731G>C	c.(1729-1731)caG>caC	p.Q577H		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	577	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CAGGAGCACAGAATGCAACAG	0.358000													32	32					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4433520	4433520	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:4433520G>A	ENST00000301280.5	+	13	2758	c.2657G>A	c.(2656-2658)cGc>cAc	p.R886H		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	886	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAAGAAGCGCAGGCACGAC	0.557000								Chromatin Structure					28	61					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947745	165947745	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:165947745C>A	ENST00000360093.3	-	28	5409	c.4918G>T	c.(4918-4920)Ggg>Tgg	p.G1640W	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.G1640W|SCN3A_ENST00000409101.3_Missense_Mutation_p.G1591W|SCN3A_ENST00000540861.1_Missense_Mutation_p.G123W	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1640						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTGCGGATCCCCTTTGCTCCT	0.493000													49	186					8.78508e-14	9.96587e-14	1	1	0
PLOD2	5352	broad.mit.edu	37	3	145795702	145795702	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:145795702T>A	ENST00000282903.5	-	14	1687	c.1510A>T	c.(1510-1512)Agg>Tgg	p.R504W	PLOD2_ENST00000360060.3_Intron|PLOD2_ENST00000461497.1_Missense_Mutation_p.R164W|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.R449W	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	500					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCTTTTTCCCTTTGTAAAGTC	0.348000													53	327					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94526560	94526560	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:94526560G>A	ENST00000330836.5	-	5	1928	c.1797C>T	c.(1795-1797)tgC>tgT	p.C599C	DDX24_ENST00000555054.1_Silent_p.C556C|DDX24_ENST00000544005.1_Silent_p.C349C	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	599	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGCGTTTGATGCAGGAGATAC	0.498000													19	73					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140275400	140275400	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:140275400G>A	ENST00000458420.3	+	11	1910	c.1720G>A	c.(1720-1722)Gac>Aac	p.D574N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	574					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGAAGGTGACGACATTGGGAA	0.502000										HNSCC(16;0.037)			46	302					0	0	1	0	0
NBPF22P	285622	broad.mit.edu	37	5	85578434	85578434	+	RNA	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:85578434G>T	ENST00000590707.1	+	0	157					NR_003719.2																						TGTTCATCAAGTTTTTCTCAA	0.418000													8	3					0.27861	0.27861	1	1	0
TRAM1L1	133022	broad.mit.edu	37	4	118005838	118005838	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:118005838G>T	ENST00000310754.4	-	1	898	c.712C>A	c.(712-714)Ctg>Atg	p.L238M		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	238	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AAGTAAAACAGGCCGCACATG	0.388000													4	103					0.00909568	0.00922687	1	1	0
HPN	3249	broad.mit.edu	37	19	35551281	35551281	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:35551281G>A	ENST00000262626.2	+	8	1310	c.485G>A	c.(484-486)cGc>cAc	p.R162H	HPN_ENST00000392226.1_Missense_Mutation_p.R162H|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Intron	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	162					cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCCGTGGACCGCATCGTGGGA	0.692000													6	110					0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622000													7	560					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641455	99641455	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:99641455A>C	ENST00000345514.2	-	3	1771	c.1505T>G	c.(1504-1506)gTg>gGg	p.V502G	BCL11B_ENST00000443726.2_Missense_Mutation_p.V379G|BCL11B_ENST00000357195.3_Missense_Mutation_p.V573G	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	573						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		gaccccgggcACCCCACCACC	0.711000			T	TLX3	T-ALL								7	14					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183050726	183050726	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:183050726T>A	ENST00000435564.1	-	13	1657	c.1457A>T	c.(1456-1458)tAt>tTt	p.Y486F	PDE1A_ENST00000346717.4_Missense_Mutation_p.Y452F|PDE1A_ENST00000331935.6_Missense_Mutation_p.Y486F|PDE1A_ENST00000456212.1_Missense_Mutation_p.Y486F|PDE1A_ENST00000410103.1_Missense_Mutation_p.Y486F|PDE1A_ENST00000409365.1_Missense_Mutation_p.Y470F|PDE1A_ENST00000536095.1_Missense_Mutation_p.Y382F|PDE1A_ENST00000351439.5_Missense_Mutation_p.Y470F|PDE1A_ENST00000358139.2_Missense_Mutation_p.Y486F	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	486	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GTCTGGGGAATAGGACCCATC	0.458000													16	108					0	0	1	0	0
