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
PCDHA3	56145	broad.mit.edu	37	5	140182973	140182973	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140182973G>A	ENST00000522353.2	+	1	2191	c.2191G>A	c.(2191-2193)Gac>Aac	p.D731N	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D731N|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCGAAGGCGACTGTGGGCC	0.642000													82	72					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541884	133541884	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:133541884C>T	ENST00000409261.1	-	14	2873	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E834K|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	834							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGTGATTTTTCAAGAGTCACC	0.483000													78	72					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51217544	51217544	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:51217544C>T	ENST00000293441.1	-	4	553	c.535G>A	c.(535-537)Ggg>Agg	p.G179R	SHANK1_ENST00000359082.3_Missense_Mutation_p.G179R|SHANK1_ENST00000391814.1_Missense_Mutation_p.G179R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	179					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TTCTTCAACCCCGTCTGAGCC	0.557000													7	25					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2820757	2820757	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:2820757G>A	ENST00000520002.1	-	61	9999	c.9444C>T	c.(9442-9444)atC>atT	p.I3148I	CSMD1_ENST00000400186.3_Silent_p.I2971I|CSMD1_ENST00000602557.1_Silent_p.I3148I|CSMD1_ENST00000602723.1_Silent_p.I2971I|CSMD1_ENST00000542608.1_Silent_p.I2970I|CSMD1_ENST00000537824.1_Silent_p.I3147I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3148	Sushi 25.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GACACTGGGGGATCTCTCCTT	0.552000													82	77					0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125919676	125919676	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:125919676A>G	ENST00000409134.3	-	4	560	c.341T>C	c.(340-342)gTa>gCa	p.V114A	ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.V141A|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.V114A	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	114					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	AATCTGTCTTACTATTTCTCC	0.358000													38	50					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597581	136597581	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:136597581G>A	ENST00000531224.1	-	5	1334	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S359L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S361L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S359L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S359L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	361					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTCTCTTTTGAAGCCTCTTT	0.423000													49	84					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137630613	137630613	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:137630613A>G	ENST00000371817.3	+	11	1867	c.1453A>G	c.(1453-1455)Acc>Gcc	p.T485A		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	485	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACCTCCAGGAACCATGGGTCC	0.562000													11	67					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38840840	38840840	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:38840840G>A	ENST00000359357.3	+	49	6999	c.6745G>A	c.(6745-6747)Gag>Aag	p.E2249K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E2213K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E2466K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCACAATATCGAGAACGCCTC	0.488000													95	65					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433458	140433458	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140433458G>A	ENST00000306549.3	+	1	2480	c.2403G>A	c.(2401-2403)agG>agA	p.R801R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		801					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCTGATAGGAATAAGTCTC	0.438000													40	42					0	0	1	0	0
CLCC1	23155	broad.mit.edu	37	1	109486637	109486637	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:109486637T>A	ENST00000369971.2	-	5	511	c.382A>T	c.(382-384)Atc>Ttc	p.I128F	AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369976.1_Missense_Mutation_p.I128F|CLCC1_ENST00000415331.1_Intron|CLCC1_ENST00000369968.2_Intron|CLCC1_ENST00000369969.2_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.I128F|CLCC1_ENST00000348264.2_Intron|CLCC1_ENST00000302500.4_Intron|CLCC1_ENST00000369970.3_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	128						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CTTTTAAGGATAATCTCAGCA	0.313000													6	8					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193039582	193039582	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:193039582G>A	ENST00000342358.4	-	16	1920	c.1803C>T	c.(1801-1803)tcC>tcT	p.S601S		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	601					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GCAGGCTCGAGGAAAATGGAA	0.498000													31	42					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232581413	232581413	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:232581413G>A	ENST00000366630.1	-	10	3573	c.3215C>T	c.(3214-3216)cCt>cTt	p.P1072L	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P1072L|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.P146L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1072					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGCAGGGCAGGAGTGGGCAC	0.647000													39	97					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884296	228884296	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:228884296C>T	ENST00000392056.3	-	7	1320	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G425E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	425			G -> R (in dbSNP:rs4283414).			cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGAGAACTTCCTACAGAAAC	0.448000													23	78					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058354	53058354	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:53058354C>T	ENST00000359798.4	+	5	2365	c.2185C>T	c.(2185-2187)Cat>Tat	p.H729Y		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCGTAGAATTCATAGTGGTGA	0.428000													102	127					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121930446	121930446	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:121930446C>T	ENST00000265922.3	-	8	1663	c.1202G>A	c.(1201-1203)gGg>gAg	p.G401E	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		401					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TCCCCAAAACCCATTCTCATT	0.562000													9	25					0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45981331	45981331	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:45981331C>T	ENST00000260324.7	+	9	1597	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	SQRDL_ENST00000568606.1_Missense_Mutation_p.P404L	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	404							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GAAACCTTCCCCTTTGATCAA	0.458000													43	6					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125113392	125113392	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:125113392C>T	ENST00000522917.1	+	38	5144	c.4938C>T	c.(4936-4938)tcC>tcT	p.S1646S	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.S1646S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1646	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATTACAACTCCCTGACTGGAG	0.438000													40	141					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179442511	179442511	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:179442511C>T	ENST00000589042.1	-	323	68866	c.68642G>A	c.(68641-68643)cGa>cAa	p.R22881Q	TTN_ENST00000342992.6_Missense_Mutation_p.R20313Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R21240Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R14008Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13816Q|TTN_ENST00000359218.5_Missense_Mutation_p.R13941Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21240	Fibronectin type-III 66.						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)			AGGTAGATCTCGCTTCTCCAC	0.398000													34	92					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111296389	111296389	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:111296389G>A	ENST00000283285.5	+	4	715	c.584G>A	c.(583-585)gGt>gAt	p.G195D	CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	195	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CTTTCTAAGGGTATAAAGGTA	0.388000									Opitz Trigonocephaly syndrome				50	75					0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113703853	113703853	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:113703853T>C	ENST00000374431.3	-	4	1024	c.641A>G	c.(640-642)aAc>aGc	p.N214S	LPAR1_ENST00000358883.4_Missense_Mutation_p.N214S|LPAR1_ENST00000541779.1_Missense_Mutation_p.N215S|LPAR1_ENST00000374430.2_Missense_Mutation_p.N214S|LPAR1_ENST00000538760.1_Missense_Mutation_p.N215S	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	214					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GGTCACCAAGTTGAAAATGGC	0.468000													90	55					0	0	1	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41442040	41442040	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:41442040G>A	ENST00000599198.1	+	0	264					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CGGTACACCTGGGACCGAGGC	0.552000													24	19					0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67037200	67037200	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:67037200G>A	ENST00000540947.2	+	7	1021	c.837G>A	c.(835-837)caG>caA	p.Q279Q	CES4A_ENST00000326686.5_Silent_p.Q279Q|CES4A_ENST00000535696.1_Silent_p.Q185Q|CES4A_ENST00000338718.4_Silent_p.Q302Q|CES4A_ENST00000540579.1_Silent_p.Q181Q|CES4A_ENST00000541479.1_Silent_p.Q302Q|CES4A_ENST00000398354.1_Silent_p.Q279Q	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	279						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						ACAGCACACAGATCCTGGTAA	0.542000													32	35					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123914909	123914909	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:123914909G>T	ENST00000373855.1	+	26	4370	c.4110G>T	c.(4108-4110)aaG>aaT	p.K1370N	CNTRL_ENST00000373850.1_Missense_Mutation_p.K818N|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.K1370N|CNTRL_ENST00000373847.1_Missense_Mutation_p.K818N			Q7Z7A1	CNTRL_HUMAN	centriolin	1370					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TGCAAGAGAAGAAAAGCTTAG	0.358000													23	81					8.58068e-18	8.67309e-18	1	1	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187609	37187609	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:37187609C>T	ENST00000425901.2	+	0	1451					NR_033753.2																						AACTTAGCCTCCTAAGGAAGT	0.512000													23	44					0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101733713	101733713	+	Silent	SNP	C	C	T	rs148248545		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:101733713C>T	ENST00000318607.5	-	1	1227	c.99G>A	c.(97-99)ccG>ccA	p.P33P	PABPC1_ENST00000519004.1_Intron|PABPC1_ENST00000522387.1_Silent_p.P33P	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	33	RRM 1.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGGGCCCGGCCGGGCTGAACT	0.662000													130	40					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117685231	117685231	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:117685231C>T	ENST00000317775.6	-	18	3430	c.2745G>A	c.(2743-2745)agG>agA	p.R915R	NOS1_ENST00000338101.4_Silent_p.R949R|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	915	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCTTCAGGATCCTCTCCCCTC	0.557000													66	50					0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150679133	150679133	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:150679133C>T	ENST00000368993.2	-	10	805	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	HORMAD1_ENST00000322343.7_Missense_Mutation_p.E227K|HORMAD1_ENST00000368995.4_Missense_Mutation_p.E154K|HORMAD1_ENST00000361824.2_Missense_Mutation_p.E234K			Q86X24	HORM1_HUMAN	HORMA domain containing 1	234					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCAATATTTTCCATTCGTTCT	0.343000													41	106					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062960	76062960	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:76062960C>T	ENST00000416245.1	+	3	1274	c.181C>T	c.(181-183)Cat>Tat	p.H61Y	ZP3_ENST00000394857.3_Missense_Mutation_p.H237Y|ZP3_ENST00000336517.4_Missense_Mutation_p.H186Y			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	237	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CGTGGACTTCCATGGGTGAGC	0.557000													61	130					0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29028999	29028999	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:29028999G>A	ENST00000373816.1	+	7	786	c.648G>A	c.(646-648)ggG>ggA	p.G216G	GMEB1_ENST00000294409.2_Silent_p.G226G|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Silent_p.G216G	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		AAGAGGCAGGGCTGGAATGGA	0.468000													47	46					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2542649	2542649	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:2542649G>A	ENST00000358864.1	+	4	562	c.547G>A	c.(547-549)Gag>Aag	p.E183K		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	183	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAAGCTGACAGAGCTCAGGTG	0.602000													14	12					0	0	1	0	0
CWC25	54883	broad.mit.edu	37	17	36966766	36966766	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:36966766G>A	ENST00000225428.4	-	5	878	c.581C>T	c.(580-582)tCg>tTg	p.S194L	CWC25_ENST00000536127.1_Missense_Mutation_p.S131L	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	194										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ATCACTACTCGAGCTTCTGTG	0.468000													4	13					0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82523261	82523261	+	Silent	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:82523261T>C	ENST00000268206.7	-	8	951	c.783A>G	c.(781-783)gaA>gaG	p.E261E	EFTUD1_ENST00000359445.3_Silent_p.E210E|EFTUD1_ENST00000561331.1_5'UTR	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	261					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCATAAGAACTTCCTTTTTGA	0.338000													41	48					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213398	9213398	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9213398G>A	ENST00000305456.2	-	1	584	c.585C>T	c.(583-585)atC>atT	p.I195I		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGAAGAGCGGGATTTCCAGGT	0.478000													44	43					0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76868897	76868897	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:76868897G>A	ENST00000372702.3	-	1	82	c.19C>T	c.(19-21)Cca>Tca	p.P7S	DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.P7S			Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	7						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCCAGCTCTGGGAGAGAGGTC	0.627000													14	30					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124392774	124392774	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:124392774G>A	ENST00000368909.3	+	49	6184	c.6078G>A	c.(6076-6078)ggG>ggA	p.G2026G	DMBT1_ENST00000330163.4_Silent_p.G1398G|DMBT1_ENST00000338354.3_Silent_p.G2026G|DMBT1_ENST00000368956.2_Silent_p.G1398G|DMBT1_ENST00000344338.3_Silent_p.G2016G|DMBT1_ENST00000368955.3_Silent_p.G2016G|DMBT1_ENST00000359586.6_Silent_p.G746G	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2026	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTATCCCGGGAACTATCCAA	0.502000													98	75					0	0	1	0	0
ZNF501	115560	broad.mit.edu	37	3	44776311	44776311	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:44776311C>T	ENST00000396048.2	+	3	835	c.398C>T	c.(397-399)cCa>cTa	p.P133L		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		GGAGAGAAACCATATAAATGT	0.393000													29	50					0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66199958	66199958	+	Silent	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:66199958T>C	ENST00000360689.5	+	10	2996	c.1269T>C	c.(1267-1269)aaT>aaC	p.N423N	FUT8_ENST00000394586.2_Silent_p.N423N|FUT8_ENST00000394585.1_Silent_p.N423N|FUT8_ENST00000557164.1_Silent_p.N260N|FUT8_ENST00000358307.2_Silent_p.N294N|FUT8_ENST00000417683.1_Silent_p.N17N	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	423					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GGTACCCCAATTATGAATTTA	0.358000													14	10					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54074910	54074910	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:54074910C>T	ENST00000253144.9	+	6	1395	c.62C>T	c.(61-63)gCc>gTc	p.A21V	ZNF331_ENST00000511154.1_Missense_Mutation_p.A21V|ZNF331_ENST00000513265.1_Missense_Mutation_p.A21V|ZNF331_ENST00000411977.2_Missense_Mutation_p.A21V|ZNF331_ENST00000512387.1_Missense_Mutation_p.A21V|ZNF331_ENST00000511593.2_Missense_Mutation_p.A21V|ZNF331_ENST00000449416.1_Missense_Mutation_p.A21V|ZNF331_ENST00000513999.1_Missense_Mutation_p.A21V	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GAGGAGTGGGCCTGTCTGAAC	0.502000			T	?	follicular thyroid adenoma								121	121					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957747	111957747	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:111957747G>A	ENST00000369732.3	-	11	1431	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	459					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CTTTCCAAGGGATACAGTTTC	0.502000													36	53					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26343750	26343750	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:26343750G>A	ENST00000335473.7	+	36	5954	c.5704G>A	c.(5704-5706)Gac>Aac	p.D1902N	MYO18B_ENST00000407587.2_Missense_Mutation_p.D1903N|MYO18B_ENST00000536101.1_Missense_Mutation_p.D1902N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1902	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGACCAGGATGACCTGAATGA	0.562000													34	38					0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130943047	130943047	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:130943047G>A	ENST00000538431.1	-	6	882	c.635C>T	c.(634-636)cCa>cTa	p.P212L	CIZ1_ENST00000325721.8_Missense_Mutation_p.P183L|CIZ1_ENST00000393608.1_Missense_Mutation_p.P212L|CIZ1_ENST00000541172.1_Missense_Mutation_p.P111L|CIZ1_ENST00000372948.3_Missense_Mutation_p.P212L|CIZ1_ENST00000372954.1_Missense_Mutation_p.P188L|CIZ1_ENST00000277465.4_Missense_Mutation_p.P212L|CIZ1_ENST00000372938.5_Missense_Mutation_p.P212L|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000357558.5_Missense_Mutation_p.P212L	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	212						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGACCCCTCTGGGGGGTCTGA	0.562000													26	65					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648259	41648259	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:41648259G>A	ENST00000313860.7	+	11	1272	c.1218G>A	c.(1216-1218)agG>agA	p.R406R	LIMCH1_ENST00000503057.1_Silent_p.R791R|LIMCH1_ENST00000513024.1_Silent_p.R235R|LIMCH1_ENST00000508501.1_Silent_p.R406R|LIMCH1_ENST00000514096.1_Silent_p.R247R|LIMCH1_ENST00000512632.1_Silent_p.R406R|LIMCH1_ENST00000509277.1_Silent_p.R240R|LIMCH1_ENST00000511496.1_Silent_p.R247R|LIMCH1_ENST00000381753.4_Silent_p.R240R|LIMCH1_ENST00000396595.3_Silent_p.R252R|LIMCH1_ENST00000512946.1_Silent_p.R406R|LIMCH1_ENST00000512820.1_Silent_p.R394R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	406					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTGAACGAAGGAAAAGCATCA	0.343000													19	21					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18329178	18329178	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:18329178G>A	ENST00000355502.3	-	14	2067	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	PDE4C_ENST00000539010.1_Missense_Mutation_p.S168F|PDE4C_ENST00000594617.2_Missense_Mutation_p.S399F|PDE4C_ENST00000594465.2_Missense_Mutation_p.S399F|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000447275.2_Missense_Mutation_p.S293F|PDE4C_ENST00000262805.11_Missense_Mutation_p.S367F			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	399					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CACATGCGTGGACTGGGCCAC	0.662000													91	75					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41571142	41571142	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:41571142C>T	ENST00000262415.3	+	8	1172	c.1100C>T	c.(1099-1101)cCt>cTt	p.P367L	DHX8_ENST00000540306.1_Missense_Mutation_p.P367L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	367						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATGCGGAATCCTGATAGACCC	0.522000													83	113					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55805451	55805451	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:55805451C>T	ENST00000309383.1	+	5	802	c.525C>T	c.(523-525)ttC>ttT	p.F175F	BRSK1_ENST00000590333.1_Silent_p.F191F|BRSK1_ENST00000585418.1_Silent_p.F175F	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	175	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TTGCAGACTTCGGCATGGCGT	0.607000													143	180					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193081933	193081933	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:193081933G>A	ENST00000342358.4	-	2	317	c.200C>T	c.(199-201)cCc>cTc	p.P67L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	67					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCTTGCAAGGGGCATGGGAT	0.537000													123	139					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39767696	39767696	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:39767696G>A	ENST00000301653.4	-	3	736	c.672C>T	c.(670-672)cgC>cgT	p.R224R		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	224	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCAACACCCGGCGCAGGCCAT	0.627000													57	57					0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241835228	241835228	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:241835228G>A	ENST00000388934.4	-	1	345	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C		NM_001085437.1	NP_001078906.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	63										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		TCCAGGCCACGGGAGTAGTCC	0.662000													24	38					0	0	1	0	0
NPPA	4878	broad.mit.edu	37	1	11907313	11907313	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:11907313C>T	ENST00000376480.3	-	2	405	c.307G>A	c.(307-309)Gac>Aac	p.D103N	NPPA_ENST00000376476.1_Missense_Mutation_p.D53N|NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	103					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGAGGAGTCCCAGGGGCCC	0.682000													18	28					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088309	86088309	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:86088309G>A	ENST00000330753.4	+	2	1218	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	FLRT2_ENST00000554746.1_Missense_Mutation_p.E151K	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	151					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGTGGGGGTGGAAGACGGGGC	0.507000													26	22					0	0	1	0	0
XAGE3	170626	broad.mit.edu	37	X	52896162	52896162	+	Translation_Start_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:52896162C>T	ENST00000346279.3	-	2	73	c.3G>A	c.(1-3)atG>atA	p.M1I	XAGE3_ENST00000375491.3_Start_Codon_SNP_p.M1I	NM_133179.2	NP_573440.1	Q8WTP9	GAGD4_HUMAN	X antigen family, member 3	1										kidney(1)|large_intestine(1)|lung(2)	4						CTCGCCAAATCATATTTCACA	0.418000													53	4					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92623992	92623992	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:92623992C>T	ENST00000298047.6	+	27	13500	c.13483C>T	c.(13483-13485)Cct>Tct	p.P4495S	FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000533797.1_Missense_Mutation_p.P798S|FAT3_ENST00000525166.1_Missense_Mutation_p.P4345S|FAT3_ENST00000409404.2_Missense_Mutation_p.P4463S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4495	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAGTATCTCCCTCCTCACCC	0.587000										TCGA Ovarian(4;0.039)			25	40					0	0	1	0	0
GPR31	2853	broad.mit.edu	37	6	167570909	167570909	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:167570909G>A	ENST00000366834.1	-	1	908	c.411C>T	c.(409-411)ctC>ctT	p.L137L		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	137						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GGAGCCAGACGAGGCCCGAGA	0.662000													12	0					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868507	150868507	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:150868507G>A	ENST00000370353.3	+	3	437	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	PRRG3_ENST00000538575.1_Missense_Mutation_p.R16Q|PRRG3_ENST00000370354.1_Missense_Mutation_p.R24Q			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	16						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTGAAACGATTCCCTCGT	0.587000													37	2					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802642	185802642	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:185802642C>A	ENST00000302277.6	+	4	3113	c.2519C>A	c.(2518-2520)tCt>tAt	p.S840Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	840						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAGACAATTCTTCCTTAAAT	0.363000													16	37					8.60227e-14	8.67489e-14	1	1	0
KNTC1	9735	broad.mit.edu	37	12	123097760	123097760	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:123097760A>T	ENST00000333479.7	+	54	5901	c.5724A>T	c.(5722-5724)aaA>aaT	p.K1908N	KNTC1_ENST00000450485.2_Missense_Mutation_p.K833N|KNTC1_ENST00000537348.1_Missense_Mutation_p.K333N|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1908					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCTTTAAAAAACCCATTGAAG	0.343000													24	25					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967534	81967534	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:81967534C>T	ENST00000282701.2	+	2	1279	c.959C>T	c.(958-960)cCt>cTt	p.P320L		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	320					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GAGAGAAAGCCTTACAAGACC	0.498000													16	13					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116418932	116418932	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:116418932G>A	ENST00000397752.3	+	17	3643	c.3443G>A	c.(3442-3444)cGa>cAa	p.R1148Q	MET_ENST00000318493.6_Missense_Mutation_p.R1166Q|MET_ENST00000539704.1_Missense_Mutation_p.R18Q	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1148	Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.R1166Q(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATCTGCCTGCGAAGTGAAGGG	0.448000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				41	103					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126398462	126398462	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:126398462C>T	ENST00000394329.3	+	13	12459	c.12446C>T	c.(12445-12447)gCt>gTt	p.A4149V	FAT4_ENST00000335110.5_Missense_Mutation_p.A2412V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4149	Laminin G-like 1.				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						CCCAGCCAAGCTTTGGCAGCA	0.413000													59	55					0	0	1	0	0
SNAP47	116841	broad.mit.edu	37	1	227935398	227935398	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:227935398G>A	ENST00000366759.4	+	2	510	c.96G>A	c.(94-96)caG>caA	p.Q32Q	SNAP47_ENST00000315781.5_Silent_p.Q32Q|SNAP47_ENST00000366760.1_Intron	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	32						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTCAGAGGCAGAAGAGGCCTG	0.602000													44	38					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84745186	84745186	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:84745186G>A	ENST00000372142.2	+	11	1599	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q	NRG3_ENST00000537893.1_Missense_Mutation_p.R289Q|NRG3_ENST00000404547.1_Missense_Mutation_p.R663Q|NRG3_ENST00000404576.2_Missense_Mutation_p.R443Q|NRG3_ENST00000556918.1_Missense_Mutation_p.R469Q|NRG3_ENST00000545131.1_Missense_Mutation_p.R289Q|NRG3_ENST00000372141.2_Missense_Mutation_p.R639Q	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	663					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAGCAGATCCGAATTCTGACT	0.483000													18	22					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27459993	27459993	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:27459993G>A	ENST00000337929.3	+	9	1479	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	IL21R_ENST00000395755.1_Missense_Mutation_p.E336K|IL21R_ENST00000395754.4_Missense_Mutation_p.E336K|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Missense_Mutation_p.E336K	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	336					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGAGCTACAAGAACCAGCAGA	0.657000			T	BCL6	NHL								19	35					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17955082	17955082	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:17955082A>C	ENST00000458235.1	-	2	244	c.145T>G	c.(145-147)Ttg>Gtg	p.L49V	JAK3_ENST00000527670.1_Missense_Mutation_p.L49V|JAK3_ENST00000534444.1_Missense_Mutation_p.L49V|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	49	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TCCTCAGCCAAGTGGTCCCCA	0.662000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								8	4					0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220286266	220286266	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:220286266G>A	ENST00000373960.3	+	6	1314	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	410	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAAGCTGCTGGAGGGAGAGGA	0.632000													63	36					0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34330060	34330060	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:34330060C>T	ENST00000522796.1	+	4	2173	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.P90S|HMGB4_ENST00000425537.1_3'UTR			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	90						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAAGCGGGATCCCCAGGAACC	0.522000													51	80					0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	107002836	107002836	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:107002836G>A	ENST00000393603.2	-	9	1229	c.958C>T	c.(958-960)Cca>Tca	p.P320S	COG5_ENST00000297135.3_Missense_Mutation_p.P320S|COG5_ENST00000347053.3_Missense_Mutation_p.P320S	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	320					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GTATTTCCTGGGGTTGGCATG	0.378000													9	31					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113249575	113249575	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:113249575G>A	ENST00000297405.5	-	67	10715	c.10471C>T	c.(10471-10473)Cct>Tct	p.P3491S	CSMD3_ENST00000343508.3_Missense_Mutation_p.P3451S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3322S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P3421S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3491						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACATCATCAGGAACTGTGAAT	0.289000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	65					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681060	3681060	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:3681060C>T	ENST00000250693.1	+	3	412	c.311C>T	c.(310-312)tCc>tTc	p.S104F		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	104					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	ACCCGTCCATCCCCGCCACCC	0.652000													21	23					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47367826	47367826	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:47367826C>T	ENST00000399249.2	-	11	1076	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	MYBPC3_ENST00000545968.1_Missense_Mutation_p.G341D|MYBPC3_ENST00000256993.4_Missense_Mutation_p.G341D			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	341					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GTCAGTGACGCCGTACTGGAA	0.617000													15	17					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44151446	44151446	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:44151446C>T	ENST00000542245.1	+	22	2177	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F	CAPN11_ENST00000398776.1_Silent_p.F713F			Q9UMQ6	CAN11_HUMAN	calpain 11	713	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACGCAGCATTCTTTCTAACCA	0.532000													38	21					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120349040	120349040	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:120349040C>T	ENST00000397843.2	+	37	3874	c.3708C>T	c.(3706-3708)atC>atT	p.I1236I	ARHGEF12_ENST00000532993.1_Silent_p.I1133I|ARHGEF12_ENST00000356641.3_Silent_p.I1217I	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1236					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AAATCGCAATCCCAGATTCAC	0.398000			T	MLL	AML								68	12					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103311700	103311700	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:103311700G>A	ENST00000520539.1	-	24	3788	c.3182C>T	c.(3181-3183)cCa>cTa	p.P1061L	UBR5_ENST00000521922.1_Missense_Mutation_p.P1055L|UBR5_ENST00000220959.4_Missense_Mutation_p.P1061L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1061					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GGAGGTGCTTGGTCCTTGACC	0.453000													42	105					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113700029	113700029	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:113700029G>A	ENST00000003302.4	-	10	1017	c.949C>T	c.(949-951)Cct>Tct	p.P317S	USP28_ENST00000544967.1_Missense_Mutation_p.P25S|USP28_ENST00000260188.5_Missense_Mutation_p.P317S|USP28_ENST00000537706.1_Missense_Mutation_p.P317S|USP28_ENST00000545540.1_Missense_Mutation_p.P192S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	317					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACCTGAAGAGGATACTGGCCG	0.443000													23	3					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44073774	44073774	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:44073774C>T	ENST00000344290.5	+	11	1893	c.1571C>T	c.(1570-1572)cCa>cTa	p.P524L	MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.P189L|MAPT_ENST00000576518.1_Missense_Mutation_p.P120L|MAPT_ENST00000446361.3_Missense_Mutation_p.P131L|MAPT_ENST00000262410.5_Missense_Mutation_p.P506L|MAPT_ENST00000431008.3_Missense_Mutation_p.P189L|MAPT_ENST00000420682.2_Missense_Mutation_p.P160L|MAPT_ENST00000334239.8_Missense_Mutation_p.P131L|MAPT_ENST00000415613.2_Missense_Mutation_p.P524L|MAPT_ENST00000351559.5_Missense_Mutation_p.P189L|MAPT_ENST00000340799.5_Missense_Mutation_p.P160L|MAPT_ENST00000574436.1_Missense_Mutation_p.P189L|MAPT_ENST00000347967.5_Missense_Mutation_p.P95L|MAPT_ENST00000571987.1_Missense_Mutation_p.P506L	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	506					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GGTGAACCTCCAAAATCAGGG	0.677000													22	4					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217580	150217580	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:150217580C>T	ENST00000313543.4	+	2	675	c.518C>T	c.(517-519)aCc>aTc	p.T173I		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	173							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAAGAAAACCAGTAAGGCA	0.488000													33	20					0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916005	42916005	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:42916005G>A	ENST00000316161.4	-	1	1628	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.S435L	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	435					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GGAAACGCCCGAACCCCAGGG	0.517000													44	68					0	0	1	0	0
NANOGP1	404635	broad.mit.edu	37	12	8050875	8050875	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:8050875C>T	ENST00000607111.1	+	0	278																				kidney(1)|lung(4)|prostate(1)	6						agacctggttccagaaccaga	0.363000													10	18					0	0	1	0	0
E2F4	1874	broad.mit.edu	37	16	67226217	67226217	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:67226217C>T	ENST00000379378.3	+	1	146	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	29					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CCACCAAGTTCGTGTCCCTTC	0.711000													7	8					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78796371	78796371	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:78796371G>A	ENST00000545128.1	+	16	2599	c.2061G>A	c.(2059-2061)agG>agA	p.R687R	PCSK5_ENST00000376752.4_Silent_p.R687R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	687	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGCGCTGCAGGAAGTGTGCCC	0.517000													37	71					0	0	1	0	0
SEPN1	57190	broad.mit.edu	37	1	26140457	26140457	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:26140457C>T	ENST00000361547.2	+	11	1528	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S	SEPN1_ENST00000494537.1_3'UTR|SEPN1_ENST00000374315.1_Silent_p.S457S|SEPN1_ENST00000354177.4_Silent_p.S457S	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	491						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCTGGTCCCTGGTGAAGG	0.617000													45	84					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102776269	102776269	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:102776269G>A	ENST00000504592.1	+	7	920	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	BANK1_ENST00000508653.1_Missense_Mutation_p.E50K|BANK1_ENST00000322953.4_Missense_Mutation_p.E183K|BANK1_ENST00000428908.1_Missense_Mutation_p.E50K|BANK1_ENST00000444316.2_Missense_Mutation_p.E153K			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	183					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGAGAGAAAGGAAATTGAAGA	0.378000													15	27					0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518384	161518384	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:161518384C>T	ENST00000367969.3	-	3	437	c.254G>A	c.(253-255)gGa>gAa	p.G85E	FCGR3A_ENST00000443193.1_Missense_Mutation_p.G84E|FCGR3A_ENST00000436743.1_Missense_Mutation_p.G49E|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000540048.1_Missense_Mutation_p.G49E	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	49	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGAGTAGGCTCCCTGGCACTT	0.542000													59	264					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64808718	64808718	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:64808718C>T	ENST00000332707.5	+	3	621	c.92C>T	c.(91-93)tCc>tTc	p.S31F		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	31	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTAAAAATTTCCCCAGATGCC	0.363000													52	48					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40564839	40564839	+	Missense_Mutation	SNP	C	C	T	rs145812191		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:40564839C>T	ENST00000455577.2	+	6	2185	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	PAK6_ENST00000560346.1_Missense_Mutation_p.R425W|PAK6_ENST00000453867.1_Missense_Mutation_p.R425W|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000542403.2_Missense_Mutation_p.R425W|PAK6_ENST00000260404.4_Missense_Mutation_p.R425W|PAK6_ENST00000441369.1_Missense_Mutation_p.R425W	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	425	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CTGCTTGGCCCGGGAGAAGCA	0.662000													17	0					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370994	240370994	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:240370994G>A	ENST00000319653.9	+	5	3112	c.2882G>A	c.(2881-2883)gGg>gAg	p.G961E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	961	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCTTCCCGGGGCAGGCATA	0.692000													62	154					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901448	160901448	+	Silent	SNP	G	G	A	rs147284017	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:160901448G>A	ENST00000283243.7	-	2	536	c.330C>T	c.(328-330)ctC>ctT	p.L110L	PLA2R1_ENST00000392771.1_Silent_p.L110L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	110	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTAAGGAAACGAGGGTGGAGT	0.542000													40	95					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81392143	81392143	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:81392143G>A	ENST00000222390.5	-	2	360	c.134C>T	c.(133-135)tCa>tTa	p.S45L	HGF_ENST00000453411.1_Missense_Mutation_p.S45L|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000354224.6_Missense_Mutation_p.S45L|HGF_ENST00000457544.2_Missense_Mutation_p.S45L|HGF_ENST00000444829.2_Missense_Mutation_p.S45L|HGF_ENST00000423064.2_Missense_Mutation_p.S45L	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	45	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGTCTTTGCTGATTTTTTGAA	0.289000													20	12					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3527745	3527745	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:3527745C>T	ENST00000441788.2	+	7	823	c.587C>T	c.(586-588)tCg>tTg	p.S196L	FZR1_ENST00000395095.3_Missense_Mutation_p.S196L|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	196					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGACTGGTCGTCCCTCAAT	0.627000													53	42					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63883811	63883811	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:63883811G>A	ENST00000246841.3	+	2	1115	c.72G>A	c.(70-72)atG>atA	p.M24I	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	0	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						ccgttgtgatgaccacggcca	0.677000													9	14					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28608128	28608128	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:28608128C>T	ENST00000380982.4	-	15	1919	c.1837_splice	c.e15-1	p.G613_splice	FLT3_ENST00000241453.7_Splice_Site_p.G613_splice|FLT3_ENST00000537084.1_Splice_Site_p.G613_splice			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	613	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.G613_K614ins23(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TAGTACCTTCCCTGCAAAGAC	0.403000			"""Mis, O"""		"""AML, ALL"""								61	81					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231170	7231170	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:7231170G>A	ENST00000383467.2	+	1	48	c.34G>A	c.(34-36)Gat>Aat	p.D12N		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	12										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CAGCTCCAAGGATAAGGGCCC	0.617000													24	40					0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116311088	116311088	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:116311088G>A	ENST00000261448.5	-	1	314	c.75C>T	c.(73-75)ttC>ttT	p.F25F	CASQ2_ENST00000456138.2_Silent_p.F25F	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	25					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CATATGTGGGGAAATTAAGCC	0.423000													34	59					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462775	21462775	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:21462775C>T	ENST00000281523.2	-	8	1637	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	373						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCAGGAGTGCCGGAGGAAGCG	0.557000													15	34					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55192355	55192355	+	Translation_Start_Site	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:55192355G>A	ENST00000340465.2	+	1	89	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	1						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGTCCAGCATGATAGTGTTTA	0.378000													55	117					0	0	1	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39382989	39382989	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:39382989C>T	ENST00000377721.3	+	1	90	c.83C>T	c.(82-84)aCt>aTt	p.T28I	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.T28I	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	28	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AAGCCCACCACTGTGACCACC	0.642000													40	130					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523504	95523504	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:95523504G>A	ENST00000297591.5	-	13	3374	c.3299C>T	c.(3298-3300)tCt>tTt	p.S1100F	KIAA1429_ENST00000437199.1_Missense_Mutation_p.S1100F|KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000421249.2_Missense_Mutation_p.S1100F	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1100					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CAAGATTGAAGAAAGAACTTC	0.373000													13	31					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031542	56031542	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:56031542C>T	ENST00000309675.2	+	1	899	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TCAACCCCATCATCTACACCC	0.592000													22	36					0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67815131	67815131	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:67815131C>T	ENST00000265686.3	+	12	1431	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	TCIRG1_ENST00000532635.1_Silent_p.F225F	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	441					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						AGACTTTCTTCAGGGGCCGCT	0.632000													45	57					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792319	143792319	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:143792319G>A	ENST00000408949.2	+	1	179	c.119G>A	c.(118-120)gGa>gAa	p.G40E		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ACCCTGATGGGAAATGGGATT	0.493000													52	146					0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61848968	61848968	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:61848968C>T	ENST00000403491.3	+	7	1490	c.1006C>T	c.(1006-1008)Cct>Tct	p.P336S	NFIA_ENST00000371187.3_Missense_Mutation_p.P336S|NFIA_ENST00000371185.2_Missense_Mutation_p.P314S|NFIA_ENST00000371189.4_Missense_Mutation_p.P381S|NFIA_ENST00000371184.2_Missense_Mutation_p.P207S|NFIA_ENST00000485903.2_Intron|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371191.1_Missense_Mutation_p.P359S|NFIA_ENST00000407417.3_Missense_Mutation_p.P328S	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	336					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CAGCCCCTCCCCTTCACAGAC	0.537000													116	169					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35094310	35094310	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:35094310G>A	ENST00000378617.3	-	3	952	c.558C>T	c.(556-558)ttC>ttT	p.F186F	PIGO_ENST00000341666.3_Silent_p.F186F|PIGO_ENST00000361778.2_Silent_p.F186F|PIGO_ENST00000298004.5_Silent_p.F186F	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	186					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAGCACCAGGGAAAAGGTCTT	0.502000													20	32					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43802211	43802211	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:43802211G>A	ENST00000291532.3	-	9	1870	c.915C>T	c.(913-915)atC>atT	p.I305I	TMPRSS3_ENST00000380399.1_Silent_p.I389I|TMPRSS3_ENST00000433957.2_Silent_p.I305I|TMPRSS3_ENST00000398405.1_Silent_p.I303I|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398397.3_Silent_p.I305I	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	305	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TCATAAGGGCGATGTCATTGC	0.507000													45	62					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58209139	58209139	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:58209139C>T	ENST00000377918.3	+	1	2485	c.2459C>T	c.(2458-2460)tCc>tTc	p.S820F		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	820					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AAACCGGCCTCCAACAACCTG	0.637000													15	31					0	0	1	0	0
EXOSC8	11340	broad.mit.edu	37	13	37582930	37582930	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:37582930G>C	ENST00000389704.3	+	10	938	c.673G>C	c.(673-675)Gta>Cta	p.V225L		NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	225					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CTTAACAATAGTAATGGATGA	0.398000													34	36					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	rs11554290		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:115256529T>A	ENST00000369535.4	-	3	435	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			215	124					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537744	55537744	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:55537744C>T	ENST00000220676.1	+	4	1450	c.1302C>T	c.(1300-1302)atC>atT	p.I434I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	434					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACACAGATATCATCCAGGGAA	0.448000													57	51					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91851333	91851333	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:91851333C>A	ENST00000370425.3	-	5	651	c.553G>T	c.(553-555)Gac>Tac	p.D185Y	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	185							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATGTGAGAGTCCAATTCATTG	0.318000													24	21					2.44723e-14	2.46979e-14	1	1	0
PCDHA12	56137	broad.mit.edu	37	5	140255514	140255514	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140255514C>T	ENST00000398631.2	+	1	457	c.457C>T	c.(457-459)Cct>Tct	p.P153S	PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCATTTTCCTCTAGAGGG	0.438000													23	34					0	0	1	0	0
POFUT2	23275	broad.mit.edu	37	21	46696976	46696976	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:46696976C>T	ENST00000331343.7	-	6	813	c.787G>A	c.(787-789)Gac>Aac	p.D263N	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Missense_Mutation_p.D263N	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	263					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		CTGTCTGCGTCGTCCGTGGAG	0.567000													5	138					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110830251	110830251	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:110830251C>T	ENST00000375820.4	-	33	2775	c.2654G>A	c.(2653-2655)gGg>gAg	p.G885E		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	885	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCGGGGGTCCCCATGACGCC	0.522000													29	26					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435759	145435759	+	Missense_Mutation	SNP	G	G	A	rs141349885	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:145435759G>A	ENST00000511217.1	+	7	1590	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.R513Q			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	513							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.R513Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGAAAGGGCGGAGCAGCATG	0.552000													42	47					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661530	4661530	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:4661530C>T	ENST00000357605.2	+	1	586	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATTCTTCTTCCCACTGCCCT	0.507000													105	142					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004809	248004809	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:248004809G>A	ENST00000355784.2	-	1	445	c.390C>T	c.(388-390)ctC>ctT	p.L130L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGGGTAGCGGAGTGGGCTGC	0.587000													14	42					0	0	1	0	0
GNAQ	2776	broad.mit.edu	37	9	80336420	80336420	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:80336420C>T	ENST00000286548.4	-	7	1121	c.899G>A	c.(898-900)aGa>aAa	p.R300K	GNAQ_ENST00000397476.3_Missense_Mutation_p.R98K	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	300					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTGGGCATCTCTCTGGGGTCC	0.463000			Mis		uveal melanoma								45	106					0	0	1	0	0
HNRNPAB	3182	broad.mit.edu	37	5	177634159	177634159	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:177634159C>T	ENST00000358344.3	+	5	859	c.602C>T	c.(601-603)aCc>aTc	p.T201I	HNRNPAB_ENST00000506259.1_Missense_Mutation_p.T201I|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.T201I|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.T201I|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.T201I|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.T201I|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.T201I	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	201	RRM 2.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						GTGTTTATCACCTTTAAAGAA	0.443000													29	34					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56320359	56320359	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:56320359C>T	ENST00000262290.4	+	2	335	c.19C>T	c.(19-21)Ctc>Ttc	p.L7F	LPO_ENST00000421678.2_Missense_Mutation_p.L7F|LPO_ENST00000582328.1_Missense_Mutation_p.L7F|LPO_ENST00000543544.1_5'UTR	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	7					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCTTCTCCATCTCCCAGCCCT	0.532000													73	190					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139606311	139606311	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:139606311G>A	ENST00000303045.6	-	63	5010	c.4564C>T	c.(4564-4566)Cgt>Tgt	p.R1522C	COL22A1_ENST00000435777.1_Missense_Mutation_p.R1502C|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1522	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGCCCAGGACGACCTGGCTCC	0.657000										HNSCC(7;0.00092)			25	66					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725562	140725562	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140725562C>T	ENST00000253812.6	+	1	1962	c.1962C>T	c.(1960-1962)ctC>ctT	p.L654L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCCCTCTCTCCGCCACTG	0.706000													51	45					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213797	9213797	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9213797C>T	ENST00000305456.2	-	1	185	c.186G>A	c.(184-186)ggG>ggA	p.G62G		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TGAGCAGGTTCCCCAGGATGG	0.493000													62	74					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886371	29886371	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:29886371G>A	ENST00000310624.6	+	4	2775	c.2742G>A	c.(2740-2742)gtG>gtA	p.V914V		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	920	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CTGCCAAGGTGGAGGTGAAGG	0.498000													8	5					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198672482	198672482	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:198672482C>T	ENST00000367376.2	+	7	804	c.633C>T	c.(631-633)gtC>gtT	p.V211V	PTPRC_ENST00000352140.3_Silent_p.V163V|PTPRC_ENST00000594404.1_Silent_p.V50V|PTPRC_ENST00000348564.6_Silent_p.V52V|PTPRC_ENST00000442510.2_Silent_p.V213V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	211					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAAGCGCTGTCATTTCAACCA	0.458000													120	81					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116436072	116436072	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:116436072A>G	ENST00000397752.3	+	21	4267	c.4067A>G	c.(4066-4068)tAt>tGt	p.Y1356C	MET_ENST00000318493.6_Missense_Mutation_p.Y1374C|MET_ENST00000539704.1_Missense_Mutation_p.Y226C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1356	Interaction with MUC20.|Interaction with RANBP9.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AACGCTACTTATGTGAACGTA	0.483000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				126	74					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324437	79324437	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:79324437G>A	ENST00000428286.1	-	8	2876	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S918F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	918					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGGTTCCAGGAATCTACCTT	0.398000													167	73					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46330212	46330212	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:46330212C>T	ENST00000397850.2	-	4	586	c.134G>A	c.(133-135)tGg>tAg	p.W45*	ITGB2_ENST00000397854.3_Nonsense_Mutation_p.W45*|ITGB2_ENST00000302347.5_Nonsense_Mutation_p.W45*|ITGB2_ENST00000397857.1_Nonsense_Mutation_p.W45*|ITGB2_ENST00000523126.1_5'UTR|ITGB2_ENST00000397846.3_Nonsense_Mutation_p.W45*|ITGB2_ENST00000397852.1_Nonsense_Mutation_p.W45*|ITGB2_ENST00000355153.4_Nonsense_Mutation_p.W45*			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	45					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CTTCTGGCACCAGGTGCAGCC	0.662000													22	30					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121518977	121518977	+	Silent	SNP	T	T	C	rs148469883		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:121518977T>C	ENST00000305949.1	+	16	1804	c.1759T>C	c.(1759-1761)Ttg>Ctg	p.L587L		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	587	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATCTGAACAGTTGCTGGGCCA	0.403000													28	76					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57398298	57398298	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:57398298G>A	ENST00000607273.1	+	10	1088	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	334					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTATCAAAGGAAAGATGGAT	0.343000													18	123					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38511923	38511923	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:38511923C>T	ENST00000263409.4	-	6	867	c.705G>A	c.(703-705)tgG>tgA	p.W235*	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Nonsense_Mutation_p.W235*	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	235					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCCAGTCACTCCACTCTTCGA	0.368000			T	PLAG1	salivary adenoma								32	22					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37923931	37923931	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:37923931G>A	ENST00000199447.4	+	13	1393	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.E341K	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	341	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TATTAAAGATGAAGACTTCAA	0.279000													45	25					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324252	79324252	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:79324252C>T	ENST00000428286.1	-	8	3061	c.1861G>A	c.(1861-1863)Gga>Aga	p.G621R	PRUNE2_ENST00000376718.3_Missense_Mutation_p.G980R			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	980					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTTCGTCTCCAGCAAATGTT	0.448000													35	62					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238287293	238287293	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:238287293G>A	ENST00000295550.4	-	6	2935	c.2483C>T	c.(2482-2484)cCa>cTa	p.P828L	COL6A3_ENST00000392003.2_Missense_Mutation_p.P421L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P622L|COL6A3_ENST00000347401.3_Missense_Mutation_p.P627L|COL6A3_ENST00000392004.3_Missense_Mutation_p.P622L|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Missense_Mutation_p.P622L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	828	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGAGCGAGTGGTACTTCCTC	0.547000													231	165					0	0	1	0	0
RDM1	201299	broad.mit.edu	37	17	34247233	34247233	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:34247233G>A	ENST00000394529.3	-	5	1128	c.642C>T	c.(640-642)atC>atT	p.I214I	RDM1_ENST00000431884.2_Silent_p.I204I|RDM1_ENST00000293273.6_Silent_p.I237I|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000419453.2_Silent_p.I181I	NM_001163130.1	NP_001156602.1	Q8NG50	RDM1_HUMAN	RAD52 motif 1	237					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGACACCTACGATGTCTTCAC	0.368000								Other identified genes with known or suspected DNA repair function					51	55					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110921	81110921	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:81110921G>A	ENST00000228644.3	+	1	231	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	27					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCCCGAGGGTGAATTTGGGGA	0.622000													34	28					0	0	1	0	0
UGT2A2	574537	broad.mit.edu	37	4	70505082	70505082	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:70505082C>T	ENST00000457664.2	-	1	276	c.277G>A	c.(277-279)Gat>Aat	p.D93N	UGT2A1_ENST00000514019.1_Missense_Mutation_p.D294N|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron	NM_001105677.2	NP_001099147.2																					ATTAAGGAATCTATATTGCTC	0.393000													36	36					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117685236	117685236	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:117685236C>T	ENST00000317775.6	-	18	3425	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K	NOS1_ENST00000338101.4_Missense_Mutation_p.E948K|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	914	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.E914K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGGATCCTCTCCCCTCCCAGT	0.557000													43	68					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974403	49974403	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:49974403G>A	ENST00000555099.1	+	1	461	c.429G>A	c.(427-429)gtG>gtA	p.V143V		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GCCTGCTAGTGGGAGTGTCAT	0.453000													26	36					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7628141	7628141	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:7628141G>A	ENST00000340080.4	+	8	2252	c.1831G>A	c.(1831-1833)Gtt>Att	p.V611I	MIOS_ENST00000405785.1_Missense_Mutation_p.V611I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	611										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAAAACAAAGTTGCAGTACG	0.323000													41	34					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382221	41382221	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:41382221C>T	ENST00000377801.3	-	2	593	c.519G>A	c.(517-519)gcG>gcA	p.A173A	PLCXD3_ENST00000328457.3_Silent_p.A173A			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	173	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCAAAAATCGCTGGGCACA	0.428000													70	102					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64883418	64883418	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:64883418G>A	ENST00000279263.7	+	10	1312	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	TM7SF2_ENST00000345348.5_Missense_Mutation_p.V357M|TM7SF2_ENST00000540748.1_Missense_Mutation_p.V268M	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	384					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGCGCTGCTGGTGCACCGTGA	0.647000													41	36					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72032285	72032285	+	Silent	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:72032285T>C	ENST00000378743.3	-	7	1996	c.1638A>G	c.(1636-1638)ccA>ccG	p.P546P		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	546	Pro-rich.				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						GCGGTTGCACTGGTGAAGGAG	0.343000													11	12					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96044656	96044656	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:96044656G>A	ENST00000260766.3	+	22	5603	c.4969G>A	c.(4969-4971)Gaa>Aaa	p.E1657K	PLCE1_ENST00000371375.1_Missense_Mutation_p.E1349K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E1349K|PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000371380.2_Missense_Mutation_p.E1657K|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1-AS1_ENST00000440198.1_RNA	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1657					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAATAAAAAGGAAAGCAGACA	0.338000													22	20					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143793076	143793076	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:143793076G>A	ENST00000408949.2	+	1	936	c.876G>A	c.(874-876)agG>agA	p.R292R		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ACAGCCTTAGGAATGCAGAGG	0.463000													122	342					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	93943985	93943985	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:93943985C>T	ENST00000553484.1	+	4	684	c.530C>T	c.(529-531)aCg>aTg	p.T177M	UNC79_ENST00000393151.2_Missense_Mutation_p.T177M|UNC79_ENST00000256339.4_5'UTR|UNC79_ENST00000555664.1_Missense_Mutation_p.T177M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	177						integral to membrane		p.?(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTGCCCTACACGATGATATCA	0.353000													59	63					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708353	43708353	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:43708353C>T	ENST00000405312.3	-	2	352	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	PSG4_ENST00000244295.9_Missense_Mutation_p.E39K|PSG4_ENST00000433626.2_Missense_Mutation_p.E39K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	39	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGCTGGGCTTCAATCGTGACT	0.458000													87	91					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185229341	185229341	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:185229341C>T	ENST00000296252.4	-	9	1380	c.1239G>A	c.(1237-1239)atG>atA	p.M413I	LIPH_ENST00000424591.2_Missense_Mutation_p.M379I	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	413					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ACCTTAACTTCATTCGGAGAA	0.458000													38	62					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28737418	28737418	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:28737418C>T	ENST00000257197.3	-	3	528	c.267G>A	c.(265-267)agG>agA	p.R89R	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.R89R	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	89					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AAAAACTTTTCCTTTCAGAAG	0.428000													18	28					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50535387	50535387	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:50535387C>T	ENST00000267845.3	-	11	1597	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	HDC_ENST00000543581.1_Missense_Mutation_p.E366K	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	399					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GCAGGAATTTCAAAGGAAGGG	0.433000													23	18					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50056185	50056185	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:50056185G>A	ENST00000281631.5	+	5	492	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	PARP8_ENST00000514067.2_Missense_Mutation_p.E112K|PARP8_ENST00000503750.2_Missense_Mutation_p.E112K|PARP8_ENST00000511363.2_Intron|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.E91K|PARP8_ENST00000505697.2_Missense_Mutation_p.E112K	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	112						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATTACAAAAGGAAAATGGGGA	0.229000													11	14					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	799501	799501	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:799501G>A	ENST00000347755.5	-	16	2680	c.2539C>T	c.(2539-2541)Cca>Tca	p.P847S	PIDD_ENST00000411829.2_Missense_Mutation_p.P830S	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	847	Death.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										ACAGCCCCTGGCTGCCCAGCC	0.662000													33	23					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160465995	160465995	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:160465995G>A	ENST00000368059.3	-	2	307	c.238C>T	c.(238-240)Ccg>Tcg	p.P80S	SLAMF6_ENST00000368057.3_Missense_Mutation_p.P80S|SLAMF6_ENST00000368055.1_Intron	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	80						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CCCTGTTTCGGATTAGTCACG	0.468000													64	36					0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931667	150931667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:150931667C>T	ENST00000309170.3	-	3	750	c.438G>A	c.(436-438)tgG>tgA	p.W146*	P2RY14_ENST00000424796.2_Nonsense_Mutation_p.W146*|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	146						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCATGAGCATCCATACTATCA	0.388000													42	44					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46708370	46708370	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:46708370G>A	ENST00000398576.2	-	17	1906	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	LCP1_ENST00000323076.2_Silent_p.I506I|LCP1_ENST00000435666.2_Silent_p.I75I			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	506	Actin-binding 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TTTCTTCGAGGATATTCAGTG	0.343000			T	BCL6	NHL								33	27					0	0	1	0	0