FLOT1	10211	broad.mit.edu	37	6	30698343	30698343	+	Splice_Site	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:30698343C>G	ENST00000376389.3	-	11	1172		c.e11-1		FLOT1_ENST00000456573.2_Splice_Site	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1							centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CCCCACGCATCTGAGGGTTAA	0.562000													65	163					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152058967	152058967	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:152058967G>A	ENST00000409598.4	-	14	2671	c.1504C>T	c.(1504-1506)Ctg>Ttg	p.L502L	SH3D19_ENST00000455740.1_Silent_p.L502L|SH3D19_ENST00000424281.1_Silent_p.L466L|SH3D19_ENST00000427414.2_Silent_p.L466L|SH3D19_ENST00000304527.4_Silent_p.L525L|SH3D19_ENST00000514152.1_Silent_p.L502L|SH3D19_ENST00000409252.2_Silent_p.L525L			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	525	SH3 2.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ATCTTCTCCAGAAGATAAACA	0.358000													34	31					0	0	1	0	0
SGCG	6445	broad.mit.edu	37	13	23777923	23777923	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr13:23777923C>T	ENST00000218867.3	+	2	214	c.90C>T	c.(88-90)ggC>ggT	p.G30G	SGCG_ENST00000545013.1_Silent_p.G30G|SGCG_ENST00000537476.1_Silent_p.G30G	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	30					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GCATTTATGGCTGGAGAAAGC	0.428000													13	27					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9406610	9406610	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:9406610G>A	ENST00000591998.1	-	6	1698	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	ZNF699_ENST00000308650.3_Silent_p.L490L			Q32M78	ZN699_HUMAN	zinc finger protein 699	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGTGTTCGGTGAGGGATGAGG	0.448000													35	44					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24487861	24487861	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:24487861G>A	ENST00000264463.4	-	12	2785	c.2278C>T	c.(2278-2280)Caa>Taa	p.Q760*	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	760					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCGTAGTTTTGGTCTCCTTCA	0.448000										HNSCC(23;0.051)			97	138					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127015049	127015049	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:127015049T>A	ENST00000393313.1	-	5	932	c.341A>T	c.(340-342)aAt>aTt	p.N114I	ZNF800_ENST00000393312.1_Missense_Mutation_p.N114I|ZNF800_ENST00000265827.3_Missense_Mutation_p.N114I			Q2TB10	ZN800_HUMAN	zinc finger protein 800	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TAGGAGATCATTTATGGCTTG	0.323000													4	75					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													5	144					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	30					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													4	105					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60891826	60891826	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr20:60891826C>A	ENST00000252999.3	-	57	7723	c.7657G>T	c.(7657-7659)Gtg>Ttg	p.V2553L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2553	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCCGCACCACCGTCTGTGGA	0.692000													13	24					0.00010058	0.000104544	1	1	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													5	411					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116049006	116049006	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:116049006G>T	ENST00000603594.1	+	12	2201	c.1880G>T	c.(1879-1881)gGt>gTt	p.G627V	VWA2_ENST00000392982.3_Missense_Mutation_p.G627V	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	627	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GTCCAGAGGGGTGCCCGGCCT	0.642000													4	34					0.00024832	0.000256841	1	1	0
ZNF280D	54816	broad.mit.edu	37	15	56924166	56924166	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr15:56924166T>C	ENST00000559237.1	-	21	3114	c.2431A>G	c.(2431-2433)Atc>Gtc	p.I811V	ZNF280D_ENST00000267807.7_Missense_Mutation_p.I824V	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	824					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CAACTGACGATGTTTTTTGAG	0.363000													63	16					0	0	1	0	0
CCDC7	221016	broad.mit.edu	37	10	32740519	32740519	+	Splice_Site	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:32740519G>A	ENST00000545067.1	+	2	245		c.e2-1		CCDC7_ENST00000362006.5_Splice_Site|CCDC7_ENST00000277657.6_Splice_Site			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7											NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TTTTTTCACAGGGAGGAATAA	0.348000													16	1					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155267708	155267708	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:155267708G>A	ENST00000460012.1	-	10	1497	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	PLCH1_ENST00000447496.2_Silent_p.I398I|PLCH1_ENST00000414191.1_Silent_p.I380I|PLCH1_ENST00000340059.7_Silent_p.I398I|PLCH1_ENST00000334686.6_Silent_p.I380I|PLCH1_ENST00000494598.1_Silent_p.I398I			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	398	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGCTGCTGGATACTGCAGT	0.478000													16	95					0	0	1	0	0
UBE2T	29089	broad.mit.edu	37	1	202301067	202301067	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:202301067C>T	ENST00000367274.4	-	7	639	c.490G>A	c.(490-492)Gat>Aat	p.D164N		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	164					DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|skin(1)	5						GGTAGATTATCAAGCATCTCT	0.423000													37	104					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27406875	27406875	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:27406875G>A	ENST00000379214.4	-	5	985	c.542C>T	c.(541-543)gCg>gTg	p.A181V	LGR4_ENST00000480977.2_Missense_Mutation_p.A133V|LGR4_ENST00000389858.4_Missense_Mutation_p.A157V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	181						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CAGGGTCAGCGCCTGTAGGGT	0.498000													113	21					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159858170	159858170	+	Missense_Mutation	SNP	G	G	T	rs145313899		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:159858170G>T	ENST00000426543.2	-	4	589	c.134C>A	c.(133-135)gCc>gAc	p.A45D	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.A130D			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	130						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CTTCTTGAAGGCCTGGTCCCT	0.537000													23	84					1.42536e-11	1.56641e-11	1	1	0
CDH12	1010	broad.mit.edu	37	5	21755799	21755799	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:21755799C>A	ENST00000382254.1	-	14	2872	c.1786G>T	c.(1786-1788)Ggc>Tgc	p.G596C	CDH12_ENST00000522262.1_Missense_Mutation_p.G556C|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.G596C	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	596	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGGATGGTGCCATCAGAGTCA	0.433000										HNSCC(59;0.17)			49	58					2.64514e-33	3.22615e-33	1	1	0
CALB1	793	broad.mit.edu	37	8	91081457	91081457	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:91081457G>T	ENST00000265431.3	-	4	421	c.240C>A	c.(238-240)caC>caA	p.H80Q	CALB1_ENST00000518457.1_Missense_Mutation_p.H23Q	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	80	EF-hand 2.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGGGTAATACGTGAGCCAACT	0.428000													36	38					1.04594e-18	1.22607e-18	1	1	0
C3P1	388503	broad.mit.edu	37	19	10163264	10163264	+	RNA	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:10163264G>A	ENST00000495140.1	+	0	1523																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						ACCCGACACGGAGGCGGAAGT	0.562000													41	71					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1													p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731000													4	75					1.23904e-05	1.30068e-05	1	1	0