LZTFL1	54585	broad.mit.edu	37	3	45877095	45877095	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:45877095C>T	ENST00000296135.6	-	3	484	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	LZTFL1_ENST00000539217.1_Missense_Mutation_p.E100K|LZTFL1_ENST00000536047.1_Missense_Mutation_p.E87K|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	104										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTTTCAAGTTCAGAGATGTCT	0.388000													45	71					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74315124	74315124	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:74315124C>T	ENST00000395792.2	+	9	1231	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	AFP_ENST00000226359.2_Silent_p.Y377Y	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	377	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTAAAGGATACCAGGAGTTAT	0.363000									Alpha-Fetoprotein, Hereditary Persistence of				27	41					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3888096	3888096	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:3888096G>A	ENST00000319331.3	+	2	2532	c.1771G>A	c.(1771-1773)Gat>Aat	p.D591N	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	591	Fibronectin type-III.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GCCTTCCACAGATTATGAAGT	0.458000													122	146					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25420128	25420128	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:25420128C>T	ENST00000441592.2	+	0	179				SNORD115-3_ENST00000363100.1_RNA																							ACTTAAAAATCATGCTTAGTA	0.498000													156	21					0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85894227	85894227	+	Splice_Site	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:85894227A>G	ENST00000393822.3	-	4	403		c.e4+1		SFTPB_ENST00000519937.2_Splice_Site|SFTPB_ENST00000409383.1_Splice_Site|SFTPB_ENST00000342375.3_Splice_Site			P07988	PSPB_HUMAN	surfactant protein B						organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GGGCATCATTACCTGGAAAAT	0.572000													26	25					0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68691466	68691466	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:68691466C>T	ENST00000283916.6	-	9	1177	c.1079G>A	c.(1078-1080)gGa>gAa	p.G360E	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.G243E|RP11-453E17.1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	360	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGCGTCCACTCCACCTTGAGG	0.413000													16	20					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758501	5758501	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:5758501C>T	ENST00000317121.3	+	1	821	c.755C>T	c.(754-756)tCa>tTa	p.S252L	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		ACTTGTAGTTCACATCTCACC	0.388000													80	86					0	0	1	0	0
HSD17B6	8630	broad.mit.edu	37	12	57175989	57175989	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:57175989G>A	ENST00000554643.1	+	4	894	c.545G>A	c.(544-546)gGa>gAa	p.G182E	HSD17B6_ENST00000555159.1_Missense_Mutation_p.G182E|HSD17B6_ENST00000555805.1_Missense_Mutation_p.G182E|HSD17B6_ENST00000322165.1_Missense_Mutation_p.G182E|HSD17B6_ENST00000554150.1_Missense_Mutation_p.G182E			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	182					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TCCAAGTATGGAGTGGAAGCC	0.428000													19	16					0	0	1	0	0
ASB9	140462	broad.mit.edu	37	X	15268625	15268625	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:15268625G>A	ENST00000546332.1	-	6	978	c.495C>T	c.(493-495)agC>agT	p.S165S	ASB9_ENST00000380488.4_Silent_p.S165S|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Silent_p.S165S|ASB9_ENST00000380483.3_Silent_p.S155S	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	165					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TGCCCAGGTGGCTGATCTTAT	0.458000													49	3					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207890918	207890918	+	Silent	SNP	A	A	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:207890918A>T	ENST00000508064.2	+	11	1584	c.1524A>T	c.(1522-1524)ccA>ccT	p.P508P		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	508	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACCCCCACCCAGACAGAGGGA	0.537000													169	112					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31573035	31573035	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:31573035G>A	ENST00000379416.3	-	25	2734	c.2686C>T	c.(2686-2688)Cgg>Tgg	p.R896W		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	896					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCAGTGCCCCGGATGTTGGGG	0.537000													70	146					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38768474	38768474	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:38768474C>T	ENST00000449082.2	-	16	2709	c.2710G>A	c.(2710-2712)Gat>Aat	p.D904N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	904					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACCTCCCCATCGTCCTCCGGG	0.547000													109	128					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176531	57176531	+	Silent	SNP	T	T	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:57176531T>G	ENST00000537055.2	-	2	267	c.36A>C	c.(34-36)gcA>gcC	p.A12A		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTTCCAACTCTGCGCCCTGGA	0.562000													19	19					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25708206	25708206	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:25708206G>A	ENST00000520164.1	-	15	2137	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S	EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_Missense_Mutation_p.P386S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	534	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGACAGCAGGAAAAACTGAA	0.507000													31	51					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77245241	77245241	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:77245241C>T	ENST00000376896.2	+	2	663	c.51C>T	c.(49-51)tcC>tcT	p.S17S	RORB_ENST00000396204.2_Silent_p.S28S	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	28					eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCGATAAGTCCTCTGGGATCC	0.438000													88	49					0	0	1	0	0
KIAA0825	285600	broad.mit.edu	37	5	93856421	93856421	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:93856421G>A	ENST00000513200.3	-	4	574	c.502C>T	c.(502-504)Ctt>Ttt	p.L168F	KIAA0825_ENST00000312498.7_Missense_Mutation_p.L168F|KIAA0825_ENST00000427991.2_Missense_Mutation_p.L168F|KIAA0825_ENST00000329378.7_Missense_Mutation_p.L168F	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	168										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						AAGCGTCGAAGATGCAGTCTT	0.353000													23	28					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380613	147380613	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:147380613C>T	ENST00000240986.4	+	2	584	c.531C>T	c.(529-531)atC>atT	p.I177I	GJA8_ENST00000369235.1_Silent_p.I177I	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	177					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGTTCCGGATCCTGCCTCTGT	0.577000													59	185					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102789	168102789	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:168102789G>A	ENST00000409195.1	+	9	4976	c.4887G>A	c.(4885-4887)gaG>gaA	p.E1629E	XIRP2_ENST00000409273.1_Silent_p.E1407E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.E1629E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1454					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGAAGAAGAGAAGGGAAATG	0.328000													32	20					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41101199	41101199	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:41101199G>A	ENST00000373198.3	-	8	1392	c.1157C>T	c.(1156-1158)cCg>cTg	p.P386L	PTPRT_ENST00000373201.1_Missense_Mutation_p.P386L|PTPRT_ENST00000373184.1_Missense_Mutation_p.P386L|PTPRT_ENST00000356100.2_Missense_Mutation_p.P386L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P386L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P386L|PTPRT_ENST00000373187.1_Missense_Mutation_p.P386L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	386	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCATGTACCGGATCTGCAAA	0.557000													18	29					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046383	69046383	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:69046383C>T	ENST00000295381.3	+	9	1548	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	ARHGAP25_ENST00000409220.1_Nonsense_Mutation_p.R371*|ARHGAP25_ENST00000467265.1_Nonsense_Mutation_p.R338*|ARHGAP25_ENST00000497079.1_Nonsense_Mutation_p.R371*|ARHGAP25_ENST00000409202.3_Nonsense_Mutation_p.R378*|ARHGAP25_ENST00000409030.3_Nonsense_Mutation_p.R370*|ARHGAP25_ENST00000479844.1_Nonsense_Mutation_p.R71*	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	377					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCCAGTGGCCCGAAGCTCTGT	0.517000													57	86					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183676138	183676138	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:183676138G>A	ENST00000511685.1	+	22	4741	c.4618G>A	c.(4618-4620)Gat>Aat	p.D1540N	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.D1540N					teneurin transmembrane protein 3																		AGTCACTGGTGATTACCTTTA	0.393000													15	24					0	0	1	0	0
DAW1	164781	broad.mit.edu	37	2	228786135	228786135	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:228786135G>A	ENST00000309931.2	+	12	1154	c.1071G>A	c.(1069-1071)ggG>ggA	p.G357G	DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Silent_p.G342G	NM_178821.1	NP_849143.1			dynein assembly factor with WDR repeat domains 1									p.G357G(1)									ACCCTCAAGGGAACCATCTTC	0.413000													29	80					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88300437	88300437	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:88300437G>A	ENST00000418177.2	-	8	2781	c.2414C>T	c.(2413-2415)tCg>tTg	p.S805L	GRM5_ENST00000455756.2_Missense_Mutation_p.S805L|GRM5_ENST00000305432.5_Missense_Mutation_p.S805L|GRM5_ENST00000305447.4_Missense_Mutation_p.S805L|GRM5_ENST00000393297.1_Missense_Mutation_p.S805L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	805					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GAGGCTGACCGAGAAACACAT	0.498000													55	70					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702035	179702035	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:179702035C>T	ENST00000420890.2	-	23	4028	c.3911G>A	c.(3910-3912)gGa>gAa	p.G1304E	CCDC141_ENST00000295723.5_Missense_Mutation_p.G729E|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	729							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCCACGAATCCTCTGGAGGT	0.473000													94	47					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957588	50957588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:50957588G>A	ENST00000357701.5	+	18	2027	c.1976G>A	c.(1975-1977)tGg>tAg	p.W659*		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	659	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ATCCTTGTCTGGGAGCCACCA	0.587000													37	60					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047693	9047693	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9047693G>A	ENST00000397910.4	-	5	34141	c.33938C>T	c.(33937-33939)cCt>cTt	p.P11313L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11315	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTATACCAGGTGAAATAGT	0.483000													22	20					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263371	248263371	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:248263371G>A	ENST00000366478.2	+	3	1031	c.694G>A	c.(694-696)Ggg>Agg	p.G232R	OR2L13_ENST00000358120.2_Missense_Mutation_p.G232R	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTCAAAGGAGGGGAGAAAAAA	0.433000													29	61					0	0	1	0	0
KANSL2	54934	broad.mit.edu	37	12	49061560	49061560	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:49061560G>A	ENST00000550347.1	-	6	1481	c.1438C>T	c.(1438-1440)Cgt>Tgt	p.R480C	KANSL2_ENST00000420613.2_Missense_Mutation_p.R297C|KANSL2_ENST00000357861.3_Missense_Mutation_p.R102C|KANSL2_ENST00000553086.1_Missense_Mutation_p.R297C			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	297																	TGACTGGAACGAGTGGTATGG	0.408000													60	66					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12712557	12712557	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:12712557A>C	ENST00000380682.1	+	9	1423	c.917A>C	c.(916-918)gAg>gCg	p.E306A		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	306	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.E306G(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GTTGCTTTCGAGTATCTCTAT	0.383000													23	4					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38266424	38266424	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:38266424C>T	ENST00000379705.3	-	4	1803	c.946G>A	c.(946-948)Gat>Aat	p.D316N	TRPC4_ENST00000426868.2_Missense_Mutation_p.D316N|TRPC4_ENST00000355779.2_Missense_Mutation_p.D316N|TRPC4_ENST00000379679.1_Missense_Mutation_p.D143N|TRPC4_ENST00000358477.2_Missense_Mutation_p.D316N|TRPC4_ENST00000338947.5_Missense_Mutation_p.D143N|TRPC4_ENST00000447043.1_Missense_Mutation_p.D316N|TRPC4_ENST00000379681.3_Missense_Mutation_p.D316N|TRPC4_ENST00000379673.2_Missense_Mutation_p.D316N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	316					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGAAACTCATCGTACCAGCGA	0.458000													40	40					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22301256	22301256	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:22301256C>T	ENST00000324559.8	+	22	3004	c.2687C>T	c.(2686-2688)gCc>gTc	p.A896V		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	896						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AATGAATTTGCCAAGCATGTC	0.363000													24	28					0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986544	51986544	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:51986544C>T	ENST00000396477.4	+	4	968	c.947C>T	c.(946-948)cCc>cTc	p.P316L	CEACAM18_ENST00000451626.1_Missense_Mutation_p.P377L	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	377	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATCCAGGCCCCCCATGAGTGC	0.612000													22	26					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164760924	164760924	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:164760924C>T	ENST00000264382.3	-	17	1989	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	643	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAAAGTTCTTCTGTGGTTTCA	0.368000										HNSCC(35;0.089)			19	20					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086318	55086318	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:55086318G>A	ENST00000251377.3	+	5	606	c.473G>A	c.(472-474)gGa>gAa	p.G158E	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Missense_Mutation_p.G158E|LILRA2_ENST00000391737.1_Missense_Mutation_p.G146E|LILRA2_ENST00000251376.3_Missense_Mutation_p.G158E|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGTAAGGAAGGAGAAGATGAA	0.602000													61	75					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230383	7230383	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:7230383C>T	ENST00000379938.2	+	10	2588	c.2051C>T	c.(2050-2052)gCc>gTc	p.A684V	RREB1_ENST00000349384.6_Missense_Mutation_p.A684V|RREB1_ENST00000379933.3_Missense_Mutation_p.A684V|RREB1_ENST00000334984.6_Missense_Mutation_p.A684V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	684					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCCGACAAGGCCGCGCTCATC	0.632000													23	52					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35793320	35793320	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:35793320C>T	ENST00000440995.2	+	32	4599	c.4599C>T	c.(4597-4599)ttC>ttT	p.F1533F	SPEF2_ENST00000303129.4_Silent_p.F335F|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.F1538F			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1538					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)			GGCGGAAGTTCCTGTTAGTAA	0.448000													39	47					0	0	1	0	0
GRTP1	79774	broad.mit.edu	37	13	114005253	114005253	+	Missense_Mutation	SNP	G	G	A	rs146277531	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:114005253G>A	ENST00000375430.4	-	4	422	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	GRTP1_ENST00000326039.3_Missense_Mutation_p.R48W|GRTP1_ENST00000375431.4_Missense_Mutation_p.R126W			Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	126	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GTGGTCTTCCGGAACTTCACG	0.582000													124	125					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361417	107361417	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:107361417G>A	ENST00000374779.2	-	1	371	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCCAGAAAGGGAAATGGTCTT	0.517000													24	141					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121994750	121994750	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:121994750C>T	ENST00000498619.1	+	5	1907	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	CASR_ENST00000490131.1_Missense_Mutation_p.S490F|CASR_ENST00000296154.5_Missense_Mutation_p.S490F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	490					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.S490F(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGGAACTATTCCATCATCAAC	0.488000													59	81					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25464476	25464476	+	Silent	SNP	C	C	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:25464476C>G	ENST00000264709.3	-	17	2374	c.2037G>C	c.(2035-2037)ggG>ggC	p.G679G	DNMT3A_ENST00000402667.1_Silent_p.G456G|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Silent_p.G679G|DNMT3A_ENST00000380746.4_Silent_p.G490G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	679					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATGATCTTCCCCTGGTGCC	0.622000			"""Mis, F, N, S"""		AML								68	35					0	0	1	0	0
TSTD2	158427	broad.mit.edu	37	9	100367789	100367789	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:100367789C>T	ENST00000341170.4	-	8	1471	c.1089G>A	c.(1087-1089)cgG>cgA	p.R363R	TSTD2_ENST00000375165.1_Silent_p.R103R|TSTD2_ENST00000354801.2_Silent_p.R103R|TSTD2_ENST00000375172.2_Silent_p.R137R	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	363	Rhodanese.									large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGGCTGAACCCCGCTCACAGC	0.552000													31	73					0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125551448	125551448	+	Silent	SNP	C	C	T	rs149596287		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:125551448C>T	ENST00000373680.2	+	1	299	c.237C>T	c.(235-237)tcC>tcT	p.S79S		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GCTATTCCTCCGCCATCGGCC	0.602000													124	284					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596985	179596985	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:179596985G>A	ENST00000589042.1	-	57	16935	c.16711C>T	c.(16711-16713)Cct>Tct	p.P5571S	TTN_ENST00000342992.6_Missense_Mutation_p.P4327S|TTN_ENST00000591111.1_Missense_Mutation_p.P5254S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5254	Ig-like 36.						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)			TTAATTGGAGGGGTACCAGTT	0.428000													49	134					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109687542	109687542	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:109687542A>G	ENST00000277225.5	+	3	1638	c.1349A>G	c.(1348-1350)cAt>cGt	p.H450R	ZNF462_ENST00000457913.1_Missense_Mutation_p.H450R			Q96JM2	ZN462_HUMAN	zinc finger protein 462	450					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTCACCATGCATCGACGTAGC	0.443000													120	66					0	0	1	0	0
MAL2	114569	broad.mit.edu	37	8	120233930	120233930	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:120233930C>T	ENST00000276681.6	+	3	338	c.236C>T	c.(235-237)tCg>tTg	p.S79L	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	79	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TTTTTCTTTTCGCTCCTCTTT	0.458000													103	127					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129868702	129868702	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:129868702G>A	ENST00000254667.3	+	14	1560	c.1281G>A	c.(1279-1281)gaG>gaA	p.E427E	PTPRE_ENST00000419012.2_Silent_p.E427E|PTPRE_ENST00000306042.5_Silent_p.E369E	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	427	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TCGGGCTGGAGGAGGAGTTCA	0.572000													26	77					0	0	1	0	0
MFRP	83552	broad.mit.edu	37	11	119217022	119217022	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:119217022G>A	ENST00000555262.1	-	2	276	c.117C>T	c.(115-117)ttC>ttT	p.F39F	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Silent_p.F39F|MFRP_ENST00000529147.1_Intron|MFRP_ENST00000360167.4_Silent_p.F39F|MFRP_ENST00000530681.1_Silent_p.F39F	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CATCCTCTGGGAAAACTGGGG	0.632000													12	0					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634824	179634824	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:179634824G>A	ENST00000589042.1	-	36	8828	c.8604C>T	c.(8602-8604)gtC>gtT	p.V2868V	TTN_ENST00000342992.6_Silent_p.V2868V|TTN_ENST00000591111.1_Silent_p.V2868V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.V2822V|TTN_ENST00000360870.5_Silent_p.V2868V|TTN_ENST00000460472.2_Silent_p.V2822V|TTN_ENST00000359218.5_Silent_p.V2822V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2606							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)			CCAATTGCCCGACCACAGCTG	0.483000													126	91					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7628142	7628142	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:7628142T>A	ENST00000340080.4	+	8	2253	c.1832T>A	c.(1831-1833)gTt>gAt	p.V611D	MIOS_ENST00000405785.1_Missense_Mutation_p.V611D	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	611										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAAAACAAAGTTGCAGTACGT	0.328000													42	34					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36975988	36975988	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:36975988A>G	ENST00000282516.8	+	9	1478	c.979A>G	c.(979-981)Aag>Gag	p.K327E	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.K327E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	327					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAAGAAGCAGAAGAAAATGAA	0.373000													29	18					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67170829	67170829	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:67170829G>A	ENST00000269081.4	-	25	3876	c.2967C>T	c.(2965-2967)ttC>ttT	p.F989F	ABCA10_ENST00000519732.1_Intron|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	989					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGAGAATCAAGAAGTATAATG	0.378000													46	122					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633708	70633708	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:70633708C>T	ENST00000381269.2	-	2	2185	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	SLC8A3_ENST00000356921.2_Missense_Mutation_p.E478K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E478K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E478K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E478K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	478	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AAGAAGTGTTCATCCTCCTCA	0.517000													120	143					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24525589	24525589	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:24525589C>T	ENST00000342740.5	+	11	1006	c.852C>T	c.(850-852)ccC>ccT	p.P284P	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	284								p.P284P(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCCACAACCCCATCGAGGACA	0.612000													27	29					0	0	1	0	0
RGL4	266747	broad.mit.edu	37	22	24040498	24040498	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:24040498G>A	ENST00000290691.5	+	10	2530	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	RGL4_ENST00000460167.1_3'UTR|RGL4_ENST00000401461.1_Missense_Mutation_p.E318K	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	454	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CACAAGAATGGAGCAGCTCAG	0.512000													26	35					0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202911228	202911228	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:202911228C>T	ENST00000340990.5	-	7	1222	c.924G>A	c.(922-924)gtG>gtA	p.V308V	ADIPOR1_ENST00000436244.1_Silent_p.V308V	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	308					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	p.V308V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGATGTACATCACAGCCATGA	0.512000													32	81					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31384573	31384573	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:31384573G>A	ENST00000268296.4	+	20	2491	c.2370G>A	c.(2368-2370)ttG>ttA	p.L790L	ITGAX_ENST00000562522.1_Silent_p.L790L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	790					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TACCCAGCTTGAAGTCCCTGC	0.527000													48	81					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678422	48678422	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:48678422C>T	ENST00000352832.5	+	18	4105	c.3733C>T	c.(3733-3735)Ctg>Ttg	p.L1245L	CACNA1G_ENST00000514079.1_Silent_p.L1268L|CACNA1G_ENST00000510366.1_Silent_p.L1268L|CACNA1G_ENST00000513964.1_Silent_p.L1268L|CACNA1G_ENST00000502264.1_Silent_p.L1245L|CACNA1G_ENST00000507510.2_Silent_p.L1268L|CACNA1G_ENST00000507609.1_Silent_p.L1268L|CACNA1G_ENST00000416767.4_Silent_p.L1268L|CACNA1G_ENST00000360761.4_Silent_p.L1245L|CACNA1G_ENST00000510115.1_Silent_p.L1245L|CACNA1G_ENST00000359106.5_Silent_p.L1268L|CACNA1G_ENST00000354983.4_Silent_p.L1245L|CACNA1G_ENST00000505165.1_Silent_p.L1268L|CACNA1G_ENST00000358244.5_Silent_p.L1245L|CACNA1G_ENST00000515765.1_Silent_p.L1268L|CACNA1G_ENST00000507896.1_Silent_p.L1268L|CACNA1G_ENST00000442258.2_Silent_p.L1245L|CACNA1G_ENST00000503485.1_Silent_p.L1268L|CACNA1G_ENST00000515411.1_Silent_p.L1268L|CACNA1G_ENST00000512389.1_Silent_p.L1268L|CACNA1G_ENST00000515165.1_Silent_p.L1268L|CACNA1G_ENST00000514717.1_Silent_p.L1245L|CACNA1G_ENST00000429973.2_Silent_p.L1268L|CACNA1G_ENST00000513689.2_Silent_p.L1268L|CACNA1G_ENST00000514181.1_Silent_p.L1268L|CACNA1G_ENST00000507336.1_Silent_p.L1268L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1268					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTTCCGCCTCCTGTGTCACCG	0.622000													72	183					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112045923	112045923	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:112045923C>T	ENST00000241356.4	-	1	459	c.54G>A	c.(52-54)atG>atA	p.M18I	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Missense_Mutation_p.M18I	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	18					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	TGAAAATTTCCATGGTGATGT	0.532000													18	26					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715106	55715106	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:55715106C>T	ENST00000379668.2	+	1	761	c.723C>T	c.(721-723)tcC>tcT	p.S241S		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CATGTTCTTCCCACATGGTTG	0.393000													30	51					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66431952	66431952	+	Silent	SNP	C	C	T	rs144950468		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:66431952C>T	ENST00000383703.3	-	18	3255	c.2652G>A	c.(2650-2652)ccG>ccA	p.P884P	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Silent_p.P907P|SLC25A26_ENST00000536651.1_Intron			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	907						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCGCTTTCCACGGCTCTTTGT	0.512000													49	61					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135383107	135383107	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:135383107C>T	ENST00000442011.2	+	6	930	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	TGFBI_ENST00000305126.8_Missense_Mutation_p.R257W	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	257	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAGACCCTTCGGGTAAGGGA	0.567000													141	166					0	0	1	0	0
EIF4E2	9470	broad.mit.edu	37	2	233431625	233431625	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:233431625C>T	ENST00000409514.1	+	5	504	c.462C>T	c.(460-462)gcC>gcT	p.A154A	EIF4E2_ENST00000409495.1_Silent_p.A154A|EIF4E2_ENST00000409167.3_Silent_p.A109A|EIF4E2_ENST00000409098.1_Silent_p.A154A|EIF4E2_ENST00000258416.3_Silent_p.A154A|EIF4E2_ENST00000409322.1_Silent_p.A109A|EIF4E2_ENST00000409394.1_Silent_p.A109A			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	154	EIF4EBP1/2/3 binding.				regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCATTTTGGCCATGCTGGGGG	0.527000													92	65					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1617024	1617024	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:1617024C>T	ENST00000381580.1	-	3	638	c.459G>A	c.(457-459)ggG>ggA	p.G153G	SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Silent_p.G186G|SIRPG_ENST00000381583.2_Silent_p.G186G|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000303415.3_Silent_p.G186G			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	186	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AGAGCTCATTCCCATTTTTGA	0.577000													49	61					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974404	49974404	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:49974404G>A	ENST00000555099.1	+	1	462	c.430G>A	c.(430-432)Gga>Aga	p.G144R		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCTGCTAGTGGGAGTGTCATG	0.458000													28	36					0	0	1	0	0
GPATCH2L	55668	broad.mit.edu	37	14	76620920	76620920	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:76620920G>A	ENST00000261530.7	+	2	280	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	GPATCH2L_ENST00000312858.5_Missense_Mutation_p.A72T|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.A72T|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.A72T	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		TCTGGATGAGGCCACTAAGGA	0.537000													28	35					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61932941	61932941	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:61932941C>T	ENST00000280772.1	-	19	2379	c.2188G>A	c.(2188-2190)Gga>Aga	p.G730R	ANK3_ENST00000503366.1_Missense_Mutation_p.G713R|ANK3_ENST00000373827.2_Missense_Mutation_p.G724R	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	730					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGTGTGTATCCCATCTGtaat	0.323000													21	21					0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104124751	104124751	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:104124751G>A	ENST00000259407.2	-	4	1324	c.1216C>T	c.(1216-1218)Ctc>Ttc	p.L406F	BAAT_ENST00000395051.3_Missense_Mutation_p.L406F	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	406					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TGCTTCCTGAGAAATCTCTGG	0.478000													68	43					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189870933	189870933	+	Splice_Site	SNP	G	G	A	rs121912916		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:189870933G>A	ENST00000304636.3	+	42	3211	c.3039_splice	c.e42-1	p.G1014_splice	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1014	Triple-helical region.		G -> E (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTAATCAGGGAAACCCTGGA	0.388000													44	26					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25335137	25335137	+	RNA	SNP	C	C	T	rs150521993	by1000genomes	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:25335137C>T	ENST00000546682.1	+	0	839				SNHG14_ENST00000384430.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						AACTCTATACCGTCATCCTCG	0.473000													107	6					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125620264	125620264	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:125620264G>A	ENST00000373670.1	-	12	2992	c.2392C>T	c.(2392-2394)Cct>Tct	p.P798S	RC3H2_ENST00000357244.2_Missense_Mutation_p.P798S|RC3H2_ENST00000423239.2_Missense_Mutation_p.P798S			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	798						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GTTGCCACAGGAAGAGTTGAA	0.458000													73	55					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397886	125397886	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:125397886G>A	ENST00000536769.1	-	1	2008	c.432C>T	c.(430-432)caC>caT	p.H144H	UBC_ENST00000339647.5_Silent_p.H144H|UBC_ENST00000538617.1_Silent_p.H144H|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	144	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGAGCACCAGGTGCAGGGTAG	0.557000													29	275					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18330078	18330078	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:18330078C>T	ENST00000355502.3	-	12	1803	c.932G>A	c.(931-933)gGg>gAg	p.G311E	PDE4C_ENST00000539010.1_Missense_Mutation_p.G80E|PDE4C_ENST00000594617.2_Missense_Mutation_p.G311E|PDE4C_ENST00000594465.2_Missense_Mutation_p.G311E|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000447275.2_Missense_Mutation_p.G205E|PDE4C_ENST00000262805.11_Missense_Mutation_p.G279E			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	311					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	AGTCTGGACCCCAAAGCGTGG	0.617000													43	37					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53001989	53001989	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:53001989G>A	ENST00000305748.3	-	9	1648	c.1614C>T	c.(1612-1614)acC>acT	p.T538T	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTTATCTCATGGTTTTTTTGG	0.532000													74	113					0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	30032654	30032654	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:30032654G>A	ENST00000434693.2	+	14	1958	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	RBMS3_ENST00000396583.3_Missense_Mutation_p.D418N|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000452462.1_Missense_Mutation_p.D405N|RBMS3_ENST00000383766.2_Missense_Mutation_p.D403N|RBMS3_ENST00000456853.1_Missense_Mutation_p.D418N|RBMS3_ENST00000383767.2_Missense_Mutation_p.D421N|RBMS3_ENST00000273139.9_Missense_Mutation_p.D405N	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	421						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GATAGCAGTGGACACATCCAA	0.483000													46	61					0	0	1	0	0
AGR2	10551	broad.mit.edu	37	7	16841407	16841407	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:16841407G>A	ENST00000419304.2	-	2	166	c.14C>T	c.(13-15)cCa>cTa	p.P5L	AGR2_ENST00000419572.2_Missense_Mutation_p.P25L|AGR2_ENST00000401412.1_Missense_Mutation_p.P5L	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	5					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TGCTGACACTGGAATTTTCTC	0.483000													38	40					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876138	35876138	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:35876138G>A	ENST00000303115.3	+	8	1059	c.930G>A	c.(928-930)agG>agA	p.R310R	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	310					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGATTCATAGGGTGGATGACA	0.433000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						22	36					0	0	1	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122048	18122048	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:18122048G>A	ENST00000340650.3	-	1	803	c.790C>T	c.(790-792)Ccc>Tcc	p.P264S		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	264			P -> H (in EPM2).		proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			ACCCCTCGGGGATTGCACAGA	0.627000													72	36					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6061575	6061575	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:6061575G>A	ENST00000261405.5	-	49	8351	c.8097C>T	c.(8095-8097)caC>caT	p.H2699H		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2699					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCAGACACTTGTGTTCATCAA	0.493000													42	66					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170395319	170395319	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:170395319C>T	ENST00000523189.1	+	14	1812	c.1648C>T	c.(1648-1650)Ctg>Ttg	p.L550L		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	550					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTTGCAATTCTGTGGTTCTT	0.338000			T	TRD@	ALL								37	40					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81743843	81743843	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:81743843G>A	ENST00000555447.1	-	6	2224	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	STON2_ENST00000267540.2_Silent_p.F604F	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	604	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GCCCAGACAGGAAACTCAGGA	0.507000													43	71					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30866542	30866542	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:30866542G>A	ENST00000215812.4	-	2	172	c.82C>T	c.(82-84)Cct>Tct	p.P28S	SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000540910.1_5'UTR	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	28						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GGCAGGGCAGGAAGCACATCC	0.552000													39	52					0	0	1	0	0
COX10-AS1	100874058	broad.mit.edu	37	17	13927814	13927814	+	RNA	SNP	A	A	T	rs141406384	by1000genomes	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:13927814A>T	ENST00000602743.1	-	0	224																											TTGGTGGGAGACGCTCAAGAG	0.512000													3	0					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292522	62292522	+	Missense_Mutation	SNP	G	G	A	rs150068835		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:62292522G>A	ENST00000378024.4	-	5	9641	c.9367C>T	c.(9367-9369)Cct>Tct	p.P3123S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3123					nervous system development	nucleus	protein binding	p.P3123S(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACGTCAGGAACTTTCATG	0.458000													129	175					0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233274326	233274326	+	Missense_Mutation	SNP	G	G	A	rs137976988		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:233274326G>A	ENST00000295453.3	+	11	1395	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	448					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CCCCTGGACGGAGAGACCCAC	0.637000													6	17					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448837	89448837	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:89448837A>G	ENST00000399794.2	-	3	1388	c.673T>C	c.(673-675)Tac>Cac	p.Y225H	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.Y225H|CCBL2_ENST00000446900.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	225							nucleotide binding|RNA binding										GAACTTGGGTAATCTCTGCTT	0.448000													46	47					0	0	1	0	0
CDK5	1020	broad.mit.edu	37	7	150751372	150751372	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:150751372G>A	ENST00000485972.1	-	11	1400	c.719C>T	c.(718-720)cCg>cTg	p.P240L	CDK5_ENST00000297518.4_Missense_Mutation_p.P208L	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	240	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CGGGTACATCGGATAGGGCTG	0.597000													12	45					0	0	1	0	0
GPR174	84636	broad.mit.edu	37	X	78426877	78426877	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:78426877C>T	ENST00000276077.1	+	1	409	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	125						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GTACCCCTTTCGCTTCCATGA	0.458000										HNSCC(63;0.18)			131	8					0	0	1	0	0
EREG	2069	broad.mit.edu	37	4	75250501	75250501	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:75250501G>A	ENST00000244869.2	+	5	652	c.486G>A	c.(484-486)ggG>ggA	p.G162G	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	162					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			TTACCTCAGGGGATCCAGAGT	0.378000													36	39					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124998089	124998089	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:124998089G>A	ENST00000360647.4	-	6	947	c.462C>T	c.(460-462)atC>atT	p.I154I	ZNF148_ENST00000484491.1_Silent_p.I154I|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Silent_p.I154I|ZNF148_ENST00000485866.1_Silent_p.I154I|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	154					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTATTGTAAGGATCTAGTTCA	0.308000													16	38					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38275833	38275833	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:38275833C>A	ENST00000447712.2	-	10	2284	c.1343G>T	c.(1342-1344)cGg>cTg	p.R448L	FGFR1_ENST00000356207.5_Missense_Mutation_p.R359L|FGFR1_ENST00000335922.5_Missense_Mutation_p.R438L|FGFR1_ENST00000326324.6_Missense_Mutation_p.R357L|FGFR1_ENST00000397108.4_Missense_Mutation_p.R446L|FGFR1_ENST00000532791.1_Missense_Mutation_p.R446L|FGFR1_ENST00000397091.5_Missense_Mutation_p.R446L|FGFR1_ENST00000397103.1_Missense_Mutation_p.R359L|FGFR1_ENST00000397113.2_Missense_Mutation_p.R446L|FGFR1_ENST00000341462.5_Missense_Mutation_p.R448L|FGFR1_ENST00000425967.3_Missense_Mutation_p.R479L	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	448					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GGAGGAGAGCCGTGATGGCCG	0.577000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						22	28					1.64113e-05	1.64992e-05	1	1	0
DGKB	1607	broad.mit.edu	37	7	14613939	14613939	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:14613939G>A	ENST00000403951.2	-	20	2090	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	DGKB_ENST00000399322.3_Silent_p.I557I|DGKB_ENST00000258767.5_Silent_p.I557I|DGKB_ENST00000402815.1_Silent_p.I556I|DGKB_ENST00000407950.1_Silent_p.I549I|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Silent_p.I557I|DGKB_ENST00000444700.2_Silent_p.I538I			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	557	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGTCCAACATGATTTCTGTGC	0.368000													74	55					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134578	128134578	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:128134578C>T	ENST00000368250.1	-	5	1469	c.971G>A	c.(970-972)gGa>gAa	p.G324E	THEMIS_ENST00000537166.1_Missense_Mutation_p.G368E|THEMIS_ENST00000368248.2_Missense_Mutation_p.G403E|THEMIS_ENST00000543064.1_Missense_Mutation_p.G403E			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	403	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTTTTTTATTCCCTCACAGAG	0.468000													17	1					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49700786	49700786	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:49700786C>T	ENST00000296452.4	+	7	11309	c.11195C>T	c.(11194-11196)cCc>cTc	p.P3732L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3732					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CACTCCGGGCCCGCTGCACTG	0.622000													33	52					0	0	1	0	0
ZNF524	147807	broad.mit.edu	37	19	56114179	56114179	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:56114179C>T	ENST00000591046.1	+	1	935	c.701C>T	c.(700-702)cCa>cTa	p.P234L	ZNF524_ENST00000301073.3_Missense_Mutation_p.P234L			Q96C55	ZN524_HUMAN	zinc finger protein 524	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GCACCAGATCCAGGGTCTGAA	0.687000													10	10					0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	265765	265765	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:265765G>A	ENST00000419098.1	-	4	891	c.881C>T	c.(880-882)gCc>gTc	p.A294V		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						CTTATGTTTGGCAACATTTGA	0.378000													12	3					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13814813	13814813	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:13814813G>A	ENST00000265104.4	-	43	7235	c.7131C>T	c.(7129-7131)ttC>ttT	p.F2377F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2377	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATGAGGCTCGAAAATGATCT	0.418000									Kartagener syndrome				31	29					0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103431219	103431219	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:103431219C>T	ENST00000412401.2	+	5	687	c.482C>T	c.(481-483)tCa>tTa	p.S161L	TMEM182_ENST00000409528.1_Missense_Mutation_p.S65L|TMEM182_ENST00000409173.1_Missense_Mutation_p.S118L|TMEM182_ENST00000486293.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	161						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						ATCCTATTTTCATTGGTGGTG	0.443000													14	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179529403	179529403	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:179529403C>T	ENST00000589042.1	-	167	36404	c.36180G>A	c.(36178-36180)aaG>aaA	p.K12060K	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10208	Ig-like 80.						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)			GGACTTCAGGCTTTCTGAGAG	0.388000													44	18					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3018759	3018759	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:3018759G>A	ENST00000216877.6	+	23	2762	c.2362G>A	c.(2362-2364)Gat>Aat	p.D788N	PTPRA_ENST00000425918.2_Missense_Mutation_p.D808N|PTPRA_ENST00000318266.5_Missense_Mutation_p.D788N|PTPRA_ENST00000356147.3_Missense_Mutation_p.D788N|PTPRA_ENST00000399903.2_Missense_Mutation_p.D797N|PTPRA_ENST00000380393.3_Missense_Mutation_p.D797N|PTPRA_ENST00000358719.4_Missense_Mutation_p.D653N	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	797	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGCATTCTCAGATTATGCCAA	0.413000													53	82					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004808	248004808	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:248004808G>A	ENST00000355784.2	-	1	446	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R131S(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGGGTAGCGGAGTGGGCTG	0.587000													15	41					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62200240	62200240	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:62200240G>A	ENST00000467148.1	-	5	1270	c.1201C>T	c.(1201-1203)Ctg>Ttg	p.L401L		NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TCTGGCATCAGGGAGGAGGGG	0.662000													32	49					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122630875	122630875	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:122630875C>T	ENST00000195173.4	-	20	3235	c.2932G>A	c.(2932-2934)Gac>Aac	p.D978N	SEMA5B_ENST00000451055.2_Missense_Mutation_p.D1034N|SEMA5B_ENST00000357599.3_Missense_Mutation_p.D980N			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	980	TSP type-1 5.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGGGCTCCGTCGTCAGTGCAC	0.647000													17	14					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174711	51174711	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:51174711C>T	ENST00000440970.1	-	2	1562	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.E474E|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	474					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGAATGGCCTCTCTCCGGTAT	0.512000													56	111					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032382	55032382	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:55032382G>A	ENST00000417545.2	+	2	137	c.51G>A	c.(49-51)atG>atA	p.M17I		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	1						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCAGAAACATGAATTCTGGAA	0.453000													104	134					0	0	1	0	0
ABHD11	83451	broad.mit.edu	37	7	73150988	73150988	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:73150988G>A	ENST00000222800.3	-	6	918	c.849C>T	c.(847-849)ttC>ttT	p.F283F	ABHD11_ENST00000437775.2_Silent_p.F276F|ABHD11_ENST00000395147.4_Silent_p.F226F|ABHD11_ENST00000458339.1_3'UTR	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	283							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGGCCCGAGGGAAGAGCCGCA	0.602000													54	41					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155527898	155527898	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:155527898T>C	ENST00000404648.3	-	8	1327	c.1088A>G	c.(1087-1089)aAc>aGc	p.N363S	FGG_ENST00000405164.1_Missense_Mutation_p.N371S|FGG_ENST00000407946.1_Missense_Mutation_p.N371S|FGG_ENST00000336098.3_Missense_Mutation_p.N363S	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	363	Fibrinogen C-terminal.		N -> K (in Bern-1; impaired polymerization).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTGACACTTGTTCATCCACCA	0.388000													69	103					0	0	1	0	0
MRPS10	55173	broad.mit.edu	37	6	42176656	42176656	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:42176656A>C	ENST00000053468.3	-	6	477	c.462T>G	c.(460-462)gaT>gaG	p.D154E		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	154					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			CCAAGTAGACATCTGCTGTGC	0.388000													69	46					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90107120	90107120	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:90107120C>T	ENST00000405460.2	+	74	16139	c.16043C>T	c.(16042-16044)aCt>aTt	p.T5348I	GPR98_ENST00000425867.2_Missense_Mutation_p.T1009I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5348					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGGATGATACTGGATTTGCA	0.378000													11	20					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39658667	39658667	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:39658667C>T	ENST00000246635.3	-	6	1249	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	KRT13_ENST00000587544.1_Silent_p.E401E|KRT13_ENST00000336861.3_Silent_p.E401E	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	401	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				AGGTGGCGATCTCCTGCTCCA	0.597000													99	108					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713311	30713311	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:30713311C>T	ENST00000295754.5	+	4	1018	c.636C>T	c.(634-636)ttC>ttT	p.F212F	TGFBR2_ENST00000359013.4_Silent_p.F237F	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	212					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TCATGGAGTTCAGCGAGCACT	0.537000													24	28					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367161	107367161	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:107367161T>C	ENST00000542196.1	-	1	790	c.748A>G	c.(748-750)Ata>Gta	p.I250V		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCATAGAATATTATGACCACA	0.418000													97	32					0	0	1	0	0
GPR87	53836	broad.mit.edu	37	3	151012751	151012751	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:151012751G>A	ENST00000260843.4	-	3	747	c.283C>T	c.(283-285)Cca>Tca	p.P95S	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	95						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCGAAATGGAAATGTCAGC	0.368000													29	34					0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16067851	16067851	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:16067851C>T	ENST00000332432.8	-	4	1137	c.938G>A	c.(937-939)cGa>cAa	p.R313Q		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	313						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ATTCACAGCTCGCCAGCGCTT	0.423000													12	21					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166824	19166824	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:19166824G>A	ENST00000375371.3	-	6	1810	c.1789C>T	c.(1789-1791)Cgc>Tgc	p.R597C		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	597					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCAGCCGAGCGAACTATGGGT	0.647000													44	71					0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66551833	66551833	+	Silent	SNP	T	T	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:66551833T>G	ENST00000592554.1	-	2	1178	c.456A>C	c.(454-456)ccA>ccC	p.P152P	FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	152						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GGAGCTGCAGTGGGGGGTCCA	0.547000													52	98					0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33583599	33583599	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:33583599C>T	ENST00000294517.6	+	11	1713	c.1126C>T	c.(1126-1128)Cta>Tta	p.L376L	ADC_ENST00000398167.1_Silent_p.L396L|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Silent_p.L396L|ADC_ENST00000373443.3_Silent_p.L376L	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	376					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	GCTGCCGCAACTACACGTAGG	0.627000													55	50					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116032619	116032619	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:116032619G>A	ENST00000603594.1	+	6	813	c.492G>A	c.(490-492)ggG>ggA	p.G164G	VWA2_ENST00000392982.3_Silent_p.G164G	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	164	VWFA 1.					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)		AGTCCCAGGGGGATGTGGCAC	0.547000													63	43					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117923448	117923448	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:117923448G>A	ENST00000425217.1	-	15	2235	c.2181C>T	c.(2179-2181)atC>atT	p.I727I	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Silent_p.I756I	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	756	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATCCAAAACGATTTTGGCAT	0.453000													33	45					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590839	140590839	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140590839C>T	ENST00000239450.2	+	1	2549	c.2360C>T	c.(2359-2361)cCc>cTc	p.P787L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P450L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		787					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P787L(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGAAAATCCCCCATTTCAG	0.373000													17	40					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64518882	64518882	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:64518882G>A	ENST00000498707.1	-	38	6020	c.5678C>T	c.(5677-5679)tCa>tTa	p.S1893L	ADAMTS9_ENST00000467257.1_5'UTR|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.S1865L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1893	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATTCCCTTGTGATATCCATCT	0.413000													40	53					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115327256	115327256	+	Translation_Start_Site	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:115327256G>A	ENST00000537906.1	+	0	134				HABP2_ENST00000351270.3_Silent_p.L26L|HABP2_ENST00000460714.1_3'UTR|HABP2_ENST00000541666.1_Silent_p.L26L|HABP2_ENST00000542051.1_De_novo_Start_InFrame			Q14520	HABP2_HUMAN	hyaluronan binding protein 2						cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AGTTCTCCCTGATGTCTTTAT	0.542000													28	12					0	0	1	0	0
FASTK	10922	broad.mit.edu	37	7	150776715	150776715	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:150776715C>T	ENST00000540185.1	-	2	879	c.275G>A	c.(274-276)gGg>gAg	p.G92E	FASTK_ENST00000353841.2_Intron|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000297532.6_Missense_Mutation_p.G126E|FASTK_ENST00000482571.1_Missense_Mutation_p.G126E			Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	126					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		TGGCCGAGACCCCAAGAGCTG	0.642000													16	32					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105405219	105405219	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:105405219C>T	ENST00000351513.2	-	8	1368	c.1235_splice	c.e8-1	p.R412_splice	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	412					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.?(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGAGATAGTCCTATATTTGT	0.368000													40	109					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241261968	241261968	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:241261968G>A	ENST00000366565.1	-	3	554	c.173C>T	c.(172-174)tCt>tTt	p.S58F	RGS7_ENST00000331110.7_Missense_Mutation_p.S32F|RGS7_ENST00000366562.4_Missense_Mutation_p.S58F|RGS7_ENST00000366563.1_Missense_Mutation_p.S58F|RGS7_ENST00000407727.1_Missense_Mutation_p.S58F|RGS7_ENST00000366564.1_Missense_Mutation_p.S58F|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000401882.1_Missense_Mutation_p.S58F|RGS7_ENST00000348120.2_Missense_Mutation_p.S58F	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	58	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AGACTTACCAGAGAAGACGCT	0.398000													14	25					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3712658	3712658	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:3712658C>A	ENST00000324932.7	-	28	4793	c.4373G>T	c.(4372-4374)gGc>gTc	p.G1458V	NUP98_ENST00000359171.4_Missense_Mutation_p.G1458V|NUP98_ENST00000355260.3_Missense_Mutation_p.G1458V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1475					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TATCACACAGCCAGAACCCTC	0.448000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								31	38					4.17593e-13	4.20796e-13	1	1	0
FRMPD2	143162	broad.mit.edu	37	10	49392633	49392633	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:49392633C>T	ENST00000374201.3	-	20	2862	c.2560G>A	c.(2560-2562)Gaa>Aaa	p.E854K	FRMPD2_ENST00000407470.4_Missense_Mutation_p.E822K|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E829K	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	854	PDZ 1.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATAATTAATTCTATGTTGTCA	0.428000													16	27					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845215	107845215	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:107845215C>T	ENST00000285311.3	-	4	1381	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	DKK2_ENST00000513208.1_Missense_Mutation_p.E126K|DKK2_ENST00000510463.1_Missense_Mutation_p.E180K	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	226	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TGGAAAATTTCCAGCCCATGA	0.493000													93	65					0	0	1	0	0
RPP30	10556	broad.mit.edu	37	10	92662996	92662996	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:92662996C>T	ENST00000413330.1	+	13	981	c.946C>T	c.(946-948)Cat>Tat	p.H316Y	RPP30_ENST00000489806.1_3'UTR	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	0					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						tcagagagatcatactcccaa	0.353000													14	24					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445466	87445466	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:87445466G>A	ENST00000268616.4	-	12	2667	c.2450C>T	c.(2449-2451)cCg>cTg	p.P817L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	817					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GAACACGGACGGACCGGAGAA	0.652000													7	12					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303928	6303928	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:6303928C>T	ENST00000226760.1	+	8	2576	c.2406C>T	c.(2404-2406)atC>atT	p.I802I	WFS1_ENST00000503569.1_Silent_p.I802I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	802			I -> V.		endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCAAGGACATCGTGCTGCGGG	0.647000													28	31					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36228010	36228010	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:36228010G>A	ENST00000420124.1	+	33	7396	c.7396G>A	c.(7396-7398)Ggc>Agc	p.G2466S	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.G2466S																							GAGACTCCTGGGCATCCACCA	0.622000													6	19					0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25689424	25689424	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:25689424C>T	ENST00000377961.2	+	8	720	c.552C>T	c.(550-552)ttC>ttT	p.F184F	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	184	EF-hand 4.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGGAAAACTTCCTTCTCCAAT	0.373000													10	20					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117149095	117149095	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:117149095G>A	ENST00000003084.6	+	3	304	c.172G>A	c.(172-174)Gat>Aat	p.D58N	CFTR_ENST00000454343.1_Missense_Mutation_p.D58N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	58					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CAGAGAATGGGATAGAGAGCT	0.338000									Cystic Fibrosis				30	90					0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89657032	89657032	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:89657032G>A	ENST00000355754.6	-	6	925	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	276						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		ATTGCATAAGGAAATGCCTTT	0.413000													31	53					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713145	70713145	+	RNA	SNP	A	A	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:70713145A>T	ENST00000530196.1	-	0	1373					NR_003951.1																						CAACCACACCATTCCCACAGC	0.478000													24	55					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853448	12853448	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:12853448C>T	ENST00000332296.7	+	2	175	c.72C>T	c.(70-72)tcC>tcT	p.S24S		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	24										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCTTGTCCATCTCTGCCA	0.572000													70	36					0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60392341	60392341	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:60392341G>A	ENST00000371204.3	-	1	121	c.78C>T	c.(76-78)gtC>gtT	p.V26V		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	26					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					GCAGAAAGGCGACAGTGCCCA	0.632000													15	28					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667868	49667868	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:49667868G>A	ENST00000249601.4	-	5	814	c.518C>T	c.(517-519)cCc>cTc	p.P173L	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.P189L|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.P83L|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.P179L|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.P64L|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.P83L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	173	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACCAGCAGGGGCGCCAGGCG	0.652000													49	30					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955749	51955749	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:51955749C>T	ENST00000321424.3	-	7	1450	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G369R|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G353R	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	462					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCCTCCTGTCCCTGCGGGTCC	0.557000													57	39					0	0	1	0	0
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:5248941T>C	ENST00000256497.4	+	7	1454	c.1321T>C	c.(1321-1323)Ttt>Ctt	p.F441L	EDEM1_ENST00000445686.1_Missense_Mutation_p.F246L	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	441					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463000													4	128					0	0	1	0	0
POLE2	5427	broad.mit.edu	37	14	50131829	50131829	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:50131829T>A	ENST00000539565.2	-	7	769	c.551A>T	c.(550-552)aAa>aTa	p.K184I	POLE2_ENST00000554396.1_Missense_Mutation_p.K210I|POLE2_ENST00000216367.5_Missense_Mutation_p.K210I|POLE2_ENST00000556584.1_5'UTR	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	210					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					GGATATAGCTTTACTAAGGTC	0.294000													8	14					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109384259	109384259	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:109384259C>T	ENST00000283195.6	+	20	7390	c.7264C>T	c.(7264-7266)Cgt>Tgt	p.R2422C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2422	RanBD1 3.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTAGCTGTTCGTTTTAAACT	0.368000													117	371					0	0	1	0	0
SLC15A4	121260	broad.mit.edu	37	12	129299606	129299606	+	Nonsense_Mutation	SNP	G	G	A	rs78139023	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:129299606G>A	ENST00000266771.5	-	2	595	c.556C>T	c.(556-558)Cga>Tga	p.R186*	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	186					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TCCGGACCTCGATCTTTAACC	0.398000													60	67					0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	30032653	30032653	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:30032653G>A	ENST00000434693.2	+	14	1957	c.1257G>A	c.(1255-1257)gtG>gtA	p.V419V	RBMS3_ENST00000396583.3_Silent_p.V417V|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000452462.1_Silent_p.V404V|RBMS3_ENST00000383766.2_Silent_p.V402V|RBMS3_ENST00000456853.1_Silent_p.V417V|RBMS3_ENST00000383767.2_Silent_p.V420V|RBMS3_ENST00000273139.9_Silent_p.V404V	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	420						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				AGATAGCAGTGGACACATCCA	0.488000													47	62					0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21988617	21988617	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:21988617C>T	ENST00000292779.3	+	3	540	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	127										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GGCACATGCCCGGCCCAGCCT	0.657000													62	55					0	0	1	0	0