SPPL2B	56928	broad.mit.edu	37	19	2353008	2353008	+	RNA	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:2353008C>G	ENST00000452401.2	+	0	1720				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAAAGACTCTGCCACGCCA	0.657000													12	34					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42853779	42853779	+	Silent	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:42853779C>G	ENST00000334370.4	+	13	2861	c.2226C>G	c.(2224-2226)ctC>ctG	p.L742L	MEGF8_ENST00000251268.6_Silent_p.L809L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	809						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGGGCCAGCTCAATGGCTCGG	0.652000													21	79					0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35524463	35524463	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:35524463G>A	ENST00000262631.5	+	3	405	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	SCN1B_ENST00000415950.3_Missense_Mutation_p.V90M|SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000596348.1_3'UTR	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	90	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CGAGGGCCGCGTGGTGTGGAA	0.597000													149	133					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67081264	67081264	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:67081264G>T	ENST00000284425.2	-	32	4263	c.4089C>A	c.(4087-4089)aaC>aaA	p.N1363K	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1363	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCCACAGCACGTTCTCTTGAG	0.537000													5	22					5.9392e-07	6.32915e-07	1	1	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													3	5					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76501402	76501402	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr16:76501402C>G	ENST00000307431.8	+	11	2019	c.1634C>G	c.(1633-1635)tCa>tGa	p.S545*	CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.S497*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.S473*|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.S549*|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	546	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGATAGACTCATGTGGCATC	0.413000													18	76					0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41533025	41533025	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr13:41533025T>C	ENST00000239882.3	-	3	514	c.200A>G	c.(199-201)gAt>gGt	p.D67G	ELF1_ENST00000442101.1_Missense_Mutation_p.D67G|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	67					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TTCAGCAACATCCAGTGAACT	0.458000													46	114					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547598	125547598	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:125547598C>T	ENST00000431078.1	+	18	3233	c.2869C>T	c.(2869-2871)Ccc>Tcc	p.P957S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	957	EGF-like 2.			PGHCSS -> SIKKLK (in Ref. 4; BAB71205).	cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCCAGGCTGCCCCGGCCACTG	0.542000													18	63					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37169105	37169105	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:37169105G>A	ENST00000274258.7	-	34	7248	c.3661C>T	c.(3661-3663)Cta>Tta	p.L1221L	C5orf42_ENST00000425232.2_Silent_p.L2341L|C5orf42_ENST00000508244.1_Silent_p.L2341L			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2341										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACATCAAATAGTTTTTCTGGT	0.373000													79	92					0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35434432	35434432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:35434432G>A	ENST00000439785.1	+	5	1009	c.565G>A	c.(565-567)Ggc>Agc	p.G189S	ZNF30_ENST00000303586.7_Missense_Mutation_p.G189S|ZNF30_ENST00000601142.1_Missense_Mutation_p.G188S|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.G107S	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CTTTATCAGTGGCTCAGCCTT	0.398000													7	32					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20828521	20828521	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:20828521C>T	ENST00000601440.1	-	3	341	c.195G>A	c.(193-195)atG>atA	p.M65I	ZNF626_ENST00000291750.6_Missense_Mutation_p.M65I|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	65	KRAB.		M -> T (in dbSNP:rs8106117).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CATTTCTCTTCATGGTCAAAG	0.388000													19	91					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	32					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12247785	12247785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:12247785C>T	ENST00000256194.4	+	14	2044	c.1756C>T	c.(1756-1758)Cga>Tga	p.R586*	MICAL2_ENST00000527546.1_Nonsense_Mutation_p.R586*|MICAL2_ENST00000537344.1_Nonsense_Mutation_p.R586*|MICAL2_ENST00000342902.5_Nonsense_Mutation_p.R586*|MICAL2_ENST00000379612.3_Nonsense_Mutation_p.R586*	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	586	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGTGGCCGAGCGAGAGTTTGG	0.493000													13	82					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49408029	49408029	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:49408029G>A	ENST00000274813.3	-	11	1973	c.1846C>T	c.