UBE2E2	7325	broad.mit.edu	37	3	23574054	23574054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:23574054C>T	ENST00000396703.1	+	5	550	c.370C>T	c.(370-372)Cga>Tga	p.R124*	UBE2E2_ENST00000425792.1_Nonsense_Mutation_p.R124*	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	124					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						GGTTACCTTCCGAACAAGAAT	0.313000													16	30					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247704	164247704	+	Translation_Start_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:164247704C>T	ENST00000296533.2	-	2	534	c.3G>A	c.(1-3)atG>atA	p.M1I	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	1					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGTTGAATTCATTTTGATTG	0.343000													22	20					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140737080	140737080	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140737080C>T	ENST00000571252.1	+	1	2313	c.2313C>T	c.(2311-2313)tcC>tcT	p.S771S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCTTCTCCCAACCCAGCT	0.552000													63	106					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148526910	148526910	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:148526910G>A	ENST00000320356.2	-	5	515	c.394C>T	c.(394-396)Cct>Tct	p.P132S	EZH2_ENST00000541220.1_Missense_Mutation_p.P123S|EZH2_ENST00000483967.1_Missense_Mutation_p.P123S|EZH2_ENST00000478654.1_Missense_Mutation_p.P123S|EZH2_ENST00000476773.1_Missense_Mutation_p.P123S|EZH2_ENST00000350995.2_Missense_Mutation_p.P93S|EZH2_ENST00000536783.1_Missense_Mutation_p.P23S|EZH2_ENST00000460911.1_Missense_Mutation_p.P132S	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	132	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.P132S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CCCATATAAGGAATGTTATGT	0.299000			Mis		DLBCL								14	26					0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128880634	128880634	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:128880634T>A	ENST00000371106.3	+	6	659	c.467T>A	c.(466-468)tTt>tAt	p.F156Y	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.F156Y	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	156					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CGTGTGGGTTTTGACCCCTTC	0.498000													148	7					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160156081	160156081	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:160156081C>T	ENST00000368081.4	+	21	3456	c.2985C>T	c.(2983-2985)ctC>ctT	p.L995L	ATP1A4_ENST00000470705.1_Silent_p.L131L	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	995				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTGGTGGCTCTGTGCCATTC	0.552000													290	171					0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128715270	128715270	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:128715270G>A	ENST00000296464.3	+	2	557	c.146G>A	c.(145-147)gGa>gAa	p.G49E	HSPA4L_ENST00000505726.1_Missense_Mutation_p.G23E|HSPA4L_ENST00000439123.2_Missense_Mutation_p.G80E|HSPA4L_ENST00000508776.1_Missense_Mutation_p.G49E	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	49					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CGAGCCATTGGAAATGCAGCA	0.328000													68	87					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038844	11038844	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:11038844G>A	ENST00000470054.1	-	0	1359									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCAGCAGAGGAACTAAGAGC	0.448000													26	310					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121930445	121930445	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:121930445C>T	ENST00000265922.3	-	8	1664	c.1203G>A	c.(1201-1203)ggG>ggA	p.G401G	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		401					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TTCCCCAAAACCCATTCTCAT	0.557000													9	24					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126542671	126542671	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:126542671C>T	ENST00000339582.2	-	6	1889	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	GRM8_ENST00000358373.3_Missense_Mutation_p.E361K|GRM8_ENST00000444921.2_Missense_Mutation_p.E361K|GRM8_ENST00000405249.1_Missense_Mutation_p.E361K|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	361					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCCCAGAATTCTGCAAACCAC	0.373000										HNSCC(24;0.065)			53	45					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205893592	205893592	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:205893592G>A	ENST00000367135.3	-	13	1528	c.1415C>T	c.(1414-1416)tCc>tTc	p.S472F	SLC26A9_ENST00000340781.4_Missense_Mutation_p.S472F|SLC26A9_ENST00000367134.2_Missense_Mutation_p.S472F	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	472						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAAGAAGGAGGAGAGGAAGCT	0.522000													24	51					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41414529	41414529	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:41414529C>T	ENST00000400454.1	-	32	5932	c.5455G>A	c.(5455-5457)Gaa>Aaa	p.E1819K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1819					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGGCGTGTTCGTAGGCCCTG	0.527000													44	45					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075465	76075465	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:76075465G>A	ENST00000395215.3	+	0	1105																											TGCGAAAGCAGGAGCAGAGGC	0.607000													93	113					0	0	1	0	0
PRSS37	136242	broad.mit.edu	37	7	141537835	141537835	+	Silent	SNP	G	G	A	rs149011966		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:141537835G>A	ENST00000350549.3	-	3	626	c.255C>T	c.(253-255)atC>atT	p.I85I	PRSS37_ENST00000438520.1_Silent_p.I85I	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	85	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.I85I(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						AGTAGCGGACGATCTGAATGG	0.507000													251	147					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137332423	137332423	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:137332423G>A	ENST00000316649.5	-	3	626	c.391C>T	c.(391-393)Cct>Tct	p.P131S	IL20RA_ENST00000541547.1_Missense_Mutation_p.P82S|IL20RA_ENST00000367746.3_Missense_Mutation_p.P131S|IL20RA_ENST00000367748.1_Intron|IL20RA_ENST00000468393.1_Intron	NM_014432.2	NP_055247.2	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	131	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TCTAAAAAAGGATAGAACCGT	0.408000													28	7					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870151	51870151	+	Missense_Mutation	SNP	G	G	A	rs151179191	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:51870151G>A	ENST00000371497.5	+	2	1041	c.154G>A	c.(154-156)Gag>Aag	p.E52K	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E49K|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E49K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	52					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGGGACGGACGAGGAGCTAGA	0.527000													15	29					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242273	18242273	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:18242273C>T	ENST00000377369.2	+	2	341	c.68C>T	c.(67-69)tCt>tTt	p.S23F	SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S23F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S23F	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	23					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						CGTGTTTTTTCTACTGAGACA	0.537000													23	54					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3165229	3165229	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:3165229C>T	ENST00000520002.1	-	26	4496	c.3941G>A	c.(3940-3942)gGa>gAa	p.G1314E	CSMD1_ENST00000400186.3_Missense_Mutation_p.G1314E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1313E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1314E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1314E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1313E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1313E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1314	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AATGGTCTTTCCTGGGTCTGC	0.438000													104	115					0	0	1	0	0
SLC37A2	219855	broad.mit.edu	37	11	124949030	124949030	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:124949030C>T	ENST00000403796.2	+	5	638	c.337C>T	c.(337-339)Ccg>Tcg	p.P113S	SLC37A2_ENST00000407458.1_Missense_Mutation_p.P113S|SLC37A2_ENST00000308074.4_Missense_Mutation_p.P113S|SLC37A2_ENST00000298280.5_Missense_Mutation_p.P113S	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	113					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GGAGCGGCTTCCGCTCCGTTA	0.547000													90	6					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25605104	25605104	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:25605104C>T	ENST00000329474.6	+	34	3985	c.3617C>T	c.(3616-3618)tCg>tTg	p.S1206L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1206					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTAGAACGGTCGGATGGAGGT	0.498000													7	8					0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23401729	23401729	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:23401729C>T	ENST00000216036.4	-	7	1154	c.958G>A	c.(958-960)Gag>Aag	p.E320K		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	320							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GTCTCCACCTCCATGGCACGG	0.617000													37	44					0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518385	161518385	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:161518385C>T	ENST00000367969.3	-	3	436	c.253G>A	c.(253-255)Gga>Aga	p.G85R	FCGR3A_ENST00000443193.1_Missense_Mutation_p.G84R|FCGR3A_ENST00000436743.1_Missense_Mutation_p.G49R|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000540048.1_Missense_Mutation_p.G49R	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	49	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAGTAGGCTCCCTGGCACTTC	0.537000													59	263					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196397273	196397273	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:196397273C>T	ENST00000367433.5	-	10	1047	c.946G>A	c.(946-948)Gat>Aat	p.D316N	KCNT2_ENST00000294725.8_Missense_Mutation_p.D316N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.D316N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	316						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTAAAAAATCCATAAGTAAA	0.378000													43	29					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377185	138377185	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:138377185C>T	ENST00000356818.2	+	4	1378	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	PPP1R26_ENST00000605660.1_Missense_Mutation_p.R277W|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R277W|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R277W|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R277W	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	277						nucleolus	protein binding										GGTGGTGCATCGGCAGGGCCT	0.542000													156	73					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091441	9091441	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9091441C>T	ENST00000397910.4	-	1	577	c.374G>A	c.(373-375)gGa>gAa	p.G125E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	125	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAACTCAATCCTGAAACCAT	0.502000													47	82					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174712	51174712	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:51174712T>C	ENST00000440970.1	-	2	1561	c.1130A>G	c.(1129-1131)gAg>gGg	p.E377G	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.E474G|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	474					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAATGGCCTCTCTCCGGTATG	0.512000													56	114					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139272290	139272290	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:139272290G>A	ENST00000298532.2	-	21	4357	c.3989C>T	c.(3988-3990)tCc>tTc	p.S1330F		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	1330	SNAPC2-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CACCACCAGGGAGGTGGCCTT	0.697000													17	41					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136340104	136340104	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:136340104G>A	ENST00000371899.4	-	6	983	c.906C>T	c.(904-906)ttC>ttT	p.F302F	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.F302F	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	302						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGGTGCTGTCGAAGATGGACT	0.711000													7	7					0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502024	91502024	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:91502024C>T	ENST00000266718.4	-	2	1187	c.733G>A	c.(733-735)Gga>Aga	p.G245R	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	245					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CCAGGTATTCCACTATCAGCC	0.383000													56	64					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137802956	137802956	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:137802956C>T	ENST00000239938.4	+	2	1090	c.818C>T	c.(817-819)cCc>cTc	p.P273L		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	273					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GACCAGAAGCCCTTCCAGGGC	0.632000													18	50					0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207619911	207619911	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:207619911C>T	ENST00000374412.3	-	5	1007	c.732G>A	c.(730-732)gaG>gaA	p.E244E	MDH1B_ENST00000449792.1_Silent_p.E146E|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Silent_p.E244E	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	244					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GAGCATTTTTCTCTATCAGGT	0.507000													65	30					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113538706	113538706	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:113538706G>A	ENST00000505019.1	-	6	2617	c.2492C>T	c.(2491-2493)tCg>tTg	p.S831L	C4orf21_ENST00000309071.5_Missense_Mutation_p.S831L|C4orf21_ENST00000445203.2_Missense_Mutation_p.S800L	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	831										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTCACATAGCGACTTTAAAAT	0.368000													18	16					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325794	79325794	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:79325794G>A	ENST00000428286.1	-	8	1519	c.319C>T	c.(319-321)Ctt>Ttt	p.L107F	PRUNE2_ENST00000376718.3_Missense_Mutation_p.L466F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	466					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TAGGAGTCAAGCCCTGGGAGA	0.592000													49	25					0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095681	145095681	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:145095681A>C	ENST00000377470.3	+	3	1081	c.979A>C	c.(979-981)Acc>Ccc	p.T327P	SPATC1_ENST00000447830.2_Missense_Mutation_p.T327P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	327										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			cacctcccccaccacctcccc	0.667000													3	29					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626632	142626632	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:142626632C>T	ENST00000265310.1	-	4	726	c.378G>A	c.(376-378)gtG>gtA	p.V126V	TRPV5_ENST00000442623.1_Silent_p.V126V	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	126					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CATTCTGGTTCACAACAGCGA	0.622000													131	101					0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111542364	111542364	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:111542364C>T	ENST00000354925.2	-	6	2051	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	PITX2_ENST00000394598.2_Missense_Mutation_p.E116K|PITX2_ENST00000355080.5_Missense_Mutation_p.E70K|PITX2_ENST00000557119.2_Missense_Mutation_p.E123K|PITX2_ENST00000394595.3_Intron|PITX2_ENST00000306732.3_Missense_Mutation_p.E123K	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	116					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCGATTTCTTCGCGTGTGGAC	0.617000													18	20					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38954573	38954573	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:38954573C>T	ENST00000306658.7	-	3	669	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	202	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.E202*(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				AGCGTCAGCTCGTCCAGGACT	0.498000													39	33					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224756	3224756	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:3224756G>A	ENST00000520002.1	-	21	3471	c.2916C>T	c.(2914-2916)atC>atT	p.I972I	CSMD1_ENST00000400186.3_Silent_p.I972I|CSMD1_ENST00000539096.1_Silent_p.I971I|CSMD1_ENST00000602557.1_Silent_p.I972I|CSMD1_ENST00000602723.1_Silent_p.I972I|CSMD1_ENST00000542608.1_Silent_p.I971I|CSMD1_ENST00000537824.1_Silent_p.I971I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	972	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGTGTGAAAGATCATTTGAA	0.557000													8	16					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2719726	2719726	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:2719726C>T	ENST00000399655.1	+	28	3843	c.3578C>T	c.(3577-3579)gCc>gTc	p.A1193V	CACNA1C_ENST00000347598.4_Missense_Mutation_p.A1213V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1193V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1193V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1193V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1193V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1193V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1193V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1193V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1193V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1193V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1193V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1193V|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A1193V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1213V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1193V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1193V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1193V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1193V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1193V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1218V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1193V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1193V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1213	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTGGAATACGCCCTCAAGGCC	0.592000													66	58					0	0	1	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882446	78882446	+	Missense_Mutation	SNP	C	C	T	rs61742337		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:78882446C>T	ENST00000299565.5	+	5	913	c.713C>T	c.(712-714)cCg>cTg	p.P238L	RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	238					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.P238Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TGCTGGTATCCGTATGTCACT	0.408000													55	61					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140121	56140121	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:56140121C>T	ENST00000319441.4	+	9	1508	c.1344C>T	c.(1342-1344)ctC>ctT	p.L448L	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Silent_p.L131L	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	448					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.L448L(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATGAAGCTCTCAGCTGGCAAC	0.463000													53	65					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752678	62752678	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:62752678G>A	ENST00000331425.6	-	0	757					NR_003952.1																						TCTCCAGTATGAATTCTCTTA	0.428000													40	100					0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6950463	6950463	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:6950463G>A	ENST00000229264.3	+	3	417	c.12G>A	c.(10-12)atG>atA	p.M4I	GNB3_ENST00000435982.2_Missense_Mutation_p.M4I	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	4					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TGGGGGAGATGGAGCAACTGC	0.612000													16	11					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038265	16038265	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:16038265G>A	ENST00000326742.7	-	3	373	c.372C>T	c.(370-372)ttC>ttT	p.F124F	CYP4F11_ENST00000402119.3_Silent_p.F124F|CYP4F11_ENST00000248041.7_Silent_p.F124F			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	124					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGAAGCCATAGAAAATCATAT	0.527000													109	168					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294019	25294019	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:25294019G>A	ENST00000400358.4	+	19	2160	c.2103G>A	c.(2101-2103)ggG>ggA	p.G701G	SGSM1_ENST00000400359.4_Silent_p.G756G	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	756	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						TCCCCAATGGGAACCTAGTGA	0.557000													16	16					0	0	1	0	0
ISL2	64843	broad.mit.edu	37	15	76633518	76633518	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:76633518C>T	ENST00000290759.4	+	5	999	c.839C>T	c.(838-840)cCc>cTc	p.P280L	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	280						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GCGGGCAGTCCCATCCGCCAT	0.657000													20	21					0	0	1	0	0
CABP7	164633	broad.mit.edu	37	22	30124621	30124621	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:30124621G>A	ENST00000216144.3	+	3	597	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	86	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			TCCACCAGGTGATGGTCAAGT	0.572000													27	28					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33565766	33565766	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:33565766C>T	ENST00000262873.7	+	3	176	c.84C>T	c.(82-84)ctC>ctT	p.L28L		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	0			P -> T (in dbSNP:rs17092199).			membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCTTGAACCTCCAGGGTTTCC	0.607000													117	146					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73012771	73012771	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:73012771C>T	ENST00000261180.4	+	13	2383	c.2287C>T	c.(2287-2289)Cct>Tct	p.P763S		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	763					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGCTCTTTATCCTCTAGATAA	0.363000													19	27					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23763933	23763933	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:23763933C>A	ENST00000336689.3	-	13	1179	c.1135G>T	c.(1135-1137)Gag>Tag	p.E379*	ASAP3_ENST00000437606.2_Nonsense_Mutation_p.E370*|ASAP3_ENST00000484906.1_5'UTR	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	379	PH.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CACTCGTGCTCGTCCTCTGCC	0.662000													4	127					1	1	1	1	0
PLB1	151056	broad.mit.edu	37	2	28719005	28719005	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:28719005C>T	ENST00000422425.2	+	1	68	c.24C>T	c.(22-24)ttC>ttT	p.F8F	PLB1_ENST00000327757.5_Silent_p.F8F	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	8					lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGGCATTTTCCTCCTGGAGC	0.597000													60	137					0	0	1	0	0
C6orf203	51250	broad.mit.edu	37	6	107361380	107361380	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:107361380T>C	ENST00000443043.1	+	3	1106	c.431T>C	c.(430-432)gTt>gCt	p.V144A	C6orf203_ENST00000405204.2_Missense_Mutation_p.V139A|C6orf203_ENST00000311381.5_Missense_Mutation_p.V139A|C6orf203_ENST00000489790.1_3'UTR	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	139										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		GAAAAAGCAGTTCAGTCTTTT	0.413000													47	3					0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420622	55420622	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:55420622G>A	ENST00000242994.3	+	2	777	c.399G>A	c.(397-399)agG>agA	p.R133R		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	133	Helix-loop-helix motif.				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GACTGGCCAGGAACTATATTT	0.493000													27	36					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10078752	10078752	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:10078752G>A	ENST00000264828.3	-	60	4403	c.4318C>T	c.(4318-4320)Ccc>Tcc	p.P1440S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1440	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGACCAGGGGGACCCTAGGAA	0.587000													19	24					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141889002	141889002	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:141889002C>T	ENST00000306799.3	-	2	1163	c.510G>A	c.(508-510)atG>atA	p.M170I	RNF150_ENST00000515673.1_Missense_Mutation_p.M170I|RNF150_ENST00000507500.1_Missense_Mutation_p.M170I|RNF150_ENST00000420921.2_Missense_Mutation_p.M29I|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000379512.2_Missense_Mutation_p.M29I	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	170	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GCTCAGGAATCATTATGGCCA	0.478000													42	49					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13839514	13839514	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:13839514C>T	ENST00000265104.4	-	35	5937	c.5833G>A	c.(5833-5835)Gaa>Aaa	p.E1945K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1945	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTAAAAATTCATTCTGGTAT	0.428000									Kartagener syndrome				43	66					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167673923	167673923	+	Silent	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:167673923T>C	ENST00000519204.1	+	26	5734	c.5616T>C	c.(5614-5616)aaT>aaC	p.N1872N	TENM2_ENST00000403607.2_Silent_p.N1817N|TENM2_ENST00000518659.1_Silent_p.N1993N|TENM2_ENST00000520394.1_Silent_p.N1754N|TENM2_ENST00000545108.1_Silent_p.N1992N					teneurin transmembrane protein 2																		CTGAAAGCAATGCTTCGGTCA	0.552000													36	37					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53454394	53454394	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:53454394G>A	ENST00000357666.4	-	5	934	c.634C>T	c.(634-636)Ctc>Ttc	p.L212F	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.L212F|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GAAGAATGGAGGAAATTCTTC	0.373000													30	33					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124266317	124266317	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:124266317C>T	ENST00000368984.3	+	4	1016	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	296	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CCACCGGGATCGTGAGCACCA	0.617000													45	109					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155236972	155236972	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:155236972C>T	ENST00000357232.3	-	15	3822	c.3823G>A	c.(3823-3825)Gaa>Aaa	p.E1275K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1275	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACTGAGGCTTCATACAGGTGC	0.418000													21	15					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760148	54760148	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:54760148C>T	ENST00000450632.1	-	4	463	c.386G>A	c.(385-387)gGa>gAa	p.G129E	LILRB5_ENST00000449561.2_Missense_Mutation_p.G138E|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Missense_Mutation_p.G138E			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	138	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCACATTTCCTCCTGAGGC	0.542000													53	62					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70522525	70522525	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:70522525G>A	ENST00000381269.2	-	4	2647	c.1894C>T	c.(1894-1896)Ctg>Ttg	p.L632L	SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000534137.1_Silent_p.L632L|SLC8A3_ENST00000357887.3_Silent_p.L633L|SLC8A3_ENST00000528359.1_Silent_p.L633L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	632					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGAGATAACAGGAGCGCTGTT	0.408000													7	9					0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11873192	11873192	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:11873192G>A	ENST00000396516.2	-	3	333	c.136C>T	c.(136-138)Ctt>Ttt	p.L46F	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.L46F|ZC3H7A_ENST00000575170.1_5'UTR			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	46						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TCATTAAAAAGATTTCTCACG	0.323000													16	27					0	0	1	0	0
ATP5SL	55101	broad.mit.edu	37	19	41944212	41944212	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:41944212G>A	ENST00000221943.9	-	2	131	c.126C>T	c.(124-126)ctC>ctT	p.L42L	ATP5SL_ENST00000589970.1_Silent_p.L42L|ATP5SL_ENST00000597457.1_Silent_p.L42L|ATP5SL_ENST00000590641.2_Silent_p.L48L|ATP5SL_ENST00000592922.2_Silent_p.L42L|ATP5SL_ENST00000595425.1_Silent_p.L42L|ATP5SL_ENST00000417807.3_Silent_p.L48L|ATP5SL_ENST00000438807.3_Silent_p.L42L|ATP5SL_ENST00000301183.11_Silent_p.L48L	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	42										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						TCAGGAACTGGAGTATTGTCC	0.537000													57	53					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542347	55542347	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:55542347G>A	ENST00000220676.1	+	4	6053	c.5905G>A	c.(5905-5907)Gaa>Aaa	p.E1969K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1969					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTGTTCAGGGAAGAGAACAA	0.308000													16	22					0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74618229	74618229	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:74618229G>A	ENST00000340360.6	-	9	1053	c.722C>T	c.(721-723)tCc>tTc	p.S241F	XRRA1_ENST00000321448.8_Missense_Mutation_p.S8F|RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000527087.1_Missense_Mutation_p.S241F	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	241					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						ACTGGGGTTGGAGAGTCTGTT	0.557000													77	102					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41009898	41009898	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:41009898C>T	ENST00000352632.3	+	12	1610	c.1524C>T	c.(1522-1524)gcC>gcT	p.A508A	SPTBN4_ENST00000344104.3_Silent_p.A508A|SPTBN4_ENST00000598249.1_Silent_p.A508A|SPTBN4_ENST00000338932.3_Silent_p.A508A|SPTBN4_ENST00000595535.1_Silent_p.A508A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	508					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGTGGCAGCCCAGCGTGACA	0.662000													37	28					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249865	140249865	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140249865C>T	ENST00000398640.2	+	1	1177	c.1177C>T	c.(1177-1179)Ccc>Tcc	p.P393S	PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCACGTTCCCTTCAAGCT	0.597000													76	104					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122261735	122261735	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:122261735C>T	ENST00000334010.7	-	5	1325	c.904G>A	c.(904-906)Gag>Aag	p.E302K	CADPS2_ENST00000412584.2_Missense_Mutation_p.E302K|CADPS2_ENST00000313070.7_Missense_Mutation_p.E302K|CADPS2_ENST00000449022.2_Missense_Mutation_p.E302K	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	302					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TACATATTCTCCATATCTTTT	0.289000													15	40					0	0	1	0	0
IL21	59067	broad.mit.edu	37	4	123536859	123536859	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:123536859C>T	ENST00000264497.3	-	3	395	c.338G>A	c.(337-339)gGg>gAg	p.G113E		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	106					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						CTGTCTTCTCCCTGCATTTGT	0.348000													25	69					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848296	54848296	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:54848296C>T	ENST00000291759.4	-	6	1127	c.1071G>A	c.(1069-1071)aaG>aaA	p.K357K	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	357	Ig-like C2-type 4.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTGCCCCCTCCTTGGTCAGAA	0.602000													83	89					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51196403	51196403	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:51196403G>A	ENST00000245441.5	-	29	6106	c.5916C>T	c.(5914-5916)tcC>tcT	p.S1972S	NIN_ENST00000324330.9_3'UTR|NIN_ENST00000382043.4_Silent_p.S1259S|NIN_ENST00000382041.3_Silent_p.S1972S|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000453196.1_Silent_p.S1972S|NIN_ENST00000530997.2_Silent_p.S1972S	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1972					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AAGCATGAGGGGACGGGCTAG	0.587000			T	PDGFRB	MPD								8	14					0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008221	32008221	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:32008221G>A	ENST00000418967.2	+	8	1136	c.978G>A	c.(976-978)ctG>ctA	p.L326L	CYP21A2_ENST00000435122.2_Silent_p.L296L	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	325					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						ACCACGAACTGGGCCCTGGTG	0.677000													33	50					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844304	131844304	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:131844304C>T	ENST00000359827.3	-	25	5550	c.4588G>A	c.(4588-4590)Gag>Aag	p.E1530K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1530K			Q9HCM2	PLXA4_HUMAN	plexin A4	1530						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGAATCTTCTCCTTGACCTGA	0.547000													313	186					0	0	1	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17308499	17308499	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:17308499C>T	ENST00000425038.1	+	0	136					NR_003607.1																						TCAACTGGTTCAAAAGCCTCC	0.408000													4	8					0	0	1	0	0
RHEBL1	121268	broad.mit.edu	37	12	49462839	49462839	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:49462839A>G	ENST00000301068.6	-	2	342	c.103T>C	c.(103-105)Tac>Cac	p.Y35H		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	35					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			breast(2)|large_intestine(2)|lung(5)	9						GTAGGATCGTAGCCTTCCGAG	0.498000													103	97					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926745	157926745	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:157926745G>A	ENST00000389413.3	-	9	1283	c.1180C>T	c.(1180-1182)Cgt>Tgt	p.R394C	PTPRN2_ENST00000404321.2_Missense_Mutation_p.R417C|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R356C|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R394C|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R377C	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	394						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCACTCAGACGATGGACCTGA	0.597000													55	38					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166152597	166152597	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:166152597G>A	ENST00000357398.3	+	2	554	c.264G>A	c.(262-264)aaG>aaA	p.K88K	SCN2A_ENST00000375437.2_Silent_p.K88K|SCN2A_ENST00000375427.2_Silent_p.K88K|SCN2A_ENST00000283256.6_Silent_p.K88K			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	88					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATATCAATAAGAAAGTGAGTT	0.463000													23	30					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57209873	57209873	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:57209873G>A	ENST00000343433.6	-	10	1534	c.1454C>T	c.(1453-1455)tCc>tTc	p.S485F	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	485										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTCCGAGATGGAACTTGTCTT	0.428000													46	59					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9036072	9036072	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:9036072C>T	ENST00000383836.3	-	19	2790	c.2363G>A	c.(2362-2364)gGc>gAc	p.G788D	SRGAP3_ENST00000360413.3_Missense_Mutation_p.G764D	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	788					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCATCCACGCCGTTGTGCCG	0.572000			T	RAF1	pilocytic astrocytoma								65	83					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115767075	115767075	+	Silent	SNP	C	C	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:115767075C>G	ENST00000264363.2	-	10	2697	c.2019G>C	c.(2017-2019)tcG>tcC	p.S673S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	673	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.S673S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GAGCTTCTTCCGAATGGAAGT	0.448000													36	39					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68053856	68053856	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:68053856C>A	ENST00000417684.2	+	12	1411	c.823C>A	c.(823-825)Cac>Aac	p.H275N	PLEKHH1_ENST00000329153.5_Silent_p.P1333P			Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	266						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TGAACCCCCCCACCAACCCAC	0.502000													3	33					0.115264	0.115528	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103352442	103352442	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:103352442C>T	ENST00000358392.2	-	63	5132	c.4815G>A	c.(4813-4815)atG>atA	p.M1605I	COL11A1_ENST00000370096.3_Missense_Mutation_p.M1593I|COL11A1_ENST00000512756.1_Missense_Mutation_p.M1477I|COL11A1_ENST00000353414.4_Missense_Mutation_p.M1554I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1593	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGAAATTTCATATGCTCAA	0.408000													62	78					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261908	125261908	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:125261908C>T	ENST00000431078.1	+	8	1463	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	367	Laminin G-like 2.				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)		ACAGATTGTGCCCATCACATT	0.458000													39	51					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83183800	83183800	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:83183800G>A	ENST00000398309.2	-	18	2469	c.1999C>T	c.(1999-2001)Ctt>Ttt	p.L667F	DLG2_ENST00000330014.6_Missense_Mutation_p.L588F|DLG2_ENST00000537455.1_Missense_Mutation_p.L417F|DLG2_ENST00000376106.3_Missense_Mutation_p.L131F|DLG2_ENST00000532653.1_Missense_Mutation_p.L649F|DLG2_ENST00000543673.1_Missense_Mutation_p.L772F|DLG2_ENST00000280241.8_Missense_Mutation_p.L706F|DLG2_ENST00000376104.2_Missense_Mutation_p.L772F|DLG2_ENST00000418306.2_Missense_Mutation_p.L546F|DLG2_ENST00000404783.3_Missense_Mutation_p.L145F|DLG2_ENST00000524982.1_Missense_Mutation_p.L663F|DLG2_ENST00000426717.2_Missense_Mutation_p.L131F|DLG2_ENST00000531015.1_Missense_Mutation_p.L634F	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	667						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCATAGGAAAGAATGAGGTCT	0.433000													44	35					0	0	1	0	0
CD247	919	broad.mit.edu	37	1	167407857	167407857	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:167407857C>T	ENST00000392122.3	-	4	394	c.250G>A	c.(250-252)Gat>Aat	p.D84N	CD247_ENST00000362089.5_Missense_Mutation_p.D84N|CD247_ENST00000483825.1_5'UTR	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	84	ITAM 1.				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			TCCAAAACATCGTACTCCTCT	0.552000													81	183					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62417062	62417062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:62417062G>A	ENST00000330574.2	-	2	542	c.490C>T	c.(490-492)Cag>Tag	p.Q164*		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	164					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GGAACACGCTGGTGCTGGCCT	0.552000													22	28					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640966	57640966	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:57640966C>T	ENST00000254181.4	+	4	1377	c.923C>T	c.(922-924)tCt>tTt	p.S308F	USP29_ENST00000598197.1_Missense_Mutation_p.S308F	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	308					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCAATTCCATCTTTTGCTGAT	0.433000													44	31					0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005187	1005187	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:1005187G>A	ENST00000234389.3	+	3	1706	c.1687G>A	c.(1687-1689)Gcc>Acc	p.A563T	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	563					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ACGGGACACGGCCTCACCCAT	0.642000													40	39					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70932725	70932725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:70932725G>A	ENST00000334414.6	-	27	5892	c.5848C>T	c.(5848-5850)Cga>Tga	p.R1950*	PTPRB_ENST00000261266.5_Nonsense_Mutation_p.R1732*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.R1642*|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.R1642*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R1862*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.R1642*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1732	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1950*(1)|p.R1732*(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGTTGTATCGATTTTTCCCT	0.383000													6	22					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88365902	88365902	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:88365902G>A	ENST00000518476.1	+	10	1242	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	397										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GGAAACTTAAGGAGAAGGAGT	0.328000													42	13					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81225607	81225607	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:81225607G>A	ENST00000394685.3	+	23	3234	c.2815G>A	c.(2815-2817)Gga>Aga	p.G939R	KIAA1199_ENST00000220244.3_Missense_Mutation_p.G939R|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G939R|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	939										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGTGTTCTTCGGAGAGCCTGG	0.557000													20	18					0	0	1	0	0
ZNF728	388523	broad.mit.edu	37	19	23159845	23159845	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:23159845C>T	ENST00000594710.1	-	4	439	c.294G>A	c.(292-294)gtG>gtA	p.V98V		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		TTCTCAATATCACTTTTTGGA	0.328000													5	8					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71489744	71489744	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:71489744C>T	ENST00000296755.7	+	5	860	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	188						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAGCTTAACCCTGTTCTGTCC	0.418000													35	47					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94899428	94899428	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:94899428G>A	ENST00000357742.4	+	8	1068	c.1068G>A	c.(1066-1068)ggG>ggA	p.G356G	MCTP2_ENST00000451018.3_Silent_p.G356G|MCTP2_ENST00000557742.1_5'UTR|MCTP2_ENST00000543482.1_Silent_p.G356G|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	356	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTGGAACGGGATTATAAGTA	0.393000													48	72					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130493174	130493174	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:130493174G>A	ENST00000373289.3	+	14	2192	c.2112G>A	c.(2110-2112)aaG>aaA	p.K704K	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	704							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CTATACACAAGAGGAACTCCA	0.612000													23	55					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78443559	78443559	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:78443559G>A	ENST00000278550.7	-	21	3402	c.2940C>T	c.(2938-2940)atC>atT	p.I980I		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GCTCCTGTGTGATGAAAGGTG	0.547000													12	21					0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1255908	1255908	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:1255908C>T	ENST00000540437.1	-	5	601	c.144_splice	c.e5-1	p.R49_splice	CPSF3L_ENST00000450926.2_Splice_Site_p.R43_splice|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000545578.1_Splice_Site_p.R14_splice|CPSF3L_ENST00000435064.1_Splice_Site_p.R43_splice|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	43						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AGGGAAGCGTCGCTAGGAAGG	0.607000													57	60					0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762143	101762143	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:101762143C>T	ENST00000334289.3	-	9	1629	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	345	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GTGATGAATGCCATTTAGATT	0.448000													85	113					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52184252	52184252	+	Missense_Mutation	SNP	C	C	T	rs76009743		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:52184252C>T	ENST00000354534.5	+	25	4668	c.4490C>T	c.(4489-4491)tCa>tTa	p.S1497L	SCN8A_ENST00000545061.1_Missense_Mutation_p.S1456L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1497					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AAGCTGGGCTCAAAGAAGCCA	0.458000													17	19					0	0	1	0	0
S100A7A	338324	broad.mit.edu	37	1	153390600	153390600	+	Silent	SNP	C	C	T	rs147923063		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:153390600C>T	ENST00000368729.4	+	2	99	c.42C>T	c.(40-42)atC>atT	p.I14I	S100A7A_ENST00000368728.2_Silent_p.I14I|S100A7A_ENST00000329256.2_Silent_p.I14I	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	14	EF-hand 1.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAGGCATGATCGACATGTTTC	0.428000													91	161					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106811101	106811101	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:106811101C>T	ENST00000407775.2	+	7	1139	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	ZFPM2_ENST00000378472.4_Silent_p.L28L|ZFPM2_ENST00000517361.1_Silent_p.L165L|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.L165L|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	297					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATTTCCAGCCTGTGCCCCTT	0.493000													237	104					0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85863182	85863182	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:85863182G>A	ENST00000304195.3	-	14	1651	c.1445C>T	c.(1444-1446)tCa>tTa	p.S482L	FRMD3_ENST00000328788.1_Missense_Mutation_p.S139L|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Missense_Mutation_p.S482L|FRMD3_ENST00000376434.1_Missense_Mutation_p.S288L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	482						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						ATCCTCAAATGAATCTGTGTC	0.498000													69	174					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70721905	70721905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:70721905G>A	ENST00000261776.5	-	19	2535	c.2275C>T	c.(2275-2277)Cag>Tag	p.Q759*	VAC14_ENST00000536184.2_Nonsense_Mutation_p.Q191*|VAC14_ENST00000571759.1_5'UTR	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	759					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.Q759K(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGCTTGTTCTGGACCTTCTCA	0.632000													32	35					0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	148989212	148989212	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:148989212G>A	ENST00000333677.6	+	4	575	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	138	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GTACCGGAAGGAGCCGGAGCT	0.567000													40	65					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137341217	137341217	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:137341217C>T	ENST00000424189.2	-	4	905	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	DGKI_ENST00000288490.5_Missense_Mutation_p.E226K|DGKI_ENST00000446122.1_Missense_Mutation_p.E226K|DGKI_ENST00000453654.1_5'UTR			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	226					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTTACCTTTTCTAGCTGCTCA	0.433000											OREG0018350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	192	155					0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360048	149360048	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:149360048C>T	ENST00000286298.4	+	3	1160	c.892C>T	c.(892-894)Cat>Tat	p.H298Y		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	298						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGAAACATCCATAAGACCAA	0.438000													27	41					0	0	1	0	0
GATSL3	652968	broad.mit.edu	37	22	30683173	30683173	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:30683173G>A	ENST00000407689.3	-	4	605	c.476C>T	c.(475-477)tCc>tTc	p.S159F	GATSL3_ENST00000459785.1_Intron|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000404953.3_Missense_Mutation_p.S159F	NM_001037666.2	NP_001032755.1			GATS protein-like 3											breast(1)|endometrium(1)|lung(1)	3						GCCATTGCTGGAATCATCCCT	0.637000											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	28					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6511937	6511937	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:6511937C>T	ENST00000377828.1	+	10	2274	c.2106C>T	c.(2104-2106)gtC>gtT	p.V702V	ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000461727.1_Silent_p.V136V|ESPN_ENST00000416731.1_Silent_p.V136V	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	702	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGTCACCAGTCCGGAGCCCCA	0.692000													6	19					0	0	1	0	0
ERVFRD-1	405754	broad.mit.edu	37	6	11104843	11104843	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:11104843C>T	ENST00000472091.1	-	2	1076	c.701G>A	c.(700-702)cGa>cAa	p.R234Q	ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.R234Q|SMIM13_ENST00000416247.2_Intron	NM_207582.2	NP_997465.1	P60508	EFRD1_HUMAN		234						integral to membrane|plasma membrane|virion				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						aagagaatttcgagttTGGTC	0.463000													29	19					0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96112662	96112662	+	Silent	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:96112662T>C	ENST00000371361.3	-	7	949	c.849A>G	c.(847-849)aaA>aaG	p.K283K	NOC3L_ENST00000543788.1_Silent_p.K21K|NOC3L_ENST00000371350.1_Silent_p.K283K|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	283						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CCTTAGTAGATTTTTCTGCTT	0.328000													18	24					0	0	1	0	0
C1orf63	57035	broad.mit.edu	37	1	25573390	25573390	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:25573390G>A	ENST00000243189.7	-	2	341	c.65C>T	c.(64-66)tCg>tTg	p.S22L	C1orf63_ENST00000417642.2_Missense_Mutation_p.S15L|C1orf63_ENST00000431849.2_Missense_Mutation_p.S22L	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	22										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCCGACCGCGAGGTCGAGGG	0.637000													29	50					0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81791162	81791162	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:81791162C>T	ENST00000358105.3	+	4	398	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	C4orf22_ENST00000508675.1_Missense_Mutation_p.R134C	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	117								p.R117C(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GATCTTTATTCGTGACAGAAA	0.358000													43	41					0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49696524	49696524	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:49696524C>T	ENST00000433368.2	-	8	795	c.726G>A	c.(724-726)ttG>ttA	p.L242L	CRISP3_ENST00000371159.4_Silent_p.L250L|CRISP3_ENST00000393666.1_Silent_p.L219L|CRISP3_ENST00000423399.2_Silent_p.L129L|CRISP3_ENST00000263045.4_Silent_p.L232L	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	219					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ATGTGAGCTTCAAACTTTTAC	0.363000													36	86					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169851889	169851889	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:169851889G>A	ENST00000263817.6	-	7	705	c.581C>T	c.(580-582)tCa>tTa	p.S194L		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	194	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTCCCCCACTGAATTGCAGTC	0.358000													94	50					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826719	143826719	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:143826719G>A	ENST00000408899.2	+	1	569	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CGGGCCTCATGAAATCAACCA	0.547000													84	425					0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29556620	29556620	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:29556620G>A	ENST00000383640.2	+	1	938	c.899G>A	c.(898-900)aGg>aAg	p.R300K	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	300					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AGGGCATTCAGGAGATTGCTG	0.473000													53	29					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161513140	161513140	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:161513140G>A	ENST00000392142.4	+	13	3382	c.3234G>A	c.(3232-3234)ctG>ctA	p.L1078L	MAP3K4_ENST00000366919.2_Silent_p.L1078L|MAP3K4_ENST00000348824.7_Silent_p.L1078L|MAP3K4_ENST00000366920.2_Silent_p.L1078L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1078					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATTATGTCCTGACTAAATGTG	0.398000													167	16					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536486	4536486	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:4536486G>A	ENST00000570836.1	-	11	1469	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	ALOX15_ENST00000293761.3_Missense_Mutation_p.S458F|ALOX15_ENST00000545513.1_Missense_Mutation_p.S480F|ALOX15_ENST00000574640.1_Missense_Mutation_p.S419F			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	458	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GGCATAGAAGGAAGACTTCAC	0.592000													20	2					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142720	177142720	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:177142720G>A	ENST00000296525.3	-	4	529	c.416C>T	c.(415-417)cCg>cTg	p.P139L	ASB5_ENST00000512254.1_Missense_Mutation_p.P86L|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	139					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GTTGAATAACGGAGTCACGCC	0.463000													24	34					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117250021	117250021	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:117250021C>T	ENST00000332958.2	+	18	2514	c.2498C>T	c.(2497-2499)cCc>cTc	p.P833L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	833					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCACTGCCCCCCTACAGTGAC	0.463000													76	9					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929535	121929535	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:121929535G>A	ENST00000265922.3	-	8	2574	c.2113C>T	c.(2113-2115)Cgc>Tgc	p.R705C	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		705					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGGGCCAGGCGATTAATTCGG	0.557000													61	105					0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57489826	57489826	+	Missense_Mutation	SNP	C	C	T	rs139148204		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:57489826C>T	ENST00000351747.2	-	9	1183	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	DNAH12_ENST00000389536.4_Missense_Mutation_p.D335N|DNAH12_ENST00000311202.6_Missense_Mutation_p.D335N	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	335	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCCATTTTGTCGTCATCAAAT	0.363000													18	37					0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25661866	25661866	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:25661866G>A	ENST00000377961.2	+	3	408	c.240G>A	c.(238-240)atG>atA	p.M80I	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	80	EF-hand 2.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCATTCGGATGAAAGAGGTAA	0.388000													31	75					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119509608	119509608	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:119509608C>T	ENST00000368468.3	-	11	2122	c.1681G>A	c.(1681-1683)Gat>Aat	p.D561N		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	561					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TACTTTGGATCATGAGTCAGT	0.373000													63	6					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714424	183714424	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:183714424G>A	ENST00000511685.1	+	26	6722	c.6599G>A	c.(6598-6600)aGg>aAg	p.R2200K	TENM3_ENST00000406950.2_Missense_Mutation_p.R2200K					teneurin transmembrane protein 3																		CTACGTCAAAGGGGCACGGAA	0.502000													24	47					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693354	187693354	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:187693354T>A	ENST00000295131.2	-	9	1298	c.1259A>T	c.(1258-1260)aAa>aTa	p.K420I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	420					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATCTGGTTCTTTCTGCTTTGA	0.328000													17	52					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459756	107459756	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:107459756C>T	ENST00000409382.3	-	2	1288	c.678G>A	c.(676-678)aaG>aaA	p.K226K	ST6GAL2_ENST00000361686.4_Silent_p.K226K|ST6GAL2_ENST00000409087.3_Silent_p.K226K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	226					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCAGGTAATCCTTCATCGCCT	0.652000													11	3					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51679644	51679644	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:51679644C>T	ENST00000409535.1	+	17	2819	c.2694C>T	c.(2692-2694)ttC>ttT	p.F898F	RAD54L2_ENST00000296477.3_Silent_p.F592F	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	898						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGCTGAACTTCACACGGAAAG	0.443000													5	12					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111474558	111474558	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:111474558G>A	ENST00000265162.5	+	18	2931	c.2589G>A	c.(2587-2589)ggG>ggA	p.G863G		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	863					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACAGCTATGGGAAGAACATGG	0.393000													88	117					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589615	140589615	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140589615G>A	ENST00000239450.2	+	1	1325	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	PCDHB12_ENST00000541609.1_Missense_Mutation_p.G42E	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		379	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGGACAACGGAAAGATGGTT	0.448000													27	31					0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457137	20457137	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:20457137C>T	ENST00000426804.1	-	1	4649	c.4165G>A	c.(4165-4167)Gat>Aat	p.D1389N		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CCCCACAGATCCAAGCACAGT	0.597000													21	97					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45402714	45402714	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:45402714G>A	ENST00000389039.6	-	9	1337	c.952C>T	c.(952-954)Cct>Tct	p.P318S	DUOX2_ENST00000603300.1_Missense_Mutation_p.P318S			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	318	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCTAGGAAAGGACGGTATCCT	0.577000													19	5					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24884677	24884677	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:24884677G>A	ENST00000396432.2	-	19	4167	c.3681C>T	c.(3679-3681)ttC>ttT	p.F1227F	ARHGAP21_ENST00000320481.6_Silent_p.F1014F	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1226	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGAGTTTTCTGAAGAAGGATT	0.358000													29	25					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141081561	141081561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:141081561G>A	ENST00000389484.3	-	81	13386	c.12415C>T	c.(12415-12417)Cga>Tga	p.R4139*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4139					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R4139*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTGAACTCGAAATACACCA	0.308000										TSP Lung(27;0.18)			79	54					0	0	1	0	0
UBE2E2	7325	broad.mit.edu	37	3	23574053	23574053	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:23574053C>T	ENST00000396703.1	+	5	549	c.369C>T	c.(367-369)ttC>ttT	p.F123F	UBE2E2_ENST00000425792.1_Silent_p.F123F	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	123					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						AGGTTACCTTCCGAACAAGAA	0.313000													16	29					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28146983	28146983	+	Nonsense_Mutation	SNP	G	G	A	rs147334255		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:28146983G>A	ENST00000302326.4	-	2	4837	c.3883C>T	c.(3883-3885)Cga>Tga	p.R1295*	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1295							binding	p.R1295*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ACGGAGGCTCGAGCCTTGGCG	0.592000			T	ETV6	"""AML, meningioma"""								57	60					0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108917299	108917299	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:108917299G>A	ENST00000251481.6	+	4	736	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	SULT1C2_ENST00000326853.5_Intron|SULT1C2_ENST00000409880.1_Intron|SULT1C2_ENST00000437390.2_Missense_Mutation_p.E109K	NM_001056.3	NP_001047.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	95					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	p.E95K(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TAAAGGTGTGGAAAAAGCCAA	0.488000													36	75					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136898	40136898	+	Nonsense_Mutation	SNP	C	C	T	rs151083424		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:40136898C>T	ENST00000278198.2	-	2	2908	c.945G>A	c.(943-945)tgG>tgA	p.W315*	LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.W315*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.W315*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.W315*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	315	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding	p.W315*(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTCTTTTATCCACCAGCTGA	0.493000													35	29					0	0	1	0	0
SSBP2	23635	broad.mit.edu	37	5	80756922	80756922	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:80756922C>T	ENST00000320672.4	-	10	849	c.638_splice	c.e10-1	p.M213_splice	SSBP2_ENST00000515395.1_Splice_Site_p.M191_splice|SSBP2_ENST00000514493.1_Splice_Site_p.M183_splice|SSBP2_ENST00000509053.1_Splice_Site_p.M183_splice|SSBP2_ENST00000505980.1_Splice_Site_p.M193_splice	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	213	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CACCTGGACCCCTACAAAACA	0.279000													6	12					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	738454	738454	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:738454A>G	ENST00000382303.1	+	12	4155	c.3503A>G	c.(3502-3504)tAc>tGc	p.Y1168C	KANK1_ENST00000382293.3_Missense_Mutation_p.Y1010C|KANK1_ENST00000382297.2_Missense_Mutation_p.Y1168C|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1168					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCCCTCCATTACAGCGTGTCC	0.527000													76	6					0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35213079	35213079	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:35213079G>A	ENST00000274938.7	+	19	2476	c.2476G>A	c.(2476-2478)Gct>Act	p.A826T	SCUBE3_ENST00000394681.1_Missense_Mutation_p.A842T	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	826	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CAACTACCCAGCTGGTGTGGA	0.552000													74	147					0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43892244	43892244	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:43892244G>A	ENST00000450892.2	-	28	5230	c.5153C>T	c.(5152-5154)cCt>cTt	p.P1718L	STRC_ENST00000541030.1_Missense_Mutation_p.P945L	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1718					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CATTTGCTCAGGAGTGACAGC	0.552000													38	4					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317950	30317950	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:30317950G>A	ENST00000375377.1	-	3	1228	c.1127C>T	c.(1126-1128)cCg>cTg	p.P376L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	376	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTTCTCGGTCGGAGACTGCTG	0.627000													68	50					0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91358040	91358040	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:91358040G>A	ENST00000261172.3	-	7	954	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	288					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.R288C(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AGTGCCTTACGAATATAAGTC	0.363000													32	32					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:100349878C>T	ENST00000542585.1	+	0	2298				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P717L(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACCCACCATCCCC	0.507000													5	101					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128082	117128082	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:117128082C>T	ENST00000310357.3	-	3	807	c.786G>A	c.(784-786)ctG>ctA	p.L262L	GPRC6A_ENST00000368549.3_Silent_p.L262L|GPRC6A_ENST00000530250.1_Silent_p.L262L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	262					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGATTTTCTTCAGTGTCCGAT	0.358000													23	3					0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132632120	132632120	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:132632120G>T	ENST00000315480.4	+	14	1720	c.1562G>T	c.(1561-1563)cGa>cTa	p.R521L	USP20_ENST00000372429.3_Missense_Mutation_p.R521L|USP20_ENST00000358355.1_Missense_Mutation_p.R521L			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	521					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GAGTACATCCGACGGTGCGCC	0.617000													49	49					3.74213e-36	3.7941e-36	1	1	0
CLSTN2	64084	broad.mit.edu	37	3	140265380	140265380	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:140265380T>A	ENST00000458420.3	+	10	1721	c.1531T>A	c.(1531-1533)Ttt>Att	p.F511I		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	511					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						CAAACCACAGTTTGCTCAGTT	0.527000										HNSCC(16;0.037)			34	37					0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890371	229890371	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:229890371C>T	ENST00000392054.3	-	4	1063	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	PID1_ENST00000409462.1_Missense_Mutation_p.E162K|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.E211K|PID1_ENST00000354069.6_Missense_Mutation_p.E244K	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	244	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GATTCCAATTCCTGGGAAACC	0.512000													36	92					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168892	142168892	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:142168892C>T	ENST00000454561.2	-	0	153																											GCTTGGTCCTCCTGGGGAAGA	0.587000													18	18					0	0	1	0	0
BECN1	8678	broad.mit.edu	37	17	40970638	40970638	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:40970638C>T	ENST00000361523.4	-	6	544	c.412G>A	c.(412-414)Gag>Aag	p.E138K	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Missense_Mutation_p.E138K	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	138					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GTGCATTCCTCACAGAGTGGG	0.532000													34	48					0	0	1	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6974646	6974646	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:6974646C>T	ENST00000600751.1	-	0	736					NR_024075.1																						TCAGAATATCCCCAAGAGATT	0.398000													8	24					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751701	73751701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:73751701C>T	ENST00000342056.2	+	3	930	c.532C>T	c.(532-534)Cga>Tga	p.R178*	KCNQ5_ENST00000370398.1_Nonsense_Mutation_p.R178*|KCNQ5_ENST00000355194.4_Nonsense_Mutation_p.R178*|KCNQ5_ENST00000355635.3_Nonsense_Mutation_p.R178*|KCNQ5_ENST00000414165.2_Nonsense_Mutation_p.R178*|KCNQ5_ENST00000403813.2_Nonsense_Mutation_p.R178*|KCNQ5_ENST00000370392.1_Nonsense_Mutation_p.R178*|KCNQ5_ENST00000402622.2_Nonsense_Mutation_p.R178*	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	178					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GTTCATCATTCGAATCTGGTC	0.423000													134	6					0	0	1	0	0
PAK1	5058	broad.mit.edu	37	11	77070063	77070063	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:77070063C>T	ENST00000356341.3	-	6	1009		c.e6-1		PAK1_ENST00000278568.4_Splice_Site|PAK1_ENST00000530617.1_Splice_Site|PAK1_ENST00000528203.1_Splice_Site	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1						apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					CCTTCACATTCTGTGCAAAGA	0.493000													4	3					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400038	89400038	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:89400038G>A	ENST00000439576.2	+	12	4596	c.4222G>A	c.(4222-4224)Gag>Aag	p.E1408K	ACAN_ENST00000559004.1_Missense_Mutation_p.E1408K|ACAN_ENST00000561243.1_Missense_Mutation_p.E1408K|ACAN_ENST00000352105.7_Missense_Mutation_p.E1408K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1408					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCCTGGAGTAGAGGAGATCAG	0.527000													130	55					0	0	1	0	0
NCLN	56926	broad.mit.edu	37	19	3205964	3205964	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:3205964C>T	ENST00000246117.4	+	10	1667	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	NCLN_ENST00000590671.1_Silent_p.T338T	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	412					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACCCTGACCCGTAACACGA	0.532000													75	141					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157065572	157065572	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:157065572G>A	ENST00000265007.6	-	4	1887	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S	SOX30_ENST00000311371.5_Intron|SOX30_ENST00000519442.1_Missense_Mutation_p.P211S	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	516					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTTGGGAAGGCCCAGTAAAG	0.542000													26	41					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399212	22399212	+	Missense_Mutation	SNP	G	G	A	rs138159912		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:22399212G>A	ENST00000263160.3	+	12	2112	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	559					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TAGTGGTTGGGAAAAGAAAGA	0.368000													18	18					0	0	1	0	0
EDN3	1908	broad.mit.edu	37	20	57876655	57876655	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:57876655G>A	ENST00000311585.7	+	2	613	c.243G>A	c.(241-243)caG>caA	p.Q81Q	EDN3_ENST00000395654.3_Silent_p.Q81Q|EDN3_ENST00000371025.3_Silent_p.Q81Q|EDN3_ENST00000371028.2_Silent_p.Q81Q|EDN3_ENST00000337938.2_Silent_p.Q81Q	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	81					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GCCCTGGGCAGGAGCAGGCGG	0.667000													36	42					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458532	45458532	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:45458532G>A	ENST00000548424.1	+	0	448																											GGAGCCAATGGAACGAGTTTC	0.493000													12	17					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505694	155505694	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:155505694A>G	ENST00000302053.3	-	6	2261	c.2183T>C	c.(2182-2184)tTa>tCa	p.L728S		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	728	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCAGTCCTCTAATTCAACCCT	0.517000													101	98					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38320295	38320295	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:38320295C>T	ENST00000379705.3	-	3	1533	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	TRPC4_ENST00000426868.2_Missense_Mutation_p.E226K|TRPC4_ENST00000355779.2_Missense_Mutation_p.E226K|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.E226K|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000447043.1_Missense_Mutation_p.E226K|TRPC4_ENST00000379681.3_Missense_Mutation_p.E226K|TRPC4_ENST00000379673.2_Missense_Mutation_p.E226K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	226					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCCTGAAGTTCCCAACTTAAC	0.478000													35	42					0	0	1	0	0
RAP1A	5906	broad.mit.edu	37	1	112238021	112238021	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:112238021C>T	ENST00000369709.3	+	3	295	c.116C>T	c.(115-117)tCc>tTc	p.S39F	RAP1A_ENST00000436150.2_Missense_Mutation_p.S39F|RAP1A_ENST00000356415.1_Missense_Mutation_p.S39F|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000545460.1_Missense_Mutation_p.S39F	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	39					activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		ATAGAAGATTCCTACAGAAAG	0.294000													15	22					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627361	38627361	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:38627361C>T	ENST00000413689.1	-	16	2801	c.2608G>A	c.(2608-2610)Gac>Aac	p.D870N	SCN5A_ENST00000333535.4_Missense_Mutation_p.D870N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D870N|SCN5A_ENST00000451551.2_Missense_Mutation_p.D870N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D870N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D870N|SCN5A_ENST00000443581.1_Missense_Mutation_p.D870N|SCN5A_ENST00000455624.2_Missense_Mutation_p.D870N|SCN5A_ENST00000449557.2_Missense_Mutation_p.D870N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D870N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	870					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAGTCGCTGTCCCTCAGCTCC	0.562000													95	105					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77317862	77317862	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:77317862C>T	ENST00000282849.5	-	23	4075	c.3657G>A	c.(3655-3657)agG>agA	p.R1219R	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1219	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATCAGATCTTCCTTGTGCATG	0.512000													43	66					0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76129240	76129240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:76129240C>T	ENST00000296677.4	+	2	1014	c.808C>T	c.(808-810)Cga>Tga	p.R270*		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	270			R -> Q (in dbSNP:rs2243062).		blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CAGAATGCTGCGATCTTCTGC	0.493000													50	55					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46275833	46275833	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:46275833C>T	ENST00000372004.3	+	18	3485	c.3269C>T	c.(3268-3270)cCc>cTc	p.P1090L	NCOA3_ENST00000371997.3_Missense_Mutation_p.P1085L|NCOA3_ENST00000371998.3_Missense_Mutation_p.P1090L|NCOA3_ENST00000341724.6_Missense_Mutation_p.P1020L	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1090	Interaction with CREBBP.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCATTAGAGCCCAAACAGGAT	0.428000													43	66					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25674845	25674845	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:25674845C>T	ENST00000382051.3	+	10	1235	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V	SLC34A2_ENST00000503434.1_Silent_p.V394V|SLC34A2_ENST00000504570.1_Silent_p.V394V	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	395					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AGGGGCAGGTCGCCACTGTCA	0.537000			T	ROS1	NSCLC								35	39					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215914479	215914479	+	Silent	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:215914479A>G	ENST00000272895.7	-	6	783	c.564T>C	c.(562-564)taT>taC	p.Y188Y		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	188					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTATCCTGAATAGCTGTCAC	0.333000													24	23					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101555763	101555763	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:101555763C>T	ENST00000536262.2	-	13	2177	c.1619G>A	c.(1618-1620)aGt>aAt	p.S540N		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	540					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTTGATAAACTGACAAGTAT	0.308000													99	138					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98941583	98941583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:98941583C>T	ENST00000556029.1	+	9	1668	c.1312C>T	c.(1312-1314)Caa>Taa	p.Q438*	TMPO_ENST00000393053.2_Nonsense_Mutation_p.Q329*|TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000343315.5_Nonsense_Mutation_p.Q398*	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	438						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGAAACCAACCAAGTAAATCC	0.373000													27	55					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33879969	33879969	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:33879969G>A	ENST00000374408.3	-	1	235	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	47										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCGGCCGCCAGCCGAGCCGCC	0.726000													7	16					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207870952	207870952	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:207870952G>A	ENST00000508064.2	+	6	1027	c.967G>A	c.(967-969)Gac>Aac	p.D323N	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	323	Sushi 5.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCCCGGCTACGACCTCAGAGG	0.557000													114	272					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26243817	26243817	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:26243817G>A	ENST00000265944.5	+	4	349	c.183G>A	c.(181-183)gaG>gaA	p.E61E	MYO3A_ENST00000376301.1_Silent_p.E61E|MYO3A_ENST00000543632.1_Silent_p.E61E|MYO3A_ENST00000376302.1_Silent_p.E61E	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	61	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTGACGAAGAGATTGAAGCAG	0.323000													38	47					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101748833	101748833	+	Missense_Mutation	SNP	C	C	T	rs141543083		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:101748833C>T	ENST00000506729.1	-	9	1658	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G434E|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G496E|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G243E|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G243E			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	496	Kazal-like.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGTGAGGTTTCCCAACTTCCC	0.318000													31	37					0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113242921	113242921	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:113242921A>T	ENST00000369644.1	+	21	3740	c.2711A>T	c.(2710-2712)aAt>aTt	p.N904I	MOV10_ENST00000413052.2_Missense_Mutation_p.N960I|MOV10_ENST00000369645.1_Missense_Mutation_p.N960I|MOV10_ENST00000357443.2_Missense_Mutation_p.N960I|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	960					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CAGGGACAGAATTTACTGCAA	0.552000													41	47					0	0	1	0	0
DIO1	1733	broad.mit.edu	37	1	54360202	54360202	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:54360202A>G	ENST00000361921.3	+	1	343	c.319A>G	c.(319-321)Att>Gtt	p.I107V	DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Missense_Mutation_p.I107V|DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000525202.1_Intron|DIO1_ENST00000388876.3_Missense_Mutation_p.I107V|DIO1_ENST00000322679.6_Missense_Mutation_p.I107V	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	107					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GAGGTGCAACATTTGGGAGTT	0.567000													13	11					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31876891	31876891	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:31876891G>A	ENST00000396184.3	-	12	1310	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	PDE1C_ENST00000321453.7_Missense_Mutation_p.S369F|PDE1C_ENST00000396193.1_Missense_Mutation_p.S429F|PDE1C_ENST00000396191.1_Missense_Mutation_p.S369F|PDE1C_ENST00000396182.2_Missense_Mutation_p.S369F	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	369	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CAGCATAAGGGATAAGGCTTT	0.418000													37	21					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139703118	139703118	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:139703118C>T	ENST00000303045.6	-	36	3201		c.e36-1		COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CGGGAGCACCCTGTTCAGAGA	0.547000										HNSCC(7;0.00092)			23	31					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12847456	12847456	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:12847456C>T	ENST00000379672.5	+	10	1104	c.804C>T	c.(802-804)atC>atT	p.I268I	ARHGAP44_ENST00000262444.9_Silent_p.I268I|ARHGAP44_ENST00000340825.3_Silent_p.I268I	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	268	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCCGGGAGATCGCCTTCCCCA	0.632000													40	1					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61022318	61022318	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:61022318C>T	ENST00000373867.3	-	11	1328	c.863G>A	c.(862-864)aGa>aAa	p.R288K	FAM13C_ENST00000468840.2_Missense_Mutation_p.R288K|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000422313.2_Missense_Mutation_p.R371K|FAM13C_ENST00000442566.3_Missense_Mutation_p.R392K|FAM13C_ENST00000277705.6_Missense_Mutation_p.R392K|FAM13C_ENST00000435852.2_Missense_Mutation_p.R371K|FAM13C_ENST00000373868.2_Missense_Mutation_p.R371K	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	371										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCATTTTCTCTGGGGACTGT	0.522000													25	30					0	0	1	0	0
CCAR2	57805	broad.mit.edu	37	8	22475237	22475237	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:22475237C>T	ENST00000308511.4	+	16	2268	c.2019C>T	c.(2017-2019)gtC>gtT	p.V673V	KIAA1967_ENST00000389279.3_Silent_p.V673V|KIAA1967_ENST00000520861.1_Silent_p.V348V			Q8N163	K1967_HUMAN		673					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ATTCGGAGGTCCGGTCCGTTG	0.532000													89	111					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833510	168833510	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:168833510G>A	ENST00000464456.1	-	7	2786	c.1586C>T	c.(1585-1587)tCg>tTg	p.S529L	MECOM_ENST00000392736.3_Missense_Mutation_p.S529L|MECOM_ENST00000468789.1_Missense_Mutation_p.S529L|MECOM_ENST00000264674.3_Missense_Mutation_p.S594L|MECOM_ENST00000433243.2_Missense_Mutation_p.S530L|MECOM_ENST00000460814.1_Missense_Mutation_p.S529L|MECOM_ENST00000494292.1_Missense_Mutation_p.S717L|MECOM_ENST00000472280.1_Missense_Mutation_p.S530L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAAAGGTAACGATCTCAAGTC	0.438000													40	33					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835375	38835375	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:38835375C>T	ENST00000449082.2	-	1	126	c.127G>A	c.(127-129)Gag>Aag	p.E43K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	43					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCCTTCTGCTCCCTATGCTTC	0.527000													30	48					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114636418	114636418	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:114636418G>A	ENST00000393296.1	-	7	1600	c.1523C>T	c.(1522-1524)cCt>cTt	p.P508L	SYT6_ENST00000369547.1_Missense_Mutation_p.P423L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	508	Necessary for cell membrane association (isoform 2) (By similarity).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACAACCGAGGGTTTCCCTG	0.458000													31	81					0	0	1	0	0
TMEM50A	23585	broad.mit.edu	37	1	25669526	25669526	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:25669526C>T	ENST00000374358.4	+	3	721	c.168C>T	c.(166-168)taC>taT	p.Y56Y	TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	56						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		ACCACTCATACCATGCCTGTG	0.363000													65	55					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6864552	6864552	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:6864552C>T	ENST00000307659.5	+	7	2898	c.2443C>T	c.(2443-2445)Cca>Tca	p.P815S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P815S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	815							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TAATGAAAGTCCACATGGAGA	0.353000													43	48					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6505846	6505846	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:6505846C>T	ENST00000377828.1	+	7	1483	c.1315C>T	c.(1315-1317)Ccg>Tcg	p.P439S	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	439	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		cagcttccccccgccaccccc	0.667000													11	11					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130505695	130505695	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:130505695G>A	ENST00000532763.1	-	5	580	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000368134.2_Missense_Mutation_p.P153S|SAMD3_ENST00000457563.2_Missense_Mutation_p.P177S|SAMD3_ENST00000324172.6_Missense_Mutation_p.P153S|SAMD3_ENST00000437477.2_Missense_Mutation_p.P153S|SAMD3_ENST00000439090.2_Missense_Mutation_p.P153S			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	153										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACATCATAGGGAAACTCTGGT	0.403000													23	1					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164751194	164751194	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:164751194A>G	ENST00000264382.3	-	23	2616	c.2554T>C	c.(2554-2556)Tca>Cca	p.S852P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	852	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTAGAAACTGAAAATGTATAT	0.269000										HNSCC(35;0.089)			4	18					0	0	1	0	0
MIR496	574454	broad.mit.edu	37	14	101526943	101526943	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:101526943G>A	ENST00000385226.1	+	0	34					NR_030176.1																						GGTTGTCCATGGTGTGTTCAT	0.532000													6	11					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38409183	38409183	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:38409183C>T	ENST00000322350.5	+	10	1672	c.1326C>T	c.(1324-1326)atC>atT	p.I442I	EGFLAM_ENST00000336740.6_Silent_p.I208I|EGFLAM_ENST00000354891.3_Silent_p.I442I|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	442	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.I442I(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCCTGGCTATCATCCGACGCT	0.448000													6	6					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10941040	10941040	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:10941040C>T	ENST00000314646.5	+	20	2693	c.2529C>T	c.(2527-2529)ccC>ccT	p.P843P	DNM2_ENST00000359692.6_Silent_p.P839P|DNM2_ENST00000355667.6_Silent_p.P843P|DNM2_ENST00000585892.1_Silent_p.P843P|DNM2_ENST00000408974.4_Silent_p.P839P|DNM2_ENST00000389253.4_Silent_p.P843P			P50570	DYN2_HUMAN	dynamin 2	843	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CAGGGATTCCCCCAGGAGTGC	0.652000			"""F, N, Splice, Mis, O"""		ETP ALL								38	56					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687357	27687357	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:27687357C>T	ENST00000438700.3	-	4	2287	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	724					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CTTAAAAAATCAGGAATATTG	0.299000													7	19					0	0	1	0	0
CRIP3	401262	broad.mit.edu	37	6	43273599	43273599	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:43273599C>G	ENST00000372569.3	-	8	572	c.568G>C	c.(568-570)Gat>Cat	p.D190H	CRIP3_ENST00000274990.4_3'UTR	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	71						cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CAGCCCACATCGCCAATGTTC	0.542000													24	50					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176308833	176308833	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:176308833G>A	ENST00000292432.5	-	17	2344	c.2253C>T	c.(2251-2253)atC>atT	p.I751I		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	751	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACATGCCGCTGATCATCTTTT	0.592000													23	34					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127570175	127570175	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:127570175G>A	ENST00000373580.3	+	7	1284	c.1284G>A	c.(1282-1284)agG>agA	p.R428R	OLFML2A_ENST00000288815.5_Silent_p.R214R	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	428	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GAGACGACAGGATCTATGTCA	0.617000													62	38					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166201067	166201067	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:166201067C>T	ENST00000357398.3	+	16	2855	c.2565C>T	c.(2563-2565)ctC>ctT	p.L855L	SCN2A_ENST00000375437.2_Silent_p.L855L|SCN2A_ENST00000375427.2_Silent_p.L855L|SCN2A_ENST00000283256.6_Silent_p.L855L			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	855					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATTTCCAGCTCCGAGTTTTCA	0.308000													14	16					0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23476513	23476513	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:23476513G>A	ENST00000246012.1	+	4	748	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	131						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CTGGAATGGTGAATTCACTGT	0.368000													51	55					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7725526	7725526	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:7725526G>A	ENST00000507866.2	+	19	2636	c.2527G>A	c.(2527-2529)Gag>Aag	p.E843K	SORCS2_ENST00000329016.9_Missense_Mutation_p.E671K	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	843	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GCACCGCTACGAGAGCCCCGG	0.592000													35	74					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085540	92085540	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:92085540G>A	ENST00000298047.6	+	1	279	c.262G>A	c.(262-264)Gag>Aag	p.E88K	FAT3_ENST00000541502.1_Missense_Mutation_p.E88K|FAT3_ENST00000409404.2_Missense_Mutation_p.E88K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	88	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCCGGAGACGAGGAAGGCTT	0.413000										TCGA Ovarian(4;0.039)			35	52					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42141989	42141989	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:42141989C>T	ENST00000401548.3	+	14	1679	c.1639C>T	c.(1639-1641)Ctt>Ttt	p.L547F	MEI1_ENST00000540833.1_Missense_Mutation_p.L287F|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	547							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCAGAATTTCTTCTCAGTGC	0.537000													8	2					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860407	16860407	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:16860407C>T	ENST00000524140.2	+	6	1372	c.954C>T	c.(952-954)ctC>ctT	p.L318L	NWD1_ENST00000379808.3_Silent_p.L318L|NWD1_ENST00000339803.6_Silent_p.L183L|NWD1_ENST00000552788.1_Silent_p.L318L|NWD1_ENST00000549814.1_Silent_p.L318L|NWD1_ENST00000523826.1_Silent_p.L112L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	318							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCAGGAACTCCTGGCCCGGC	0.617000													29	42					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793365	17793365	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:17793365G>A	ENST00000379472.3	+	2	754	c.724G>A	c.(724-726)Gag>Aag	p.E242K	KCNC1_ENST00000265969.6_Missense_Mutation_p.E242K	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	242						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GGCCGAGACGGAGGCCTTCCT	0.567000													61	65					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51203899	51203899	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:51203899G>A	ENST00000395542.2	-	7	1172	c.988C>T	c.(988-990)Cct>Tct	p.P330S	COBL_ENST00000395540.2_Missense_Mutation_p.P305S|COBL_ENST00000441453.1_Missense_Mutation_p.P305S|COBL_ENST00000265136.7_Missense_Mutation_p.P305S			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	301	Pro-rich.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GAACCTGGAGGAGGAGGGGCT	0.562000													23	44					0	0	1	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22434020	22434020	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:22434020G>A	ENST00000390442.3	+	0	129																											CCAACAGAAGGAGGTGGAGCA	0.463000													23	27					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390634	197390634	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:197390634C>T	ENST00000367400.3	+	6	1811	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	CRB1_ENST00000544212.1_Missense_Mutation_p.S40F|CRB1_ENST00000367399.2_Missense_Mutation_p.S447F|CRB1_ENST00000538660.1_Missense_Mutation_p.S559F|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.S258F|CRB1_ENST00000535699.1_Missense_Mutation_p.S490F	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	559	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGTTCATTTCCCACAACACC	0.458000													150	94					0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88478074	88478074	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:88478074G>A	ENST00000267549.3	+	2	1441	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	295					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTTTGTAACCGAAACAGGAAG	0.353000													23	29					0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444088	82444088	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:82444088C>T	ENST00000268206.7	-	18	2875	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	EFTUD1_ENST00000359445.3_Missense_Mutation_p.E852K	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	903					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCTTGTTCCTCAAATTTACTT	0.473000													28	44					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20563565	20563565	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:20563565C>T	ENST00000329697.6	-	6	963	c.795G>A	c.(793-795)tgG>tgA	p.W265*	ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.W265*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.W265*|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.W186*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	265					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGTTCAGTATCCAACCTGTGT	0.433000													74	105					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606790	55606790	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:55606790C>T	ENST00000378396.1	+	1	563	c.563C>T	c.(562-564)tCa>tTa	p.S188L		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCCCTGATATCACTCTCTTAC	0.408000													43	28					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111758423	111758423	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:111758423C>T	ENST00000261726.6	+	17	2764	c.2610C>T	c.(2608-2610)gcC>gcT	p.A870A		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	870						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACTACCCGGCCTACGTGCCGC	0.731000													18	5					0	0	1	0	0
FAM150A	389658	broad.mit.edu	37	8	53454956	53454956	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:53454956G>A	ENST00000358543.4	-	2	490	c.240C>T	c.(238-240)ttC>ttT	p.F80F	FAM150A_ENST00000523939.1_Silent_p.F80F	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	80						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				ACTTACCTGTGAAATGCTTTA	0.303000													4	10					0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886205	55886205	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:55886205T>G	ENST00000379662.1	+	1	59	c.59T>G	c.(58-60)cTg>cGg	p.L20R	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000548615.1_Missense_Mutation_p.L15R			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						CTTCTGGGACTGACAGAAGAT	0.398000													59	59					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196398861	196398861	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:196398861C>T	ENST00000367433.5	-	9	766	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	KCNT2_ENST00000294725.8_Missense_Mutation_p.R222Q|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.R222Q			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	222						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTTTCCTATTCGTTCCAGATG	0.378000													21	18					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478346	14478346	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:14478346G>A	ENST00000581457.1	-	0	1562					NR_024076.1																						ATGTTGGAAGGAGACATGGAT	0.498000													10	12					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287431	46287431	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:46287431C>T	ENST00000378966.3	+	2	579	c.163C>T	c.(163-165)Cca>Tca	p.P55S	SPERT_ENST00000310521.1_Missense_Mutation_p.P91S			Q8NA61	SPERT_HUMAN	spermatid associated	91						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GCACTCCTATCCACTGAACCG	0.677000													49	55					0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140057493	140057493	+	Splice_Site	SNP	C	C	T	rs145174616	by1000genomes	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140057493C>T	ENST00000504366.1	-	5	2242	c.423_splice	c.e5+1	p.K141_splice	HARS_ENST00000307633.3_Splice_Site_p.K150_splice|HARS_ENST00000504156.1_Splice_Site_p.K210_splice|HARS_ENST00000431330.2_Splice_Site_p.K96_splice|HARS_ENST00000457527.2_Splice_Site_p.K190_splice|HARS_ENST00000438307.2_Splice_Site_p.K170_splice|HARS_ENST00000415192.2_Splice_Site_p.K136_splice|HARS_ENST00000448240.1_Splice_Site_p.K48_splice			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	210					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAGCTCTGACCTTGACCAGGA	0.517000													15	37					0	0	1	0	0
HORMAD2	150280	broad.mit.edu	37	22	30518166	30518166	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:30518166G>A	ENST00000336726.6	+	10	1137	c.782G>A	c.(781-783)gGt>gAt	p.G261D	HORMAD2_ENST00000403975.1_Missense_Mutation_p.G261D	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	261					meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			GCCCATCAGGGTCTAGACTGT	0.388000													17	14					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706251	41706251	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:41706251G>A	ENST00000379485.1	-	1	631	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R67C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	133	BTB.						protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGAGACACACGACCCGTGTAG	0.607000													39	46					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76067970	76067970	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:76067970G>A	ENST00000395215.3	+	0	77																											CCCACCCCACGATGTTAGAAG	0.552000													36	40					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79668244	79668244	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:79668244G>A	ENST00000275034.4	-	32	3897	c.3730C>T	c.(3730-3732)Cct>Tct	p.P1244S	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1244	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTCACAATAGGGCTTCCAGGC	0.299000													22	4					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279880	47279880	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:47279880G>A	ENST00000271153.4	+	7	808		c.e7-1		CYP4B1_ENST00000452782.2_Splice_Site|CYP4B1_ENST00000371919.4_Splice_Site|CYP4B1_ENST00000371923.4_Splice_Site			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTTTGGTTCAGACCAGGTCAT	0.577000													24	19					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21997463	21997463	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:21997463C>T	ENST00000261200.4	-	26	3268	c.3269G>A	c.(3268-3270)gGa>gAa	p.G1090E	ABCC9_ENST00000261201.4_Missense_Mutation_p.G1090E|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.G1054E	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1090	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGAATCAGTCCCAGGGGTGT	0.368000													60	73					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10574635	10574635	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:10574635C>T	ENST00000380702.2	+	15	1844	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	PDE4A_ENST00000592685.1_Missense_Mutation_p.S615F|PDE4A_ENST00000344979.3_Missense_Mutation_p.S398F|PDE4A_ENST00000293683.5_Missense_Mutation_p.S611F|PDE4A_ENST00000440014.2_Missense_Mutation_p.S576F|PDE4A_ENST00000352831.6_Missense_Mutation_p.S637F			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	637	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CACACTGCCTCCGTGGAGAAG	0.612000													24	34					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634218	70634218	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:70634218C>T	ENST00000381269.2	-	2	1675	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	SLC8A3_ENST00000356921.2_Missense_Mutation_p.E308K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E308K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E308K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E308K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	308					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCATCCACTTCCTTCCCTTCC	0.493000													34	40					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7637779	7637779	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:7637779C>T	ENST00000359156.4	-	11	2894	c.2692G>A	c.(2692-2694)Gga>Aga	p.G898R	CD163_ENST00000396620.3_Missense_Mutation_p.G931R|CD163_ENST00000432237.2_Missense_Mutation_p.G898R|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.G886R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	898	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GTGTCAGGTCCTTTTGGACAC	0.542000													52	51					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46230641	46230641	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:46230641C>T	ENST00000334344.6	+	8	1062	c.890C>T	c.(889-891)tCc>tTc	p.S297F	ARID2_ENST00000422737.1_Missense_Mutation_p.S148F|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	297					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAAATCTTTCCTTTGAGGAG	0.398000			"""N, S, F"""		hepatocellular carcinoma								42	67					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540500	55540500	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:55540500C>T	ENST00000220676.1	+	4	4206	c.4058C>T	c.(4057-4059)aCt>aTt	p.T1353I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1353					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AACACATATACTGATAACTTG	0.348000													22	34					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118771896	118771896	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:118771896G>A	ENST00000334801.3	-	6	3520	c.2556C>T	c.(2554-2556)ggC>ggT	p.G852G	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	852					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGGGTCCCTGGCCTCCAGAGA	0.607000													54	3					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56763037	56763037	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:56763037C>T	ENST00000381295.2	+	16	2456	c.2108C>T	c.(2107-2109)aCc>aTc	p.T703I	EXOC1_ENST00000349598.6_Missense_Mutation_p.T688I|EXOC1_ENST00000346134.7_Missense_Mutation_p.T703I	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	703					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAAGCATACACCAAACTTATC	0.348000													29	42					0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97605159	97605159	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:97605159G>A	ENST00000371203.5	+	5	792	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000453258.2_Missense_Mutation_p.E214K|ENTPD1_ENST00000371207.3_Missense_Mutation_p.E219K|ENTPD1_ENST00000543964.1_Missense_Mutation_p.E99K|ENTPD1_ENST00000539125.1_Missense_Mutation_p.E69K|ENTPD1_ENST00000371205.4_Missense_Mutation_p.E207K|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	207					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CAATAATCAGGAAACCTTTGG	0.453000													54	67					0	0	1	0	0
TRAJ24	28731	broad.mit.edu	37	14	22989009	22989009	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:22989009G>A	ENST00000390513.1	+	0	63																											GGTCACCCCAGGTAAGCCCCA	0.512000													11	5					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54451968	54451968	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:54451968C>T	ENST00000566473.2	+	7	812	c.812C>T	c.(811-813)cCt>cTt	p.P271L	ANKFN1_ENST00000318698.2_Missense_Mutation_p.P271L			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	271	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CCAGGAGCCCCTGAGATGCCA	0.463000													149	86					0	0	1	0	0
H3F3B	3021	broad.mit.edu	37	17	73775224	73775224	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:73775224G>A	ENST00000254810.4	-	2	164	c.32C>T	c.(31-33)tCc>tTc	p.S11F	H3F3B_ENST00000591890.1_Missense_Mutation_p.S11F|H3F3B_ENST00000592643.1_Missense_Mutation_p.S11F|H3F3B_ENST00000589599.1_Missense_Mutation_p.S11F|H3F3B_ENST00000586607.1_Missense_Mutation_p.S11F|H3F3B_ENST00000587560.1_Missense_Mutation_p.S11F|H3F3B_ENST00000593254.1_Intron	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	11					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCACCGGTGGACTTACGAGC	0.632000											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	29					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606094	21606094	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:21606094T>C	ENST00000281523.2	-	3	766	c.248A>G	c.(247-249)aAc>aGc	p.N83S	ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	83						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTGGCAAATGTTGCATGATAT	0.343000													49	59					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175184	57175184	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:57175184C>T	ENST00000537055.2	-	2	1614	c.1383G>A	c.(1381-1383)ctG>ctA	p.L461L		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTGCTGGATCAGGTAGGAGC	0.682000													74	80					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63154435	63154435	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:63154435C>T	ENST00000449996.3	+	3	249	c.177C>T	c.(175-177)atC>atT	p.I59I	RGS9_ENST00000443584.3_Silent_p.I59I|RGS9_ENST00000262406.9_Silent_p.I59I|RGS9_ENST00000577186.1_3'UTR	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	59	DEP.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGCAATGGATCGTCCAGCGGC	0.507000													78	196					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79668245	79668245	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:79668245G>A	ENST00000275034.4	-	32	3896	c.3729C>T	c.(3727-3729)agC>agT	p.S1243S	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1243	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCACAATAGGGCTTCCAGGCT	0.294000													22	4					0	0	1	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305503	39305503	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:39305503G>A	ENST00000343246.4	-	1	551	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	178						keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCACAAGGGGCGGGGGCAG	0.547000													14	12					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145659005	145659005	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:145659005G>A	ENST00000296575.3	+	13	2654	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	667	EGF-like 2.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TCCTCAATGTGAACAAGTGGA	0.443000													81	78					0	0	1	0	0
GKAP1	80318	broad.mit.edu	37	9	86399665	86399665	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:86399665G>A	ENST00000376371.2	-	6	927	c.527C>T	c.(526-528)cCt>cTt	p.P176L	GKAP1_ENST00000376365.3_Missense_Mutation_p.P176L	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	176					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TACTGTGAGAGGTCTGTCTTT	0.299000													34	128					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7586120	7586120	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:7586120G>A	ENST00000313599.3	-	3	352	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	CD163L1_ENST00000416109.2_Missense_Mutation_p.R99C|CD163L1_ENST00000396630.1_Missense_Mutation_p.R99C			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	99	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTCCAAAACGAAACATGGCG	0.478000													41	49					0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31600528	31600528	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:31600528C>T	ENST00000326132.5	+	7	694	c.535C>T	c.(535-537)Cta>Tta	p.L179L	RNF185_ENST00000426256.2_Silent_p.L117L|RNF185_ENST00000266252.7_Silent_p.L123L	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	179						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						ACGCCTCTTCCTATTTGTGGC	0.562000													52	82					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125396518	125396518	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:125396518G>A	ENST00000536769.1	-	1	3376	c.1800C>T	c.(1798-1800)caC>caT	p.H600H	UBC_ENST00000339647.5_Silent_p.H600H|UBC_ENST00000538617.1_Silent_p.H220H|UBC_ENST00000546120.1_Silent_p.H524H			P0CG48	UBC_HUMAN	ubiquitin C	600	Ubiquitin-like 8.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGAGCACCAGGTGCAGGGTGG	0.552000													56	76					0	0	1	0	0
GKAP1	80318	broad.mit.edu	37	9	86399666	86399666	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:86399666G>A	ENST00000376371.2	-	6	926	c.526C>T	c.(526-528)Cct>Tct	p.P176S	GKAP1_ENST00000376365.3_Missense_Mutation_p.P176S	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	176					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						ACTGTGAGAGGTCTGTCTTTT	0.299000													34	128					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21792937	21792937	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:21792937C>T	ENST00000206660.6	+	14	1923	c.1923C>T	c.(1921-1923)gcC>gcT	p.A641A	RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000557771.1_Silent_p.A603A|RPGRIP1_ENST00000400017.2_Silent_p.A641A|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000307974.4_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	641					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CATCTGCCGCCCTAGCTCAGG	0.512000													40	55					0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	64022544	64022544	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:64022544G>A	ENST00000373789.3	-	2	193	c.97C>T	c.(97-99)Cga>Tga	p.R33*	RTKN2_ENST00000395260.3_Nonsense_Mutation_p.R33*|RTKN2_ENST00000395265.1_Nonsense_Mutation_p.R33*	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	33					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TCTCGCATTCGAATTTCTAAG	0.333000													7	10					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111317000	111317000	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:111317000C>T	ENST00000352690.4	+	6	1081	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	CD96_ENST00000283285.5_Missense_Mutation_p.P297S|CD96_ENST00000438817.2_Missense_Mutation_p.P281S	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	297	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GAATGTATTTCCCAAAGCAAA	0.323000									Opitz Trigonocephaly syndrome				68	84					0	0	1	0	0
LIMS2	55679	broad.mit.edu	37	2	128415080	128415080	+	Missense_Mutation	SNP	G	G	A	rs138668344		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:128415080G>A	ENST00000409455.1	-	2	688	c.53C>T	c.(52-54)tCc>tTc	p.S18F	LIMS2_ENST00000410011.1_Missense_Mutation_p.S18F|LIMS2_ENST00000355119.4_Missense_Mutation_p.S23F|LIMS2_ENST00000324938.5_Missense_Mutation_p.S47F|LIMS2_ENST00000545738.2_Missense_Mutation_p.S45F|LIMS2_ENST00000409808.2_Missense_Mutation_p.S18F			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	23	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CTCGGCGGGGGAGAAGCGGGC	0.642000													67	98					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48601065	48601065	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:48601065G>A	ENST00000323776.5	+	12	1846	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.G525R	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	525					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TACTCTATTAGGAGGTGCTAT	0.483000													61	40					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354168	10354168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:10354168G>A	ENST00000255381.2	-	29	4020	c.3910C>T	c.(3910-3912)Cag>Tag	p.Q1304*	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1304					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGGGATAGCTGAGAAACCATA	0.383000													60	4					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325421	150325421	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:150325421T>G	ENST00000328902.5	-	3	481	c.265A>C	c.(265-267)Aag>Cag	p.K89Q	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	89							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAAGCTCCTTCCCAGCCCAC	0.592000													140	75					0	0	1	0	0
TWF2	11344	broad.mit.edu	37	3	52264891	52264891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:52264891G>A	ENST00000305533.5	-	6	847	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	TLR9_ENST00000597542.1_5'UTR|TLR9_ENST00000494383.1_Missense_Mutation_p.P62L|TWF2_ENST00000499914.2_Nonsense_Mutation_p.Q202*	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCACCATCTGGATGTAGTTG	0.617000													11	13					0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1580207	1580207	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:1580207G>A	ENST00000397374.3	-	4	576	c.449C>T	c.(448-450)tCc>tTc	p.S150F	DUSP8_ENST00000331588.4_Missense_Mutation_p.S150F|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	150					inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GCAGGGCTGGGAGAGGCTCAT	0.662000													12	22					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	989295	989295	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:989295C>T	ENST00000379370.2	+	34	5864	c.5814C>T	c.(5812-5814)ccC>ccT	p.P1938P		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1938	Laminin G-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCTCCCAGCCCGTGGTGCTGC	0.637000													8	11					0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15953255	15953255	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:15953255A>T	ENST00000480945.1	+	2	401	c.230A>T	c.(229-231)aAg>aTg	p.K77M		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	77	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTACGACAGAAGGAGAATGCA	0.493000													31	45					0	0	1	0	0
SLC8B1	80024	broad.mit.edu	37	12	113753248	113753248	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:113753248G>A	ENST00000552014.1	-	12	1542	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	SLC24A6_ENST00000546737.1_Missense_Mutation_p.P287S|SLC24A6_ENST00000202831.3_Missense_Mutation_p.P343S|SLC24A6_ENST00000553238.1_5'UTR			Q6J4K2	NCKX6_HUMAN		343					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						TCCACGACGGGGACTGTGAGG	0.607000													4	4					0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715227	92715227	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:92715227G>A	ENST00000257068.2	+	2	844	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	280					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.E280K(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CAACCCCCAAGAAATGGCTCC	0.507000													72	114					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47938579	47938579	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:47938579G>C	ENST00000402813.3	-	10	2281	c.2139C>G	c.(2137-2139)atC>atG	p.I713M	CNGA1_ENST00000514170.1_Missense_Mutation_p.I644M|CNGA1_ENST00000420489.2_Missense_Mutation_p.I644M|CNGA1_ENST00000544810.1_Missense_Mutation_p.I644M|CNGA1_ENST00000358519.4_Missense_Mutation_p.I644M			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	644					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						ACTCAGCCAAGATTCGGGCAA	0.418000													70	76					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55044266	55044266	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:55044266C>T	ENST00000335056.3	+	2	77	c.39C>T	c.(37-39)ttC>ttT	p.F13F																	endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GCCTAGGATTCTGCCTGAACC	0.483000													45	42					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167085261	167085261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:167085261C>T	ENST00000375387.4	-	22	4489	c.4149G>A	c.(4147-4149)tgG>tgA	p.W1383*	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.W1371*|SCN9A_ENST00000303354.6_Nonsense_Mutation_p.W1383*|SCN9A_ENST00000409435.1_Nonsense_Mutation_p.W1382*			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1382			Missing (in CIPAR; significant reduction in membrane localization of the mutant protein compared to the wild-type; complete loss of function of the sodium channel).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCAGGTTTTTCCATCGCACAT	0.393000													88	211					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122078450	122078450	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:122078450G>A	ENST00000334010.7	-	16	2845	c.2424C>T	c.(2422-2424)ctC>ctT	p.L808L	RP5-1101C3.1_ENST00000592542.1_RNA|CADPS2_ENST00000412584.2_Silent_p.L804L|CADPS2_ENST00000313070.7_Silent_p.L804L|CADPS2_ENST00000449022.2_Silent_p.L807L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	807	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAGCTTTCTCGAGACATTTTC	0.453000													27	49					0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159840521	159840521	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:159840521T>A	ENST00000297151.4	-	5	899	c.512A>T	c.(511-513)aAt>aTt	p.N171I		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	171					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTGTAGCCATTCCACCGATC	0.423000													51	83					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922597	24922597	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:24922597C>T	ENST00000329468.2	+	1	2057	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTCCTCTTTCCTTCCTGACT	0.532000													104	17					0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67357610	67357610	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:67357610G>A	ENST00000396623.3	+	6	542	c.511G>A	c.(511-513)Gga>Aga	p.G171R	ADHFE1_ENST00000415254.1_Missense_Mutation_p.G123R|ADHFE1_ENST00000379385.4_Missense_Mutation_p.G171R|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	171					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CATTGGCAAGGGAAAGCCTGT	0.438000													99	337					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26291229	26291229	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:26291229G>A	ENST00000335473.7	+	28	4900	c.4650G>A	c.(4648-4650)agG>agA	p.R1550R	CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000597614.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|MYO18B_ENST00000407587.2_Silent_p.R1551R|MYO18B_ENST00000536101.1_Silent_p.R1550R|CTA-125H2.2_ENST00000599792.1_RNA	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1550	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGACAGCCAGGAAAGAGCTGG	0.552000													3	11					0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916670	42916670	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:42916670G>A	ENST00000316161.4	-	1	963	c.639C>T	c.(637-639)ttC>ttT	p.F213F	ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.F213F	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	213					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CAAACCTTGGGAAAAGAAGGT	0.562000													28	51					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69020414	69020414	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:69020414A>G	ENST00000288368.4	+	24	3063	c.2786A>G	c.(2785-2787)cAc>cGc	p.H929R		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	929					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCCCCACTGCACAGCAGTGAT	0.413000													14	70					0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110682807	110682807	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:110682807G>A	ENST00000394634.2	-	4	731	c.524C>T	c.(523-525)tCt>tTt	p.S175F	CFI_ENST00000512148.1_Missense_Mutation_p.S175F|CFI_ENST00000394635.3_Missense_Mutation_p.S175F	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	175	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GGAATTTATAGAGAGATCAGA	0.358000													45	47					0	0	1	0	0
CCL28	56477	broad.mit.edu	37	5	43388547	43388547	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:43388547C>T	ENST00000361115.4	-	2	170	c.96G>A	c.(94-96)acG>acA	p.T32T	CCL28_ENST00000537013.1_Silent_p.T32T|CCL28_ENST00000513525.1_5'UTR	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	32					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						GTGAAACCTCCGTGCAACAGC	0.423000													26	20					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198723533	198723533	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:198723533C>T	ENST00000367376.2	+	32	3810	c.3639_splice	c.e32+1	p.F1213_splice	PTPRC_ENST00000352140.3_Splice_Site_p.F1165_splice|PTPRC_ENST00000594404.1_Splice_Site_p.F1052_splice|PTPRC_ENST00000348564.6_Splice_Site_p.F1054_splice|PTPRC_ENST00000442510.2_Splice_Site_p.F1215_splice	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1213	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTCCACATTCGTAAGTATCC	0.383000													31	80					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105511567	105511567	+	Silent	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:105511567A>G	ENST00000276654.5	-	4	561	c.453T>C	c.(451-453)ggT>ggC	p.G151G	LRP12_ENST00000424843.2_Silent_p.G132G	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	151	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCAGTCTGAAACCCTTTCTAG	0.378000													34	118					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140306	3140306	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:3140306G>A	ENST00000252463.2	-	5	1051	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	ZSCAN10_ENST00000538082.2_Silent_p.L240L|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	322					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CAAAGGCACAGGAAGGAGCGC	0.677000													4	25					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40312111	40312111	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:40312111T>C	ENST00000264661.3	-	16	3333	c.3001A>G	c.(3001-3003)Acc>Gcc	p.T1001A	KCNH4_ENST00000607371.1_Missense_Mutation_p.T1001A	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	1001					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCTTGGGGTTGGGGGTGAG	0.652000													18	34					0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102479818	102479818	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:102479818A>G	ENST00000260228.2	-	5	673	c.661T>C	c.(661-663)Ttt>Ctt	p.F221L	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	221					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GCAACGGTAAACAAATTAAAA	0.398000													18	22					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48383065	48383065	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:48383065C>T	ENST00000380518.3	-	18	1233		c.e18-1		COL2A1_ENST00000337299.6_Splice_Site	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1						axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CGACAGGACCCTGGAGAGAGT	0.597000													4	9					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146971233	146971233	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:146971233C>T	ENST00000265272.5	-	21	2896	c.2429G>A	c.(2428-2430)gGa>gAa	p.G810E	JAKMIP2_ENST00000507386.1_3'UTR|JAKMIP2_ENST00000333010.6_3'UTR	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	810						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGATCTTATCCATGTTTTCG	0.333000													24	42					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980536	110980536	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:110980536G>A	ENST00000524391.1	-	4	2316	c.1284C>T	c.(1282-1284)aaC>aaT	p.N428N	KCNV1_ENST00000297404.1_Silent_p.N428N			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	428						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AGAAGCGATCGTTAATAATAG	0.448000													119	33					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23821122	23821122	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:23821122C>T	ENST00000354639.3	+	16	2445	c.1981C>T	c.(1981-1983)Cat>Tat	p.H661Y	STK31_ENST00000355870.3_Missense_Mutation_p.H684Y|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.H684Y|STK31_ENST00000428484.1_Missense_Mutation_p.H661Y	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	684							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.H684Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGAAATTTATCATGAGAGAGA	0.318000													44	17					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155749975	155749975	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:155749975G>A	ENST00000159060.2	-	9	1200	c.1098C>T	c.(1096-1098)gcC>gcT	p.A366A		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	366	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTGCCCCAAAGGCCTCCAGTA	0.562000													31	3					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11117598	11117598	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:11117598G>A	ENST00000304623.8	-	13	2430	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	CTNND2_ENST00000458100.2_Silent_p.I314I|CTNND2_ENST00000511377.1_Silent_p.I656I|CTNND2_ENST00000359640.2_Silent_p.I747I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.I410I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	747					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCGCAGACTGGATCACGTACA	0.507000													93	108					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419216	130419216	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:130419216G>A	ENST00000370904.1	-	11	1487	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	IGSF1_ENST00000370900.1_Missense_Mutation_p.H202Y|IGSF1_ENST00000370901.4_Missense_Mutation_p.H202Y|IGSF1_ENST00000370903.3_Missense_Mutation_p.H202Y|IGSF1_ENST00000370910.1_Missense_Mutation_p.H193Y|IGSF1_ENST00000361420.3_Missense_Mutation_p.H202Y			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	202	Ig-like C2-type 2.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ATCTGGATATGAGTGCGGCAG	0.547000													69	7					0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48083131	48083131	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:48083131T>C	ENST00000348904.3	+	4	507	c.295T>C	c.(295-297)Tcc>Ccc	p.S99P	C7orf57_ENST00000539619.1_Missense_Mutation_p.S99P|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000420324.1_Missense_Mutation_p.S144P|C7orf57_ENST00000430738.1_Missense_Mutation_p.S144P	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	99										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AGTGGCCTACTCCCTGCCAGA	0.502000													17	67					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131486734	131486734	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:131486734G>A	ENST00000309926.4	+	1	92	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	4						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CATGGGGGATGAGCTGGCACC	0.592000													111	88					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94495990	94495990	+	Nonsense_Mutation	SNP	C	C	T	rs61750143		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:94495990C>T	ENST00000370225.3	-	29	4432	c.4346G>A	c.(4345-4347)tGg>tAg	p.W1449*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1449					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTACGGAAGCCACCCTTCCTT	0.592000													20	44					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110495297	110495297	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:110495297C>T	ENST00000378402.5	+	57	9643	c.9539C>T	c.(9538-9540)tCc>tTc	p.S3180F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3180					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGCAGGTTCCAAAGTCCTG	0.388000										HNSCC(38;0.096)			27	48					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183539972	183539972	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:183539972G>A	ENST00000413720.1	-	5	751	c.477C>T	c.(475-477)gtC>gtT	p.V159V	NCF2_ENST00000367536.1_Silent_p.V204V|NCF2_ENST00000418089.1_Silent_p.V123V|NCF2_ENST00000367535.3_Silent_p.V204V	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	204					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CAGATGCCACGACCTAAAATC	0.532000													35	66					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234093124	234093124	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:234093124C>T	ENST00000359570.5	+	22	2196	c.2196C>T	c.(2194-2196)tcC>tcT	p.S732S	INPP5D_ENST00000450745.1_Silent_p.S496S|INPP5D_ENST00000455936.2_Silent_p.S496S			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	744					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGACCAAGTCCCAGACCAAAT	0.527000													17	67					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228475608	228475608	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:228475608G>A	ENST00000570156.2	+	41	11119	c.11045G>A	c.(11044-11046)cGg>cAg	p.R3682Q	OBSCN_ENST00000366709.4_Missense_Mutation_p.R372Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.R372Q|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2100Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3253Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3253Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2715	Ig-like 37.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACAGCGGGCGGTACTCATGC	0.607000													46	23					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418827	8418827	+	Silent	SNP	C	C	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:8418827C>A	ENST00000337907.3	-	21	4402	c.3768G>T	c.(3766-3768)ctG>ctT	p.L1256L	RERE_ENST00000377464.1_Silent_p.L988L|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Silent_p.L702L|RERE_ENST00000400908.2_Silent_p.L1256L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1256					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)		CGTACTCGCTCAGAGTCCGAA	0.657000													56	72					7.92265e-33	8.02649e-33	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599171	136599171	+	Missense_Mutation	SNP	C	C	T	rs145724464		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:136599171C>T	ENST00000531224.1	-	4	1100	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	BCLAF1_ENST00000530767.1_Missense_Mutation_p.R283Q|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R281Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R283Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R281Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R281Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	283					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGGACTGTATCGACTAGATCC	0.443000													11	24					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27203938	27203938	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:27203938C>T	ENST00000357467.2	-	13	1417	c.1215G>A	c.(1213-1215)taG>taA	p.*405*	NEK10_ENST00000429845.2_Intron|NEK10_ENST00000295720.6_Intron|NEK10_ENST00000498182.1_Intron|NEK10_ENST00000383770.3_Intron|NEK10_ENST00000383771.4_Intron			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	0							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCAATGTGATCTAGTAAGTAC	0.423000													85	112					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55979560	55979560	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:55979560C>T	ENST00000263923.4	-	7	1182	c.887G>A	c.(886-888)gGt>gAt	p.G296D		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	296	Ig-like C2-type 3.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCGGGTTACACCATCTATAGT	0.443000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			56	52					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826628	13826628	+	Silent	SNP	C	C	T	rs142287236	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:13826628C>T	ENST00000324750.3	+	1	1086	c.864C>T	c.(862-864)tcC>tcT	p.S288S		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	288					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTGTAATTCCGTGATGGACC	0.463000													85	71					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101515034	101515034	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:101515034G>A	ENST00000553692.1	+	0	28				MIR544A_ENST00000384855.1_RNA																							agcagattctgattcagggac	0.428000													19	20					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63700038	63700038	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:63700038C>T	ENST00000279873.7	+	3	783	c.373C>T	c.(373-375)Cac>Tac	p.H125Y		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	125					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ATGTGGCTTCCACGCTGGACC	0.478000													36	33					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16861220	16861220	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:16861220C>T	ENST00000524140.2	+	6	2185	c.1767C>T	c.(1765-1767)tcC>tcT	p.S589S	NWD1_ENST00000379808.3_Silent_p.S589S|NWD1_ENST00000339803.6_Silent_p.S454S|NWD1_ENST00000552788.1_Silent_p.S589S|NWD1_ENST00000549814.1_Silent_p.S589S|NWD1_ENST00000523826.1_Silent_p.S383S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	589	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGTGTCTTCCCGGTAAGTCT	0.507000													13	16					0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3744941	3744941	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:3744941G>A	ENST00000252505.3	+	10	907	c.745G>A	c.(745-747)Gat>Aat	p.D249N	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	268							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ATTCCAGAATGATGAGAATGG	0.398000										HNSCC(21;0.051)			93	52					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49700787	49700787	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:49700787C>T	ENST00000296452.4	+	7	11310	c.11196C>T	c.(11194-11196)ccC>ccT	p.P3732P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3732					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACTCCGGGCCCGCTGCACTGC	0.627000													32	54					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183217380	183217380	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:183217380G>A	ENST00000341319.3	-	4	1180	c.1145C>T	c.(1144-1146)tCa>tTa	p.S382L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	382										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CTGCTTACCTGAGATGTAGAC	0.473000													90	102					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50149681	50149681	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:50149681G>A	ENST00000451037.2	-	2	1074	c.134C>T	c.(133-135)cCa>cTa	p.P45L	CA10_ENST00000285273.4_Missense_Mutation_p.P45L|CA10_ENST00000340813.6_Missense_Mutation_p.P51L|CA10_ENST00000442502.2_Missense_Mutation_p.P45L|CA10_ENST00000570565.1_5'UTR	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	45					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GTACTTACCTGGAACAAAGCT	0.368000													61	36					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49764870	49764870	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:49764870C>T	ENST00000561648.1	-	3	142	c.89G>A	c.(88-90)gGa>gAa	p.G30E	ZNF423_ENST00000262383.2_Missense_Mutation_p.G30E|ZNF423_ENST00000562871.1_5'UTR|ZNF423_ENST00000563137.2_5'UTR|ZNF423_ENST00000562520.1_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	30					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTCTGGCTCTCCTTCTAGGCC	0.488000													88	198					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478616	21478616	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:21478616G>A	ENST00000281523.2	-	5	1037	c.519C>T	c.(517-519)atC>atT	p.I173I	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	173	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTTAGAGGTGATCTCAGTTG	0.448000													39	57					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131471869	131471869	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:131471869C>T	ENST00000261654.5	+	6	1279	c.720C>T	c.(718-720)atC>atT	p.I240I	GPR133_ENST00000535015.1_Silent_p.I272I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	240					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CGGATGAGATCGCCATGTACT	0.567000													36	57					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51329191	51329191	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:51329191C>T	ENST00000326856.4	-	6	758	c.629G>A	c.(628-630)gGa>gAa	p.G210E	KLK15_ENST00000301421.2_3'UTR|KLK15_ENST00000416184.1_Missense_Mutation_p.G126E|KLK15_ENST00000598239.1_Missense_Mutation_p.G211E|KLK15_ENST00000596931.1_3'UTR	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	211	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GACCAGGGGTCCCCCAGAGTC	0.557000													20	20					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147090643	147090643	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:147090643C>T	ENST00000234739.3	+	8	1422	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	228					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATCTGCCCTTCGGAATGATCC	0.443000			T	"""IGH@, IGL@"""	B-ALL								147	276					0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233322373	233322373	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:233322373G>A	ENST00000295463.3	+	6	824	c.747G>A	c.(745-747)ggG>ggA	p.G249G		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	249					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCTGGACGGGAAGAACCTGG	0.627000													23	32					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143412150	143412150	+	Splice_Site	SNP	C	C	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:143412150C>G	ENST00000316549.6	-	5	742		c.e5-1			NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9						regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CATAATTAACCTGTTGAAGAG	0.368000													29	29					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637395	248637395	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:248637395C>T	ENST00000359594.2	+	1	769	c.744C>T	c.(742-744)tcC>tcT	p.S248S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGCTCCTCCCACATGATCA	0.557000													83	426					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62417063	62417063	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:62417063G>A	ENST00000330574.2	-	2	541	c.489C>T	c.(487-489)caC>caT	p.H163H		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	163					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GAACACGCTGGTGCTGGCCTG	0.557000													22	31					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945102	151945102	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:151945102G>A	ENST00000355193.2	-	14	2635	c.2417C>T	c.(2416-2418)tCc>tTc	p.S806F	KMT2C_ENST00000262189.6_Missense_Mutation_p.S806F					lysine (K)-specific methyltransferase 2C																		TCCAGCAGAGGAACTAAGAGC	0.438000													34	806					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922086	37922086	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:37922086G>A	ENST00000346872.3	-	8	1548	c.1487C>T	c.(1486-1488)tCg>tTg	p.S496L	IKZF3_ENST00000583368.1_Missense_Mutation_p.S249L|IKZF3_ENST00000377945.3_Missense_Mutation_p.S362L|IKZF3_ENST00000377958.2_Missense_Mutation_p.S409L|IKZF3_ENST00000377952.2_Missense_Mutation_p.S275L|IKZF3_ENST00000439016.2_Missense_Mutation_p.S401L|IKZF3_ENST00000439167.2_Missense_Mutation_p.S423L|IKZF3_ENST00000394189.2_Missense_Mutation_p.S314L|IKZF3_ENST00000346243.3_Missense_Mutation_p.S418L|IKZF3_ENST00000467757.1_Missense_Mutation_p.S440L|IKZF3_ENST00000350532.3_Missense_Mutation_p.S457L|IKZF3_ENST00000377944.3_Missense_Mutation_p.S353L|IKZF3_ENST00000351680.3_Missense_Mutation_p.S457L|IKZF3_ENST00000535189.1_Missense_Mutation_p.S462L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	496					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TATGTGAGACGAGAACTCATA	0.473000													76	86					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79363891	79363891	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:79363891G>A	ENST00000444841.1	-	0	447																											TGATAATCAGGAGGTAGAAGA	0.438000													3	7					0	0	1	0	0