(1846-1848)Cgt>Tgt	p.R616C		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	616	B12-binding.		R -> C (in MMAM; mut0).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAAGAAGACGAGGTCTGCGA	0.378000													29	68					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103243886	103243886	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:103243886C>T	ENST00000428762.1	-	24	3357	c.3198G>A	c.(3196-3198)ccG>ccA	p.P1066P	RELN_ENST00000343529.5_Silent_p.P1066P|RELN_ENST00000424685.2_Silent_p.P1066P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1066					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAATTGTGGACGGAAGGGCAG	0.517000													47	50					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121170426	121170426	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:121170426C>T	ENST00000297848.3	+	3	416	c.146C>T	c.(145-147)tCa>tTa	p.S49L	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.S49L|COL14A1_ENST00000247781.3_Missense_Mutation_p.S49L|COL14A1_ENST00000537875.1_Missense_Mutation_p.S49L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	49	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATACAGATTTCATGGAAGGCT	0.348000													19	77					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90499850	90499850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr9:90499850G>A	ENST00000325643.5	+	4	514	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GCTCGCTGGCGAAGGCAGCTC	0.652000													52	14					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141764209	141764209	+	Silent	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:141764209G>C	ENST00000475668.2	+	37	4425	c.4371G>C	c.(4369-4371)ctG>ctC	p.L1457L	MGAM_ENST00000549489.2_Silent_p.L1457L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1457	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACAGGGGCCTGAGCAGCAAGA	0.567000													8	9					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011501	105011501	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:105011501C>T	ENST00000372582.1	+	11	2664	c.1908C>T	c.(1906-1908)ggC>ggT	p.G636G	IL1RAPL2_ENST00000344799.4_Silent_p.G636G|IL1RAPL2_ENST00000538500.1_Silent_p.G241G	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	636					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTCCTTAGGCAACCACCATA	0.463000													96	10					0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19970896	19970896	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr20:19970896A>G	ENST00000255006.6	+	9	2305	c.2156A>G	c.(2155-2157)aAg>aGg	p.K719R	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.K237R	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	670	VPS9.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CCGGAAAAGAAGGTCATGCTG	0.547000													9	19					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200298144	200298144	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:200298144C>T	ENST00000417098.1	-	3	1079	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	SATB2_ENST00000428695.1_Missense_Mutation_p.R88Q|SATB2_ENST00000457245.1_Missense_Mutation_p.R88Q|SATB2_ENST00000443023.1_Intron|SATB2_ENST00000260926.5_Missense_Mutation_p.R88Q	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	88						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACATCTTTCCGCACCAGGAC	0.537000													16	250					0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73519760	73519762	+	In_Frame_Del	DEL	GCG	GCG	-	rs35980039	byFrequency	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:73519760_73519762delGCG	ENST00000545030.1	-	2	667_669	c.593_595delCGC	c.(592-597)cac>c	p.PH198del	EGR4_ENST00000436467.2_In_Frame_Del_p.PH95del	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN	early growth response 4	94						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCCGGGTCGTGCGGGTGTTCGGG	0.660													9	25	---	---	---	---					
NCAPH	23397	broad.mit.edu	37	2	97034730	97034730	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:97034730delA	ENST00000455200.1	+	16	2281	c.1986delA	c.(1984-1986)ggfs	p.G662fs	NCAPH_ENST00000427946.1_Frame_Shift_Del_p.G537fs|NCAPH_ENST00000240423.4_Frame_Shift_Del_p.G673fs			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	673					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GGGAAGCTGGAAAAGAAGCGG	0.527													2	4	---	---	---	---					
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcfs	p.S143fs	FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418													8	312	---	---	---	---					
MAML3	55534	broad.mit.edu	37	4	140811064	140811069	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs71855026		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:140811064_140811069delTGCTGC	ENST00000509479.2	-	2	2377_2382	c.1521_1526delGCAGCA	c.(1519-1527)caa>ca	p.QQQ507del	MAML3_ENST00000398940.1_Splice_Site_p.37_splice|MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	506	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgct	0.515													12	114	---	---	---	---					
NRM	11270	broad.mit.edu	37	6	30658718	30658718	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:30658718delG	ENST00000259953.4	-	2	385	c.34delC	c.(34-36)tcfs	p.L12fs	NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376421.5_Frame_Shift_Del_p.L12fs|NRM_ENST00000376420.5_Frame_Shift_Del_p.L12fs	NM_001270707.1	NP_001257636.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	12						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						AAAGAGGCGAGGGCAGCAGGG	0.672													17	42	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000337523.5_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													7	300	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-57)gaafs	p.E19fs	DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000337523.5_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													9	252	---	---	---	---					
CASP8AP2	9994	broad.mit.edu	37	6	90572112	90572146	+	RNA	DEL	ACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAA	ACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAA	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:90572112_90572146delACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAA	ENST00000551025.1	+	0	2121_2155							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GTGTTTGGTCACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAAATGAGGATAG	0.404													8	224	---	---	---	---					
TBP	6908	broad.mit.edu	37	6	170871038	170871040	+	In_Frame_Del	DEL	CAA	CAA	-	rs10592950		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:170871038_170871040delCAA	ENST00000392092.2	+	3	493_495	c.214_216delCAA	c.(214-216)del	p.Q95del	TBP_ENST00000540980.1_In_Frame_Del_p.Q75del|TBP_ENST00000230354.6_In_Frame_Del_p.Q95del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing.		cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcagcagcagcaacagcaacagc	0.567													13	60	---	---	---	---					
COL22A1	169044	broad.mit.edu	37	8	139890006	139890007	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:139890006_139890007delGC	ENST00000303045.6	-	3	1090_1091	c.644_645delGC	c.(643-645)cfs	p.R216fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.R216fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	216					cell adhesion	collagen|cytoplasm	structural molecule activity	p.R215H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CACAAAGACGGCGCCGCAGCTT	0.653										HNSCC(7;0.00092)			52	79	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													7	28	---	---	---	---					
SLC39A12	221074	broad.mit.edu	37	10	18276472	18276472	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:18276472delG	ENST00000377369.2	+	7	1434	c.1161delG	c.(1159-1161)ctfs	p.L387fs	SLC39A12_ENST00000377371.3_Frame_Shift_Del_p.L387fs|SLC39A12_ENST00000377374.4_Frame_Shift_Del_p.L387fs|SLC39A12_ENST00000539911.1_Frame_Shift_Del_p.L253fs	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	387					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGACAGCGCTGGTCCTTTTCC	0.552													65	19	---	---	---	---					
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285																											CAGCACCCCATGGGGGGGCCCT	0.500													7	4	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs113304321	by1000genomes	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8287-8292)caagca>caCAGagca	p.2763_2763Q>HR	EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564													23	94	---	---	---	---					