ARSK	153642	broad.mit.edu	37	5	94927239	94927239	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:94927239G>A	ENST00000380009.4	+	6	1211	c.1006G>A	c.(1006-1008)Gtt>Att	p.V336I		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	336						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TAGTGCACATGTTCCGCTTTT	0.423000													138	174					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72596859	72596859	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:72596859G>A	ENST00000264839.7	+	1	133	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	RIMS1_ENST00000520567.1_Missense_Mutation_p.E45K|RIMS1_ENST00000522291.1_Missense_Mutation_p.E45K|RIMS1_ENST00000518273.1_Missense_Mutation_p.E45K|RIMS1_ENST00000348717.5_Missense_Mutation_p.E45K|RIMS1_ENST00000491071.2_Missense_Mutation_p.E45K|RIMS1_ENST00000521978.1_Missense_Mutation_p.E45K|RIMS1_ENST00000517960.1_Missense_Mutation_p.E45K			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	45	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCGGCAGAAGGAAGAGGAGGA	0.602000													13	1					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288862	125288862	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:125288862G>A	ENST00000304880.2	-	1	710	c.711C>T	c.(709-711)tcC>tcT	p.S237S		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AACTGCAGGTGGAAAAGGCCT	0.537000													28	74					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144886747	144886747	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:144886747G>A	ENST00000356994.2	-	21	3006	c.3000C>T	c.(2998-3000)taC>taT	p.Y1000Y	SCRIB_ENST00000377533.3_Silent_p.Y919Y|SCRIB_ENST00000320476.3_Silent_p.Y1000Y	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1000	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTCCACTGGGTATGGCCCTT	0.677000													20	55					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124826482	124826482	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:124826482G>A	ENST00000356219.3	-	35	5251	c.5096C>T	c.(5095-5097)tCg>tTg	p.S1699L	NCOR2_ENST00000429285.2_Missense_Mutation_p.S1682L|NCOR2_ENST00000405201.1_Missense_Mutation_p.S1692L|NCOR2_ENST00000404621.1_Missense_Mutation_p.S1682L|NCOR2_ENST00000404121.2_Missense_Mutation_p.S1253L|NCOR2_ENST00000397355.1_Missense_Mutation_p.S1683L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1700					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CATCTGCTGCGAGGTGATGTA	0.652000													74	99					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665925	20665925	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:20665925C>T	ENST00000357366.3	+	1	431	c.431C>T	c.(430-432)tCc>tTc	p.S144F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTTTCTTCTCCTTGGGCTCT	0.493000													19	17					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54074911	54074911	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:54074911C>T	ENST00000253144.9	+	6	1396	c.63C>T	c.(61-63)gcC>gcT	p.A21A	ZNF331_ENST00000511154.1_Silent_p.A21A|ZNF331_ENST00000513265.1_Silent_p.A21A|ZNF331_ENST00000411977.2_Silent_p.A21A|ZNF331_ENST00000512387.1_Silent_p.A21A|ZNF331_ENST00000511593.2_Silent_p.A21A|ZNF331_ENST00000449416.1_Silent_p.A21A|ZNF331_ENST00000513999.1_Silent_p.A21A	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AGGAGTGGGCCTGTCTGAACT	0.507000			T	?	follicular thyroid adenoma								122	119					0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3813864	3813864	+	Silent	SNP	T	T	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:3813864T>A	ENST00000262961.4	-	14	2206	c.2196A>T	c.(2194-2196)atA>atT	p.I732I		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	732						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		AGGTGACAGATATGGTGACCT	0.617000													61	62					0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51514603	51514603	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:51514603G>A	ENST00000396402.1	-	5	724	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	CYP19A1_ENST00000260433.2_Silent_p.L191L|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Silent_p.L191L|CYP19A1_ENST00000557858.1_Silent_p.L191L|CYP19A1_ENST00000405913.3_Silent_p.L191L|CYP19A1_ENST00000559878.1_Silent_p.L191L	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	191					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	ACACGACGCAGAAGGGTCAAC	0.488000													47	55					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111964030	111964030	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:111964030G>A	ENST00000369732.3	-	8	826	c.771C>T	c.(769-771)atC>atT	p.I257I	OVGP1_ENST00000481495.1_5'UTR|OVGP1_ENST00000540696.1_Intron	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	257					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGATCCCCATGATGAGCTTCT	0.507000													37	42					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3604304	3604304	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:3604304C>T	ENST00000301749.7	-	0	2611				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCACCATCATCCCTAACGGTG	0.587000													24	25					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299644	125299644	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:125299644C>T	ENST00000538699.1	-	2	344	c.264G>A	c.(262-264)acG>acA	p.T88T	DCAF12L2_ENST00000360028.2_Silent_p.T88T	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	88										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCTGGCGCTCCGTCAGCAGCT	0.682000													42	1					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70194056	70194056	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:70194056C>T	ENST00000550536.1	+	7	1461	c.1004C>T	c.(1003-1005)cCt>cTt	p.P335L	RAB3IP_ENST00000483530.2_Missense_Mutation_p.P319L|RAB3IP_ENST00000362025.5_Missense_Mutation_p.P335L|RAB3IP_ENST00000553099.1_Missense_Mutation_p.P113L|RAB3IP_ENST00000325555.9_Missense_Mutation_p.P113L|RAB3IP_ENST00000551641.1_Missense_Mutation_p.P113L|RAB3IP_ENST00000247833.7_Missense_Mutation_p.P319L|RAB3IP_ENST00000550847.1_Missense_Mutation_p.P26L	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	335					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGACGTGTCCTTTCTTAGAC	0.343000													21	27					0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53504483	53504483	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:53504483C>T	ENST00000262133.6	+	16	2571	c.2434C>T	c.(2434-2436)Cca>Tca	p.P812S	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	812	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACAGATTTCCCCAGGTGGCCA	0.502000													53	58					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624465	53624465	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:53624465C>T	ENST00000219022.2	+	5	1170	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	364	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CTCAAACTCTCCCTAATGCTG	0.408000													128	147					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40438467	40438467	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:40438467G>A	ENST00000381793.2	-	4	1717	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	RBM47_ENST00000319592.4_Intron|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.P403S|RBM47_ENST00000381795.6_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.P441S			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	441						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCTGTACCAGGTTTAATGGCA	0.448000													69	73					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16893807	16893807	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:16893807G>A	ENST00000430580.2	-	25	3593	c.2706C>T	c.(2704-2706)gtC>gtT	p.V902V	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	902	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTCCTGCAAGACTTCAGGCC	0.488000													69	1596					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101513657	101513657	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:101513657C>T	ENST00000553692.1	+	0	28				MIR539_ENST00000365690.2_RNA																							GCTGCTGTTTCATACTTGAGG	0.453000													42	58					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19168236	19168236	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:19168236G>A	ENST00000375371.3	-	5	1599	c.1578C>T	c.(1576-1578)ctC>ctT	p.L526L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	526					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CAGTGTGGTTGAGGAAGGTGC	0.607000													45	58					0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76980028	76980028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:76980028G>A	ENST00000315938.4	-	8	815	c.565C>T	c.(565-567)Cag>Tag	p.Q189*	GDPD4_ENST00000376217.2_Nonsense_Mutation_p.Q189*	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	189					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TCCTTCTCCTGAATGCAGGGA	0.433000													46	39					0	0	1	0	0
IGHV3-15	28448	broad.mit.edu	37	14	106610569	106610569	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:106610569C>T	ENST00000390603.2	-	0	180																											AAGGGACCCCCCAGGCTTTAC	0.572000													54	74					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97147652	97147652	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:97147652G>A	ENST00000524981.3	+	23	3169	c.3169G>A	c.(3169-3171)Gaa>Aaa	p.E1057K				Q6ZTY8	CL063_HUMAN		1031										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ACATGAGGTGGAAGCTGAAAT	0.403000													35	53					0	0	1	0	0
SHROOM1	134549	broad.mit.edu	37	5	132159935	132159935	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:132159935C>T	ENST00000378679.3	-	7	2222	c.1418G>A	c.(1417-1419)gGg>gAg	p.G473E	SHROOM1_ENST00000378676.1_Missense_Mutation_p.G404E|SHROOM1_ENST00000319854.3_Missense_Mutation_p.G473E	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	473					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTGCAGTCCCAGTGGGGGT	0.567000													54	62					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74315125	74315125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:74315125C>T	ENST00000395792.2	+	9	1232	c.1132C>T	c.(1132-1134)Cag>Tag	p.Q378*	AFP_ENST00000226359.2_Nonsense_Mutation_p.Q378*	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	378	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAAAGGATACCAGGAGTTATT	0.363000									Alpha-Fetoprotein, Hereditary Persistence of				28	41					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263477	248263477	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:248263477C>T	ENST00000366478.2	+	3	1137	c.800C>T	c.(799-801)cCa>cTa	p.P267L	OR2L13_ENST00000358120.2_Missense_Mutation_p.P267L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTCCGCTCACCAGCTGAAGAC	0.468000													62	124					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103311701	103311701	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:103311701G>A	ENST00000520539.1	-	24	3787	c.3181C>T	c.(3181-3183)Cca>Tca	p.P1061S	UBR5_ENST00000521922.1_Missense_Mutation_p.P1055S|UBR5_ENST00000220959.4_Missense_Mutation_p.P1061S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1061					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GAGGTGCTTGGTCCTTGACCA	0.458000													42	106					0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411705	39411705	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:39411705C>T	ENST00000394008.1	+	1	70	c.68C>T	c.(67-69)aCt>aTt	p.T23I		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	23						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AAGCCCACCACTGTGACCACC	0.622000													25	30					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212584	1212584	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:1212584C>T	ENST00000304460.10	+	4	704	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	216					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCGCGGCATCGAGACCACCG	0.672000													65	81					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35541067	35541067	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:35541067G>A	ENST00000287272.2	+	5	593	c.573G>A	c.(571-573)gtG>gtA	p.V191V	UNC5D_ENST00000453357.2_Silent_p.V186V|UNC5D_ENST00000404895.2_Silent_p.V191V|UNC5D_ENST00000420357.1_Silent_p.V191V|UNC5D_ENST00000416672.1_Silent_p.V191V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	191	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)		TCCTGTAGGTGGAATGGCTGA	0.448000													15	18					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35044201	35044201	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:35044201G>A	ENST00000312292.5	+	2	1622	c.1575G>A	c.(1573-1575)atG>atA	p.M525I	C9orf131_ENST00000354479.5_Missense_Mutation_p.M452I|C9orf131_ENST00000421362.2_Missense_Mutation_p.M477I	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	525										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CCACCCTTATGGAACCACACA	0.507000													137	149					0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984145	41984145	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:41984145C>T	ENST00000333141.5	+	1	433	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	112										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TCCCTTCGTTCCACGTGTACG	0.562000													35	60					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70818163	70818163	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:70818163G>A	ENST00000358731.4	+	23	5302	c.5039G>A	c.(5038-5040)aGg>aAg	p.R1680K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1680					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATGACAAGAAGGAAATTCCAA	0.363000													63	73					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882995	228882995	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:228882995C>T	ENST00000392056.3	-	7	2621	c.2575G>A	c.(2575-2577)Gga>Aga	p.G859R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G859R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	859						cytoplasm	protein binding	p.G859R(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GACCTTTGTCCTTCGGAAGAG	0.488000													130	84					0	0	1	0	0
TMED5	50999	broad.mit.edu	37	1	93620384	93620384	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:93620384C>T	ENST00000370282.3	-	4	1018	c.533G>A	c.(532-534)aGa>aAa	p.R178K	TMED5_ENST00000483033.1_5'UTR|TMED5_ENST00000479918.1_Silent_p.*194*	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	178					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		TTCAAATGCTCTAAGCAGAGT	0.373000													86	109					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141722126	141722126	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:141722126C>T	ENST00000475668.2	+	7	823	c.769C>T	c.(769-771)Cga>Tga	p.R257*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.R257*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	257	Maltase.				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)	GCTCTCCACTCGACTGCCTAG	0.522000													54	137					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322601	55322601	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:55322601C>T	ENST00000314644.2	+	1	819	c.819C>T	c.(817-819)gtC>gtT	p.V273V		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CCTATGCTGTCATCTTGCTCT	0.463000										HNSCC(20;0.049)			51	73					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650771	90650771	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:90650771C>T	ENST00000282146.4	+	2	1092	c.651C>T	c.(649-651)acC>acT	p.T217T		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	217						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCATGTACACCCCCATTGAAG	0.562000													53	106					0	0	1	0	0
FGF16	8823	broad.mit.edu	37	X	76709696	76709696	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:76709696G>A	ENST00000439435.1	+	1	49	c.49G>A	c.(49-51)Gag>Aag	p.E17K				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						AGCATCCGGGGAGTGGACTCT	0.418000													19	0					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10441113	10441113	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:10441113C>T	ENST00000245503.5	-	15	1840	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	MYH2_ENST00000397183.2_Missense_Mutation_p.E486K|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.E486K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	486	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCAGTTTCTCATTGGTGAAG	0.413000													52	3					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90020985	90020985	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:90020985G>A	ENST00000405460.2	+	47	10085	c.9989G>A	c.(9988-9990)aGa>aAa	p.R3330K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3330					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATGAAGAAAGAAATGAAGAA	0.279000													5	3					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149523330	149523330	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:149523330G>A	ENST00000378016.2	+	0	14416							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGACACAGAGCAACGGCA	0.667000													41	21					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7632524	7632524	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:7632524A>T	ENST00000359156.4	-	16	3614	c.3412T>A	c.(3412-3414)Tct>Act	p.S1138T	CD163_ENST00000396620.3_Intron|CD163_ENST00000432237.2_Intron|CD163_ENST00000541972.1_Intron	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1138					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCATTCCAGAAATAGGAAGA	0.363000													20	37					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067802	190067802	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:190067802C>T	ENST00000367462.3	-	8	1878	c.1647G>A	c.(1645-1647)atG>atA	p.M549I	FAM5C_ENST00000534846.1_Missense_Mutation_p.M447I|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		549						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GACCCAAAATCATATGGACCA	0.473000													54	37					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196434428	196434428	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:196434428G>A	ENST00000451324.2	-	8	682	c.13C>T	c.(13-15)Cac>Tac	p.H5Y	KCNT2_ENST00000294725.8_Silent_p.F211F|KCNT2_ENST00000367433.5_Silent_p.F211F|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.F211F			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	0						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTTACCAGGTGAAGATAAGGC	0.269000													57	49					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43571367	43571367	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:43571367G>A	ENST00000452443.2	-	11	1791	c.1787C>T	c.(1786-1788)tCc>tTc	p.S596F		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	596					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GACCAGCATGGACCTCCCTGT	0.552000													16	0					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33246090	33246090	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:33246090C>T	ENST00000404816.2	+	3	1033	c.680C>T	c.(679-681)tCg>tTg	p.S227L	LTBP1_ENST00000354476.3_Missense_Mutation_p.S227L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	227					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGGACACCTCGTCACCAGTC	0.552000													211	107					0	0	1	0	0
RPRD1A	55197	broad.mit.edu	37	18	33606907	33606907	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:33606907G>A	ENST00000399022.4	-	6	916	c.745C>T	c.(745-747)Cgt>Tgt	p.R249C	RPRD1A_ENST00000590898.1_Missense_Mutation_p.R213C|RPRD1A_ENST00000337059.5_Missense_Mutation_p.R213C|RPRD1A_ENST00000357384.4_Missense_Mutation_p.R249C|RPRD1A_ENST00000319040.6_Missense_Mutation_p.R249C|RPRD1A_ENST00000588737.1_Missense_Mutation_p.R213C	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	249										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TTTTGACAACGAAGAAAATCT	0.388000													25	34					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38183212	38183212	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:38183212C>T	ENST00000394126.1	-	16	2099	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	MED24_ENST00000394127.2_Missense_Mutation_p.E523K|MED24_ENST00000356271.3_Missense_Mutation_p.E523K|MED24_ENST00000501516.3_Missense_Mutation_p.E555K|MED24_ENST00000394128.2_Missense_Mutation_p.E536K			O75448	MED24_HUMAN	mediator complex subunit 24	536					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ATCTTGCCCTCCTCAGGCATG	0.617000											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	35					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131669900	131669900	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:131669900C>T	ENST00000259324.5	+	3	980	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	LRRC8A_ENST00000372599.3_Silent_p.L153L|LRRC8A_ENST00000372600.4_Silent_p.L153L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	153					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CAGCTCGAAGCTGGAGCACTT	0.597000													35	57					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408196	10408196	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:10408196C>T	ENST00000226207.5	-	22	2716	c.2622G>A	c.(2620-2622)agG>agA	p.R874R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	874						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCAGCTCTTTCCTTTTTGCCT	0.433000													21	3					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508366	37508366	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:37508366G>A	ENST00000374660.1	+	40	4014	c.3915G>A	c.(3913-3915)acG>acA	p.T1305T	ANKRD30A_ENST00000602533.1_Silent_p.T1186T|ANKRD30A_ENST00000361713.1_Silent_p.T1186T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1242						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAGTAGTACGATATATAACA	0.363000													17	19					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212831	62212831	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:62212831G>A	ENST00000519846.1	+	3	917	c.445G>A	c.(445-447)Gat>Aat	p.D149N	RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.D149N|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	149	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGCCAATTGGGATCAGAGTAG	0.448000													19	22					0	0	1	0	0
LHPP	64077	broad.mit.edu	37	10	126177016	126177016	+	Silent	SNP	C	C	T	rs147556885	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:126177016C>T	ENST00000368842.5	+	3	367	c.339C>T	c.(337-339)atC>atT	p.I113I	LHPP_ENST00000392757.4_Silent_p.I113I|LHPP_ENST00000368839.1_Silent_p.I113I	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	113					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		TTGATCAGATCGACACATCCA	0.512000													97	55					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190250	49190250	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:49190250G>A	ENST00000406846.2	-	10	1829	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	FSHR_ENST00000346173.3_Silent_p.I508I|FSHR_ENST00000304421.4_Silent_p.I544I|FSHR_ENST00000541117.1_Silent_p.I306I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	570					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGCGCTTGGCGATCCTGGTGT	0.532000									Gonadal Dysgenesis, 46 XX				27	40					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320396	56320396	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:56320396C>T	ENST00000443188.1	-	5	2290	c.1580G>A	c.(1579-1581)gGa>gAa	p.G527E	NLRP11_ENST00000589093.1_Missense_Mutation_p.G527E|NLRP11_ENST00000360133.3_Missense_Mutation_p.G527E|NLRP11_ENST00000592953.1_Missense_Mutation_p.G428E|NLRP11_ENST00000589824.2_Missense_Mutation_p.G527E	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	527							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTTCATGTATCCCACCGAGTA	0.428000													79	109					0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985574	108985574	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:108985574C>T	ENST00000392806.3	-	2	754	c.586G>A	c.(586-588)Gga>Aga	p.G196R		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	196						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						ATCCTGGCTCCGTCCCCACCG	0.682000													31	28					0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140053886	140053886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140053886C>A	ENST00000504366.1	-	12	3098	c.1279G>T	c.(1279-1281)Gag>Tag	p.E427*	HARS_ENST00000307633.3_Nonsense_Mutation_p.E436*|HARS_ENST00000504156.1_Nonsense_Mutation_p.E496*|HARS_ENST00000431330.2_Nonsense_Mutation_p.E382*|HARS_ENST00000457527.2_Nonsense_Mutation_p.E476*|HARS_ENST00000438307.2_Nonsense_Mutation_p.E456*|HARS_ENST00000415192.2_Nonsense_Mutation_p.E422*|HARS_ENST00000448240.1_Nonsense_Mutation_p.E301*			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	496					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TTGATTTCCTCCACAAGGTCT	0.502000													31	50					8.16277e-20	8.25703e-20	1	1	0
KLHL22	84861	broad.mit.edu	37	22	20819207	20819207	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:20819207G>A	ENST00000328879.4	-	4	1206	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	KLHL22_ENST00000440659.2_Silent_p.F207F	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	350					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCAAGTATACGAAGTTGTTGA	0.552000													81	94					0	0	1	0	0
DHRS11	79154	broad.mit.edu	37	17	34956105	34956105	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:34956105C>T	ENST00000251312.5	+	5	800	c.588C>T	c.(586-588)atC>atT	p.I196I	DHRS11_ENST00000590554.1_Silent_p.I117I	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	196						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						CCCAGTGCATCTCTCCAGGTG	0.592000													56	64					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995378	140995378	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:140995378C>T	ENST00000285879.4	+	4	2474	c.2188C>T	c.(2188-2190)Cct>Tct	p.P730S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	730							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGTTTCCTCCTCAGGG	0.547000										HNSCC(15;0.026)			84	3					0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14176301	14176301	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:14176301C>T	ENST00000306077.4	+	8	869	c.615C>T	c.(613-615)tcC>tcT	p.S205S		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	205						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						ACTTCAAGTCCCTGAGCCTAT	0.537000													26	36					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316063	125316063	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:125316063C>T	ENST00000373688.2	+	1	673	c.615C>T	c.(613-615)gcC>gcT	p.A205A		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TGAAGCTTGCCTGCTCAGATA	0.522000													95	216					0	0	1	0	0
H3F3B	3021	broad.mit.edu	37	17	73775223	73775223	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:73775223G>A	ENST00000254810.4	-	2	165	c.33C>T	c.(31-33)tcC>tcT	p.S11S	H3F3B_ENST00000591890.1_Silent_p.S11S|H3F3B_ENST00000592643.1_Silent_p.S11S|H3F3B_ENST00000589599.1_Silent_p.S11S|H3F3B_ENST00000586607.1_Silent_p.S11S|H3F3B_ENST00000587560.1_Silent_p.S11S|H3F3B_ENST00000593254.1_Intron	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	11					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCACCGGTGGACTTACGAG	0.637000											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	29					0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27458944	27458944	+	Silent	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:27458944A>G	ENST00000375946.4	+	8	1659	c.1056A>G	c.(1054-1056)gcA>gcG	p.A352A	MASTL_ENST00000375940.4_Silent_p.A352A|MASTL_ENST00000342386.6_Silent_p.A352A|MASTL_ENST00000477034.1_3'UTR	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	352	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAAAATCTGCAAATGCCATTG	0.413000													46	54					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101815101	101815101	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:101815101C>T	ENST00000263468.8	+	3	624	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	118							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CTGAAAAATTCCAGCGTGCCC	0.358000													13	22					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665918	157665918	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:157665918C>T	ENST00000368184.3	-	7	1335	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.V348V	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	348	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CACTCTCCTTCACGGTGAGAA	0.522000													88	51					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7614986	7614986	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:7614986C>T	ENST00000221249.6	+	17	2116	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	PNPLA6_ENST00000450331.3_Missense_Mutation_p.S562F|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S610F|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S536F|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000600737.1_Missense_Mutation_p.S601F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	601					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ATCTCCAAGTCCGACTTCTAT	0.622000													61	88					0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346277	102346277	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:102346277G>A	ENST00000328882.4	+	1	376	c.355G>A	c.(355-357)Gct>Act	p.A119T		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CATAGCCATGGCTTTTGACCG	0.453000													136	136					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098466	144098466	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:144098466G>A	ENST00000467773.1	-	4	516	c.517C>T	c.(517-519)Cta>Tta	p.L173L	NOBOX_ENST00000223140.5_Silent_p.L88L|NOBOX_ENST00000483238.1_Silent_p.L173L	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	173					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GAGCGGGCTAGAGTTCTGTCT	0.627000													11	34					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144998507	144998507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:144998507C>A	ENST00000322810.4	-	31	6170	c.6001G>T	c.(6001-6003)Gag>Tag	p.E2001*	PLEC_ENST00000345136.3_Nonsense_Mutation_p.E1864*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E1850*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E1842*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E1887*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E1864*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E1832*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E1891*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E1868*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2001	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCAGGCGCTCGTTCTCCGCC	0.721000													3	29					1	1	1	1	0
MOV10L1	54456	broad.mit.edu	37	22	50580515	50580515	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:50580515G>A	ENST00000262794.5	+	16	2159	c.2076G>A	c.(2074-2076)agG>agA	p.R692R	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.R692R|MOV10L1_ENST00000540615.1_Silent_p.R672R|MOV10L1_ENST00000545383.1_Silent_p.R692R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	692					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TCTAGAATAGGAAAACAATGA	0.438000													24	38					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698897	79698897	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:79698897C>T	ENST00000538312.1	+	5	1193	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	FAM46D_ENST00000308293.5_Missense_Mutation_p.H287Y	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	287										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						CCTCCACAACCATTTCATAGG	0.353000													62	0					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444378	20444378	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:20444378C>T	ENST00000305051.5	+	1	776	c.701C>T	c.(700-702)tCc>tTc	p.S234F		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTGAGTTCCTTTCTCCTC	0.453000													48	49					0	0	1	0	0
TMEM59L	25789	broad.mit.edu	37	19	18726819	18726819	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:18726819C>T	ENST00000600490.1	+	5	628	c.443C>T	c.(442-444)tCc>tTc	p.S148F	TMEM59L_ENST00000262817.3_Missense_Mutation_p.S148F			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	148						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GGGGCCCTCTCCCTCTTGGAC	0.512000													41	39					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32091193	32091193	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:32091193C>T	ENST00000396184.3	-	3	306		c.e3-1		PDE1C_ENST00000321453.7_Splice_Site|PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396191.1_Splice_Site|PDE1C_ENST00000396182.2_Splice_Site	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ATATTTCCTCCTGTAAGAAAA	0.463000													27	19					0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57037297	57037297	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:57037297C>T	ENST00000308031.5	+	5	1994	c.1861C>T	c.(1861-1863)Cat>Tat	p.H621Y	ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TCAAAGAAGTCATACTGGAGA	0.418000													29	38					0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41558050	41558050	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:41558050C>T	ENST00000373060.1	+	12	1857	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	FOXP4_ENST00000373057.3_Missense_Mutation_p.R465W|FOXP4_ENST00000307972.4_Missense_Mutation_p.R467W|FOXP4_ENST00000409208.1_Missense_Mutation_p.R455W|FOXP4_ENST00000373063.3_Missense_Mutation_p.R454W	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	467					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CGCCGACGTCCGGCCCCCCTT	0.632000													142	111					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768623	31768623	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:31768623C>T	ENST00000240587.4	-	2	2403	c.2076G>A	c.(2074-2076)aaG>aaA	p.K692K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	692					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCACCAGCTCCTTGCCATTCT	0.652000													56	47					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129223186	129223186	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:129223186C>T	ENST00000296266.3	+	22	2917	c.2725C>T	c.(2725-2727)Cct>Tct	p.P909S	IFT122_ENST00000348417.2_Missense_Mutation_p.P858S|IFT122_ENST00000347300.2_Missense_Mutation_p.P799S|IFT122_ENST00000440957.2_Missense_Mutation_p.P649S|IFT122_ENST00000431818.2_Missense_Mutation_p.P708S|IFT122_ENST00000349441.2_Missense_Mutation_p.P747S|IFT122_ENST00000504021.1_Missense_Mutation_p.P734S|IFT122_ENST00000507564.1_Missense_Mutation_p.P850S	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	858					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGAGAAGCATCCTGAGTTTAA	0.502000													46	59					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9537777	9537777	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:9537777C>T	ENST00000396602.2	+	14	1673	c.1554C>T	c.(1552-1554)gcC>gcT	p.A518A	ZNF143_ENST00000396604.1_Silent_p.A517A|ZNF143_ENST00000396597.3_Silent_p.A487A|ZNF143_ENST00000299606.2_Silent_p.A490A|ZNF143_ENST00000530463.1_Silent_p.A517A	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	518					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACATGCAGGCCATTGGCAACA	0.478000													49	70					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74880715	74880715	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:74880715C>T	ENST00000289575.5	+	6	1082	c.687C>T	c.(685-687)atC>atT	p.I229I	SLCO2B1_ENST00000525650.1_Silent_p.I85I|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000428359.2_Silent_p.I207I|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000532236.1_Silent_p.I113I|SLCO2B1_ENST00000526660.1_Intron	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	229					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TTGTAGGGATCCTGTTTGCAG	0.567000													64	64					0	0	1	0	0
SLC25A31	83447	broad.mit.edu	37	4	128665863	128665863	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:128665863T>G	ENST00000281154.4	+	2	437	c.269T>G	c.(268-270)gTt>gGt	p.V90G		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	90					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TTGGCAAATGTTATTCGGTAT	0.313000													55	49					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151265399	151265399	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:151265399C>T	ENST00000368875.2	-	13	2996	c.2416G>A	c.(2416-2418)Gat>Aat	p.D806N	PI4KB_ENST00000368874.4_Missense_Mutation_p.D779N|PI4KB_ENST00000529142.1_Missense_Mutation_p.D462N|PI4KB_ENST00000271657.5_Missense_Mutation_p.D806N|PI4KB_ENST00000368873.1_Missense_Mutation_p.D794N|PI4KB_ENST00000368872.1_Missense_Mutation_p.D779N	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	794					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.D806N(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATACTGCCATCCACCATCTGC	0.562000													60	38					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56334926	56334926	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:56334926C>T	ENST00000370754.5	-	96	22382	c.22383_splice	c.e96+1	p.E7461_splice	DST_ENST00000370788.2_Splice_Site_p.E5086_splice|DST_ENST00000361203.3_Splice_Site_p.E7172_splice|DST_ENST00000370769.4_Splice_Site_p.E7283_splice|DST_ENST00000421834.2_Splice_Site_p.E5168_splice|DST_ENST00000244364.6_Splice_Site_p.E4869_splice|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Splice_Site_p.E6957_splice			Q03001	DYST_HUMAN	dystonin	7281					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAATGAGTACCTCATCTTCGA	0.368000													15	36					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155504079	155504079	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:155504079G>A	ENST00000401878.3	+	8	1329	c.1131G>A	c.(1129-1131)gtG>gtA	p.V377V	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	377	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGCCACCCGTGACTCCACAGC	0.567000													24	49					0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691231	153691231	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:153691231G>A	ENST00000304337.2	-	2	1746	c.926C>T	c.(925-927)tCa>tTa	p.S309L		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	309	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AGATAAACATGATGGAAAGAA	0.343000													38	52					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754579	167754579	+	Silent	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:167754579T>C	ENST00000239587.5	+	3	1279	c.1191T>C	c.(1189-1191)tgT>tgC	p.C397C		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	397	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCTTGGATTGTTCAACAGATG	0.398000													84	10					0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182869175	182869175	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:182869175C>T	ENST00000367547.3	-	10	2141	c.1905G>A	c.(1903-1905)atG>atA	p.M635I	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.M516I	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	707										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TATTATTATTCATTTCCAGAT	0.318000													16	31					0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41558049	41558049	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:41558049C>T	ENST00000373060.1	+	12	1856	c.1398C>T	c.(1396-1398)gtC>gtT	p.V466V	FOXP4_ENST00000373057.3_Silent_p.V464V|FOXP4_ENST00000307972.4_Silent_p.V466V|FOXP4_ENST00000409208.1_Silent_p.V454V|FOXP4_ENST00000373063.3_Silent_p.V453V	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	466					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACGCCGACGTCCGGCCCCCCT	0.632000													143	111					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505705	159505705	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:159505705G>A	ENST00000334857.2	-	1	137	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGACAGTTAGGAAAACCACAA	0.378000													115	63					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31320101	31320101	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:31320101G>A	ENST00000269197.5	+	11	2733	c.2733G>A	c.(2731-2733)gtG>gtA	p.V911V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	911					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTCATCAGTGGATAAGGCTC	0.398000													14	40					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31294114	31294114	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:31294114C>T	ENST00000265071.2	+	3	539	c.274C>T	c.(274-276)Ctt>Ttt	p.L92F	CDH6_ENST00000514738.1_Missense_Mutation_p.L37F	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	92	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.L92V(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TAAATATATCCTTTCAGGAGA	0.383000													32	34					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049657	107049657	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:107049657A>G	ENST00000409886.3	-	16	2377	c.2290T>C	c.(2290-2292)Tat>Cat	p.Y764H	RGPD3_ENST00000304514.7_Missense_Mutation_p.Y764H	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	764					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCATTTTTATAGAGAGGACCT	0.373000													136	262					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127833	152127833	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:152127833G>A	ENST00000316073.3	-	3	1806	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	581	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AATATAGTGGGAACTCTGGCC	0.463000													194	476					0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3117383	3117383	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:3117383C>T	ENST00000525643.2	+	3	353	c.21C>T	c.(19-21)ctC>ctT	p.L7L	IL32_ENST00000528163.2_Silent_p.L7L|IL32_ENST00000551513.1_Silent_p.L7L|IL32_ENST00000530890.1_Silent_p.L7L|IL32_ENST00000396887.3_Silent_p.L7L|IL32_ENST00000548476.1_Silent_p.L7L|IL32_ENST00000526464.2_Silent_p.L7L|IL32_ENST00000529699.1_Silent_p.L7L|IL32_ENST00000531965.1_5'UTR|IL32_ENST00000444393.3_Silent_p.L7L|IL32_ENST00000008180.9_Silent_p.L7L|IL32_ENST00000548246.1_Silent_p.L7L|IL32_ENST00000552356.1_Silent_p.L7L|IL32_ENST00000382213.3_Silent_p.L7L|IL32_ENST00000549213.1_Silent_p.L7L|IL32_ENST00000552664.1_Silent_p.L7L|IL32_ENST00000534507.1_Silent_p.L7L|IL32_ENST00000530538.2_Silent_p.L7L|IL32_ENST00000529550.1_Silent_p.L7L|IL32_ENST00000325568.5_Silent_p.L7L|IL32_ENST00000551122.1_Silent_p.L7L|IL32_ENST00000396890.2_Silent_p.L7L|IL32_ENST00000552936.1_Intron|IL32_ENST00000533097.2_Silent_p.L7L|IL32_ENST00000548652.1_Silent_p.L7L|IL32_ENST00000440815.3_Silent_p.L7L			P24001	IL32_HUMAN	interleukin 32	7					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CGCAGGTCCTCTCTGATGACA	0.512000													51	48					0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132240374	132240374	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:132240374G>A	ENST00000321253.6	+	5	1413	c.1306G>A	c.(1306-1308)Ggc>Agc	p.G436S		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	436					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G436S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TGAAGAGGTGGGCGTGGATTC	0.602000													96	126					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68423887	68423887	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:68423887G>A	ENST00000297770.4	-	4	536	c.321C>T	c.(319-321)gtC>gtT	p.V107V	CPA6_ENST00000518549.1_Silent_p.V107V|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	107					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTTCTATGAGGACCCTGAATT	0.378000													129	71					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21065005	21065005	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:21065005C>T	ENST00000255882.6	-	52	6151	c.6065G>A	c.(6064-6066)cGa>cAa	p.R2022Q	PI4KA_ENST00000414196.3_Missense_Mutation_p.R774Q|PI4KA_ENST00000572273.1_Missense_Mutation_p.R1964Q	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1964					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CAGGTAGCCTCGGACACACAT	0.597000													25	147					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36927266	36927266	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:36927266T>A	ENST00000310758.4	-	18	2260	c.1613A>T	c.(1612-1614)gAg>gTg	p.E538V	ELMO1_ENST00000341056.3_Missense_Mutation_p.E240V|ELMO1_ENST00000396045.3_Missense_Mutation_p.E58V|ELMO1_ENST00000396040.2_Missense_Mutation_p.E58V|ELMO1_ENST00000442504.1_Missense_Mutation_p.E538V|ELMO1_ENST00000448602.1_Missense_Mutation_p.E538V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	538					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTGAATCTTCTCCTTTAGTTC	0.507000													20	60					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364316	5364316	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:5364316G>A	ENST00000300773.2	-	1	493	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCTCATCAGAACTCCCAGC	0.453000													44	53					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543645	28543645	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:28543645G>A	ENST00000452236.2	-	3	1454	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	279					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTGTACAAGGATAACATCAA	0.378000													56	168					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141750558	141750558	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:141750558A>T	ENST00000475668.2	+	24	2753	c.2699A>T	c.(2698-2700)aAt>aTt	p.N900I	MGAM_ENST00000549489.2_Missense_Mutation_p.N900I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	900	Maltase.				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)	TTAGCATTTAATGAGATTAAA	0.378000													16	36					0	0	1	0	0
P2RX6	9127	broad.mit.edu	37	22	21377654	21377654	+	Silent	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:21377654T>C	ENST00000413302.2	+	7	877	c.729T>C	c.(727-729)atT>atC	p.I243I	P2RX6_ENST00000443995.3_Silent_p.I190I|P2RX6_ENST00000336296.2_Silent_p.I233I|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000401443.1_Silent_p.I217I			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	243					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										TGTTCCGCATTGGGGACCTCG	0.612000													39	46					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131641406	131641406	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:131641406T>C	ENST00000368648.3	-	12	1234	c.1162A>G	c.(1162-1164)Aac>Gac	p.N388D	EBF3_ENST00000355311.5_Missense_Mutation_p.N397D	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	397					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCTACCTGGTTGTTGTGAGGC	0.612000													15	38					0	0	1	0	0
TRAPPC4	51399	broad.mit.edu	37	11	118889681	118889681	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:118889681G>A	ENST00000533632.1	+	1	539		c.e1+1		TRAPPC4_ENST00000359005.4_Splice_Site|TRAPPC4_ENST00000525303.1_Splice_Site|TRAPPC4_ENST00000528230.1_Splice_Site|TRAPPC4_ENST00000533058.1_Splice_Site|TRAPPC4_ENST00000434101.2_Splice_Site|MIR3656_ENST00000577421.1_RNA	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGCATCCGAGGTGGGCTAGGC	0.627000													5	52					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53587068	53587068	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:53587068G>A	ENST00000267082.5	-	12	1813	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	ITGB7_ENST00000550743.2_Intron|ITGB7_ENST00000338737.4_Intron|ITGB7_ENST00000422257.3_Missense_Mutation_p.R528W	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	528	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGGGAGCCCGGCACCCAGAT	0.632000													21	13					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120998780	120998780	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:120998780G>A	ENST00000273666.6	+	19	2358	c.2087G>A	c.(2086-2088)cGa>cAa	p.R696Q	STXBP5L_ENST00000471454.1_Missense_Mutation_p.R696Q|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R696Q|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R696Q|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R696Q	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	696					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CGGTCTCCTCGAAAAAACAAA	0.378000													25	34					0	0	1	0	0
LINC00842	643650	broad.mit.edu	37	10	47133321	47133321	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:47133321C>T	ENST00000422732.2	-	0	435					NR_033957.1																						TCCTGCTAAGCTTTGTTTCCT	0.493000													12	36					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786528	121786528	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:121786528G>A	ENST00000261367.7	+	12	3555	c.2127G>A	c.(2125-2127)ctG>ctA	p.L709L	SNCAIP_ENST00000379538.3_Silent_p.L296L|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Silent_p.L709L|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.L264L|SNCAIP_ENST00000261368.8_Silent_p.L662L|SNCAIP_ENST00000542191.1_Silent_p.L220L|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379536.2_Silent_p.L602L			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	662					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGAGGGAACTGAAGTTAGCCA	0.498000													17	36					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27335337	27335337	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:27335337G>A	ENST00000376087.4	-	18	2095	c.1930C>T	c.(1930-1932)Ctg>Ttg	p.L644L	ANKRD26_ENST00000436985.2_Silent_p.L660L|ANKRD26_ENST00000376070.3_Silent_p.L201L	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	643						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ACTTGTAGCAGGCCACCAGTT	0.388000													27	42					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612572	20612572	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:20612572G>A	ENST00000333629.1	+	1	678	c.678G>A	c.(676-678)agG>agA	p.R226R		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GTCGTATAAGGGAGCACTCCT	0.483000													46	53					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7324378	7324378	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:7324378G>A	ENST00000318881.6	+	2	491	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	SYT9_ENST00000396716.2_Missense_Mutation_p.R53Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	85						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGGCGAGAACGAGGCCTGCCC	0.547000													61	60					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143378	56143378	+	Silent	SNP	C	C	T	rs80298942		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:56143378C>T	ENST00000302270.1	+	1	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					ATGTTATATCCTTTGATGCAT	0.403000													76	86					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85051268	85051268	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:85051268G>A	ENST00000335459.5	-	5	1201	c.996C>T	c.(994-996)gtC>gtT	p.V332V	TRABD2A_ENST00000409520.2_Silent_p.V381V|TRABD2A_ENST00000479944.1_5'UTR	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		CCAGGGTAGGGACTTTTGGAG	0.582000													18	13					0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	20781484	20781484	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:20781484C>T	ENST00000274695.4	+	8	793	c.626C>T	c.(625-627)tCc>tTc	p.S209F	CDKAL1_ENST00000378610.1_Missense_Mutation_p.S209F|RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378624.4_Missense_Mutation_p.S139F	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	209					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GAAATCATTTCCATCAATACC	0.383000													62	19					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143422	55143422	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:55143422G>A	ENST00000396331.1	+	6	752	c.395G>A	c.(394-396)aGc>aAc	p.S132N	LILRB1_ENST00000418536.2_Missense_Mutation_p.S132N|LILRB1_ENST00000434867.2_Missense_Mutation_p.S132N|LILRB1_ENST00000324602.7_Missense_Mutation_p.S132N|LILRB1_ENST00000396317.1_Missense_Mutation_p.S132N|LILRB1_ENST00000427581.2_Missense_Mutation_p.S168N|LILRB1_ENST00000396327.3_Missense_Mutation_p.S132N|LILRB1_ENST00000396315.1_Missense_Mutation_p.S132N|LILRB1_ENST00000396332.4_Missense_Mutation_p.S132N|LILRB1_ENST00000448689.1_Missense_Mutation_p.S132N|LILRB1_ENST00000396321.2_Missense_Mutation_p.S132N	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	132	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCCCAGCCCAGCCCCGTGGTG	0.562000										HNSCC(37;0.09)			53	66					0	0	1	0	0
DEFB118	117285	broad.mit.edu	37	20	29960770	29960770	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:29960770C>T	ENST00000253381.2	+	2	202	c.169C>T	c.(169-171)Cca>Tca	p.P57S		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	57					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTGCTGCATTCCATCCAATGA	0.433000													75	55					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447722	63447722	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:63447722G>A	ENST00000322893.7	-	6	1078	c.810C>T	c.(808-810)ttC>ttT	p.F270F	KCNH5_ENST00000394964.2_Silent_p.F212F|KCNH5_ENST00000394968.1_Silent_p.F212F|KCNH5_ENST00000420622.2_Silent_p.F270F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	270					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGGGCCCCACGAAAGTCGTGT	0.433000													22	14					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19393350	19393350	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:19393350T>C	ENST00000263208.5	-	5	612	c.356A>G	c.(355-357)gAg>gGg	p.E119G	HIRA_ENST00000541063.1_Missense_Mutation_p.E75G|HIRA_ENST00000546308.1_Missense_Mutation_p.E75G|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000340170.4_Missense_Mutation_p.E119G	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	119					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCGCCACTGCTCCACATTGGC	0.602000													58	59					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143197	56143197	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:56143197C>T	ENST00000302270.1	+	1	98	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CTATTCTTATCCATCTACCTC	0.453000													67	77					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28595036	28595036	+	Splice_Site	SNP	G	G	A	rs144474985		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:28595036G>A	ENST00000220562.4	+	5	3179	c.2276_splice	c.e5-1	p.R759_splice	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Splice_Site_p.R375_splice	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	759						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GTTTTTCAAGGGTGTGGAGAG	0.527000													67	84					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56355339	56355339	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:56355339C>T	ENST00000340482.3	-	6	1325	c.1149G>A	c.(1147-1149)agG>agA	p.R383R	MPO_ENST00000225275.3_Silent_p.R351R|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	351					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGCGCAGGTTCCTGGCCAGGG	0.637000													66	27					0	0	1	0	0
IGHV2-70	28454	broad.mit.edu	37	14	107179109	107179109	+	RNA	SNP	A	A	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:107179109A>C	ENST00000390634.2	-	0	143																											AGACTCCCTCAAGGTGACCTG	0.507000													15	21					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809222	31809222	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:31809222C>G	ENST00000446923.2	+	7	1302	c.911C>G	c.(910-912)cCa>cGa	p.P304R	ZEB1_ENST00000320985.10_Missense_Mutation_p.P320R|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.P321R|ZEB1_ENST00000542815.3_Missense_Mutation_p.P253R|ZEB1_ENST00000560721.2_Missense_Mutation_p.P300R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	320					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TCAGCATCACCAGGCAGTCCC	0.423000													27	38					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394087	154394087	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:154394087G>A	ENST00000435029.4	+	1	828	c.668G>A	c.(667-669)aGa>aAa	p.R223K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	223	Kinesin-motor.			R -> G (in Ref. 1; AF241316).	axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATAGAGCAAAGAAAGAAAAGT	0.478000													15	18					0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68424576	68424576	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:68424576G>A	ENST00000265404.2	+	1	131	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	STAP1_ENST00000396225.1_Missense_Mutation_p.E17K	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	17					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GATCTTCCAGGAAAGGTTAAA	0.423000													37	68					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48151297	48151297	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:48151297C>T	ENST00000320031.8	+	8	1504	c.1174C>T	c.(1174-1176)Ccg>Tcg	p.P392S	ITGA3_ENST00000007722.7_Missense_Mutation_p.P392S|ITGA3_ENST00000544892.1_Missense_Mutation_p.P167S	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	392					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGTGGGAGCTCCGTTTGAAGG	0.557000													25	77					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77844493	77844493	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:77844493G>A	ENST00000407578.2	-	6	1392	c.1126C>T	c.(1126-1128)Ctt>Ttt	p.L376F	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L338F|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L338F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AATAGATAAAGAAAAAATCCA	0.333000													16	22					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36484264	36484264	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:36484264C>T	ENST00000342292.4	-	11	5208	c.5188G>A	c.(5188-5190)Gat>Aat	p.D1730N	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1730						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGCCTGTATCATTTGGAGAT	0.562000													34	34					0	0	1	0	0
UBE2E3	10477	broad.mit.edu	37	2	181922535	181922535	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:181922535C>T	ENST00000410062.4	+	4	754	c.361C>T	c.(361-363)Cca>Tca	p.P121S	UBE2E3_ENST00000392415.2_Missense_Mutation_p.P121S|UBE2E3_ENST00000602959.1_Missense_Mutation_p.P121S|UBE2E3_ENST00000602710.1_Missense_Mutation_p.P121S|UBE2E3_ENST00000602837.1_3'UTR	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	121					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						ATCAGATTATCCATTTAAGCC	0.343000													49	42					0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60892552	60892552	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:60892552A>G	ENST00000347785.3	+	9	1494	c.1328A>G	c.(1327-1329)aAc>aGc	p.N443S		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	443					cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CATGCTGAGAACCCCACAGCC	0.587000													33	58					0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17962301	17962301	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:17962301C>T	ENST00000381254.2	+	14	2036	c.1822C>T	c.(1822-1824)Cat>Tat	p.H608Y	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.H608Y	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	608					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACTTTTTCTCATGATTTAAA	0.378000								Homologous recombination					20	57					0	0	1	0	0
NCR2	9436	broad.mit.edu	37	6	41318505	41318505	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:41318505C>T	ENST00000373089.5	+	5	822	c.734C>T	c.(733-735)cCc>cTc	p.P245L	NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	245					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					acggaccttccctggacctca	0.468000													35	19					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283500	40283500	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:40283500C>T	ENST00000325157.6	-	2	503	c.253G>A	c.(253-255)Gga>Aga	p.G85R		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	85	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TTCTTTGATCCATTCTTGATG	0.403000													63	91					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57756640	57756640	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:57756640C>T	ENST00000371236.2	-	2	326	c.63G>A	c.(61-63)aaG>aaA	p.K21K	DAB1_ENST00000371231.1_Silent_p.K21K|DAB1_ENST00000414851.2_Silent_p.K21K|DAB1_ENST00000371230.1_Silent_p.K21K|DAB1_ENST00000420954.2_Silent_p.K21K|DAB1_ENST00000439789.2_Silent_p.K21K|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.K21K			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	21					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CCCTACCTTTCTTTCTGGAGT	0.388000													23	36					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3151782	3151782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:3151782G>A	ENST00000400569.3	-	12	2086	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	MYOM1_ENST00000261606.7_Nonsense_Mutation_p.R585*|MYOM1_ENST00000356443.4_Nonsense_Mutation_p.R585*			P52179	MYOM1_HUMAN	myomesin 1	585	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTCACAGCTCGAACTCGGAAG	0.488000											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	46					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6061576	6061576	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:6061576T>G	ENST00000261405.5	-	49	8350	c.8096A>C	c.(8095-8097)cAc>cCc	p.H2699P		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2699					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGACACTTGTGTTCATCAAA	0.488000													43	65					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3779053	3779053	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:3779053C>T	ENST00000310132.6	-	12	1532	c.1134G>A	c.(1132-1134)cgG>cgA	p.R378R	MATK_ENST00000585778.1_Silent_p.R378R|MATK_ENST00000395045.2_Silent_p.R379R|MATK_ENST00000395040.2_Silent_p.R337R	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	378	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAGCCCCTTCCGCTCGGCTT	0.657000													18	14					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108172897	108172897	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:108172897C>T	ENST00000273353.3	-	22	2471	c.2415G>A	c.(2413-2415)caG>caA	p.Q805Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	805	IQ.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCAGTTTGCCCTGTGCTCTGG	0.448000													23	29					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423017	26423017	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:26423017G>A	ENST00000335473.7	+	43	7327	c.7077G>A	c.(7075-7077)ccG>ccA	p.P2359P	MYO18B_ENST00000407587.2_Silent_p.P2360P|MYO18B_ENST00000536101.1_Silent_p.P2359P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2359						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AATCCAGACCGAGCATGGGGA	0.567000													71	91					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109117301	109117301	+	Splice_Site	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:109117301T>C	ENST00000261483.4	+	9	2629		c.e9+2			NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1						mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TCATTTAAGGTACTTTTACCT	0.308000													14	20					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403676	47403676	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:47403676C>T	ENST00000310638.4	-	2	360	c.329G>A	c.(328-330)gGg>gAg	p.G110E	CYP4A11_ENST00000371905.1_Missense_Mutation_p.G110E|CYP4A11_ENST00000371904.4_Missense_Mutation_p.G110E|CYP4A11_ENST00000457840.2_Missense_Mutation_p.G6E|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	110					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	ACCTGATCTCCCCAGAATCAC	0.502000													62	83					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167379611	167379611	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:167379611G>A	ENST00000519204.1	+	3	486	c.368G>A	c.(367-369)aGc>aAc	p.S123N	TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000403607.2_Missense_Mutation_p.S77N|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000518659.1_Missense_Mutation_p.S244N|TENM2_ENST00000520394.1_Missense_Mutation_p.S53N|TENM2_ENST00000545108.1_Missense_Mutation_p.S244N					teneurin transmembrane protein 2																		AACCACCACAGCCAGTCGACT	0.547000													11	12					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886577	228886577	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:228886577C>T	ENST00000392056.3	-	6	593	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E183K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	183						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGCACCAGTTCCAGACCAATC	0.453000													50	100					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115147608	115147608	+	Silent	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:115147608A>G	ENST00000393274.1	-	11	2227	c.1602T>C	c.(1600-1602)ctT>ctC	p.L534L	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Silent_p.L534L|DENND2C_ENST00000393276.3_Silent_p.L477L	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	534	UDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATAACTTTAAGTCTCTCTT	0.348000													19	45					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849235	54849235	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:54849235G>A	ENST00000291759.4	-	4	683	c.627C>T	c.(625-627)ccC>ccT	p.P209P		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	209	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGGGGTCACTGGGTTCCGACC	0.572000													26	39					0	0	1	0	0