ZNF268	10795	broad.mit.edu	37	12	133780276	133780307	+	Frame_Shift_Del	DEL	TGGATGCAGTCAATGTGCAAAAACCTTTAGTT	TGGATGCAGTCAATGTGCAAAAACCTTTAGTT	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:133780276_133780307delTGGATGCAGTCAATGTGCAAAAACCTTTAGTT	ENST00000536435.2	+	6	2334_2365	c.2004_2035delTGGATGCAGTCAATGTGCAAAAACCTTTAGTT	c.(2002-2037)tatgfs	p.YGCSQCAKTFSL668fs	ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.YGCSQCAKTFSL507fs|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.YGCSQCAKTFSL668fs|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	668						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TAAAACCCTATGGATGCAGTCAATGTGCAAAAACCTTTAGTTTGAAGTCCCA	0.418													4	6	---	---	---	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)acc>ac	p.TL5del	LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	5					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.670													7	177	---	---	---	---					
BRICD5	283870	broad.mit.edu	37	16	2260243	2260243	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr16:2260243delG	ENST00000328540.3	-	3	1336	c.220delC	c.(220-222)acfs	p.H74fs	BRICD5_ENST00000566018.1_Frame_Shift_Del_p.H74fs|BRICD5_ENST00000562360.1_Frame_Shift_Del_p.H74fs	NM_182563.3	NP_872369.2			BRICHOS domain containing 5																		CGGGGCATGTGGGGGCTCGGG	0.667													2	4	---	---	---	---					
RABEP1	9135	broad.mit.edu	37	17	5268514	5268515	+	Frame_Shift_Ins	INS	-	-	CGAAGATT			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:5268514_5268515insCGAAGATT	ENST00000262477.6	+	11	1990_1991	c.1766_1767insCGAAGATT	c.(1765-1767)agafs	p.R589fs	RABEP1_ENST00000546142.2_Frame_Shift_Ins_p.R589fs|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000537505.1_Frame_Shift_Ins_p.R546fs|RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000408982.2_Frame_Shift_Ins_p.R589fs|RABEP1_ENST00000341923.6_Frame_Shift_Ins_p.R589fs	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	589					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AAGCAAAGCAGCGAAGATTCGA	0.406													8	176	---	---	---	---					
MYH10	4628	broad.mit.edu	37	17	8397095	8397097	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:8397095_8397097delCCT	ENST00000360416.3	-	32	4301_4303	c.4163_4165delAGG	c.(4162-4167)gcc>g	p.EA1388del	MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del|MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1357					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCTTCCTGGCCTCCTCCTCCTC	0.596													7	167	---	---	---	---					
B3GNT3	10331	broad.mit.edu	37	19	17918790	17918802	+	Frame_Shift_Del	DEL	GGCCCCGTGCCAT	GGCCCCGTGCCAT	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:17918790_17918802delGGCCCCGTGCCAT	ENST00000318683.6	+	2	321_333	c.174_186delGGCCCCGTGCCAT	c.(172-186)ccfs	p.PAPCH58fs	B3GNT3_ENST00000595387.1_Frame_Shift_Del_p.PAPCH58fs	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	58					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCCCAGCCCCGGCCCCGTGCCATGCCAACACCT	0.671													9	28	---	---	---	---					
GLTSCR1	29998	broad.mit.edu	37	19	48184019	48184019	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:48184019delC	ENST00000396720.3	+	6	1786	c.1592delC	c.(1591-1593)gcfs	p.A531fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	531							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCGTGTTGGCCCCCCACTCC	0.721													74	88	---	---	---	---					
EPS8L1	54869	broad.mit.edu	37	19	55597804	55597804	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:55597804delT	ENST00000201647.6	+	17	1751	c.1695delT	c.(1693-1695)ccfs	p.P566fs	EPS8L1_ENST00000540810.1_Frame_Shift_Del_p.P502fs|EPS8L1_ENST00000588359.1_Frame_Shift_Del_p.P252fs|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000245618.5_Frame_Shift_Del_p.P439fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	566	Pro-rich.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		cggccccacctccagcTCTGG	0.672													2	4	---	---	---	---					
SGSM1	129049	broad.mit.edu	37	22	25294221	25294223	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr22:25294221_25294223delGAT	ENST00000400358.4	+	19	2362_2364	c.2305_2307delGAT	c.(2305-2307)del	p.D769del	SGSM1_ENST00000400359.4_In_Frame_Del_p.D824del	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	824	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CACATCTCAGGATGAGGCTCCCC	0.645													22	17	---	---	---	---					
SGSM3	27352	broad.mit.edu	37	22	40803492	40803494	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr22:40803492_40803494delCGG	ENST00000248929.9	+	13	1633_1635	c.1444_1446delCGG	c.(1444-1446)del	p.R484del	SGSM3_ENST00000454798.2_In_Frame_Del_p.R417del	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	484	SH3.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						ACGCAGCCACCGGCGCCGAGCCA	0.640													21	44	---	---	---	---					