E2F5	1875	broad.mit.edu	37	8	86121546	86121546	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:86121546C>T	ENST00000418930.2	+	6	981	c.785C>T	c.(784-786)cCa>cTa	p.P262L	E2F5_ENST00000521429.1_Missense_Mutation_p.P89L|E2F5_ENST00000256117.5_Missense_Mutation_p.P263L|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000517476.1_Missense_Mutation_p.P101L|E2F5_ENST00000416274.2_Missense_Mutation_p.P262L			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	262					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						CCAGTGACTCCACAGAAATCC	0.483000													83	30					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4550874	4550874	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:4550874C>T	ENST00000586582.1	-	11	1368	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	SEMA6B_ENST00000586965.1_Missense_Mutation_p.R353Q|SEMA6B_ENST00000301293.3_Missense_Mutation_p.R353Q	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	353	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTGCTCTCGGAAGCGGCC	0.622000													39	66					0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116862971	116862971	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:116862971C>T	ENST00000265437.5	+	16	1909	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F	ST7_ENST00000393447.4_Intron|ST7_ENST00000393443.1_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000393449.1_Intron|ST7_ENST00000393446.2_Intron|ST7_ENST00000323984.3_Intron|ST7_ENST00000393444.3_Intron|ST7_ENST00000422922.1_Intron|ST7_ENST00000432298.1_Intron	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	565						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AGAGTATTTTCATGCGTGTTG	0.453000													152	101					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839420	62839420	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:62839420G>A	ENST00000536311.1	+	7	1235	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.E291K			Q01538	MYT1_HUMAN	myelin transcription factor 1	291	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ggaggaggaggaagaggaaga	0.562000													14	8					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21031019	21031019	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:21031019G>A	ENST00000261383.3	-	41	5948	c.5949C>T	c.(5947-5949)atC>atT	p.I1983I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1983					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCATGCCCATGATCAGGTTGC	0.453000													21	39					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82408894	82408894	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:82408894G>A	ENST00000370728.1	+	8	1284	c.639G>A	c.(637-639)gtG>gtA	p.V213V	LPHN2_ENST00000370717.2_Silent_p.V213V|LPHN2_ENST00000370713.1_Silent_p.V213V|LPHN2_ENST00000271029.4_Silent_p.V213V|LPHN2_ENST00000370715.1_Silent_p.V213V|LPHN2_ENST00000370721.1_Silent_p.V217V|LPHN2_ENST00000370723.1_Silent_p.V213V|LPHN2_ENST00000394879.1_Silent_p.V213V|LPHN2_ENST00000335786.5_Silent_p.V213V|LPHN2_ENST00000370725.1_Silent_p.V213V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Silent_p.V213V|LPHN2_ENST00000370727.1_Silent_p.V213V|LPHN2_ENST00000359929.3_Silent_p.V213V|LPHN2_ENST00000370730.1_Silent_p.V213V			O95490	LPHN2_HUMAN	latrophilin 2	213	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTGGATTTGTGGTGTATGATG	0.353000													26	35					0	0	1	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513070	89513070	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:89513070C>T	ENST00000498435.1	-	0	219																											TAGGAACTTTCCCTGGTTTCT	0.512000													103	65					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38869186	38869186	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:38869186A>G	ENST00000274276.3	+	2	442	c.40A>G	c.(40-42)Aca>Gca	p.T14A	OSMR_ENST00000502536.1_Missense_Mutation_p.T14A	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	14					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATTCTTCTTAACATTGCTGTC	0.338000													56	65					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45820199	45820199	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:45820199G>A	ENST00000397928.1	+	15	2711	c.2266G>A	c.(2266-2268)Gtg>Atg	p.V756M	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.V756M|TRPM2_ENST00000300481.9_Missense_Mutation_p.V736M|TRPM2_ENST00000300482.5_Missense_Mutation_p.V756M	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	756						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTGTGGCGTGTGACCCTGTG	0.682000													47	86					0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38816301	38816301	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:38816301C>T	ENST00000476049.1	-	3	425	c.384G>A	c.(382-384)acG>acA	p.T128T	KRT222_ENST00000394052.3_Silent_p.T128T			Q8N1A0	KT222_HUMAN	keratin 222	128						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						GCCTCATCTTCGTGTTGAGAA	0.438000													43	53					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42783484	42783484	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:42783484C>T	ENST00000379274.2	+	23	2754	c.2325C>T	c.(2323-2325)atC>atT	p.I775I	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.4_Silent_p.I911I|DGKH_ENST00000540693.1_Silent_p.I911I|DGKH_ENST00000538674.1_Silent_p.I666I|DGKH_ENST00000536612.1_Silent_p.I775I|DGKH_ENST00000337343.4_Silent_p.I911I			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	911					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CAGTGAAAATCACTATATTTG	0.393000													39	62					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52951768	52951768	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:52951768G>A	ENST00000349258.4	-	4	2722	c.2178C>T	c.(2176-2178)tcC>tcT	p.S726S	THSD1_ENST00000544466.1_Silent_p.S400S|THSD1_ENST00000258613.4_Silent_p.S779S	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	779						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TATCTTTGGGGGATATGGGAG	0.522000													69	124					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833673	61833673	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:61833673C>T	ENST00000280772.1	-	37	7157	c.6966G>A	c.(6964-6966)atG>atA	p.M2322I	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2322					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTTGGGTTTCATTTGGTTGT	0.448000													33	62					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068223	9068223	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9068223C>T	ENST00000397910.4	-	3	19426	c.19223G>A	c.(19222-19224)aGa>aAa	p.R6408K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6410	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGATGTTCTGCTAGAGGA	0.483000													55	65					0	0	1	0	0
UGT1A6	54578	broad.mit.edu	37	2	234602163	234602163	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:234602163C>T	ENST00000305139.6	+	1	652	c.513C>T	c.(511-513)ttC>ttT	p.F171F	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TGTACCTCTTCAGGGGTTTTC	0.498000													104	203					0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18192978	18192978	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:18192978C>T	ENST00000600835.1	-	4	524	c.221G>A	c.(220-222)aGc>aAc	p.S74N	IL12RB1_ENST00000430026.2_Missense_Mutation_p.S74N|IL12RB1_ENST00000322153.6_Missense_Mutation_p.S74N|IL12RB1_ENST00000593993.1_Missense_Mutation_p.S74N			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	74	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CAGGAAGTGGCTGACCCCAGC	0.607000													17	18					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45225993	45225993	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:45225993C>T	ENST00000372217.1	+	14	1598	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.S357F|KIF2C_ENST00000372224.4_Missense_Mutation_p.S470F|KIF2C_ENST00000372218.4_Missense_Mutation_p.S429F			Q99661	KIF2C_HUMAN	kinesin family member 2C	470	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TCCTCCCGCTCCCACGCGTGC	0.527000													23	37					0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102586045	102586045	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:102586045G>A	ENST00000236826.3	-	7	1124	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	342	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		CTTTAAATAGGAAAATGAGGT	0.413000													11	18					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85654607	85654607	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:85654607C>T	ENST00000322366.6	-	44	7556	c.7149G>A	c.(7147-7149)aaG>aaA	p.K2383K	WDFY3_ENST00000295888.4_Silent_p.K2383K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2383						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCGCACCATCTTTTTCCTCA	0.512000													91	122					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92978050	92978050	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:92978050C>T	ENST00000544910.1	+	25	2365	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	CCDC132_ENST00000305866.5_Silent_p.F745F|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000535481.1_Silent_p.F465F|CCDC132_ENST00000541136.1_Silent_p.F556F	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	745										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTTTGAGTTCCTTCAGCCAC	0.413000													38	110					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101510519	101510519	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:101510519G>A	ENST00000392979.3	+	24	2769	c.2408G>A	c.(2407-2409)cGa>cAa	p.R803Q	ANO4_ENST00000550015.1_Missense_Mutation_p.R358Q|ANO4_ENST00000299222.9_Missense_Mutation_p.R358Q|ANO4_ENST00000392977.3_Missense_Mutation_p.R838Q	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	838						chloride channel complex	chloride channel activity	p.R803Q(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTTGAGAACCGATCTGAGCCT	0.507000										HNSCC(74;0.22)			82	104					0	0	1	0	0
PLEK2	26499	broad.mit.edu	37	14	67859909	67859909	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:67859909G>A	ENST00000216446.4	-	4	579	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	147	DEP.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		TCCATGTTGGGGCTTGAACGG	0.582000													89	118					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35140024	35140024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:35140024C>T	ENST00000381318.3	+	11	1222	c.934C>T	c.(934-936)Cga>Tga	p.R312*	ITSN1_ENST00000381285.4_Nonsense_Mutation_p.R312*|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.R312*|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.R312*|ITSN1_ENST00000399353.1_Nonsense_Mutation_p.R275*|ITSN1_ENST00000399338.4_Nonsense_Mutation_p.R312*|ITSN1_ENST00000399326.3_Nonsense_Mutation_p.R312*|ITSN1_ENST00000379960.5_Nonsense_Mutation_p.R312*|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.R312*|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Nonsense_Mutation_p.R312*|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.R312*|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000437442.2_Nonsense_Mutation_p.R312*	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	312					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.R312*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGAAGAGTTCGATCTGGCAG	0.388000													29	32					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8020268	8020268	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:8020268C>T	ENST00000380149.1	-	2	676	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ALOXE3_ENST00000448843.2_Missense_Mutation_p.E60K|ALOXE3_ENST00000318227.3_Missense_Mutation_p.E192K			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	60	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TCACCCAGCTCCGCTGTGCAA	0.587000													10	2					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89420557	89420557	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:89420557G>A	ENST00000532352.1	+	0	1372							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATCTCTTTATGAAAGTTGGAC	0.343000													30	23					0	0	1	0	0
OPTN	10133	broad.mit.edu	37	10	13151269	13151269	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:13151269C>T	ENST00000378748.3	+	4	509	c.147C>T	c.(145-147)acC>acT	p.T49T	OPTN_ENST00000263036.5_Silent_p.T49T|OPTN_ENST00000378747.3_Silent_p.T49T|OPTN_ENST00000378757.2_Silent_p.T49T|OPTN_ENST00000482140.1_3'UTR|OPTN_ENST00000378764.2_Silent_p.T49T|OPTN_ENST00000378752.3_Silent_p.T49T	NM_001008211.1|NM_001008213.1	NP_001008212.1|NP_001008214.1	Q96CV9	OPTN_HUMAN	optineurin	49					cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGCTCCTGACCGAGAACCACC	0.592000													35	39					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963553	39963553	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:39963553C>T	ENST00000599117.1	+	23	2506	c.2139C>T	c.(2137-2139)tcC>tcT	p.S713S	SUPT5H_ENST00000359191.6_Silent_p.S709S|SUPT5H_ENST00000598725.1_Silent_p.S713S|SUPT5H_ENST00000432763.2_Silent_p.S713S|SUPT5H_ENST00000402194.2_Silent_p.S709S			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	713	KOW 5.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGCGCATCTCCCAGGGGCCCT	0.692000													24	40					0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14881916	14881916	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:14881916G>A	ENST00000378372.3	+	2	309	c.70G>A	c.(70-72)Ggt>Agt	p.G24S	HSPA14_ENST00000493863.1_3'UTR|HSPA14_ENST00000437161.2_Missense_Mutation_p.G24S	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	24					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TGGCCGGGCTGGTGTGGTTGC	0.448000													81	91					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130015639	130015639	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:130015639G>A	ENST00000422113.2	-	3	1406	c.1080C>T	c.(1078-1080)atC>atT	p.I360I		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	360						integral to membrane		p.I360I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCTGACAAACGATGACAGCTG	0.483000													31	18					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1716087	1716087	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:1716087C>T	ENST00000397412.3	+	15	2865	c.2766C>T	c.(2764-2766)ttC>ttT	p.F922F	CRAMP1L_ENST00000262317.4_Silent_p.F300F|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.F919F|CRAMP1L_ENST00000293925.5_Silent_p.F922F			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	922						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GAGGTTCGTTCCGGCCCATCC	0.632000													8	13					0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43602868	43602868	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:43602868G>A	ENST00000292246.3	-	9	1490	c.1320C>T	c.(1318-1320)tcC>tcT	p.S440S	ANO10_ENST00000350459.4_Silent_p.S250S|ANO10_ENST00000414522.2_Silent_p.S440S|ANO10_ENST00000396091.3_Silent_p.S374S|ANO10_ENST00000451430.2_Silent_p.S329S	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	440					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TGAGGATCTGGGAGGTAATTA	0.393000													26	20					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066500	73066500	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:73066500G>A	ENST00000429829.1	-	0	6088					NR_001564.2																						TGCTGGAAGGGAAAAGTGGGG	0.473000													24	3					0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103343399	103343399	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:103343399G>A	ENST00000258436.5	-	4	375	c.332C>T	c.(331-333)tCc>tTc	p.S111F		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	111					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TGCCAGCAAGGAAGACCGTCT	0.532000													40	89					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100085959	100085959	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:100085959C>T	ENST00000423930.1	+	4	774	c.615C>T	c.(613-615)gaC>gaT	p.D205D	NYAP1_ENST00000300179.2_Silent_p.D205D|NYAP1_ENST00000454988.1_Silent_p.D148D			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	205																	TAGCTGGGGACCCTGATGTGG	0.647000													60	34					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101593663	101593663	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:101593663G>A	ENST00000310954.6	-	7	1543	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	419					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GAGTAGCTGCGAAGCTGGATG	0.294000													30	22					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19647556	19647556	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:19647556C>T	ENST00000284885.3	-	24	2895	c.2862G>A	c.(2860-2862)atG>atA	p.M954I		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	954	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTGCACATATCATATTTTCAG	0.373000													59	85					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35094309	35094309	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:35094309G>A	ENST00000378617.3	-	3	953	c.559C>T	c.(559-561)Cct>Tct	p.P187S	PIGO_ENST00000341666.3_Missense_Mutation_p.P187S|PIGO_ENST00000361778.2_Missense_Mutation_p.P187S|PIGO_ENST00000298004.5_Missense_Mutation_p.P187S	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	187					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAAGCACCAGGGAAAAGGTCT	0.502000													20	32					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625437	154625437	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:154625437G>A	ENST00000260010.6	+	1	2786	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	460					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CAAGACACTGGAAATTTTAGA	0.358000													47	47					0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49898612	49898612	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:49898612C>T	ENST00000477224.1	-	6	1041		c.e6+1		CAMKV_ENST00000466940.1_Splice_Site|CAMKV_ENST00000463537.1_Splice_Site|CAMKV_ENST00000296471.7_Splice_Site|CAMKV_ENST00000467248.1_Splice_Site|CAMKV_ENST00000488336.1_Splice_Site			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated							cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCCCTGCTTGCCCAGATACTC	0.582000													13	14					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023011	76023011	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:76023011G>A	ENST00000393004.2	-	5	2758	c.2537C>T	c.(2536-2538)cCc>cTc	p.P846L	FILIP1_ENST00000370020.1_Missense_Mutation_p.P747L|FILIP1_ENST00000237172.7_Missense_Mutation_p.P846L|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	846										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTTTCCACGGGTTTCTTCAA	0.448000													91	4					0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96104250	96104250	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:96104250C>T	ENST00000343702.4	-	5	1597	c.1149G>A	c.(1147-1149)cgG>cgA	p.R383R	NTN4_ENST00000553059.1_Silent_p.R383R|NTN4_ENST00000344911.4_Silent_p.R346R|NTN4_ENST00000538383.1_Silent_p.R346R	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	383	Laminin EGF-like 2.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AGAAGGGTCTCCGCAGGTCAC	0.478000													12	20					0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9225792	9225792	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9225792G>A	ENST00000293614.1	-	1	647	c.648C>T	c.(646-648)ttC>ttT	p.F216F	OR7G1_ENST00000541538.1_Silent_p.F216F			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GAGAATAAGAGAAAATTATTC	0.413000													29	38					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39433451	39433451	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:39433451G>A	ENST00000280481.7	+	14	7459	c.7243G>A	c.(7243-7245)Gat>Aat	p.D2415N		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2415					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.D2415H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTCAGACTACGATAAAACAGG	0.498000													76	86					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230384	7230384	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:7230384C>T	ENST00000379938.2	+	10	2589	c.2052C>T	c.(2050-2052)gcC>gcT	p.A684A	RREB1_ENST00000349384.6_Silent_p.A684A|RREB1_ENST00000379933.3_Silent_p.A684A|RREB1_ENST00000334984.6_Silent_p.A684A	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	684					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCGACAAGGCCGCGCTCATCC	0.632000													22	52					0	0	1	0	0
GTF2B	2959	broad.mit.edu	37	1	89325691	89325691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:89325691G>A	ENST00000370500.5	-	5	527	c.409C>T	c.(409-411)Cga>Tga	p.R137*	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	137					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding	p.R137*(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		TTATTTGTTCGATCCTTCAAA	0.343000													29	64					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733976	28733976	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:28733976C>T	ENST00000550043.1	+	0	381																											CTCACAGACACCACAAGATAC	0.468000													60	66					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506763	37506763	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:37506763T>G	ENST00000374660.1	+	39	3512	c.3413T>G	c.(3412-3414)aTa>aGa	p.I1138R	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.I1019R|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1019R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1113						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCTCTCAGAATACAAGATATA	0.279000													16	25					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690337	33690337	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:33690337C>T	ENST00000394566.1	-	4	762	c.490G>A	c.(490-492)Gga>Aga	p.G164R	SLFN11_ENST00000308377.4_Missense_Mutation_p.G164R	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	164						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGAAAAGGTCCTTCTTCCAAG	0.443000													61	67					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41061770	41061770	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:41061770G>A	ENST00000399564.4	-	6	967	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTGGGGTAGGGAAAATCTCTC	0.448000													51	47					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85991788	85991788	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:85991788C>T	ENST00000372105.3	-	4	1788	c.1767G>A	c.(1765-1767)cgG>cgA	p.R589R		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	589						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TGACACTGTGCCGGGACAGCT	0.557000													13	23					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108311104	108311104	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:108311104G>A	ENST00000370056.4	-	7	950	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	VAV3_ENST00000527011.1_Silent_p.L226L|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Silent_p.L161L	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	226	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GCTGCTGTCAGAAATCTTTTT	0.299000													39	94					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8174147	8174147	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:8174147C>T	ENST00000600128.1	-	36	4996	c.4582G>A	c.(4582-4584)Ggc>Agc	p.G1528S	FBN3_ENST00000270509.2_Missense_Mutation_p.G1528S|FBN3_ENST00000601739.1_Missense_Mutation_p.G1528S			Q75N90	FBN3_HUMAN	fibrillin 3	1528	TB 6.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGGGATTGCCCCAAGCCCGG	0.642000													37	36					0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66257437	66257437	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:66257437G>A	ENST00000409699.2	-	9	1093	c.921C>T	c.(919-921)ttC>ttT	p.F307F	MEGF11_ENST00000395625.2_Silent_p.F232F|MEGF11_ENST00000288745.3_Silent_p.F232F|MEGF11_ENST00000360698.4_Silent_p.F307F|MEGF11_ENST00000422354.1_Silent_p.F307F|MEGF11_ENST00000395614.1_5'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	307						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CGAAGGACCCGAAGGGGCACT	0.627000													10	5					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147498583	147498583	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:147498583C>T	ENST00000359874.3	+	24	2348	c.2275C>T	c.(2275-2277)Cgc>Tgc	p.R759C	SPINK5_ENST00000398454.1_Missense_Mutation_p.R759C|SPINK5_ENST00000256084.7_Missense_Mutation_p.R759C	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	759					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGTATTCTCGCTCCAGATC	0.403000													34	47					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023694	18023694	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:18023694G>T	ENST00000361221.3	+	29	3818	c.3659G>T	c.(3658-3660)tGg>tTg	p.W1220L	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.W993L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.W1181L|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.W1181L|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.W923L	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1220					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCCGACATCTGGGTGCGCAGC	0.677000													3	19					1	1	1	1	0
ESPN	83715	broad.mit.edu	37	1	6488376	6488376	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:6488376G>A	ENST00000377828.1	+	2	553	c.385G>A	c.(385-387)Ggg>Agg	p.G129R		NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	129					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TCATGGCGGTGGGGACCCCAC	0.637000													55	58					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148844	103148844	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:103148844G>A	ENST00000295269.4	+	12	2551	c.2094G>A	c.(2092-2094)cgG>cgA	p.R698R		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	698					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CATGCTCTCGGATAGGGTCAC	0.448000													70	46					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657112	81657112	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:81657112C>T	ENST00000550584.2	-	30	3908	c.3613G>A	c.(3613-3615)Gaa>Aaa	p.E1205K	PPFIA2_ENST00000541017.1_Missense_Mutation_p.E391K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E1104K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E1205K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E741K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E1199K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E1100K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E1190K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E1052K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E1193K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E1184K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1104										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCATGTACTTCACGAGGAGGA	0.438000													19	32					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481738	140481738	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140481738C>T	ENST00000231130.2	+	1	1505	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCTCTTCCCTGGTCTCC	0.657000													85	100					0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986344	51986344	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:51986344C>T	ENST00000396477.4	+	4	768	c.747C>T	c.(745-747)tcC>tcT	p.S249S	CEACAM18_ENST00000451626.1_Silent_p.S310S	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	310						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGATCGGCTCCCAAGTGGAAA	0.517000													132	158					0	0	1	0	0
RBM24	221662	broad.mit.edu	37	6	17292073	17292073	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:17292073C>T	ENST00000379052.5	+	4	670	c.434C>T	c.(433-435)tCc>tTc	p.S145F	RBM24_ENST00000318204.5_Missense_Mutation_p.S100F|RBM24_ENST00000425446.2_Missense_Mutation_p.S87F|RBM24_ENST00000508508.1_3'UTR	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	145	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			GCTGCCGCCTCCACCACCCCT	0.577000													146	111					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344834	56344834	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:56344834G>A	ENST00000526812.2	-	1	429	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GCTACATAGCGATCCAATGCC	0.453000													49	52					0	0	1	0	0
MARC1	64757	broad.mit.edu	37	1	220970084	220970084	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:220970084C>T	ENST00000366910.5	+	3	735	c.549C>T	c.(547-549)ttC>ttT	p.F183F	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	183							molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										TGGTGCACTTCGAGCCTCACA	0.592000													14	42					0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15103830	15103830	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:15103830C>T	ENST00000378217.3	+	5	617	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	OLAH_ENST00000378228.3_Nonsense_Mutation_p.Q91*	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	91					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						GCCAGTCATCCAGGATAAACC	0.388000													58	90					0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	59002291	59002291	+	Missense_Mutation	SNP	A	A	C	rs138701208		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:59002291A>C	ENST00000371226.3	-	3	736	c.623T>G	c.(622-624)gTg>gGg	p.V208G	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.V208G|OMA1_ENST00000467063.1_5'UTR	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	208					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					AAAATAAAACACCACAAAGAG	0.368000													21	26					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058509	53058509	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:53058509C>T	ENST00000359798.4	+	5	2520	c.2340C>T	c.(2338-2340)taC>taT	p.Y780Y		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	780					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CCCTTGTATACCATCGTAGAC	0.428000													110	108					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39170393	39170393	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:39170393G>A	ENST00000301819.6	+	14	2067	c.1890G>A	c.(1888-1890)ctG>ctA	p.L630L	TTC21A_ENST00000440121.1_Silent_p.L581L|TTC21A_ENST00000431162.2_Silent_p.L629L	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	629							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TATTGGAACTGGTGGAGGCCC	0.567000													25	34					0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100730827	100730827	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:100730827C>T	ENST00000306085.6	+	3	531	c.234C>T	c.(232-234)ttC>ttT	p.F78F		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	78					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAACTTCTTCGTCAATGGGC	0.692000													52	123					0	0	1	0	0
C17orf78	284099	broad.mit.edu	37	17	35745681	35745681	+	Silent	SNP	C	C	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:35745681C>A	ENST00000300618.4	+	5	635	c.585C>A	c.(583-585)ctC>ctA	p.L195L	ACACA_ENST00000589665.1_Intron|ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	195						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				CCCTGTTGCTCAGTGGAGTTG	0.403000													11	21					3.86212e-05	3.87984e-05	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20803412	20803412	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:20803412G>A	ENST00000359062.3	+	14	2843	c.2803G>A	c.(2803-2805)Gaa>Aaa	p.E935K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	935	Catalytic (By similarity).				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)	TTGGACCAATGAAAATGATCG	0.318000													20	66					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51312530	51312530	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:51312530C>T	ENST00000266037.9	+	25	2592	c.2569C>T	c.(2569-2571)Cct>Tct	p.P857S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	857						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CATCCTGCTTCCTGTGGTTCT	0.493000													102	138					0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18534880	18534880	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:18534880C>T	ENST00000336714.3	+	18	2426	c.1992_splice	c.e18-1	p.T665_splice	SEC23B_ENST00000377475.3_Splice_Site_p.T665_splice|SEC23B_ENST00000262544.2_Splice_Site_p.T665_splice|SEC23B_ENST00000377465.1_Splice_Site_p.T665_splice	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	665					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	p.T665S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCTGTGTAGACCATAGCCCAG	0.468000													25	27					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871242	8871242	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:8871242G>A	ENST00000256707.3	-	30	5105	c.4924C>T	c.(4924-4926)Cgg>Tgg	p.R1642W	KIDINS220_ENST00000473731.1_Missense_Mutation_p.R1623W|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R1623W|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R1543W	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1642					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATGGACATCCGAGCTATAATT	0.493000													60	42					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805533	125805533	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:125805533C>T	ENST00000346248.5	-	2	838	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	CHST15_ENST00000421115.1_Missense_Mutation_p.E66K|CHST15_ENST00000435907.1_Missense_Mutation_p.E66K|CHST15_ENST00000462406.1_5'UTR	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	66					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CCCCAGTTTTCGTTCCCTTCA	0.463000													54	33					0	0	1	0	0
PEMT	10400	broad.mit.edu	37	17	17412815	17412815	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:17412815G>A	ENST00000395781.2	-	5	592	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	PEMT_ENST00000255389.5_Missense_Mutation_p.P171S|PEMT_ENST00000435340.2_Missense_Mutation_p.P149S|PEMT_ENST00000395782.1_Missense_Mutation_p.P134S|PEMT_ENST00000395783.1_Missense_Mutation_p.P134S|PEMT_ENST00000484838.2_5'UTR	NM_001267552.1	NP_001254481.1	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	134					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		ATGTTGAAGGGGAACACGGTC	0.592000													52	11					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230282870	230282870	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:230282870C>T	ENST00000341772.4	-	9	1697	c.1563G>A	c.(1561-1563)agG>agA	p.R521R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	521	EGF-like 8; calcium-binding (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TAACGAGGTCCCTGCAGGTGG	0.537000													86	49					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54744776	54744776	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:54744776A>T	ENST00000440558.2	-	5	934	c.886T>A	c.(886-888)Tgc>Agc	p.C296S	LILRA6_ENST00000419410.2_Missense_Mutation_p.C296S|LILRA6_ENST00000245621.5_Missense_Mutation_p.C296S|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.C296S|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCACCATAGCACCTGTACTGG	0.677000													9	172					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10483223	10483223	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:10483223G>A	ENST00000396554.3	+	2	525	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	AMPD3_ENST00000444303.2_5'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	53					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CGGGCAAAAGGAAGCCAAGGA	0.547000													13	16					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615354	179615354	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:179615354C>T	ENST00000360870.5	-	46	11995	c.11773G>A	c.(11773-11775)Gaa>Aaa	p.E3925K	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9745							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)			ATGTTTTCTTCCTTCTGTTCG	0.338000													8	15					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836656	43836656	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:43836656C>T	ENST00000372781.3	+	2	775	c.718C>T	c.(718-720)Cct>Tct	p.P240S	SEMG1_ENST00000244069.6_Missense_Mutation_p.P240S	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTCACTCTGTCCTGCGCACCA	0.378000													59	71					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201766	71201766	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:71201766C>T	ENST00000273936.4	+	1	1069	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	337						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGGAAGAATCATCTACAGAA	0.408000													33	42					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831464	61831464	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:61831464C>T	ENST00000280772.1	-	37	9366	c.9175G>A	c.(9175-9177)Gaa>Aaa	p.E3059K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3059					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGGGAGATTCCTTTCCTGGG	0.463000													55	77					0	0	1	0	0
CARKD	55739	broad.mit.edu	37	13	111289542	111289542	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:111289542C>T	ENST00000309957.2	+	9	853	c.839C>T	c.(838-840)tCc>tTc	p.S280F	CARKD_ENST00000424185.2_Missense_Mutation_p.S170F|CARKD_ENST00000458711.2_Missense_Mutation_p.S149F|CARKD_ENST00000470164.2_3'UTR	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	280	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CTGTCGGGCTCCCTGGGCGTC	0.567000													16	18					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122082298	122082298	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:122082298C>T	ENST00000454328.1	-	4	367	c.140G>A	c.(139-141)aGa>aAa	p.R47K	TNIP3_ENST00000507879.1_Missense_Mutation_p.R117K|TNIP3_ENST00000509841.1_Missense_Mutation_p.R124K|TNIP3_ENST00000057513.3_Missense_Mutation_p.R47K			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	47								p.R47K(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TACCTCTTTTCTTTGTTTTTC	0.313000													4	3					0	0	1	0	0
TNNI2	7136	broad.mit.edu	37	11	1862108	1862108	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:1862108G>A	ENST00000381906.1	+	6	315	c.246G>A	c.(244-246)atG>atA	p.M82I	TNNI2_ENST00000381905.3_Missense_Mutation_p.M82I|TNNI2_ENST00000381911.1_Missense_Mutation_p.M82I|TNNI2_ENST00000252898.7_Missense_Mutation_p.M82I	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	82					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGTACGACATGGAGGTGAGGG	0.701000													20	25					0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39234587	39234587	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:39234587C>T	ENST00000328867.4	-	1	527	c.219G>A	c.(217-219)gtG>gtA	p.V73V	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	73	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCATCCATTTCACGCCTTTGG	0.622000													12	25					0	0	1	0	0
FSTL3	10272	broad.mit.edu	37	19	681438	681438	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:681438C>T	ENST00000166139.4	+	4	643	c.611C>T	c.(610-612)tCc>tTc	p.S204F	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	204	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCTGTGCCCTCCAGCCCCGGC	0.692000			T	CCND1	B-CLL								9	16					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53580613	53580613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:53580613G>A	ENST00000025008.5	-	8	1664	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.R381*|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.R381*|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	381					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTCACCAGTCGGCCACAGCTA	0.398000													22	21					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9417795	9417795	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:9417795G>A	ENST00000378501.2	+	26	2739	c.2724G>A	c.(2722-2724)aaG>aaA	p.K908K	PLCB4_ENST00000278655.4_Silent_p.K908K|PLCB4_ENST00000334005.3_Silent_p.K908K|PLCB4_ENST00000378493.1_Silent_p.K908K|PLCB4_ENST00000378473.3_Silent_p.K920K|PLCB4_ENST00000414679.2_Silent_p.K920K|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	908					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGGAAGCCAAGAAAGGTGAGA	0.478000													15	17					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110644527	110644527	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:110644527G>A	ENST00000338081.3	-	3	810	c.639C>T	c.(637-639)ttC>ttT	p.F213F	DCX_ENST00000371993.2_Silent_p.F132F|DCX_ENST00000356220.3_Silent_p.F132F|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Silent_p.F132F|DCX_ENST00000488120.1_Silent_p.F132F	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	213	Doublecortin 1.				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						CCTTTTTAAAGAAGTTGTCTG	0.398000													71	5					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14037992	14037992	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:14037992C>T	ENST00000318003.7	+	22	2471	c.2230C>T	c.(2230-2232)Ctg>Ttg	p.L744L	CC2D1A_ENST00000589606.1_Silent_p.L744L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	744	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ACACAGGGGGCTGTTCAAGAC	0.602000													82	100					0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84691090	84691090	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:84691090C>T	ENST00000564996.1	+	3	818	c.677C>T	c.(676-678)gCc>gTc	p.A226V	KLHL36_ENST00000258157.5_Missense_Mutation_p.A226V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	226	BACK.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GAGCGCGAGGCCCACGCCCGC	0.682000													25	32					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337344	19337344	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:19337344G>A	ENST00000252575.5	+	7	1165	c.1122G>A	c.(1120-1122)ggG>ggA	p.G374G		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	374					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CATCCTCTGGGGATGAGGGGG	0.597000													34	42					0	0	1	0	0
CETN3	1070	broad.mit.edu	37	5	89701595	89701595	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:89701595A>G	ENST00000283122.3	-	3	299	c.175T>C	c.(175-177)Ttt>Ctt	p.F59L	CETN3_ENST00000522083.1_Missense_Mutation_p.F59L|CETN3_ENST00000522565.1_Missense_Mutation_p.F59L|CETN3_ENST00000522864.1_Missense_Mutation_p.F59L|CETN3_ENST00000522842.1_Missense_Mutation_p.F59L	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	59	EF-hand 1.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		TTTACATCAAACCCCAAGGCT	0.313000													21	26					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35351346	35351346	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:35351346C>T	ENST00000373347.1	-	7	1915	c.1647G>A	c.(1645-1647)caG>caA	p.Q549Q	DLGAP3_ENST00000235180.4_Silent_p.Q549Q			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	549					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGGGCGGGGCCTGGCTTCCCG	0.751000													11	8					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566965	136566965	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:136566965G>A	ENST00000264162.2	-	8	2962	c.2952C>T	c.(2950-2952)ttC>ttT	p.F984F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	984	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCCAGTTGGGAAAATCCGAG	0.493000													32	56					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977434	71977434	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:71977434C>T	ENST00000266674.5	+	18	1955	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Silent_p.F524F|LGR5_ENST00000536515.1_Silent_p.F476F			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	548						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TAGGCCCCTTCAAACCCTGTG	0.433000													113	159					0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76868896	76868896	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:76868896G>A	ENST00000372702.3	-	1	83	c.20C>T	c.(19-21)cCa>cTa	p.P7L	DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.P7L			Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	7						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCCCAGCTCTGGGAGAGAGGT	0.627000													14	29					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117335833	117335833	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:117335833G>A	ENST00000321322.6	-	17	3271	c.3270C>T	c.(3268-3270)agC>agT	p.S1090S	DSCAML1_ENST00000527706.1_Silent_p.S820S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1030	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCTGCCGGGGCTGTTCTCTC	0.597000													104	5					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283646	159283646	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:159283646G>A	ENST00000332217.5	-	1	803	c.804C>T	c.(802-804)tcC>tcT	p.S268S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CCTGTCCCAGGGAACTCTGGG	0.532000													96	72					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149541	41149541	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:41149541C>T	ENST00000263413.3	-	17	2689	c.2425G>A	c.(2425-2427)Gat>Aat	p.D809N	C6_ENST00000337836.5_Missense_Mutation_p.D809N	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	809	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTAAAGTAATCGTTGGAGTCT	0.423000													95	105					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678171	66678171	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:66678171G>A	ENST00000360242.5	+	7	1381	c.1263_splice	c.e7-1	p.E422_splice	CCDC102B_ENST00000584156.1_Splice_Site_p.E422_splice|CCDC102B_ENST00000319445.6_Splice_Site_p.E422_splice	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	422										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCTTTGAAAGGAATTACTGAA	0.318000													6	11					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97969611	97969611	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:97969611G>A	ENST00000224337.5	-	9	870	c.729C>T	c.(727-729)tcC>tcT	p.S243S	BLNK_ENST00000371176.2_Silent_p.S220S|BLNK_ENST00000427367.2_Silent_p.S243S|BLNK_ENST00000413476.2_Silent_p.S243S	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	243	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GTGGCAACGGGGATGGTGCAG	0.567000													110	145					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219618964	219618964	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:219618964C>T	ENST00000392102.1	+	20	3792	c.3452C>T	c.(3451-3453)tCc>tTc	p.S1151F	TTLL4_ENST00000457313.1_Missense_Mutation_p.P954S|TTLL4_ENST00000442769.1_Missense_Mutation_p.S1087F|TTLL4_ENST00000258398.4_Missense_Mutation_p.S1151F	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1151					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AAACCCAGTTCCTCAAAGGAC	0.527000													98	68					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68984731	68984731	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:68984731G>A	ENST00000288368.4	+	14	1772	c.1493_splice	c.e14-1	p.D499_splice	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	499	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.D499Y(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CCTTTATAGAGATAAAGATTA	0.303000													38	107					0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22974024	22974024	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:22974024C>T	ENST00000374639.3	+	3	604	c.486C>T	c.(484-486)gtC>gtT	p.V162V	C1QC_ENST00000374640.4_Silent_p.V162V|C1QC_ENST00000374637.1_Silent_p.V162V	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	162	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTGCAAAGTCCCCGGCCTCT	0.587000													44	39					0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89520454	89520454	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:89520454C>T	ENST00000370473.4	-	10	1795	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	526					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTCAAGTGTTCCTGATAACTC	0.448000													209	299					0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123663377	123663377	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:123663377C>T	ENST00000542236.1	+	3	711	c.330C>T	c.(328-330)tcC>tcT	p.S110S	BBS12_ENST00000314218.3_Silent_p.S110S	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	110					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TCCCCATTTCCATAATAGTAT	0.373000									Bardet-Biedl syndrome				40	63					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14842575	14842575	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:14842575C>T	ENST00000380881.4	-	10	2295	c.1480G>A	c.(1480-1482)Gac>Aac	p.D494N	FREM1_ENST00000380880.3_Missense_Mutation_p.D493N|FREM1_ENST00000422223.2_Missense_Mutation_p.D493N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	493					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACCACGAAGTCTTTGGTGGAG	0.522000													76	4					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73879481	73879481	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:73879481C>T	ENST00000334126.7	-	2	459	c.233G>A	c.(232-234)aGg>aAg	p.R78K	C2CD3_ENST00000539061.1_Missense_Mutation_p.R78K|C2CD3_ENST00000313663.7_Missense_Mutation_p.R78K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	78						centrosome		p.R78>?(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CAATGCATCCCTGGGACAAAA	0.438000													17	34					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390105	48390105	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:48390105C>T	ENST00000224600.4	-	1	886	c.773G>A	c.(772-774)cGg>cAg	p.R258Q		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	258	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCCCCAGTCCGCTCGCCCAC	0.657000													24	18					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327708	52327708	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:52327708C>T	ENST00000339223.4	+	2	886	c.707C>T	c.(706-708)tCc>tTc	p.S236F	FPR3_ENST00000595991.1_Missense_Mutation_p.S236F	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	236					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						ATGATTAAATCCAGCCGTCCC	0.458000													7	12					0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74447520	74447520	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:74447520C>T	ENST00000339953.5	-	4	632	c.511G>A	c.(511-513)Ggc>Agc	p.G171S		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	171	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTGTCTGGCCTGCAGAGCAC	0.602000													21	343					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578746	9578746	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9578746C>T	ENST00000301480.4	-	10	1090	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TCAGTGCCTTCAAAGGATTTA	0.393000													41	44					0	0	1	0	0
IGHV4-39	28394	broad.mit.edu	37	14	106877872	106877872	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:106877872G>A	ENST00000390619.2	-	0	171																											CAGGGTCTCCGAAGGCTTCAC	0.627000													32	30					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071243	9071243	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9071243C>T	ENST00000397910.4	-	3	16406	c.16203G>A	c.(16201-16203)gaG>gaA	p.E5401E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5403	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCCGGTCTCTCATGAGTGA	0.502000													248	236					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587447	247587447	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:247587447C>T	ENST00000366497.2	+	4	1482	c.702C>T	c.(700-702)atC>atT	p.I234I	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.I234I|NLRP3_ENST00000391828.3_Silent_p.I234I|NLRP3_ENST00000391827.2_Silent_p.I234I|NLRP3_ENST00000348069.2_Silent_p.I234I|NLRP3_ENST00000336119.3_Silent_p.I234I	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	234	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGAAAACAATCCTGGCCAGGA	0.532000													31	70					0	0	1	0	0
GPR68	8111	broad.mit.edu	37	14	91701232	91701232	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:91701232C>T	ENST00000531499.2	-	2	502	c.163G>A	c.(163-165)Gag>Aag	p.E55K	GPR68_ENST00000535815.1_Missense_Mutation_p.E55K|GPR68_ENST00000238699.3_Missense_Mutation_p.E65K			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	55					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		ACGCCCAGCTCGTTCCGGGCC	0.627000													14	22					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045956	9045956	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9045956G>A	ENST00000397910.4	-	5	35878	c.35675C>T	c.(35674-35676)aCt>aTt	p.T11892I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11894	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACAGTCAGAGTTAGAGTACT	0.488000													61	72					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922321	24922321	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:24922321C>T	ENST00000329468.2	+	1	1781	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCTACTGGACCCCTCATCCTG	0.537000													43	7					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7528158	7528158	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:7528158G>A	ENST00000313599.3	-	11	2777	c.2720C>T	c.(2719-2721)tCc>tTc	p.S907F	CD163L1_ENST00000416109.2_Missense_Mutation_p.S917F|CD163L1_ENST00000396630.1_Missense_Mutation_p.S907F|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	907	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GTCACACTGGGATTTGCCATT	0.527000													24	24					0	0	1	0	0
WDR45B	56270	broad.mit.edu	37	17	80575213	80575213	+	Silent	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:80575213A>G	ENST00000392325.4	-	8	959	c.765T>C	c.(763-765)caT>caC	p.H255H	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2			WD repeat domain 45B																		CTGCAAAAATATGCACTGTGC	0.517000													27	59					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52250221	52250221	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:52250221C>T	ENST00000595042.1	-	3	168	c.27G>A	c.(25-27)acG>acA	p.T9T	FPR1_ENST00000304748.4_Silent_p.T9T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	9					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CAGAGATGTTCGTGGGGAGAG	0.507000													11	18					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144507	55144507	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:55144507C>T	ENST00000396331.1	+	8	1356	c.999C>T	c.(997-999)ggC>ggT	p.G333G	LILRB1_ENST00000418536.2_Silent_p.G333G|LILRB1_ENST00000434867.2_Silent_p.G333G|LILRB1_ENST00000324602.7_Silent_p.G333G|LILRB1_ENST00000396317.1_Silent_p.G333G|LILRB1_ENST00000427581.2_Silent_p.G369G|LILRB1_ENST00000396327.3_Silent_p.G333G|LILRB1_ENST00000396315.1_Silent_p.G333G|LILRB1_ENST00000396332.4_Silent_p.G333G|LILRB1_ENST00000448689.1_Silent_p.G333G|LILRB1_ENST00000396321.2_Silent_p.G333G	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	333	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGCAGCCGGGCCCCACGGTGG	0.607000										HNSCC(37;0.09)			41	61					0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55606108	55606108	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:55606108G>C	ENST00000263433.3	-	12	1528	c.1513C>G	c.(1513-1515)Ccg>Gcg	p.P505A	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.P431A|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.P505A	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	505	Pro-rich.					cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCAGGCTCCGGAATCCTGGAG	0.607000													4	7					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214170398	214170398	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:214170398C>T	ENST00000366958.4	+	2	1128	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	PROX1_ENST00000498508.2_Missense_Mutation_p.R174W|PROX1_ENST00000261454.4_Missense_Mutation_p.R174W|PROX1_ENST00000435016.1_Missense_Mutation_p.R174W	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	174					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAATATAATTCGGGGTATGAG	0.498000													89	43					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678421	48678421	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:48678421C>T	ENST00000352832.5	+	18	4104	c.3732C>T	c.(3730-3732)ctC>ctT	p.L1244L	CACNA1G_ENST00000514079.1_Silent_p.L1267L|CACNA1G_ENST00000510366.1_Silent_p.L1267L|CACNA1G_ENST00000513964.1_Silent_p.L1267L|CACNA1G_ENST00000502264.1_Silent_p.L1244L|CACNA1G_ENST00000507510.2_Silent_p.L1267L|CACNA1G_ENST00000507609.1_Silent_p.L1267L|CACNA1G_ENST00000416767.4_Silent_p.L1267L|CACNA1G_ENST00000360761.4_Silent_p.L1244L|CACNA1G_ENST00000510115.1_Silent_p.L1244L|CACNA1G_ENST00000359106.5_Silent_p.L1267L|CACNA1G_ENST00000354983.4_Silent_p.L1244L|CACNA1G_ENST00000505165.1_Silent_p.L1267L|CACNA1G_ENST00000358244.5_Silent_p.L1244L|CACNA1G_ENST00000515765.1_Silent_p.L1267L|CACNA1G_ENST00000507896.1_Silent_p.L1267L|CACNA1G_ENST00000442258.2_Silent_p.L1244L|CACNA1G_ENST00000503485.1_Silent_p.L1267L|CACNA1G_ENST00000515411.1_Silent_p.L1267L|CACNA1G_ENST00000512389.1_Silent_p.L1267L|CACNA1G_ENST00000515165.1_Silent_p.L1267L|CACNA1G_ENST00000514717.1_Silent_p.L1244L|CACNA1G_ENST00000429973.2_Silent_p.L1267L|CACNA1G_ENST00000513689.2_Silent_p.L1267L|CACNA1G_ENST00000514181.1_Silent_p.L1267L|CACNA1G_ENST00000507336.1_Silent_p.L1267L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1267					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTTCCGCCTCCTGTGTCACC	0.627000													72	185					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639558	7639558	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:7639558G>A	ENST00000359156.4	-	9	2277	c.2075C>T	c.(2074-2076)tCg>tTg	p.S692L	CD163_ENST00000396620.3_Missense_Mutation_p.S725L|CD163_ENST00000432237.2_Missense_Mutation_p.S692L|CD163_ENST00000541972.1_Missense_Mutation_p.S680L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	692					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.S692*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGAATTGCACGAGGACAGTGT	0.438000													35	52					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56538553	56538553	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:56538553C>T	ENST00000390649.3	+	7	954	c.954C>T	c.(952-954)ttC>ttT	p.F318F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	318	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACGTCTTCTTCCTCCCCGTTA	0.557000													6	11					0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5106112	5106112	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:5106112G>A	ENST00000315997.5	-	5	906	c.705C>T	c.(703-705)aaC>aaT	p.N235N	ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000350219.4_Silent_p.N273N|C16orf89_ENST00000472572.3_Silent_p.N235N|C16orf89_ENST00000474471.3_Silent_p.N235N|C16orf89_ENST00000422873.1_Silent_p.N273N	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	235						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CAGCTCTGCGGTTCAAGTCCA	0.562000													30	62					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53238396	53238396	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:53238396C>T	ENST00000359499.4	-	5	549	c.538G>A	c.(538-540)Gag>Aag	p.E180K	KRT78_ENST00000304620.4_Missense_Mutation_p.E290K			Q8N1N4	K2C78_HUMAN	keratin 78	290	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GCGATCTCCTCGTACCGGGCG	0.627000													46	67					0	0	1	0	0
CARKD	55739	broad.mit.edu	37	13	111289543	111289543	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:111289543C>T	ENST00000309957.2	+	9	854	c.840C>T	c.(838-840)tcC>tcT	p.S280S	CARKD_ENST00000424185.2_Silent_p.S170S|CARKD_ENST00000458711.2_Silent_p.S149S|CARKD_ENST00000470164.2_3'UTR	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	280	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						TGTCGGGCTCCCTGGGCGTCC	0.567000													16	18					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6506328	6506328	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:6506328C>T	ENST00000263125.5	-	13	1491	c.1392G>A	c.(1390-1392)ggG>ggA	p.G464G	PRKCQ_ENST00000397176.2_Silent_p.G464G|PRKCQ_ENST00000539722.1_Silent_p.G339G	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	464	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ACATTAAGTCCCCTCCGTTGA	0.383000													143	149					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6690735	6690735	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:6690735C>T	ENST00000245907.6	-	27	3486	c.3394G>A	c.(3394-3396)Gga>Aga	p.G1132R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1132					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.G1132R(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTCCGTAATCCACCCTGAGAT	0.537000													7	21					0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13624584	13624584	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:13624584C>T	ENST00000361306.1	+	6	864	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	EGFL6_ENST00000380602.3_Missense_Mutation_p.H203Y	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	203	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CTGCAAATGTCACATTGGTTT	0.403000													81	4					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111666390	111666390	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:111666390C>T	ENST00000389811.4	+	11	1037	c.813C>T	c.(811-813)acC>acT	p.T271T	ACOXL_ENST00000439055.1_Silent_p.T271T			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	271					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GGCCCAAAACCAAGGAAGAGG	0.527000													48	72					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31526403	31526403	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:31526403G>A	ENST00000511367.2	-	4	881	c.637C>T	c.(637-639)Cca>Tca	p.P213S	DROSHA_ENST00000442743.1_Missense_Mutation_p.P213S|DROSHA_ENST00000344624.3_Missense_Mutation_p.P213S|DROSHA_ENST00000513349.1_Missense_Mutation_p.P213S	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	213					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGAGCCTTTGGGAGTGGGTAT	0.507000													23	32					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76873919	76873919	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:76873919A>T	ENST00000409709.3	+	14	1847	c.1575A>T	c.(1573-1575)ttA>ttT	p.L525F	MYO7A_ENST00000458637.2_Missense_Mutation_p.L525F|MYO7A_ENST00000409893.1_Missense_Mutation_p.L525F|MYO7A_ENST00000409619.2_Missense_Mutation_p.L514F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	525	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCACCATGTTACACAAGCTGA	0.592000													68	83					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72344201	72344201	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:72344201G>A	ENST00000299687.5	+	1	1226	c.1226G>A	c.(1225-1227)aGt>aAt	p.S409N	ZNF407_ENST00000309902.6_Missense_Mutation_p.S409N|ZNF407_ENST00000577538.1_Missense_Mutation_p.S409N|ZNF407_ENST00000582337.1_Missense_Mutation_p.S409N	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CACGGTAACAGTGTAACCTCG	0.458000													16	11					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74902174	74902174	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:74902174C>T	ENST00000569840.2	+	8	1504	c.930C>T	c.(928-930)ccC>ccT	p.P310P	MGAT5B_ENST00000428789.2_Silent_p.P321P|MGAT5B_ENST00000301618.4_Silent_p.P310P|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	310						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGGCGGGCCCCTAGGGGAGA	0.642000													45	78					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11169428	11169428	+	Splice_Site	SNP	C	C	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:11169428C>A	ENST00000361445.4	-	56	7524		c.e56-1		MTOR_ENST00000376838.1_Splice_Site	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)						cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCGTCTCCAACTGGAATACAC	0.388000													43	55					1.19451e-25	1.20924e-25	1	1	0
SLC35F4	341880	broad.mit.edu	37	14	58063571	58063571	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:58063571C>T	ENST00000339762.6	-	1	44	c.45G>A	c.(43-45)ggG>ggA	p.G15G	SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000556826.1_Intron					solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAGCTGCCTCCCACTGGTCA	0.418000													16	27					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52498061	52498061	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:52498061C>T	ENST00000219746.9	-	3	477	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	TOX3_ENST00000407228.3_Missense_Mutation_p.E60K	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	65					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	p.E65*(1)|p.E60*(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGTGGAATTTCGAATTCCTCG	0.498000													80	93					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728536	51728536	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:51728536G>A	ENST00000262262.4	+	2	121	c.100G>A	c.(100-102)Ggt>Agt	p.G34S	CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.G34S	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	34	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GGTACAGGAGGGTTTGTGCGT	0.567000													32	46					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148827821	148827821	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:148827821C>T	ENST00000336498.3	+	11	1306	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.S5F	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	356	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CAGGCATTTTCCGAAGAGGAA	0.428000													53	81					0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134393831	134393831	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:134393831G>A	ENST00000423007.1	+	14	1714		c.e14-1		POMT1_ENST00000541219.1_Splice_Site|POMT1_ENST00000341012.7_Splice_Site|POMT1_ENST00000404875.2_Splice_Site|POMT1_ENST00000354713.4_Splice_Site|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000372228.3_Splice_Site|POMT1_ENST00000402686.3_Splice_Site|POMT1_ENST00000419118.2_Splice_Site|POMT1_ENST00000485278.1_Splice_Site	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1						multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TCTTTTTGCAGGAAATTGTGA	0.413000													110	265					0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671264	39671264	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:39671264C>T	ENST00000398930.1	+	4	435	c.81C>T	c.(79-81)ccC>ccT	p.P27P	KCNJ15_ENST00000398932.1_Silent_p.P27P|KCNJ15_ENST00000328656.3_Silent_p.P27P|KCNJ15_ENST00000398934.1_Silent_p.P27P|KCNJ15_ENST00000398938.2_Silent_p.P27P			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	27					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CCAACAGACCCCGCGTCATGT	0.552000													60	43					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48266831	48266831	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:48266831C>T	ENST00000225964.5	-	39	2854	c.2736G>A	c.(2734-2736)gaG>gaA	p.E912E		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	912	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CAGGGCCAGTCTCACCACGGG	0.637000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						60	115					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41831771	41831771	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:41831771C>T	ENST00000539469.2	+	1	287	c.25C>T	c.(25-27)Cag>Tag	p.Q9*	PDZRN4_ENST00000402685.2_Intron|PDZRN4_ENST00000298919.7_5'UTR|RP11-413B19.2_ENST00000547168.1_RNA	NM_013377.3	NP_037509.3	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	0							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTGCACTTTTCAGAAAAGAGA	0.438000													105	131					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057725	63057725	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:63057725T>A	ENST00000332793.6	+	1	90	c.88T>A	c.(88-90)Tta>Ata	p.L30I	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	30						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCTCTCATGTTATTAATCCC	0.443000													22	40					0	0	1	0	0
STOML1	9399	broad.mit.edu	37	15	74280975	74280975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:74280975G>A	ENST00000316900.5	-	4	683	c.559C>T	c.(559-561)Cag>Tag	p.Q187*	STOML1_ENST00000561656.1_Nonsense_Mutation_p.Q100*|STOML1_ENST00000316911.6_Nonsense_Mutation_p.Q137*|STOML1_ENST00000541638.1_Nonsense_Mutation_p.Q145*|STOML1_ENST00000359750.4_Nonsense_Mutation_p.Q187*|STOML1_ENST00000564777.1_Nonsense_Mutation_p.Q137*	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	187						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTCTCCATCTGGATCTCCCGC	0.612000													33	31					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77280476	77280476	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:77280476G>A	ENST00000376896.2	+	7	1577	c.965G>A	c.(964-966)gGa>gAa	p.G322E	RORB_ENST00000396204.2_Missense_Mutation_p.G333E	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	333	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTGTTTGAAGGAAAATATGGA	0.353000													82	169					0	0	1	0	0
ZNF19	7567	broad.mit.edu	37	16	71510079	71510079	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:71510079G>A	ENST00000288177.5	-	6	626	c.371C>T	c.(370-372)cCt>cTt	p.P124L	ZNF19_ENST00000565637.1_Missense_Mutation_p.P82L|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.P124L|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.P54L	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	124						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		AGTTCTCTGAGGGACACTCTT	0.453000													35	34					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640089	7640089	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:7640089C>T	ENST00000359156.4	-	8	2118	c.1916G>A	c.(1915-1917)gGa>gAa	p.G639E	CD163_ENST00000396620.3_Missense_Mutation_p.G672E|CD163_ENST00000432237.2_Missense_Mutation_p.G639E|CD163_ENST00000541972.1_Missense_Mutation_p.G627E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	639	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATTTCCTTTTCCAAAACGTGC	0.483000													52	57					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31674349	31674349	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:31674349C>T	ENST00000331728.4	+	16	1953	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000444929.2_Silent_p.I367I|LIMK2_ENST00000333611.4_Silent_p.I592I	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	613						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGCTGGGCATCCCGCTGCCTG	0.607000													143	137					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775889	24775889	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:24775889G>A	ENST00000221166.5	+	3	3303	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K	NEFM_ENST00000437366.2_Missense_Mutation_p.E802K|NEFM_ENST00000433454.2_Missense_Mutation_p.E465K|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.E623K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	841	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCCAGCAGATGAAAAGAAGGG	0.498000													17	33					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142762080	142762080	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:142762080G>A	ENST00000230173.6	+	25	4086	c.3610G>A	c.(3610-3612)Gga>Aga	p.G1204R	GPR126_ENST00000296932.8_Missense_Mutation_p.G1176R|GPR126_ENST00000367608.2_Intron|GPR126_ENST00000367609.3_Intron	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	1204	Ser-rich.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CAACAAAAGTGGATCACTCAG	0.328000													2	0					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7682693	7682693	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:7682693G>A	ENST00000572933.1	+	36	7134	c.5674G>A	c.(5674-5676)Gaa>Aaa	p.E1892K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E1892K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1892	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATGGCTTTGAAATAAATCT	0.552000													25	1					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634561	70634561	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:70634561C>T	ENST00000381269.2	-	2	1332	c.579G>A	c.(577-579)gaG>gaA	p.E193E	SLC8A3_ENST00000356921.2_Silent_p.E193E|SLC8A3_ENST00000534137.1_Silent_p.E193E|SLC8A3_ENST00000357887.3_Silent_p.E193E|SLC8A3_ENST00000528359.1_Silent_p.E193E	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	193					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCTTGCGAGTCTCTCCGTCTG	0.488000													36	36					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100217929	100217929	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:100217929C>A	ENST00000317233.4	-	13	1574	c.1339G>T	c.(1339-1341)Ggc>Tgc	p.G447C	AFF3_ENST00000409579.1_Missense_Mutation_p.G472C|AFF3_ENST00000409236.1_Missense_Mutation_p.G447C|AFF3_ENST00000356421.2_Missense_Mutation_p.G472C	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	447					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGCTTGCTGCCCTCACTCTCG	0.647000													19	9					1.10923e-09	1.11688e-09	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40743881	40743881	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:40743881C>T	ENST00000373198.3	-	23	3358	c.3123G>A	c.(3121-3123)gaG>gaA	p.E1041E	PTPRT_ENST00000373201.1_Silent_p.E1009E|PTPRT_ENST00000373184.1_Silent_p.E1029E|PTPRT_ENST00000356100.2_Silent_p.E1028E|PTPRT_ENST00000373190.1_Silent_p.E1018E|PTPRT_ENST00000373193.3_Silent_p.E1022E|PTPRT_ENST00000373187.1_Silent_p.E1019E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1019	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTGCCAGGGGCTCTGTTTCAA	0.527000													59	63					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82538233	82538233	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:82538233C>T	ENST00000423517.2	-	8	13734	c.13397G>A	c.(13396-13398)aGa>aAa	p.R4466K	PCLO_ENST00000333891.8_Missense_Mutation_p.R4466K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4397	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGGACCAATCTTTCCGGCAG	0.413000													93	43					0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8391429	8391429	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:8391429C>T	ENST00000356406.5	-	12	1410	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	ACOX3_ENST00000413009.2_Missense_Mutation_p.D445N|ACOX3_ENST00000503233.1_Missense_Mutation_p.D445N	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	445					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CAGTTGGGATCGTTGTCATCT	0.493000													73	93					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93510677	93510677	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:93510677C>T	ENST00000394196.4	+	17	3191	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	CHD2_ENST00000557381.1_Missense_Mutation_p.S708F	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	708					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GTGGAGAAATCCCTTCCTGCT	0.463000													48	64					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85972145	85972145	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:85972145G>A	ENST00000372117.3	+	15	1867	c.1764G>A	c.(1762-1764)ggG>ggA	p.G588G	CDHR1_ENST00000332904.3_Silent_p.G588G|CDHR1_ENST00000440770.2_Silent_p.G292G	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	588	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TGGTGCTAGGGACCCCAGTGA	0.498000													29	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640118	179640118	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:179640118C>T	ENST00000589042.1	-	28	6697	c.6473G>A	c.(6472-6474)gGa>gAa	p.G2158E	TTN_ENST00000342992.6_Missense_Mutation_p.G2158E|TTN_ENST00000591111.1_Missense_Mutation_p.G2158E|TTN_ENST00000342175.6_Missense_Mutation_p.G2112E|TTN_ENST00000360870.5_Missense_Mutation_p.G2158E|TTN_ENST00000460472.2_Missense_Mutation_p.G2112E|TTN_ENST00000359218.5_Missense_Mutation_p.G2112E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1919	Ig-like 10.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G2158V(3)|p.G2112V(3)		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)			GGAGGTTTCTCCAGCTATGTT	0.428000													68	50					0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62199147	62199147	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:62199147T>C	ENST00000394997.1	+	7	1053	c.788T>C	c.(787-789)tTg>tCg	p.L263S	HIF1A_ENST00000337138.4_Missense_Mutation_p.L262S|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.L203S|HIF1A_ENST00000323441.6_Missense_Mutation_p.L262S|HIF1A_ENST00000539097.1_Missense_Mutation_p.L286S			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	262	Interaction with TSGA10 (By similarity).|PAS 2.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		ATTACCGAATTGATGGGATAT	0.333000													69	76					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837394	12837394	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:12837394C>T	ENST00000357726.4	+	3	1131	c.1104C>T	c.(1102-1104)atC>atT	p.I368I		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	368										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGCGCCATCCTGCCTGCCC	0.632000													49	83					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449833	105449833	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:105449833G>T	ENST00000337685.2	+	5	1193	c.408G>T	c.(406-408)aaG>aaT	p.K136N	MUM1L1_ENST00000372552.1_Missense_Mutation_p.K136N|MUM1L1_ENST00000357175.2_Missense_Mutation_p.K136N	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	136										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AATACCGGAAGGATGAAGGTG	0.428000													20	3					3.01185e-09	3.0303e-09	1	1	0
SLC16A14	151473	broad.mit.edu	37	2	230910901	230910901	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:230910901C>T	ENST00000295190.4	-	4	1399	c.941G>A	c.(940-942)cGa>cAa	p.R314Q		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	314						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TACAAACATTCGATTTGTAAA	0.453000													21	14					0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29533401	29533401	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:29533401C>T	ENST00000373791.3	-	4	567	c.195G>A	c.(193-195)gaG>gaA	p.E65E	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Silent_p.E141E	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	141					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TGAACACAGCCTCGGTCCGCC	0.567000													38	37					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47605541	47605541	+	Silent	SNP	G	G	A	rs140770758		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:47605541G>A	ENST00000273857.4	-	20	2684	c.2685C>T	c.(2683-2685)atC>atT	p.I895I	CORIN_ENST00000505909.1_Silent_p.I858I|CORIN_ENST00000502252.1_Silent_p.I828I|CORIN_ENST00000508498.1_Silent_p.I756I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	895	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCAGCTCAACGATGCTGATGT	0.532000													52	58					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6828173	6828173	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:6828173C>T	ENST00000304076.2	+	10	1108	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	VAV1_ENST00000539284.1_Silent_p.L241L|VAV1_ENST00000602142.1_Silent_p.L338L|VAV1_ENST00000599806.1_Silent_p.L283L|VAV1_ENST00000596764.1_Silent_p.L306L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	338	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AATATCACCTCCTTCTCCAGG	0.572000													28	44					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31601157	31601157	+	Splice_Site	SNP	C	C	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:31601157C>G	ENST00000376033.2	+	17	4555	c.4319_splice	c.e17-1	p.R1441_splice	PRRC2A_ENST00000376007.4_Splice_Site_p.R1441_splice	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1441	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TTTCTCCAGTCGTCCTCCAGA	0.532000													36	115					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61488334	61488334	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:61488334C>T	ENST00000257215.5	+	3	395	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	93					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCCGTGACTCCATGCAGTACG	0.617000													50	72					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088177	9088177	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9088177C>T	ENST00000397910.4	-	1	3841	c.3638G>A	c.(3637-3639)gGa>gAa	p.G1213E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1213	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGCTTTTTCCTATGGCACC	0.488000													93	122					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227492	38227492	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:38227492G>A	ENST00000373048.4	-	3	434	c.435C>T	c.(433-435)ggC>ggT	p.G145G	EPHA10_ENST00000427468.2_Silent_p.G145G|EPHA10_ENST00000319637.6_Silent_p.G145G	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	145						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCGGCTGCCGCCTAGGCGGG	0.667000													21	30					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62664308	62664308	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:62664308C>T	ENST00000535781.1	+	20	2779	c.2668C>T	c.(2668-2670)Ctt>Ttt	p.L890F	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	930					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CGGGGACATCCTTAGGCTGGT	0.632000													37	48					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237240104	237240104	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:237240104C>T	ENST00000409907.3	-	18	2545	c.2271G>A	c.(2269-2271)caG>caA	p.Q757Q	IQCA1_ENST00000309507.5_Silent_p.Q754Q|IQCA1_ENST00000431676.2_Silent_p.Q716Q			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	757							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GCCGGATTCTCTGATCTGTGA	0.483000													69	193					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430634	43430634	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:43430634C>T	ENST00000446844.3	-	0	1033				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GCCACCATATCGGTCCCGTAT	0.502000													96	76					0	0	1	0	0
H2AFY	9555	broad.mit.edu	37	5	134696215	134696215	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:134696215G>A	ENST00000511689.1	-	5	1153	c.560C>T	c.(559-561)tCc>tTc	p.S187F	H2AFY_ENST00000510038.1_Missense_Mutation_p.S187F|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000312469.4_Missense_Mutation_p.S187F|H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000304332.4_Missense_Mutation_p.S186F	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	187	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTCTTGGTGGAGAGGACTGT	0.617000													30	53					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151131060	151131060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:151131060C>T	ENST00000474524.1	+	40	6207	c.6169C>T	c.(6169-6171)Cga>Tga	p.R2057*	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2057	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.R2057*(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCGCAAGTTCGACAGCAGCA	0.547000													59	55					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913716	6913716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:6913716G>A	ENST00000299459.2	-	1	114	c.16C>T	c.(16-18)Cag>Tag	p.Q6*		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACTTGTGTCTGATTTATCTGT	0.413000													51	54					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898197	175898197	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:175898197G>A	ENST00000359240.3	+	5	2191	c.1521G>A	c.(1519-1521)agG>agA	p.R507R	ADAM29_ENST00000445694.1_Silent_p.R507R|ADAM29_ENST00000514159.1_Silent_p.R507R|ADAM29_ENST00000404450.4_Silent_p.R507R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	507	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGTGTAGGAGGATTTTTGGTG	0.448000													54	75					0	0	1	0	0
MRPL2	51069	broad.mit.edu	37	6	43023883	43023883	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:43023883G>A	ENST00000388752.3	-	4	880	c.456C>T	c.(454-456)atC>atT	p.I152I	MRPL2_ENST00000230413.5_Silent_p.I152I|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	152					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		TTTCTGTGGCGATGATCCAGC	0.552000													6	198					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714425	183714425	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:183714425G>A	ENST00000511685.1	+	26	6723	c.6600G>A	c.(6598-6600)agG>agA	p.R2200R	TENM3_ENST00000406950.2_Silent_p.R2200R					teneurin transmembrane protein 3																		TACGTCAAAGGGGCACGGAAA	0.502000													24	47					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170103347	170103347	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:170103347C>T	ENST00000263816.3	-	21	3343	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	LRP2_ENST00000443831.1_Missense_Mutation_p.E883K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1020					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGGGTGGTTCATTGGTTGGG	0.502000													49	39					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170428878	170428878	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:170428878G>A	ENST00000439128.2	-	20	2455	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	NEK1_ENST00000511633.1_Silent_p.I589I|NEK1_ENST00000510533.1_Silent_p.I561I|NEK1_ENST00000512193.1_Silent_p.I536I|NEK1_ENST00000507142.1_Silent_p.I633I	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	605					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCAGTGATTCGATTTTTTTGC	0.338000													27	24					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183848072	183848072	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:183848072G>A	ENST00000360982.2	-	12	1819	c.1061C>T	c.(1060-1062)tCt>tTt	p.S354F	NCKAP1_ENST00000361354.3_Missense_Mutation_p.S348F	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	348					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTTCAGTGCAGATCTTAAAAA	0.343000													39	96					0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	939098	939098	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:939098G>A	ENST00000265846.5	-	9	1044	c.825C>T	c.(823-825)ttC>ttT	p.F275F	ADAP1_ENST00000449296.2_Silent_p.F203F|ADAP1_ENST00000539900.1_Silent_p.F286F	NM_006869.2	NP_006860.1	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	275	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						CATCCATGGTGAACCAGCGCT	0.637000													22	16					0	0	1	0	0
KRR1	11103	broad.mit.edu	37	12	75895757	75895757	+	Silent	SNP	A	A	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:75895757A>C	ENST00000229214.4	-	8	878	c.855T>G	c.(853-855)ggT>ggG	p.G285G	GLIPR1_ENST00000266659.3_3'UTR|KRR1_ENST00000438169.2_Silent_p.G228G	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	285	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AAAAGTATTCACCACTAGCCA	0.373000													66	85					0	0	1	0	0
RGL4	266747	broad.mit.edu	37	22	24037192	24037192	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:24037192G>A	ENST00000290691.5	+	6	2242	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	RGL4_ENST00000401461.1_Missense_Mutation_p.D222N	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	358	Ras-GEF.		D -> V (in dbSNP:rs8137247).		small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						AGTGAAGAGGGACCTACTGAT	0.463000													25	39					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91784645	91784645	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:91784645C>T	ENST00000370425.3	-	25	2900	c.2802G>A	c.(2800-2802)ctG>ctA	p.L934L	HFM1_ENST00000294696.5_Silent_p.L166L|HFM1_ENST00000370424.3_Silent_p.L613L|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	934	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAATTTTTTCCAGTTGTTTGG	0.333000													31	40					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104031983	104031983	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:104031983C>T	ENST00000388887.2	+	8	1103	c.899C>T	c.(898-900)cCt>cTt	p.P300L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	300					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TATGATGGGCCTGGACAGGTG	0.478000													16	22					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	76007202	76007202	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:76007202C>T	ENST00000370855.5	-	2	45		c.e2-1		SLC44A5_ENST00000469525.1_Splice_Site|SLC44A5_ENST00000370859.3_Splice_Site	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5							integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGAAAAGAGTCTGTGATAAAA	0.328000													17	30					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125094555	125094555	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:125094555C>T	ENST00000522917.1	+	33	4453	c.4247C>T	c.(4246-4248)cCa>cTa	p.P1416L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1416L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1416	C2 5.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCCACATTCCCAAAAGAGTCC	0.478000													180	81					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32012985	32012985	+	Silent	SNP	C	C	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:32012985C>G	ENST00000375244.3	-	32	10926	c.10725G>C	c.(10723-10725)tcG>tcC	p.S3575S	TNXB_ENST00000451343.1_Silent_p.S4S|TNXB_ENST00000375247.2_Silent_p.S3573S			P22105	TENX_HUMAN	tenascin XB	3620	Fibronectin type-III 27.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCACGCTCCACGAGAGGCGCA	0.652000													12	37					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24579117	24579117	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:24579117G>A	ENST00000358321.3	+	2	430	c.169G>A	c.(169-171)Gat>Aat	p.D57N		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	57	SMB.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CTGCTGCTTGGATTTCCGGGA	0.607000													37	167					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76457729	76457729	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:76457729C>T	ENST00000389840.5	-	58	9318	c.9194G>A	c.(9193-9195)aGc>aAc	p.S3065N	DNAH17_ENST00000585328.1_Missense_Mutation_p.S3074N|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGGTCTGCGCTCTCATTCTT	0.537000													6	8					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170152	113170152	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:113170152G>A	ENST00000401783.2	-	38	8064	c.7728C>T	c.(7726-7728)gcC>gcT	p.A2576A	SVEP1_ENST00000297826.5_Silent_p.A502A|SVEP1_ENST00000374469.1_Silent_p.A2553A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2576	Sushi 20.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGATGATTATGGCACCATAGC	0.478000													44	32					0	0	1	0	0
SNORD113-1	767561	broad.mit.edu	37	14	101391221	101391221	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:101391221G>A	ENST00000365321.1	+	0	61					NR_003229.1																						CCTAAACTCTGAAGTCCATTA	0.353000													19	19					0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71359492	71359492	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:71359492G>A	ENST00000373677.1	+	2	2258	c.996G>A	c.(994-996)gaG>gaA	p.E332E	NHSL2_ENST00000535692.1_Silent_p.E332E|NHSL2_ENST00000510661.1_Silent_p.E467E|NHSL2_ENST00000540800.1_Silent_p.E698E			F5H593	F5H593_HUMAN	NHS-like 2	698										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AGGCCAGGGAGATATCATCCC	0.582000													36	1					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168180963	168180963	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:168180963C>T	ENST00000519560.1	-	17	2154	c.1735G>A	c.(1735-1737)Gga>Aga	p.G579R	SLIT3_ENST00000404867.3_Missense_Mutation_p.G579R|SLIT3_ENST00000332966.8_Missense_Mutation_p.G579R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	579					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGCTGCTCCATCGAAAGCT	0.532000													6	8					0	0	1	0	0
TP53AIP1	63970	broad.mit.edu	37	11	128807416	128807416	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:128807416A>T	ENST00000602346.1	-	2	507	c.298T>A	c.(298-300)Ttc>Atc	p.F100I	TP53AIP1_ENST00000530777.1_Intron|TP53AIP1_ENST00000458238.2_Intron|TP53AIP1_ENST00000531399.1_Intron	NM_001251964.1	NP_001238893.1	Q9HCN2	TPIP1_HUMAN	tumor protein p53 regulated apoptosis inducing protein 1	0					apoptosis	mitochondrion				large_intestine(1)|lung(1)|skin(1)	3						AATGCTCTGAACTGGGGACAG	0.577000													22	2					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038368	75038368	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:75038368G>A	ENST00000326665.5	-	14	3244	c.3026C>T	c.(3025-3027)tCg>tTg	p.S1009L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1009	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTGCCCTCCGAAACCTGCAT	0.542000													30	32					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62688024	62688024	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:62688024C>T	ENST00000281156.4	-	4	708	c.430G>A	c.(430-432)Gct>Act	p.A144T		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CGTGAATAAGCTTCCCCAGGT	0.383000													19	68					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455411	187455411	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:187455411T>C	ENST00000307161.5	-	2	686	c.485A>G	c.(484-486)aAc>aGc	p.N162S	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	162					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TGCACGGAGGTTGGGCAGGAC	0.597000													47	35					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228210406	228210406	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:228210406C>T	ENST00000284523.1	+	2	188	c.110C>T	c.(109-111)tCg>tTg	p.S37L	WNT3A_ENST00000366753.2_Missense_Mutation_p.S37L	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	37					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TCCCTGGGCTCGCAGCCCATC	0.647000													71	49					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211541730	211541730	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:211541730G>A	ENST00000233072.5	+	37	4470		c.e37-1		CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TATTTTTCCAGATTGATTAGA	0.328000													38	67					0	0	1	0	0
TMEM59L	25789	broad.mit.edu	37	19	18726820	18726820	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:18726820C>T	ENST00000600490.1	+	5	629	c.444C>T	c.(442-444)tcC>tcT	p.S148S	TMEM59L_ENST00000262817.3_Silent_p.S148S			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	148						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GGGCCCTCTCCCTCTTGGACT	0.507000													40	40					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27412604	27412604	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:27412604C>T	ENST00000326799.3	-	11	1293	c.1145G>A	c.(1144-1146)gGg>gAg	p.G382E	YME1L1_ENST00000375972.3_Missense_Mutation_p.G292E|YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Missense_Mutation_p.G325E	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	382					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTTTCCAGTCCCTGGGGGTCC	0.378000													50	54					0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756374	183756374	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:183756374G>A	ENST00000382489.3	+	7	1097	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HTR3D_ENST00000334128.2_Missense_Mutation_p.G191E|HTR3D_ENST00000428798.2_Missense_Mutation_p.G316E|HTR3D_ENST00000453435.1_Missense_Mutation_p.G145E	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	366						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCCAGAAGGGAAATAAGGGC	0.657000													17	28					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862387	14862387	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:14862387C>T	ENST00000285046.5	+	1	1919	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S	FGD5_ENST00000543601.1_Silent_p.S362S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	603					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACCTTCCGTCCAGCGGCACCT	0.547000													47	52					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135272633	135272633	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:135272633C>T	ENST00000285968.6	+	10	1392	c.1366C>T	c.(1366-1368)Cat>Tat	p.H456Y	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	456					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAACCCTTTTCATCTGGAGCT	0.433000													27	49					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583934	35583934	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:35583934C>T	ENST00000287272.2	+	9	1381	c.1361C>T	c.(1360-1362)cCc>cTc	p.P454L	UNC5D_ENST00000449677.1_Missense_Mutation_p.P99L|UNC5D_ENST00000453357.2_Missense_Mutation_p.P518L|UNC5D_ENST00000404895.2_Missense_Mutation_p.P523L|UNC5D_ENST00000420357.1_Missense_Mutation_p.P456L|UNC5D_ENST00000416672.1_Missense_Mutation_p.P528L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	523					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)		ACAATGCATCCCAGAAATAAA	0.478000													40	59					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104170614	104170614	+	Silent	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:104170614T>C	ENST00000374861.3	+	3	806	c.522T>C	c.(520-522)agT>agC	p.S174S	ZNF189_ENST00000259395.4_Silent_p.S146S|ZNF189_ENST00000339664.2_Silent_p.S188S	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	188					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TTAGTCGCAGTTCATTTGTTA	0.413000													94	55					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058495	79058495	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:79058495G>A	ENST00000388820.4	-	19	3968	c.3758C>T	c.(3757-3759)cCt>cTt	p.P1253L		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1253					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTCAGGACTAGGAGAGGAGTG	0.667000													25	24					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049417	36049417	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:36049417G>A	ENST00000282507.3	-	4	518	c.417C>T	c.(415-417)ttC>ttT	p.F139F	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Silent_p.F105F	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	139						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCACCATGTCGAAGTTCTCAT	0.368000													20	26					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101512313	101512313	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:101512313G>A	ENST00000553692.1	+	0	28				MIR381_ENST00000362150.1_RNA																							AATATACAAGGGCAAGCTCTC	0.473000													14	6					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743173	102743173	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:102743173T>C	ENST00000210633.3	+	14	1895	c.1817T>C	c.(1816-1818)aTg>aCg	p.M606T	MRPL43_ENST00000342071.1_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.M601T|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000299179.5_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	601	Ig-like C2-type.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AATGGGAGCATGGGCCTGAGC	0.632000													12	19					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66765504	66765504	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:66765504G>A	ENST00000359742.4	-	23	3222	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	GRIP1_ENST00000398016.3_Silent_p.I942I|GRIP1_ENST00000286445.7_Silent_p.I979I			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	994					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTGGAGACATGATCTCCTTTA	0.483000													58	74					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107618209	107618209	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:107618209A>G	ENST00000423487.2	-	8	1177	c.881T>C	c.(880-882)aTt>aCt	p.I294T	ABCA1_ENST00000374736.3_Intron			O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	0					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGTTTCAAAATATGTCTCTC	0.458000													38	77					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129802559	129802559	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:129802559G>A	ENST00000421865.2	+	55	7773	c.7724G>A	c.(7723-7725)aGg>aAg	p.R2575K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2575	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCACCACCTAGGAGAAAACGA	0.428000													68	10					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52951769	52951769	+	Missense_Mutation	SNP	G	G	A	rs150440372		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:52951769G>A	ENST00000349258.4	-	4	2721	c.2177C>T	c.(2176-2178)tCc>tTc	p.S726F	THSD1_ENST00000544466.1_Missense_Mutation_p.S400F|THSD1_ENST00000258613.4_Missense_Mutation_p.S779F	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	779						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ATCTTTGGGGGATATGGGAGA	0.522000													68	126					0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24975454	24975454	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:24975454C>T	ENST00000250378.3	-	4	409	c.380G>A	c.(379-381)gGg>gAg	p.G127E	CMA1_ENST00000206446.4_Missense_Mutation_p.G16E|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	127	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GGGGAGTGTCCCCACAGCCAG	0.572000													40	46					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709307	176709307	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:176709307G>A	ENST00000367662.3	+	14	5290	c.4126G>A	c.(4126-4128)Gag>Aag	p.E1376K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1376					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCAGAGGACGAGGGGCAGAA	0.483000													17	57					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26509883	26509883	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:26509883T>C	ENST00000361530.6	+	8	876	c.731T>C	c.(730-732)gTc>gCc	p.V244A	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000374253.5_Missense_Mutation_p.V244A			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	244	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GACGAGGTTGTCCAGATCAAC	0.627000													33	29					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40766904	40766904	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:40766904C>T	ENST00000372748.3	-	32	2116	c.2020G>A	c.(2020-2022)Gcc>Acc	p.A674T		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	674	Nonhelical region 1 (NC1).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	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;2.08e-17)			GAGGCATAGGCCGAAGCTCCA	0.682000													24	27					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97136260	97136260	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:97136260C>T	ENST00000524981.3	+	19	2468	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F				Q6ZTY8	CL063_HUMAN		797										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GATCCTATTTCCCTAAATGCC	0.368000													5	11					0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139754527	139754527	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:139754527G>A	ENST00000263549.3	-	4	1670	c.797C>T	c.(796-798)aCt>aTt	p.T266I		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	266						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CTGGCTAAGAGTGTTTGGGGA	0.428000													58	48					0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84574020	84574020	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:84574020A>T	ENST00000369681.4	+	2	342	c.202A>T	c.(202-204)Aaa>Taa	p.K68*	CYB5R4_ENST00000369679.4_Nonsense_Mutation_p.K34*	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	68	Cytochrome b5 heme-binding.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ACACAACAAAAAAGATGATTG	0.343000													42	3					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229524	3229524	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:3229524C>T	ENST00000217939.6	-	7	6874	c.6720G>A	c.(6718-6720)atG>atA	p.M2240I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2240						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGCCGGTTTCATCACCACAT	0.522000													65	6					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150958816	150958816	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:150958816C>T	ENST00000368947.4	+	8	953	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	159					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCCAGATTTCCAGGTGGAGG	0.562000													35	64					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10097268	10097268	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:10097268G>A	ENST00000264828.3	-	29	2290	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	735	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGAAGCCTGGGAAGCCGTCCT	0.627000													41	76					0	0	1	0	0
ZNF138	7697	broad.mit.edu	37	7	64292300	64292300	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:64292300T>G	ENST00000359735.3	+	4	856	c.509T>G	c.(508-510)gTa>gGa	p.V170G	ZNF138_ENST00000397136.2_Missense_Mutation_p.V170G|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000437743.1_Missense_Mutation_p.V195G|ZNF138_ENST00000440155.2_Missense_Mutation_p.V201G|ZNF138_ENST00000307355.7_Missense_Mutation_p.V227G	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN	zinc finger protein 138	201					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				AAATGTGAAGTATGTGGAAAA	0.363000													50	35					0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25754382	25754382	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:25754382G>A	ENST00000406818.3	-	9	1210	c.961C>T	c.(961-963)Cct>Tct	p.P321S	DTNB_ENST00000407186.1_Missense_Mutation_p.P321S|DTNB_ENST00000407038.3_Missense_Mutation_p.P321S|DTNB_ENST00000407661.3_Missense_Mutation_p.P321S|DTNB_ENST00000496972.2_Missense_Mutation_p.P264S|DTNB_ENST00000545439.1_Missense_Mutation_p.P117S|DTNB_ENST00000288642.8_Missense_Mutation_p.P321S|DTNB_ENST00000404103.3_Missense_Mutation_p.P321S|DTNB_ENST00000405222.1_Missense_Mutation_p.P321S	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	321						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTTGCTCAGGAAAAACAGGA	0.468000													47	157					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88533604	88533604	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:88533604G>A	ENST00000399271.1	+	4	386	c.266G>A	c.(265-267)gGa>gAa	p.G89E	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.G89E	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	89					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GCAGAAGTAGGAGGGAAGAGT	0.463000													11	15					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36927268	36927268	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:36927268C>T	ENST00000310758.4	-	18	2258	c.1611G>A	c.(1609-1611)aaG>aaA	p.K537K	ELMO1_ENST00000341056.3_Silent_p.K239K|ELMO1_ENST00000396045.3_Silent_p.K57K|ELMO1_ENST00000396040.2_Silent_p.K57K|ELMO1_ENST00000442504.1_Silent_p.K537K|ELMO1_ENST00000448602.1_Silent_p.K537K	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	537					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAATCTTCTCCTTTAGTTCCC	0.512000													19	56					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74823685	74823685	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:74823685C>T	ENST00000256362.4	+	2	440	c.199C>T	c.(199-201)Cca>Tca	p.P67S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	67					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GAGCCTGTATCCAGAAGATGC	0.662000													38	36					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874099	48874099	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:48874099T>C	ENST00000394754.1	+	8	3122	c.3008T>C	c.(3007-3009)cTt>cCt	p.L1003P	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.L1003P|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.L299P|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.L1003P|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.L956P|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.L1003P|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.L265P|LHCGR_ENST00000420913.3_Intron	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		956					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTCATATTCTTAAAAATAGG	0.438000													22	18					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302143	128302143	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:128302143G>A	ENST00000262462.4	+	1	1323	c.313G>A	c.(313-315)Ggg>Agg	p.G105R	SLC27A6_ENST00000506176.1_Missense_Mutation_p.G105R|SLC27A6_ENST00000395266.1_Missense_Mutation_p.G105R			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	105					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCTGAAAAAGGGGGACACGGT	0.532000													23	13					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12278340	12278340	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:12278340T>A	ENST00000261349.4	-	21	4415	c.4339A>T	c.(4339-4341)Agc>Tgc	p.S1447C	LRP6_ENST00000543091.1_Missense_Mutation_p.S1402C|LRP6_ENST00000540415.1_5'UTR|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1447					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTGAGGGAGCTGATCATTGAT	0.408000													17	21					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282361	130282361	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:130282361G>A	ENST00000358511.6	+	2	545	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	COL6A6_ENST00000453409.2_Missense_Mutation_p.E172K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	172	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGCTTCTGAGGAAAACCTGAA	0.483000													19	24					0	0	1	0	0
MCMBP	79892	broad.mit.edu	37	10	121619309	121619309	+	Splice_Site	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:121619309A>G	ENST00000360003.3	-	2	314		c.e2+1		MCMBP_ENST00000369077.3_Splice_Site|MCMBP_ENST00000466047.1_Splice_Site	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						CAATAAGCTTACCCACTTAGG	0.348000													42	26					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72873955	72873955	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:72873955G>A	ENST00000339594.4	-	13	3681	c.3343C>T	c.(3343-3345)Ccc>Tcc	p.P1115S	BAZ1B_ENST00000404251.1_Missense_Mutation_p.P1115S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1115					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTTGCTTGGGAGCCATGAAG	0.398000													25	54					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66410038	66410038	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:66410038C>T	ENST00000404260.3	+	12	1899	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S	MAST4_ENST00000490016.2_Missense_Mutation_p.P339S|MAST4_ENST00000403666.1_Missense_Mutation_p.P339S|MAST4_ENST00000261569.7_Missense_Mutation_p.P334S|MAST4_ENST00000403625.2_Missense_Mutation_p.P528S|MAST4_ENST00000405643.1_Missense_Mutation_p.P349S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	531						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAATAAGGATCCCTTGGAAGG	0.453000													18	13					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100962942	100962942	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:100962942C>T	ENST00000193391.7	-	13	2420	c.2233G>A	c.(2233-2235)Gag>Aag	p.E745K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	745					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						TCCATATCCTCCCTTAGGATG	0.403000													67	61					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158284073	158284073	+	Silent	SNP	G	G	A	rs148321113		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:158284073G>A	ENST00000296526.7	+	15	2854	c.2529G>A	c.(2527-2529)gcG>gcA	p.A843A	GRIA2_ENST00000393815.2_Silent_p.A796A|GRIA2_ENST00000264426.9_Silent_p.A843A|GRIA2_ENST00000449365.1_Silent_p.A796A|GRIA2_ENST00000507898.1_Silent_p.A796A	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	843					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.A843A(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GGGCCGAGGCGAAACGAATGA	0.448000													28	47					0	0	1	0	0
GTSF1	121355	broad.mit.edu	37	12	54858877	54858877	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:54858877G>A	ENST00000552397.1	-	3	987	c.91C>T	c.(91-93)Cct>Tct	p.P31S	GTSF1_ENST00000552395.1_Intron|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.P31S			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	31							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				AGATGATAAGGAAACCTGCAA	0.408000													61	89					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34765945	34765945	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:34765945C>T	ENST00000338074.2	+	4	575	c.414C>T	c.(412-414)ttC>ttT	p.F138F	EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000373941.1_Silent_p.F138F|EPB41L1_ENST00000373946.3_Silent_p.F107F|EPB41L1_ENST00000441639.1_Silent_p.F76F|EPB41L1_ENST00000202028.5_Silent_p.F76F	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	138	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	p.F138F(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGGACTACTTCGGCCTGACCT	0.582000													40	33					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31864784	31864784	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:31864784G>A	ENST00000395728.3	-	1	195	c.196C>T	c.(196-198)Cct>Tct	p.P66S	EHMT2_ENST00000375537.4_Intron|EHMT2_ENST00000375528.4_Missense_Mutation_p.P66S|EHMT2_ENST00000375530.4_Intron			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	616					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGGAGACAAGGGACAGGAGGG	0.647000													50	36					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70587496	70587496	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:70587496G>A	ENST00000310961.5	+	27	4832	c.4414G>A	c.(4414-4416)Gaa>Aaa	p.E1472K	LRRC7_ENST00000035383.5_Missense_Mutation_p.E1514K|LRRC7_ENST00000415775.2_Missense_Mutation_p.E798K			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1514	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TATGGAACATGAAAAAGCTGT	0.318000													44	54					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5915236	5915236	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:5915236G>A	ENST00000356134.5	-	10	1034	c.963C>T	c.(961-963)gaC>gaT	p.D321D	ANO2_ENST00000327087.8_Silent_p.D320D|ANO2_ENST00000546188.1_Silent_p.D321D	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	325						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CATTCATATCGTCCTCTGGAC	0.478000													28	27					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73559139	73559139	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:73559139G>A	ENST00000392550.3	+	7	690	c.573G>A	c.(571-573)gtG>gtA	p.V191V	LLGL2_ENST00000375227.4_Silent_p.V191V|LLGL2_ENST00000578363.1_Silent_p.V191V|LLGL2_ENST00000167462.5_Silent_p.V191V|LLGL2_ENST00000577200.1_Silent_p.V191V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	191					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCGAGATGGTGGAGGCACTGC	0.672000													33	50					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139788237	139788237	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:139788237C>T	ENST00000303045.6	-	16	2221	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.R592Q	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	592	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCACCTCGTTCTCCTTG	0.493000										HNSCC(7;0.00092)			41	132					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2796204	2796204	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:2796204G>A	ENST00000520002.1	-	71	11156	c.10601C>T	c.(10600-10602)tCg>tTg	p.S3534L	CSMD1_ENST00000400186.3_Missense_Mutation_p.S3357L|CSMD1_ENST00000602557.1_Missense_Mutation_p.S3534L|CSMD1_ENST00000602723.1_Missense_Mutation_p.S3357L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S3356L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S3533L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3534						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTTTCAAACGATGCTTGTCC	0.413000													4	12					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702822	30702822	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:30702822T>C	ENST00000256246.2	-	1	3786	c.3712A>G	c.(3712-3714)Agt>Ggt	p.S1238G		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1238										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTATGCAACTTAAAGATACA	0.323000													14	20					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15760852	15760852	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:15760852C>T	ENST00000378076.3	-	2	609	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	86					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCACGATATCGGGCTGGCTG	0.577000													54	65					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	9000287	9000287	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:9000287C>G	ENST00000344836.4	-	13	1622	c.1424G>C	c.(1423-1425)gGc>gCc	p.G475A	USP7_ENST00000381886.4_Missense_Mutation_p.G459A|USP7_ENST00000535863.1_Missense_Mutation_p.G376A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	475					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTTACTTTGCCATCCCCTTT	0.463000													45	52					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151129262	151129262	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:151129262C>T	ENST00000474524.1	+	39	6040	c.6002C>T	c.(6001-6003)tCg>tTg	p.S2001L	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2001	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGCAGGCCTCGCCGTACCTG	0.517000													50	88					0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7024006	7024006	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:7024006C>T	ENST00000278314.4	-	2	376	c.61G>A	c.(61-63)Gat>Aat	p.D21N	ZNF214_ENST00000536068.1_Missense_Mutation_p.D21N|ZNF214_ENST00000531083.1_5'UTR	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TGAGAAGAATCCAGGAATTTC	0.388000													56	55					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31236830	31236830	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:31236830C>T	ENST00000251758.5	+	3	479	c.228C>T	c.(226-228)ctC>ctT	p.L76L	DDX11_ENST00000228264.6_Silent_p.L50L|DDX11_ENST00000407793.2_Silent_p.L76L|DDX11_ENST00000545668.1_Silent_p.L76L|DDX11_ENST00000350437.4_Silent_p.L76L|DDX11_ENST00000542838.1_Silent_p.L76L			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	76	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGGCACGACTCCTTGAAACTG	0.527000										Multiple Myeloma(12;0.14)			35	46					0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59225181	59225181	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:59225181C>T	ENST00000300127.2	+	1	771	c.748C>T	c.(748-750)Cac>Tac	p.H250Y		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GGTGACTCTTCACTTCGTGCC	0.542000													33	50					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77294802	77294802	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:77294802C>T	ENST00000216453.5	+	1	128	c.128C>T	c.(127-129)cCt>cTt	p.P43L	C14orf166B_ENST00000393774.3_Intron|C14orf166B_ENST00000450042.2_Intron|C14orf166B_ENST00000460005.1_3'UTR			Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	0										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GCAGCTTCTCCTCAGAAACTG	0.542000													33	44					0	0	1	0	0
OPTN	10133	broad.mit.edu	37	10	13151268	13151268	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:13151268C>T	ENST00000378748.3	+	4	508	c.146C>T	c.(145-147)aCc>aTc	p.T49I	OPTN_ENST00000263036.5_Missense_Mutation_p.T49I|OPTN_ENST00000378747.3_Missense_Mutation_p.T49I|OPTN_ENST00000378757.2_Missense_Mutation_p.T49I|OPTN_ENST00000482140.1_3'UTR|OPTN_ENST00000378764.2_Missense_Mutation_p.T49I|OPTN_ENST00000378752.3_Missense_Mutation_p.T49I	NM_001008211.1|NM_001008213.1	NP_001008212.1|NP_001008214.1	Q96CV9	OPTN_HUMAN	optineurin	49					cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GAGCTCCTGACCGAGAACCAC	0.597000													36	41					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47775473	47775473	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:47775473G>A	ENST00000359568.5	+	12	1975	c.1868G>A	c.(1867-1869)aGa>aAa	p.R623K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	623	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTCTCAGACAGATGCTGCGTA	0.627000													24	16					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86920218	86920218	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:86920218C>T	ENST00000376238.4	-	4	334	c.285G>A	c.(283-285)agG>agA	p.R95R	SLC28A3_ENST00000537648.1_Silent_p.R26R|SLC28A3_ENST00000495823.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	95					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTTGTGTTTCCTACAGAAAC	0.358000													88	58					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53652121	53652121	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:53652121G>C	ENST00000342160.3	-	17	2045	c.1588C>G	c.(1588-1590)Cat>Gat	p.H530D	HUWE1_ENST00000262854.6_Missense_Mutation_p.H530D|HUWE1_ENST00000218328.8_Missense_Mutation_p.H530D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	530					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAAATACCATGTCGTATGCCA	0.408000													5	67					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150556111	150556111	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:150556111G>A	ENST00000493429.1	+	5	2415	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	AOC1_ENST00000360937.4_Missense_Mutation_p.E611K|AOC1_ENST00000467291.1_Missense_Mutation_p.E611K|AOC1_ENST00000416793.2_Missense_Mutation_p.E611K|AOC1_ENST00000480582.1_3'UTR					amine oxidase, copper containing 1																		AGGCTGGCAGGAGGAGCAGGC	0.647000													12	7					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886947	3886947	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:3886947G>A	ENST00000319331.3	+	2	1383	c.622G>A	c.(622-624)Gat>Aat	p.D208N	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	208						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGGAATTCTGGATATGAACTT	0.413000													100	144					0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126060	19126060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:19126060C>T	ENST00000381440.3	+	1	807	c.277C>T	c.(277-279)Cga>Tga	p.R93*	CTD-2349B8.1_ENST00000564808.2_Missense_Mutation_p.P74L	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	93						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAGACACTTCCGAGAGCCGGG	0.662000													14	20					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255633	15255633	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:15255633C>T	ENST00000378116.4	-	8	1960	c.1954G>A	c.(1954-1956)Ggc>Agc	p.G652S		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	652						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCCCGGGTGCCCGCATCCTGC	0.622000													33	42					0	0	1	0	0
CISH	1154	broad.mit.edu	37	3	50645401	50645401	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:50645401G>A	ENST00000443053.2	-	4	692	c.465C>T	c.(463-465)ttC>ttT	p.F155F	CISH_ENST00000348721.3_Silent_p.F138F	NM_013324.5	NP_037456.5	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	138	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGTCCAGACGGAAGCTGGAGT	0.577000													30	38					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129748963	129748963	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:129748963C>T	ENST00000421865.2	+	41	5981	c.5932C>T	c.(5932-5934)Ctt>Ttt	p.L1978F		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1978	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTCAGGATTCTTAACGAAGC	0.373000													34	5					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131955676	131955676	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:131955676T>C	ENST00000286355.5	-	4	3366	c.1274A>G	c.(1273-1275)aAc>aGc	p.N425S	ADCY8_ENST00000377928.3_Missense_Mutation_p.N425S|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	425					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGTGGAGAGGTTGGTAAATCC	0.448000										HNSCC(32;0.087)			71	25					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42530894	42530894	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:42530894G>A	ENST00000282030.5	+	4	1885	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	530						nucleus	DNA binding	p.R530Q(1)|p.R476Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCTGCAAAACGAAGGTGGACT	0.527000									Schinzel-Giedion syndrome				46	80					0	0	1	0	0
C5orf46	389336	broad.mit.edu	37	5	147286014	147286014	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:147286014T>G	ENST00000515291.1	-	1	87	c.51A>C	c.(49-51)ttA>ttC	p.L17F	C5orf46_ENST00000318315.4_Missense_Mutation_p.L17F|C5orf46_ENST00000510432.1_5'UTR			Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	17						extracellular region				NS(1)|lung(1)|prostate(1)	3						AGGTCAGGAATAAGACAAGCA	0.458000													27	36					0	0	1	0	0
RPP25	54913	broad.mit.edu	37	15	75248389	75248389	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:75248389C>T	ENST00000322177.5	-	1	1416	c.536G>A	c.(535-537)gGa>gAa	p.G179E	RPP25_ENST00000499788.2_Missense_Mutation_p.G179E	NM_017793.2	NP_060263.2	Q9BUL9	RPP25_HUMAN	ribonuclease P/MRP 25kDa subunit	179					tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding			breast(1)|lung(1)	2						GGAGCCTTCTCCAGCTGCGGG	0.692000													4	6					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175306726	175306726	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:175306726C>T	ENST00000367674.1	-	19	4180	c.3472G>A	c.(3472-3474)Ggg>Agg	p.G1158R	TNR_ENST00000263525.2_Missense_Mutation_p.G1158R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1158	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTCAGCTCCCCATTGAGGAAG	0.527000													33	76					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62875522	62875522	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:62875522G>A	ENST00000253401.6	-	8	1952	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	ARHGEF9_ENST00000374870.4_Silent_p.F282F|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Silent_p.F382F|ARHGEF9_ENST00000433323.2_Silent_p.F111F|ARHGEF9_ENST00000437457.2_Silent_p.F331F|ARHGEF9_ENST00000374872.1_Silent_p.F363F	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	384	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TGCTGACATTGAAGTCATCAT	0.438000													70	1					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169571631	169571631	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:169571631C>T	ENST00000305747.6	+	7	1317	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F	CERS6_ENST00000392687.4_Missense_Mutation_p.L244F	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	244	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AGCTGATGCTCTTCTGGAGGT	0.388000													24	50					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43805088	43805088	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:43805088A>T	ENST00000372470.3	+	4	580	c.538A>T	c.(538-540)Act>Tct	p.T180S	MPL_ENST00000413998.2_Missense_Mutation_p.T180S	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	180	Fibronectin type-III 1.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAAGAACTCCACTGGTCCCAC	0.572000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						66	51					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55119985	55119985	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:55119985C>T	ENST00000370862.3	+	3	790	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	152					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CGCCTTGGATCGGTGGTATGC	0.453000													89	45					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2028154	2028154	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr16:2028154C>T	ENST00000568546.1	+	20	2195	c.2067C>T	c.(2065-2067)atC>atT	p.I689I		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	689					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CCACAGCCATCCGGAGGGACC	0.687000													28	43					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29917789	29917789	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:29917789G>A	ENST00000389048.3	-	3	1785	c.879C>T	c.(877-879)atC>atT	p.I293I	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	293	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCTCGGAGGGGATGCGGCGCC	0.602000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				144	71					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8999412	8999412	+	Missense_Mutation	SNP	C	C	T	rs145530122	by1000genomes	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:8999412C>T	ENST00000397910.4	-	56	40966	c.40763G>A	c.(40762-40764)aGg>aAg	p.R13588K	MUC16_ENST00000380951.5_Missense_Mutation_p.R229K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13590	SEA 10.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGACTGTCCCTGTCCAGGGT	0.572000													12	327					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71894516	71894516	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:71894516G>A	ENST00000258104.3	+	47	5488	c.5211G>A	c.(5209-5211)agG>agA	p.R1737R	DYSF_ENST00000409762.1_Silent_p.R1754R|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Silent_p.R1769R|DYSF_ENST00000413539.2_Silent_p.R1768R|DYSF_ENST00000410020.3_Silent_p.R1776R|DYSF_ENST00000429174.2_Silent_p.R1758R|DYSF_ENST00000409582.3_Silent_p.R1775R|DYSF_ENST00000410041.1_Silent_p.R1755R|DYSF_ENST00000409744.1_Silent_p.R1745R|DYSF_ENST00000409366.1_Silent_p.R1759R|DYSF_ENST00000394120.2_Silent_p.R1738R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1737						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGGCTGGCAGGATCCCAAACC	0.627000													64	96					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687228	158687228	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:158687228C>T	ENST00000368146.1	-	1	725	c.726G>A	c.(724-726)agG>agA	p.R242R	OR6K3_ENST00000368145.1_Silent_p.R226R			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AAGAGGGAATCCTCAATATCA	0.443000													34	54					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266801	48266801	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:48266801C>T	ENST00000302329.3	+	1	194	c.146C>T	c.(145-147)tCc>tTc	p.S49F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGCCTTGGTTCCCCCATGTAC	0.488000													42	60					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241983	87241983	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:87241983G>A	ENST00000297524.3	-	1	627	c.524C>T	c.(523-525)tCc>tTc	p.S175F	SLC7A13_ENST00000419776.2_Missense_Mutation_p.S175F|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	175						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TCCAGTTAGGGAAATGAAGCT	0.408000													44	157					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71029548	71029548	+	Silent	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:71029548T>C	ENST00000334414.6	-	2	398	c.354A>G	c.(352-354)gtA>gtG	p.V118V	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.V117V|PTPRB_ENST00000550358.1_Silent_p.V118V	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTTGACCACTACTCTGGAGC	0.483000													15	17					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628163	71628163	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:71628163G>A	ENST00000377276.2	-	1	876	c.846C>T	c.(844-846)ttC>ttT	p.F282F		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	282	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGAGGTTTCCGAAGCGCTTGG	0.567000													45	88					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529837	5529837	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:5529837C>T	ENST00000311659.4	-	2	1099	c.952G>A	c.(952-954)Gga>Aga	p.G318R	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	318										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGCCTTCCTTGCCTGCTA	0.498000													31	33					0	0	1	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41442052	41442052	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:41442052C>T	ENST00000599198.1	+	0	276					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GACCGAGGCCCGTGGTCATGC	0.577000													25	27					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148596481	148596481	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:148596481C>T	ENST00000296046.3	+	5	472	c.420C>T	c.(418-420)gtC>gtT	p.V140V	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	140					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.V140V(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTGAAATGGTCTCTCGTATTA	0.299000													35	52					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46830833	46830833	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:46830833C>T	ENST00000283296.7	-	15	2279	c.1990_splice	c.e15-1	p.G664_splice	GPR116_ENST00000265417.7_Splice_Site_p.G664_splice|GPR116_ENST00000456426.2_Splice_Site_p.G522_splice|GPR116_ENST00000362015.4_Splice_Site_p.G664_splice|GPR116_ENST00000545669.1_Splice_Site_p.G93_splice	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	664					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GATGTTTTCCCCTGTGTTGGA	0.453000													19	33					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474589	140474589	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140474589G>A	ENST00000194155.4	+	1	363	c.215G>A	c.(214-216)gGa>gAa	p.G72E		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		72	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTCCAAAGGAAAAAAAATG	0.522000													29	34					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212578363	212578363	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:212578363C>T	ENST00000342788.4	-	8	1204	c.894G>A	c.(892-894)gtG>gtA	p.V298V	ERBB4_ENST00000402597.1_Silent_p.V298V|ERBB4_ENST00000436443.1_Silent_p.V298V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	298	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGGAATCTACCACAAAGTTAT	0.333000										TSP Lung(8;0.080)			16	44					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66431951	66431951	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:66431951A>T	ENST00000383703.3	-	18	3256	c.2653T>A	c.(2653-2655)Tgg>Agg	p.W885R	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.W908R|SLC25A26_ENST00000536651.1_Intron			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	908						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ATCGCTTTCCACGGCTCTTTG	0.517000													50	60					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051485	38051485	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:38051485C>T	ENST00000261439.4	+	11	2231	c.1876C>T	c.(1876-1878)Cac>Tac	p.H626Y	TBC1D1_ENST00000508802.1_Missense_Mutation_p.H626Y	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	626						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TATGAGGTATCACTCAGTGAG	0.502000													56	45					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808425	18808425	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:18808425C>T	ENST00000400664.1	+	1	1002	c.950C>T	c.(949-951)cCa>cTa	p.P317L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	317						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGAGGTTCCATCCCCTAGG	0.647000													22	13					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21991060	21991060	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:21991060G>A	ENST00000327430.3	-	2	3096	c.2802C>T	c.(2800-2802)ccC>ccT	p.P934P	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Silent_p.P797P|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	934							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GCCCCTCCTTGGGGTGGGTCT	0.597000													29	40					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090870	238090870	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:238090870C>T	ENST00000450451.1	+	0	2376					NR_027247.2																						GCCCAATGGCCAGGTCATCAC	0.522000													3	11					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531002	42531002	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:42531002C>T	ENST00000282030.5	+	4	1993	c.1697C>T	c.(1696-1698)cCa>cTa	p.P566L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	566						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCATCACCCCATCCAGCCCT	0.522000									Schinzel-Giedion syndrome				98	124					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43427124	43427124	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:43427124C>T	ENST00000039989.4	+	12	1554	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S	TTC17_ENST00000299240.6_Missense_Mutation_p.P514S|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	514							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CCCTAGAGTCCCTGTTGGTGG	0.413000													84	99					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140264224	140264224	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:140264224G>A	ENST00000289272.2	+	1	2371	c.2371G>A	c.(2371-2373)Gag>Aag	p.E791K	PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E791K|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGAGGGAGGAGGACTCAGA	0.483000													10	25					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227942727	227942727	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:227942727C>T	ENST00000396625.3	-	25	2077	c.1870G>A	c.(1870-1872)Gca>Aca	p.A624T	COL4A4_ENST00000329662.7_Missense_Mutation_p.A624T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	624	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACAGGTCCTGCTTTGCCTGGG	0.607000													14	10					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130284200	130284200	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:130284200C>T	ENST00000358511.6	+	3	1055	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.R342*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	342	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGTGACCCACCGAGATTCAGA	0.557000													116	143					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43172526	43172526	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:43172526G>A	ENST00000522175.2	+	0	869							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACATAAATAAGGATTGCGATA	0.318000													32	46					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35770939	35770939	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:35770939T>C	ENST00000187397.4	+	15	1826	c.1370T>C	c.(1369-1371)gTt>gCt	p.V457A	ARPP21_ENST00000458225.1_Missense_Mutation_p.V423A|ARPP21_ENST00000444190.1_Missense_Mutation_p.V403A|ARPP21_ENST00000337271.5_Missense_Mutation_p.V403A|ARPP21_ENST00000417925.1_Missense_Mutation_p.V423A	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	457						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGGGGCCAGGTTGCTCCCAGC	0.567000													42	57					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	63685335	63685335	+	Splice_Site	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:63685335A>G	ENST00000392769.2	-	24	2827	c.2607_splice	c.e24-1	p.V870_splice	CEP112_ENST00000535342.2_Splice_Site_p.V870_splice|CEP112_ENST00000541355.1_Splice_Site_p.V434_splice|CEP112_ENST00000537949.1_Splice_Site_p.V828_splice|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000317442.8_Splice_Site_p.V126_splice	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	870						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						ATCTTGTAAAACCTGAAACGG	0.363000													39	21					0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48575961	48575961	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:48575961G>A	ENST00000232375.3	-	7	714	c.602C>T	c.(601-603)tCc>tTc	p.S201F	PFKFB4_ENST00000383734.2_Missense_Mutation_p.S201F|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.S167F|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000536104.1_Missense_Mutation_p.S190F|PFKFB4_ENST00000416568.1_Missense_Mutation_p.S201F	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	201	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CGACTCGTAGGAGTTCTCATA	0.592000													43	45					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52534331	52534331	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:52534331G>A	ENST00000261839.7	-	20	2631	c.2470C>T	c.(2470-2472)Cgc>Tgc	p.R824C	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	824	IQ 3.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TACAGGCTGCGAACAAGATAC	0.507000													130	178					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121469308	121469308	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:121469308G>A	ENST00000257570.5	-	3	864	c.594C>T	c.(592-594)ttC>ttT	p.F198F	OASL_ENST00000339275.5_Silent_p.F198F	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	198					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGTTTCACGAAATTTCTCT	0.587000													30	55					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114288914	114288914	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:114288914C>T	ENST00000357077.4	+	42	11278	c.11225C>T	c.(11224-11226)cCc>cTc	p.P3742L	ANK2_ENST00000264366.6_Missense_Mutation_p.P3709L|ANK2_ENST00000510275.2_Missense_Mutation_p.P309L|ANK2_ENST00000394537.3_Missense_Mutation_p.P1657L|ANK2_ENST00000506722.1_Missense_Mutation_p.P1648L|ANK2_ENST00000509550.1_Missense_Mutation_p.P833L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3709					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCACTCTTTCCCCAAACTCAC	0.468000													65	104					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215259862	215259862	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:215259862C>T	ENST00000444842.2	+	2	348	c.198C>T	c.(196-198)ttC>ttT	p.F66F	KCNK2_ENST00000391894.2_Silent_p.F51F|KCNK2_ENST00000391895.2_Silent_p.F62F	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	66							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CCACGATATTCCTGGTGGTTG	0.507000													43	20					0	0	1	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390521	52390521	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:52390521C>T	ENST00000443374.1	+	0	1214																											TCAATTCATCCTGTAACTGCT	0.453000													21	23					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54823320	54823320	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:54823320C>T	ENST00000301219.3	-	4	342	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Missense_Mutation_p.E75K|LILRA5_ENST00000446712.3_Missense_Mutation_p.E63K|LILRA5_ENST00000346508.3_Missense_Mutation_p.E63K	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	75	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGACGGTATTCCTGGGCCTCC	0.592000													70	55					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299751	158299751	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:158299751G>A	ENST00000368168.3	-	3	605	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	166					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GATATTGTATGATTAGTGCAC	0.483000													81	56					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801052	185801052	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:185801052C>T	ENST00000302277.6	+	4	1523	c.929C>T	c.(928-930)tCa>tTa	p.S310L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	310						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTATTACCTTCATTTTGCAAG	0.338000													29	21					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143957220	143957220	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:143957220C>T	ENST00000292427.4	-	6	1061	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	CYP11B1_ENST00000377675.3_Silent_p.E414E|CYP11B1_ENST00000517471.1_Silent_p.E343E	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	343					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CGGCCAGGCTCTCCTGGCGCA	0.647000									Familial Hyperaldosteronism type I				83	231					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55817708	55817708	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:55817708C>T	ENST00000309383.1	+	17	2256	c.1979C>T	c.(1978-1980)cCc>cTc	p.P660L	BRSK1_ENST00000326848.7_Missense_Mutation_p.P355L|BRSK1_ENST00000590333.1_Missense_Mutation_p.P676L	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	660					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TTCCAAAAGCCCGTCCGCTTC	0.637000													35	53					0	0	1	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17962568	17962568	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:17962568C>T	ENST00000458468.1	+	0	579				MIR125B2_ENST00000385128.1_RNA	NR_027790.1																						CCAGACTTTTCCTAGTCCCTG	0.418000													17	20					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75827197	75827197	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:75827197T>G	ENST00000322507.8	-	47	7729	c.7420A>C	c.(7420-7422)Aaa>Caa	p.K2474Q	COL12A1_ENST00000416123.2_Missense_Mutation_p.K2474Q|COL12A1_ENST00000483888.2_Missense_Mutation_p.K2474Q|COL12A1_ENST00000345356.6_Missense_Mutation_p.K1310Q	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2474	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCACTTGGTTTGCTGGCAATG	0.413000													51	7					0	0	1	0	0
MYOD1	4654	broad.mit.edu	37	11	17741748	17741748	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:17741748C>T	ENST00000250003.3	+	1	634	c.419C>T	c.(418-420)cCa>cTa	p.P140L		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	140	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						TCGAGCAATCCAAACCAGCGG	0.662000													21	17					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442021	145442021	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:145442021C>T	ENST00000511217.1	+	9	1999	c.1947C>T	c.(1945-1947)agC>agT	p.S649S	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.S649S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	649							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAATTACAGCCCTCCTCCCA	0.552000													60	82					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1842969	1842969	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:1842969C>T	ENST00000399161.2	-	21	3779	c.3032G>A	c.(3031-3033)gGa>gAa	p.G1011E	MYT1L_ENST00000428368.2_Missense_Mutation_p.G1009E|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_Missense_Mutation_p.G7E	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1011					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCCGTCGCATCCTGGCGTGGG	0.667000													27	53					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31382861	31382861	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:31382861C>T	ENST00000355683.5	-	8	1206	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	STRN3_ENST00000357479.5_Missense_Mutation_p.E415K|STRN3_ENST00000366206.2_Intron	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	331					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GTTATTGGTTCAGCTATAAAG	0.373000													75	92					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35921605	35921605	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:35921605T>A	ENST00000339208.6	-	12	1708	c.1568A>T	c.(1567-1569)gAc>gTc	p.D523V	SYNRG_ENST00000346661.4_Missense_Mutation_p.D523V|SYNRG_ENST00000345615.4_Missense_Mutation_p.D445V|SYNRG_ENST00000591288.1_Missense_Mutation_p.D362V|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000394378.2_Missense_Mutation_p.D445V|SYNRG_ENST00000502449.2_Missense_Mutation_p.D445V|SYNRG_ENST00000585472.1_Missense_Mutation_p.D444V	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	523	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAGGACTTGTCAGCTGCAAT	0.358000													39	48					0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129851287	129851287	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:129851287G>A	ENST00000373425.3	-	5	2030	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Silent_p.F169F|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373434.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	471	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AGCCTCCTCGGAACTCAGCCC	0.602000													75	220					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142654936	142654936	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:142654936G>A	ENST00000355265.2	-	6	1124	c.650C>T	c.(649-651)tCt>tTt	p.S217F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	217					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGTGTGTGGAGAGGCAGGATG	0.507000													46	123					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780794	37780794	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:37780794G>A	ENST00000447769.1	+	4	1088	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.E267K|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	267						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTTTATAACGAAATCTTCTT	0.383000													83	53					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49218740	49218740	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:49218740C>T	ENST00000327979.2	-	13	1927	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	FAM65C_ENST00000045083.2_Missense_Mutation_p.E506K|FAM65C_ENST00000535356.1_Missense_Mutation_p.E510K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	506										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCCCGTCCTCTCTGTCCCCG	0.697000													14	9					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47308072	47308072	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:47308072C>T	ENST00000342922.4	+	15	2997	c.2640C>T	c.(2638-2640)ttC>ttT	p.F880F	MADD_ENST00000407859.3_Silent_p.F837F|MADD_ENST00000406482.1_Silent_p.F837F|MADD_ENST00000402799.1_Silent_p.F837F|MADD_ENST00000402192.2_Silent_p.F880F|MADD_ENST00000395336.3_Silent_p.F880F|MADD_ENST00000395344.3_Silent_p.F837F|MADD_ENST00000311027.5_Silent_p.F880F|MADD_ENST00000349238.3_Silent_p.F880F	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	880					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCACGCCCTTCCCCAGTCTGA	0.557000													46	52					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121358887	121358887	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:121358887C>T	ENST00000260197.7	+	4	804	c.675C>T	c.(673-675)tcC>tcT	p.S225S	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	225					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTGACAGGTCCCACCCCAACA	0.522000													42	3					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084930	9084930	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:9084930C>T	ENST00000397910.4	-	1	7088	c.6885G>A	c.(6883-6885)tgG>tgA	p.W2295*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2295	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAACTCATCCAATCCCCAG	0.468000													22	15					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215809822	215809822	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:215809822G>A	ENST00000272895.7	-	49	7465	c.7246C>T	c.(7246-7248)Ccg>Tcg	p.P2416S	ABCA12_ENST00000389661.4_Missense_Mutation_p.P2098S|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2416	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCAGAGCTCGGCTCATCCTTA	0.373000													34	15					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50519332	50519332	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:50519332G>A	ENST00000267842.5	+	7	1646	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	SLC27A2_ENST00000380902.4_Missense_Mutation_p.E419K|SLC27A2_ENST00000544960.1_Missense_Mutation_p.E237K	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	472					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GGTTGACCATGAAAATTTCAT	0.403000													33	50					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173734779	173734779	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:173734779G>A	ENST00000506823.1	+	7	1485	c.828G>A	c.(826-828)ggG>ggA	p.G276G	GALNTL6_ENST00000508122.1_Silent_p.G259G	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	276						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CACAAGCTGGGGATGCCATGC	0.498000													61	65					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66883624	66883624	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:66883624C>T	ENST00000269080.2	-	23	3185	c.3048G>A	c.(3046-3048)cgG>cgA	p.R1016R	ABCA8_ENST00000586539.1_Silent_p.R1056R|ABCA8_ENST00000430352.2_Silent_p.R1056R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1016						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GTCCGGAAATCCGTAGCTGGG	0.423000													150	119					0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93483112	93483112	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:93483112G>A	ENST00000267615.6	-	4	328	c.155C>T	c.(154-156)cCc>cTc	p.P52L	ITPK1_ENST00000555495.1_5'UTR|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Missense_Mutation_p.P52L|ITPK1_ENST00000556603.2_Missense_Mutation_p.P52L			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	52					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GACGTCCAGGGGGCCCTGCTC	0.577000													32	48					0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159273	152159273	+	Silent	SNP	T	T	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:152159273T>C	ENST00000439251.1	-	2	1308	c.870A>G	c.(868-870)aaA>aaG	p.K290K	PNMA5_ENST00000452693.1_Silent_p.K290K|PNMA5_ENST00000361887.5_Silent_p.K290K|PNMA5_ENST00000535214.1_Silent_p.K290K	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	290					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTAAGAGATGTTTCAGACGAA	0.562000													30	2					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615721	179615721	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:179615721G>A	ENST00000360870.5	-	46	11628	c.11406C>T	c.(11404-11406)ttC>ttT	p.F3802F	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9639							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)			TTTCAGTCTGGAAAATTTCTT	0.343000													87	70					0	0	1	0	0
TRGV5	6978	broad.mit.edu	37	7	38389397	38389397	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:38389397G>A	ENST00000390344.2	-	0	226																											AGACAGGAAAGCTAGAAGCAC	0.522000													18	54					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39872825	39872825	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:39872825G>A	ENST00000502986.2	+	11	1209	c.967G>A	c.(967-969)Gac>Aac	p.D323N	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Missense_Mutation_p.D310N	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	310					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CTTCATAGAAGACATCCACTC	0.493000													30	42					0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18152407	18152407	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:18152407C>T	ENST00000375406.1	+	3	710	c.494C>T	c.(493-495)cCc>cTc	p.P165L		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	165						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CAGGGCCGCCCCTTGCCCGCC	0.617000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	21					0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899458	156899458	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:156899458G>A	ENST00000311946.7	+	6	1007	c.891G>A	c.(889-891)ggG>ggA	p.G297G	NIPAL4_ENST00000435489.2_Silent_p.G278G|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	297			G -> R (in ARCII).			integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CTGTGATCGGGGCCTTCTCTG	0.557000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	77	115					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3000147	3000147	+	Silent	SNP	G	G	A	rs112571277	by1000genomes	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:3000147G>A	ENST00000520002.1	-	42	6639	c.6084C>T	c.(6082-6084)ttC>ttT	p.F2028F	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Silent_p.F2028F|CSMD1_ENST00000539096.1_Silent_p.F2027F|CSMD1_ENST00000602557.1_Silent_p.F2028F|CSMD1_ENST00000602723.1_Silent_p.F2028F|CSMD1_ENST00000542608.1_Silent_p.F2027F|CSMD1_ENST00000537824.1_Silent_p.F2027F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2028	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAATTTCAAGGAAGTCATGAT	0.418000													53	61					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85436750	85436750	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:85436750C>T	ENST00000359152.5	-	1	2321	c.2322G>A	c.(2320-2322)ctG>ctA	p.L774L	SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Silent_p.L250L|SYTL2_ENST00000525423.1_Silent_p.L250L|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	286					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTGCTTCCTTCAGGAGTTTGT	0.443000													60	77					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13923485	13923485	+	Silent	SNP	G	G	A	rs145920072	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:13923485G>A	ENST00000265104.4	-	4	446	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	114	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTCGGTCACGAACACCTTAG	0.433000									Kartagener syndrome				30	53					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21250981	21250981	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:21250981G>A	ENST00000298925.5	+	15	1767	c.1614G>A	c.(1612-1614)ggG>ggA	p.G538G	NELL1_ENST00000357134.5_Silent_p.G510G|NELL1_ENST00000532434.1_Silent_p.G510G|NELL1_ENST00000325319.5_Silent_p.G453G			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	510	EGF-like 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GCTACGTGGGGAACGGGACCA	0.577000													31	60					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119031008	119031008	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:119031008C>T	ENST00000307417.3	+	13	1873	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	ABCG4_ENST00000449422.2_Silent_p.F503F|ABCG4_ENST00000531739.1_Silent_p.F503F	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	503	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCAGCCGCTTCCTGCTCTTCT	0.652000													40	5					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196756491	196756491	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:196756491A>G	ENST00000312428.6	-	31	5034	c.4934T>C	c.(4933-4935)tTa>tCa	p.L1645S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1645	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTAGGATTTAAAACAGTTAT	0.343000													30	38					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40135944	40135944	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:40135944G>A	ENST00000278198.2	-	2	3862	c.1899C>T	c.(1897-1899)gaC>gaT	p.D633D	LRRC4C_ENST00000527150.1_Silent_p.D633D|LRRC4C_ENST00000528697.1_Silent_p.D633D|LRRC4C_ENST00000530763.1_Silent_p.D633D			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	633					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTTGTACATTGTCTTTAGAGT	0.318000													20	28					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368966	86368966	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:86368966G>A	ENST00000400286.2	-	2	2276	c.1678C>T	c.(1678-1680)Cta>Tta	p.L560L		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	560	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCACTATTTAGGGCTTTCAAT	0.433000													39	41					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515170	47515170	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:47515170G>A	ENST00000371901.3	+	11	1599	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	CYP4X1_ENST00000538609.1_Missense_Mutation_p.G449E	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	450						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTCTCAGCTGGATCAAGGTGA	0.438000													37	61					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168319418	168319418	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:168319418C>T	ENST00000366806.2	+	20	2834	c.2692C>T	c.(2692-2694)Ctt>Ttt	p.L898F	MLLT4_ENST00000400822.3_Missense_Mutation_p.L897F|MLLT4_ENST00000392108.3_Missense_Mutation_p.L898F|MLLT4_ENST00000392112.1_Missense_Mutation_p.L882F|MLLT4_ENST00000351017.4_Missense_Mutation_p.L905F|MLLT4_ENST00000447894.2_Missense_Mutation_p.L898F|MLLT4_ENST00000344191.4_Missense_Mutation_p.L898F			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	898	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAAACAGGATCTTATAGAAAA	0.478000			T	MLL	AL								18	6					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410433	159410433	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:159410433G>A	ENST00000423932.3	+	1	922	c.885G>A	c.(883-885)ctG>ctA	p.L295L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	295					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CTCCCCTACTGAACCCTGTGG	0.507000													107	59					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136748	40136748	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:40136748G>A	ENST00000278198.2	-	2	3058	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V	LRRC4C_ENST00000527150.1_Silent_p.V365V|LRRC4C_ENST00000528697.1_Silent_p.V365V|LRRC4C_ENST00000530763.1_Silent_p.V365V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	365	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGCCTTCAGTGACATTGAGGT	0.517000													35	48					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87666250	87666250	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:87666250G>A	ENST00000320005.5	-	7	940	c.893C>T	c.(892-894)aCa>aTa	p.T298I		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	298			T -> P (in dbSNP:rs4961206).		signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGAAATTTTGTAGAAGTCCT	0.299000													25	137					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802465	185802465	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:185802465C>T	ENST00000302277.6	+	4	2936	c.2342C>T	c.(2341-2343)tCa>tTa	p.S781L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	781						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCTTATTCTTCAGATGAAAGT	0.373000													45	28					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109365066	109365066	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:109365066C>T	ENST00000356711.2	+	3	410	c.284C>T	c.(283-285)tCc>tTc	p.S95F	MYO16_ENST00000251041.5_Missense_Mutation_p.S95F|MYO16_ENST00000357550.2_Missense_Mutation_p.S95F	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	95					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCGGGAGGGTCCCTGCTCCAT	0.562000													55	53					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149512350	149512350	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:149512350C>T	ENST00000261799.4	-	7	1559	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	364	Ig-like C2-type 4.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGGCGATTTCGCCAGCGCTG	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								16	9					0	0	1	0	0
IGLV3-32	28787	broad.mit.edu	37	22	22937427	22937427	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:22937427C>T	ENST00000390303.2	+	0	284																											TTCTCTGGCTCCAAATCAGGC	0.537000											OREG0026367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	33					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600284	92600284	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:92600284G>A	ENST00000298047.6	+	21	12053	c.12036G>A	c.(12034-12036)acG>acA	p.T4012T	FAT3_ENST00000533797.1_Silent_p.T347T|FAT3_ENST00000525166.1_Silent_p.T3862T|FAT3_ENST00000409404.2_Silent_p.T4012T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4012	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGGCCTGACGGAGCTGAAGC	0.657000										TCGA Ovarian(4;0.039)			6	5					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996304	140996304	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:140996304G>A	ENST00000285879.4	+	4	3400	c.3114G>A	c.(3112-3114)ggG>ggA	p.G1038G	MAGEC1_ENST00000406005.2_Silent_p.G105G	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1038	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCTTTGGGGAGCCCAGGG	0.547000										HNSCC(15;0.026)			46	2					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566477	4566477	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:4566477C>T	ENST00000360213.1	+	1	57	c.57C>T	c.(55-57)atC>atT	p.I19I		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCACTGGCATCCCAGGGCTGG	0.522000													40	60					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189586470	189586470	+	Missense_Mutation	SNP	C	C	T	rs147148566		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:189586470C>T	ENST00000264731.3	+	8	1183	c.1094C>T	c.(1093-1095)tCg>tTg	p.S365L	TP63_ENST00000392461.3_Missense_Mutation_p.S271L|TP63_ENST00000320472.5_Missense_Mutation_p.S365L|TP63_ENST00000382063.4_Missense_Mutation_p.S280L|TP63_ENST00000440651.2_Missense_Mutation_p.S365L|TP63_ENST00000392463.2_Missense_Mutation_p.S271L|TP63_ENST00000392460.3_Missense_Mutation_p.S365L|TP63_ENST00000437221.1_Missense_Mutation_p.S271L|TP63_ENST00000449992.1_Missense_Mutation_p.S186L|TP63_ENST00000354600.5_Missense_Mutation_p.S271L|TP63_ENST00000456148.1_Missense_Mutation_p.S271L|TP63_ENST00000418709.2_Missense_Mutation_p.S365L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	365	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S365L(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAGCAAGTTTCGGACAGTACA	0.537000										HNSCC(45;0.13)			58	72					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450620	41450620	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:41450620C>T	ENST00000400454.1	-	26	5182	c.4705G>A	c.(4705-4707)Gat>Aat	p.D1569N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1569					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.D1569N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTACTGCCATCGTAGTTCAGC	0.582000													30	43					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24656302	24656302	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:24656302G>A	ENST00000354464.6	-	7	819	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	215					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCATCTATGGGGATCAGAGTC	0.552000													188	260					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37949081	37949081	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:37949081G>A	ENST00000346872.3	-	4	330	c.269C>T	c.(268-270)tCa>tTa	p.S90L	IKZF3_ENST00000377945.3_Missense_Mutation_p.S90L|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000439016.2_Missense_Mutation_p.S90L|IKZF3_ENST00000439167.2_Missense_Mutation_p.S56L|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000346243.3_Missense_Mutation_p.S90L|IKZF3_ENST00000467757.1_Missense_Mutation_p.S90L|IKZF3_ENST00000350532.3_Missense_Mutation_p.S90L|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000351680.3_Missense_Mutation_p.S90L|IKZF3_ENST00000535189.1_Missense_Mutation_p.S56L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	90					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATATTCTCTTGAATAGCTGTA	0.378000													22	38					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206659623	206659623	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:206659623G>A	ENST00000360409.3	+	17	3428	c.2637G>A	c.(2635-2637)ctG>ctA	p.L879L	NRP2_ENST00000540178.1_Silent_p.L874L|NRP2_ENST00000357785.5_Silent_p.L874L|NRP2_ENST00000540841.1_Silent_p.L857L|NRP2_ENST00000412873.2_Silent_p.L857L	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	879					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GCGTCCTCCTGGGGGCCACCT	0.607000													92	57					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54605663	54605663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:54605663G>A	ENST00000371330.1	-	4	1727	c.880C>T	c.(880-882)Cag>Tag	p.Q294*		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	294	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						ACCTTGACCTGGTAGCCCGGG	0.622000													29	38					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52336291	52336291	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:52336291C>T	ENST00000356297.4	-	14	1739	c.1638_splice	c.e14-1	p.E547_splice	PXDNL_ENST00000543296.1_Splice_Site_p.E547_splice	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	547	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGCACACCTTCCTAGGGAGCA	0.398000													16	17					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95950777	95950777	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:95950777C>T	ENST00000317620.9	+	15	1922	c.1789C>T	c.(1789-1791)Ctg>Ttg	p.L597L	PROM2_ENST00000542147.1_Intron|PROM2_ENST00000317668.4_Silent_p.L597L|PROM2_ENST00000403131.2_Silent_p.L597L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	597						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAGCCTGGACCTGCTGAGCTC	0.632000													10	18					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169699695	169699695	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:169699695C>T	ENST00000333360.7	-	5	732	c.593G>A	c.(592-594)gGa>gAa	p.G198E	SELE_ENST00000367779.4_Missense_Mutation_p.G198E|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Missense_Mutation_p.G198E|SELE_ENST00000367776.1_Missense_Mutation_p.G198E|SELE_ENST00000367781.4_Missense_Mutation_p.G198E|SELE_ENST00000367777.1_Missense_Mutation_p.G198E|SELE_ENST00000367775.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.G198E|SELE_ENST00000367780.4_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	198	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GCTGAAGTTTCCCAGTGGGTG	0.493000													82	38					0	0	1	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95109850	95109850	+	RNA	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:95109850G>A	ENST00000469935.1	+	0	887					NR_015340.1																						CAGCCCAAAGGAGTTCTTTGT	0.582000													23	28					0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36018734	36018734	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:36018734C>T	ENST00000452271.2	-	1	478	c.450G>A	c.(448-450)ggG>ggA	p.G150G	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	149	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCCAAACTTCCCTGCCTCAC	0.607000													67	54					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96447651	96447651	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:96447651G>A	ENST00000285979.6	+	2	492	c.293G>A	c.(292-294)gGa>gAa	p.G98E	CYP2C18_ENST00000339022.5_Missense_Mutation_p.G98E	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TCTGGAAGAGGAAGTTTTCCA	0.443000													68	87					0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27945309	27945309	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr21:27945309G>A	ENST00000435845.2	-	1	294	c.275C>T	c.(274-276)cCt>cTt	p.P92L	CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR			Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	133						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						CGGAACCGGAGGGAATGGGGA	0.652000													11	10					0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148947559	148947559	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:148947559G>A	ENST00000335870.2	+	2	462	c.334G>A	c.(334-336)Gag>Aag	p.E112K		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GAGGCGGCTGGAGAACGTGGA	0.632000													56	189					0	0	1	0	0
LGI4	163175	broad.mit.edu	37	19	35617890	35617890	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:35617890C>T	ENST00000392225.3	-	7	1179	c.660G>A	c.(658-660)tcG>tcA	p.S220S	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000310123.3_Silent_p.S220S			Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	220						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CGCTCAGTGCCGACTCCCCCA	0.632000													35	64					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831649	7831649	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:7831649G>A	ENST00000327325.5	+	5	1010	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	CLEC4M_ENST00000596707.1_Missense_Mutation_p.E231K|CLEC4M_ENST00000359059.5_Missense_Mutation_p.E231K|CLEC4M_ENST00000596363.1_Missense_Mutation_p.E270K|CLEC4M_ENST00000334806.5_Missense_Mutation_p.E247K|CLEC4M_ENST00000248228.4_Missense_Mutation_p.E276K|CLEC4M_ENST00000357361.2_Missense_Mutation_p.E298K|CLEC4M_ENST00000597522.1_Missense_Mutation_p.E206K|CLEC4M_ENST00000394122.2_Missense_Mutation_p.E286K|CLEC4M_ENST00000595496.1_Missense_Mutation_p.E162K	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	298	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CGCCTGCCAGGAAGTGAGGGC	0.597000													44	64					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87645092	87645092	+	Missense_Mutation	SNP	C	C	T	rs147876778	byFrequency	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:87645092C>T	ENST00000320005.5	-	11	1255	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	403			R -> Q (in macular degeneration).		signal transduction|visual perception	integral to membrane	cGMP binding	p.R403P(1)|p.R403L(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AATTAAAGTTCGAACTGCCCA	0.328000													19	95					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50151440	50151440	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:50151440A>G	ENST00000347869.3	+	19	1850	c.1675A>G	c.(1675-1677)Aaa>Gaa	p.K559E		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	559	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGAAAACTTTAAAAATAGCTT	0.393000													19	21					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55085872	55085872	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:55085872C>T	ENST00000251377.3	+	4	308	c.175C>T	c.(175-177)Cat>Tat	p.H59Y	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Missense_Mutation_p.H59Y|LILRA2_ENST00000391737.1_Missense_Mutation_p.H47Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.H59Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGAGGAGTACCATCTATATAG	0.567000													28	36					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672701	10672701	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:10672701G>A	ENST00000302079.6	-	50	7802	c.7803C>T	c.(7801-7803)ttC>ttT	p.F2601F	PIEZO2_ENST00000503781.3_Silent_p.F2664F|PIEZO2_ENST00000580640.1_Silent_p.F2689F|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000538948.1_Silent_p.F621F|PIEZO2_ENST00000285141.4_Silent_p.F456F			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2664						integral to membrane	ion channel activity										AGCCAGCCAGGAACCCCAGAC	0.453000													77	87					0	0	1	0	0
HMSD	284293	broad.mit.edu	37	18	61627562	61627562	+	Silent	SNP	C	C	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:61627562C>A	ENST00000408945.3	+	4	595	c.393C>A	c.(391-393)gtC>gtA	p.V131V	HMSD_ENST00000481726.1_Intron	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	131						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						GTTTTATAGTCAGTTCTTTAC	0.299000													6	8					0.0293803	0.0294701	1	1	0
SLC2A5	6518	broad.mit.edu	37	1	9099904	9099904	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:9099904G>A	ENST00000377424.4	-	7	1019	c.840C>T	c.(838-840)tcC>tcT	p.S280S	SLC2A5_ENST00000535586.1_Silent_p.S165S|SLC2A5_ENST00000536305.1_Silent_p.S221S	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	280					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGACGATGATGGACAGCAGCT	0.706000													7	8					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79219619	79219619	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:79219619C>T	ENST00000374759.3	-	16	3480	c.3097G>A	c.(3097-3099)Gac>Aac	p.D1033N		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1033					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTGGCATTGTCCGGCCTCTGG	0.706000													27	15					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106668	168106668	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:168106668G>A	ENST00000409195.1	+	9	8855	c.8766G>A	c.(8764-8766)caG>caA	p.Q2922Q	XIRP2_ENST00000409273.1_Silent_p.Q2700Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Q2922Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2747					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGATTACACAGAACAAATCTT	0.373000													27	76					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060523	46060523	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:46060523C>T	ENST00000295452.4	-	6	909	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	248					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGAGTGATTTCAGTTGAGTTC	0.328000													32	41					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38601889	38601889	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:38601889G>A	ENST00000413689.1	-	23	4187	c.3994C>T	c.(3994-3996)Ccg>Tcg	p.P1332S	SCN5A_ENST00000333535.4_Missense_Mutation_p.P1332S|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1278S|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1278S|SCN5A_ENST00000423572.2_Missense_Mutation_p.P1331S|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1332S|SCN5A_ENST00000443581.1_Missense_Mutation_p.P1331S|SCN5A_ENST00000455624.2_Missense_Mutation_p.P1331S|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1278S|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1332S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1332			P -> L (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATGATGGACGGGATGGCGCCC	0.577000													24	46					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31526402	31526402	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:31526402G>A	ENST00000511367.2	-	4	882	c.638C>T	c.(637-639)cCa>cTa	p.P213L	DROSHA_ENST00000442743.1_Missense_Mutation_p.P213L|DROSHA_ENST00000344624.3_Missense_Mutation_p.P213L|DROSHA_ENST00000513349.1_Missense_Mutation_p.P213L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	213					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGGAGCCTTTGGGAGTGGGTA	0.512000													23	31					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348764	150348764	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:150348764C>T	ENST00000218316.3	+	2	778	c.709C>T	c.(709-711)Cta>Tta	p.L237L		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	237					cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.L237L(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TCGCAATTTTCTAACCATGTT	0.542000													54	3					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8338946	8338946	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:8338946C>T	ENST00000381196.4	-	40	5898	c.5355G>A	c.(5353-5355)agG>agA	p.R1785R	PTPRD_ENST00000397611.3_Silent_p.R1375R|PTPRD_ENST00000360074.4_Silent_p.R1772R|PTPRD_ENST00000358503.5_Silent_p.R1763R|PTPRD_ENST00000355233.5_Silent_p.R1379R|PTPRD_ENST00000356435.5_Silent_p.R1785R|PTPRD_ENST00000486161.1_Silent_p.R1378R|PTPRD_ENST00000397606.3_Silent_p.R1378R|PTPRD_ENST00000397617.3_Silent_p.R1378R|PTPRD_ENST00000540109.1_Silent_p.R1785R|PTPRD_ENST00000537002.1_Silent_p.R1375R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1785	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCTTGAATTCCCTTAGGATAT	0.448000										TSP Lung(15;0.13)			58	9					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38135215	38135215	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:38135215C>T	ENST00000308059.6	+	12	1897	c.1876C>T	c.(1876-1878)Ctt>Ttt	p.L626F	DLEC1_ENST00000346219.3_Missense_Mutation_p.L626F|DLEC1_ENST00000452631.2_Missense_Mutation_p.L626F			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	626					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GCCTGAAAACCTTCGGTCCAC	0.493000													54	56					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26709789	26709789	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:26709789G>A	ENST00000529632.2	+	9	2132	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	SEZ6L_ENST00000248933.6_Missense_Mutation_p.E646K|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E646K|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E419K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E646K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E419K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E646K	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	646	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AAACTGGCCCGAGCCCTACGT	0.493000													54	89					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124190010	124190010	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:124190010G>A	ENST00000357438.2	-	1	174	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GGAACAGGAGGAAGAGTGGCA	0.448000													65	7					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584862	7584862	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:7584862C>T	ENST00000379802.3	+	24	7708	c.7367C>T	c.(7366-7368)tCa>tTa	p.S2456L	DSP_ENST00000418664.2_Missense_Mutation_p.S1857L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2456	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGCAGACATCACAAAAGAAT	0.418000													24	66					0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751235	26751235	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:26751235G>A	ENST00000396641.2	+	2	664	c.72G>A	c.(70-72)atG>atA	p.M24I	LRRC3B_ENST00000456208.2_Missense_Mutation_p.M24I|LRRC3B_ENST00000417744.1_Missense_Mutation_p.M24I	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	24						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TTGTTCTTATGATACTGTGCT	0.453000													42	63					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130399857	130399857	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:130399857G>A	ENST00000356763.3	-	18	4318	c.3761C>T	c.(3760-3762)cCt>cTt	p.P1254L	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1254					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TAGTAGGATAGGATTTCCATC	0.358000													33	53					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132505635	132505635	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:132505635C>T	ENST00000333577.4	+	24	4676	c.4567C>T	c.(4567-4569)Ccg>Tcg	p.P1523S	EP400_ENST00000330386.6_Intron|EP400_ENST00000332482.4_Missense_Mutation_p.P1450S|EP400_ENST00000389562.2_Missense_Mutation_p.P1486S|EP400_ENST00000389561.2_Missense_Mutation_p.P1487S			Q96L91	EP400_HUMAN	E1A binding protein p400	1523					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		AGCAGCAGCCCCGTTTCAGAC	0.498000													54	59					0	0	1	0	0
CCDC34	91057	broad.mit.edu	37	11	27362305	27362305	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:27362305T>A	ENST00000328697.6	-	5	1518	c.845A>T	c.(844-846)aAt>aTt	p.N282I	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	282										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						ATGTTTCGCATTTTCCAACCA	0.348000													37	36					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587970	55587970	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:55587970C>T	ENST00000333976.4	+	1	885	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GTTGAATCCCCTGATCTACAG	0.458000													18	44					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33232154	33232154	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr6:33232154G>A	ENST00000445902.2	-	14	1739	c.1521C>T	c.(1519-1521)caC>caT	p.H507H	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.H382H	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	507					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CCCTCACATAGTGGGGCCGAG	0.567000													72	114					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51378681	51378681	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:51378681C>T	ENST00000266037.9	+	38	3803	c.3780C>T	c.(3778-3780)acC>acT	p.T1260T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1260	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCGCATTTACCCTGCTCCTTT	0.612000													21	25					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433570	69433570	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:69433570C>T	ENST00000317746.2	-	1	675	c.633G>A	c.(631-633)agG>agA	p.R211R		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	211					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TATTTTTTATCCTCTCCATGA	0.353000													41	33					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11554563	11554563	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:11554563C>T	ENST00000262442.3	+	13	2343	c.2275C>T	c.(2275-2277)Cca>Tca	p.P759S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P759S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	759	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGTGGAATTTCCATTAGTGGA	0.453000													42	3					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228558884	228558884	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:228558884C>T	ENST00000570156.2	+	105	23350	c.23276C>T	c.(23275-23277)cCa>cTa	p.P7759L	OBSCN_ENST00000366707.4_Missense_Mutation_p.P4436L|OBSCN_ENST00000422127.1_Missense_Mutation_p.P6802L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6802	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGCTCGCCCCATTTGCCCGG	0.692000													25	8					0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635677	122635677	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:122635677G>A	ENST00000249284.2	-	1	77	c.12C>T	c.(10-12)atC>atT	p.I4I		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	4					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGTGAGTTGGATGGGTATCA	0.453000													36	30					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269613	34269613	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr14:34269613G>A	ENST00000346562.2	+	11	2078	c.2004G>A	c.(2002-2004)ggG>ggA	p.G668G	NPAS3_ENST00000551492.1_Silent_p.G705G|NPAS3_ENST00000548645.1_Silent_p.G670G|NPAS3_ENST00000357798.5_Silent_p.G687G|NPAS3_ENST00000356141.4_Silent_p.G700G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	700					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCGGCGGTGGGGGTGGCGGTG	0.741000													22	20					0	0	1	0	0
FCGR1A	2209	broad.mit.edu	37	1	149762894	149762894	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:149762894G>A	ENST00000369168.4	+	6	1000	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	316	Interaction with EPB41L2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AATACGTAAAGAACTGAAAAG	0.388000													17	43					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179535871	179535871	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr2:179535871G>A	ENST00000589042.1	-	156	35478	c.35254C>T	c.(35254-35256)Cct>Tct	p.P11752S	TTN_ENST00000342992.6_Missense_Mutation_p.P10451S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11378S|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9870	Glu-rich.|Pro-rich.						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)			TTTTTTGGAGGGATGATTTTC	0.358000													26	17					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130187644	130187644	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:130187644G>A	ENST00000265379.6	+	38	7290	c.6796G>A	c.(6796-6798)Gaa>Aaa	p.E2266K	COL6A5_ENST00000432398.2_Missense_Mutation_p.E2266K			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2266	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGCAGGACATGAAAATTATGG	0.378000													5	14					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791492	95791492	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr10:95791492A>T	ENST00000260766.3	+	2	1323	c.689A>T	c.(688-690)tAt>tTt	p.Y230F	PLCE1_ENST00000371380.2_Missense_Mutation_p.Y230F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	230					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAGAAAAACTATGTGGCATAT	0.378000													14	13					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103243892	103243892	+	Silent	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr7:103243892G>A	ENST00000428762.1	-	24	3351	c.3192C>T	c.(3190-3192)gcC>gcT	p.A1064A	RELN_ENST00000343529.5_Silent_p.A1064A|RELN_ENST00000424685.2_Silent_p.A1064A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1064					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)		TGGACGGAAGGGCAGCTTCTG	0.512000													93	58					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103356006	103356006	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:103356006C>T	ENST00000358392.2	-	58	4710		c.e58+1		COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTATTCTCACCTTTTCACCC	0.333000													8	14					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13883132	13883132	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:13883132G>A	ENST00000265104.4	-	20	3159	c.3055C>T	c.(3055-3057)Ccc>Tcc	p.P1019S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1019	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACGATGTTGGGAATGGCCAGA	0.517000									Kartagener syndrome				92	112					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107781949	107781949	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:107781949G>A	ENST00000311955.3	-	1	524	c.470C>T	c.(469-471)cCa>cTa	p.P157L		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	157					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCTCCGCGTTGGGGAGCCGTG	0.582000													199	257					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266817	48266817	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:48266817C>T	ENST00000302329.3	+	1	210	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTACTTCTTCCTCAGCTACC	0.488000													55	50					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89968505	89968505	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr5:89968505G>A	ENST00000405460.2	+	22	4991	c.4895G>A	c.(4894-4896)gGa>gAa	p.G1632E	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1632	Calx-beta 11.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATGCCAGTGGAACTATTACA	0.403000													56	87					0	0	1	0	0
LEPREL2	10536	broad.mit.edu	37	12	6946709	6946709	+	RNA	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:6946709C>T	ENST00000251761.8	+	0	1716				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						TGTCCTTCACCCACCTGGTGT	0.657000													14	17					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45750926	45750926	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:45750926C>T	ENST00000357450.4	-	20	3030	c.3031G>A	c.(3031-3033)Gat>Aat	p.D1011N	SMC1B_ENST00000404354.3_Missense_Mutation_p.D1011N	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1011					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGTAAGATATCTTCCTGGGAT	0.453000													68	71					0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583609	10583609	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:10583609G>C	ENST00000304501.1	-	2	884	c.806C>G	c.(805-807)tCc>tGc	p.S269C	SOX7_ENST00000554914.1_Missense_Mutation_p.S321C|SOX7_ENST00000553390.1_Missense_Mutation_p.S321C	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	269	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGACATCATGGAGACGCCGGG	0.677000													20	28					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89882179	89882179	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr11:89882179C>T	ENST00000534061.1	+	4	617	c.387C>T	c.(385-387)ttC>ttT	p.F129F	NAALAD2_ENST00000321955.4_Silent_p.F129F|NAALAD2_ENST00000525171.1_Silent_p.F129F|NAALAD2_ENST00000375944.3_Silent_p.F129F	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	129					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCTAGATTTTCAAAACATCAT	0.333000													61	96					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835467	172835467	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:172835467C>T	ENST00000351008.3	-	2	238	c.55G>A	c.(55-57)Gat>Aat	p.D19N		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	19					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ACAAGCTGATCATGATAGATC	0.438000													90	105					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754504	76754504	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr18:76754504C>T	ENST00000536229.3	+	1	2823	c.2114C>T	c.(2113-2115)tCc>tTc	p.S705F	SALL3_ENST00000537592.2_Missense_Mutation_p.S838F|SALL3_ENST00000575389.2_Missense_Mutation_p.S838F			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	838					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCGGTCATCTCCAGCATTGCC	0.667000													29	49					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456081	5456081	+	Silent	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr19:5456081C>T	ENST00000222033.4	+	1	656	c.579C>T	c.(577-579)ctC>ctT	p.L193L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	193	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCGACGACCTCGTGAGCATGA	0.657000													90	93					0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69420275	69420275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:69420275G>A	ENST00000333026.3	+	4	538	c.438G>A	c.(436-438)tgG>tgA	p.W146*		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	146					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGATATTTTGGATCCCAATTG	0.403000													41	3					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486885	125486885	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr9:125486885C>T	ENST00000259466.1	+	1	617	c.617C>T	c.(616-618)gCt>gTt	p.A206V		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GAGACCTTAGCTGTCATTGTG	0.522000													129	646					0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36909789	36909789	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr13:36909789G>A	ENST00000451493.1	-	2	396	c.179C>T	c.(178-180)tCa>tTa	p.S60L	SPG20_ENST00000355182.4_Missense_Mutation_p.S60L|SPG20_ENST00000494062.2_Missense_Mutation_p.S60L|SPG20_ENST00000438666.2_Missense_Mutation_p.S60L|SPG20_ENST00000495510.1_5'UTR	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	60	MIT.				cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTCTTTTGATGAAATGCTGAT	0.428000													51	66					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109813099	109813099	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:109813099delT	ENST00000271332.3	+	24	7421	c.7360delT	c.(7360-7362)ttfs	p.F2454fs		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2454					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCTCTGCACCTTTTCCTGGGC	0.637													11	262	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152083818	152083820	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr1:152083818_152083820delCGG	ENST00000368804.1	-	2	1872_1874	c.1873_1875delCCG	c.(1873-1875)del	p.P625del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	625	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCCTCCGGCTCCTCGCGC	0.680													7	173	---	---	---	---					
CMC1	152100	broad.mit.edu	37	3	28361066	28361066	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr3:28361066delA	ENST00000466830.1	+	4	466	c.267delA	c.(265-267)agfs	p.R89fs	CMC1_ENST00000469102.1_3'UTR|CMC1_ENST00000423894.1_Frame_Shift_Del_p.R59fs	NM_182523.1	NP_872329.1	Q7Z7K0	COXAM_HUMAN	C-x(9)-C motif containing 1	89						mitochondrion	metal ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)	5						AAGAATTCAGAAAAACTGGAA	0.348													23	41	---	---	---	---					
RP11-87F15.2	0	broad.mit.edu	37	4	177241061	177241062	+	RNA	DEL	GC	GC	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr4:177241061_177241062delGC	ENST00000512634.1	-	0	314																											CGGGAAGCGGGCGCGCGCGCGC	0.782													2	4	---	---	---	---					
RP1L1	94137	broad.mit.edu	37	8	10467629	10467630	+	In_Frame_Ins	INS	-	-	TTC	rs146656804	by1000genomes	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:10467629_10467630insTTC	ENST00000382483.3	-	4	4201_4202	c.3978_3979insGAA	c.(3976-3981)aacaga>aaGAAcaga	p.1326_1327insK		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1326					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ccttcttctgttttagtttcct	0.455													7	17	---	---	---	---					
MROH5	389690	broad.mit.edu	37	8	142444233	142444234	+	RNA	INS	-	-	GGC	rs142460453	by1000genomes	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:142444233_142444234insGGC	ENST00000430863.1	-	0	3937					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CAGGTGTTGGGGGGGTGGGGGG	0.644													2	4	---	---	---	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1267_splice	c.e12+1	p.L419_splice		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	419	Protein kinase.					integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													3	6	---	---	---	---					
TAS2R50	259296	broad.mit.edu	37	12	11139051	11139054	+	Frame_Shift_Del	DEL	AAGT	AAGT	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:11139051_11139054delAAGT	ENST00000506868.1	-	1	457_460	c.406_409delACTT	c.(406-411)tgfs	p.TL136fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	136					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						AAAAATATCAAAGTCCCCAACAGT	0.377													119	166	---	---	---	---					
RP11-54A9.1	0	broad.mit.edu	37	12	76674651	76674653	+	RNA	DEL	TCC	TCC	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:76674651_76674653delTCC	ENST00000553247.1	+	0	77																											accaactccttcctcctcctcct	0.448													2	4	---	---	---	---					
BRAP	8315	broad.mit.edu	37	12	112082051	112082052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:112082051_112082052insC	ENST00000419234.4	-	12	1923_1924	c.1730_1731insG	c.(1729-1731)gagfs	p.E577fs	BRAP_ENST00000539060.1_Frame_Shift_Ins_p.E398fs|BRAP_ENST00000327551.6_Frame_Shift_Ins_p.E547fs	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	577					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTTCCCACTGCCCCCCGAAGA	0.604													30	47	---	---	---	---					
ZNF664-FAM101A	100533183	broad.mit.edu	37	12	124719518	124719520	+	RNA	DEL	ATA	ATA	-	rs112028864		TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr12:124719518_124719520delATA	ENST00000540762.1	+	0	444																											cattaccaccataatcatcatca	0.488													3	3	---	---	---	---					
RP11-519G16.3	0	broad.mit.edu	37	15	45755297	45755298	+	RNA	INS	-	-	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr15:45755297_45755298insC	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA																							catcaccaccacatcaccatca	0.604													2	4	---	---	---	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:61899155_61899157delCTC	ENST00000427159.2	-	15	2167_2169	c.1522_1524delGAG	c.(1522-1524)del	p.E508del		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													7	331	---	---	---	---					
TEX2	55852	broad.mit.edu	37	17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr17:62291438_62291440delTCC	ENST00000258991.3	-	2	222_224	c.138_140delGGA	c.(136-141)gaa>ga	p.EE50del	TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del|TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del			Q8IWB9	TEX2_HUMAN	testis expressed 2	50	Poly-Glu.				signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552													7	128	---	---	---	---					
PHACTR3	116154	broad.mit.edu	37	20	58342249	58342249	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:58342249delC	ENST00000371015.1	+	5	1017	c.550delC	c.(550-552)ctfs	p.P184fs	PHACTR3_ENST00000355648.4_Frame_Shift_Del_p.P143fs|PHACTR3_ENST00000541461.1_Frame_Shift_Del_p.P143fs|PHACTR3_ENST00000395636.2_Frame_Shift_Del_p.P143fs|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000359926.3_Frame_Shift_Del_p.P181fs	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	184						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AGCCAAGATGCCTTCTGCATC	0.542													28	36	---	---	---	---					
RP5-963E22.4	0	broad.mit.edu	37	20	61798916	61798917	+	RNA	INS	-	-	CCCACCTCAGC	rs61134431	by1000genomes	TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr20:61798916_61798917insCCCACCTCAGC	ENST00000423020.1	-	0	188																											cccacctcagaccctcctcagc	0.703													2	4	---	---	---	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)atfs	p.N299fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													7	279	---	---	---	---					
AKAP17A	8227	broad.mit.edu	37	X	1719869	1719870	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D3-A3ML-06A-11D-A21A-08	TCGA-D3-A3ML-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77b1e86e-eb3d-4e18-81a8-99aef65f7ac5	853dfc41-d7d7-431c-84d9-9e180bc3d4f4	g.chrX:1719869_1719870insC	ENST00000313871.3	+	5	1666_1667	c.1470_1471insC	c.(1468-1473)caccccfs	p.HP490fs		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	490					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TCGGGGGCCAGCCCCCGGCCGG	0.733													2	4	---	---	---	---